-
1
-
-
79958717871
-
Regulation of ciliary motility: conserved protein kinases and phosphatases are targeted and anchored in the ciliary axoneme
-
Wirschell M, Yamamoto R, Alford L, Gokhale A, Gaillard A, Sale W. Regulation of ciliary motility: conserved protein kinases and phosphatases are targeted and anchored in the ciliary axoneme. Arch Biochem Biophys 2011;510:93-100.
-
(2011)
Arch Biochem Biophys
, vol.510
, pp. 93-100
-
-
Wirschell, M.1
Yamamoto, R.2
Alford, L.3
Gokhale, A.4
Gaillard, A.5
Sale, W.6
-
2
-
-
36248951507
-
Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor
-
Rompolas P, Pedersen L, Patel-King R, King S. Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor. J Cell Sci 2007;120(Pt 20):3653-65.
-
(2007)
J Cell Sci
, vol.120
, Issue.20 PART
, pp. 3653-3665
-
-
Rompolas, P.1
Pedersen, L.2
Patel-King, R.3
King, S.4
-
3
-
-
57349105123
-
A protein methylation pathway in Chlamydomonas flagella is active during flagellar resorption
-
Schneider M, Ulland M, Sloboda R. A protein methylation pathway in Chlamydomonas flagella is active during flagellar resorption. Mol Biol Cell 2008;19:4319-27.
-
(2008)
Mol Biol Cell
, vol.19
, pp. 4319-4327
-
-
Schneider, M.1
Ulland, M.2
Sloboda, R.3
-
4
-
-
84893755948
-
New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas
-
Lin H, Nauman N, Albee A, Hsu S, Dutcher S. New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas. Cilia 2013;2:14.
-
(2013)
Cilia
, vol.2
, pp. 14
-
-
Lin, H.1
Nauman, N.2
Albee, A.3
Hsu, S.4
Dutcher, S.5
-
5
-
-
77952850722
-
Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus
-
Tissir F, Qu Y, Montcouquiol M, Zhou L, Komatsu K, Shi D, Fujimori T, Labeau J, Tyteca D, Courtoy P, Poumay Y, Uemura T, Goffinet AM. Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus. Nat Neurosci 2010;13:700-7.
-
(2010)
Nat Neurosci
, vol.13
, pp. 700-707
-
-
Tissir, F.1
Qu, Y.2
Montcouquiol, M.3
Zhou, L.4
Komatsu, K.5
Shi, D.6
Fujimori, T.7
Labeau, J.8
Tyteca, D.9
Courtoy, P.10
Poumay, Y.11
Uemura, T.12
Goffinet, A.M.13
-
6
-
-
84877691529
-
The classical progesterone receptor mediates the rapid reduction of fallopian tube ciliary beat frequency by progesterone
-
Bylander A, Lind K, Goksör M, Billig H, Larsson DG. The classical progesterone receptor mediates the rapid reduction of fallopian tube ciliary beat frequency by progesterone. Reprod Biol Endocrinol 2013;11:33.
-
(2013)
Reprod Biol Endocrinol
, vol.11
, pp. 33
-
-
Bylander, A.1
Lind, K.2
Goksör, M.3
Billig, H.4
Larsson, D.G.5
-
7
-
-
84881664454
-
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
-
Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet 2013;93:336-45.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 336-345
-
-
Zariwala, M.A.1
Gee, H.Y.2
Kurkowiak, M.3
Al-Mutairi, D.A.4
Leigh, M.W.5
Hurd, T.W.6
Hjeij, R.7
Dell, S.D.8
Chaki, M.9
Dougherty, G.W.10
Adan, M.11
Spear, P.C.12
Esteve-Rudd, J.13
Loges, N.T.14
Rosenfeld, M.15
Diaz, K.A.16
Olbrich, H.17
Wolf, W.E.18
Sheridan, E.19
Batten, T.F.20
Halbritter, J.21
Porath, J.D.22
Kohl, S.23
Lovric, S.24
Hwang, D.Y.25
Pittman, J.E.26
Burns, K.A.27
Ferkol, T.W.28
Sagel, S.D.29
Olivier, K.N.30
Morgan, L.C.31
Werner, C.32
Raidt, J.33
Pennekamp, P.34
Sun, Z.35
Zhou, W.36
Airik, R.37
Natarajan, S.38
Allen, S.J.39
Amirav, I.40
Wieczorek, D.41
Landwehr, K.42
Nielsen, K.43
Schwerk, N.44
Sertic, J.45
Köhler, G.46
Washburn, J.47
Levy, S.48
Fan, S.49
Koerner-Rettberg, C.50
Amselem, S.51
Williams, D.S.52
Mitchell, B.J.53
Drummond, I.A.54
Otto, E.A.55
Omran, H.56
Knowles, M.R.57
Hildebrandt, F.58
more..
-
8
-
-
84891829192
-
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella
-
Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet 2014;94:95-104.
-
(2014)
Am J Hum Genet
, vol.94
, pp. 95-104
-
-
BenKhelifa, M.1
Coutton, C.2
Zouari, R.3
Karaouzène, T.4
Rendu, J.5
Bidart, M.6
Yassine, S.7
Pierre, V.8
Delaroche, J.9
Hennebicq, S.10
Grunwald, D.11
Escalier, D.12
Pernet-Gallay, K.13
Jouk, P.S.14
Thierry-Mieg, N.15
Touré, A.16
Arnoult, C.17
Ray, P.F.18
-
9
-
-
84867336373
-
Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2
-
Yoshiba S, Shiratori H, Kuo IY, Kawasumi A, Shinohara K, Nonaka S, Asai Y, Sasaki G, Belo JA, Sasaki H, Nakai J, Dworniczak B, Ehrlich BE, Pennekamp P, Hamada H. Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2. Science 2012;338:226-31.
-
(2012)
Science
, vol.338
, pp. 226-231
-
-
Yoshiba, S.1
Shiratori, H.2
Kuo, I.Y.3
Kawasumi, A.4
Shinohara, K.5
Nonaka, S.6
Asai, Y.7
Sasaki, G.8
Belo, J.A.9
Sasaki, H.10
Nakai, J.11
Dworniczak, B.12
Ehrlich, B.E.13
Pennekamp, P.14
Hamada, H.15
-
10
-
-
84875896033
-
Analysis of gene function and visualization of cilia-generated fluid flow in Kupffer's vesicle
-
Wang G, Yost HJ, Amack JD. Analysis of gene function and visualization of cilia-generated fluid flow in Kupffer's vesicle. J Vis Exp 2013;10:e50038.
-
(2013)
J Vis Exp
, vol.10
-
-
Wang, G.1
Yost, H.J.2
Amack, J.D.3
-
11
-
-
84865077999
-
Kinocilia mediate mechanosensitivity in developing zebrafish hair cells
-
Kindt KS, Finch G, Nicolson T. Kinocilia mediate mechanosensitivity in developing zebrafish hair cells. Dev Cell 2012;23:329-41.
-
(2012)
Dev Cell
, vol.23
, pp. 329-341
-
-
Kindt, K.S.1
Finch, G.2
Nicolson, T.3
-
12
-
-
84930211909
-
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.
-
Published Online First: 1 March 2014
-
Bergmann C. ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies. Pediatr Nephrol 2014. Published Online First: 1 March 2014. doi 10.1007/s00467-013-2706-2
-
(2014)
Pediatr Nephrol
-
-
Bergmann, C.1
-
13
-
-
84874755110
-
Mouse models of polycystic kidney disease induced by defects of ciliary proteins
-
Ko JY, Park JH. Mouse models of polycystic kidney disease induced by defects of ciliary proteins. BMB Rep 2013;46:73-9.
-
(2013)
BMB Rep
, vol.46
, pp. 73-79
-
-
Ko, J.Y.1
Park, J.H.2
-
14
-
-
79959491824
-
The role of cilia in the regulation of bile flow
-
Larusso NF, Masyuk TV. The role of cilia in the regulation of bile flow. Dig Dis 2011;29:6-12.
-
(2011)
Dig Dis
, vol.29
, pp. 6-12
-
-
Larusso, N.F.1
Masyuk, T.V.2
-
15
-
-
39549108666
-
Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1
-
Gallagher AR, Esquivel EL, Briere TS, Tian X, Mitobe M, Menezes LF, Markowitz GS, Jain D, Onuchic LF, Somlo S. Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Am J Pathol 2008;172:417-29.
-
(2008)
Am J Pathol
, vol.172
, pp. 417-429
-
-
Gallagher, A.R.1
Esquivel, E.L.2
Briere, T.S.3
Tian, X.4
Mitobe, M.5
Menezes, L.F.6
Markowitz, G.S.7
Jain, D.8
Onuchic, L.F.9
Somlo, S.10
-
16
-
-
84862848736
-
The primary cilium as a dual sensor of mechanochemical signals in chondrocytes
-
Muhammad H, Rais Y, Miosge N, Ornan EM. The primary cilium as a dual sensor of mechanochemical signals in chondrocytes. Cell Mol Life Sci 2012; 69:2101-7.
-
(2012)
Cell Mol Life Sci
, vol.69
, pp. 2101-2107
-
-
Muhammad, H.1
Rais, Y.2
Miosge, N.3
Ornan, E.M.4
-
17
-
-
84888345138
-
Primary cilia attenuate hedgehog signalling in neoplastic chondrocytes
-
Ho L, Ali SA, Al-Jazrawe M, Kandel R, Wunder JS, Alman BA. Primary cilia attenuate hedgehog signalling in neoplastic chondrocytes. Oncogene 2013;32:5388-96.
-
(2013)
Oncogene
, vol.32
, pp. 5388-5396
-
-
Ho, L.1
Ali, S.A.2
Al-Jazrawe, M.3
Kandel, R.4
Wunder, J.S.5
Alman, B.A.6
-
18
-
-
84869074316
-
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies
-
Di Gioia SA, Letteboer SJ, Kostic C, Bandah-Rozenfeld D, Hetterschijt L, Sharon D, Arsenijevic Y, Roepman R, Rivolta C. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Hum Mol Genet 2012;21:5174-84.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 5174-5184
-
-
DiGioia, S.A.1
Letteboer, S.J.2
Kostic, C.3
Bandah-Rozenfeld, D.4
Hetterschijt, L.5
Sharon, D.6
Arsenijevic, Y.7
Roepman, R.8
Rivolta, C.9
-
20
-
-
84860721580
-
Insights into dynein motor domain function from a 3.3-Å crystal structure
-
Schmidt H, Gleave E, Carter A. Insights into dynein motor domain function from a 3.3-Å crystal structure. Nat Struct Mol Biol 2012;19:492-7.
-
(2012)
Nat Struct Mol Biol
, vol.19
, pp. 492-497
-
-
Schmidt, H.1
Gleave, E.2
Carter, A.3
-
21
-
-
74049111826
-
The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella
-
Heuser T, Raytchev M, Krell J, Porter M, Nicastro D. The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella. J Cell Biol 2009;187:921-33.
-
(2009)
J Cell Biol
, vol.187
, pp. 921-933
-
-
Heuser, T.1
Raytchev, M.2
Krell, J.3
Porter, M.4
Nicastro, D.5
-
22
-
-
79960288305
-
The CSC is required for complete radial spoke assembly and wild-type ciliary motility
-
Dymek E, Heuser T, Nicastro D, Smith E. The CSC is required for complete radial spoke assembly and wild-type ciliary motility. Mol Biol Cell 2011;22:2520-31.
-
(2011)
Mol Biol Cell
, vol.22
, pp. 2520-2531
-
-
Dymek, E.1
Heuser, T.2
Nicastro, D.3
Smith, E.4
-
23
-
-
84865208094
-
The CSC connects three major axonemal complexes involved in dynein regulation
-
Heuser T, Dymek E, Lin J, Smith E, Nicastro D. The CSC connects three major axonemal complexes involved in dynein regulation. Mol Biol Cell 2012;23:3143-55.
-
(2012)
Mol Biol Cell
, vol.23
, pp. 3143-3155
-
-
Heuser, T.1
Dymek, E.2
Lin, J.3
Smith, E.4
Nicastro, D.5
-
24
-
-
55249083702
-
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm
-
Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 2008;83:547-58.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 547-558
-
-
Loges, N.T.1
Olbrich, H.2
Fenske, L.3
Mussaffi, H.4
Horvath, J.5
Fliegauf, M.6
Kuhl, H.7
Baktai, G.8
Peterffy, E.9
Chodhari, R.10
Chung, E.M.11
Rutman, A.12
O'Callaghan, C.13
Blau, H.14
Tiszlavicz, L.15
Voelkel, K.16
Witt, M.17
Zietkiewicz, E.18
Neesen, J.19
Reinhardt, R.20
Mitchison, H.M.21
Omran, H.22
more..
-
25
-
-
78649719823
-
Factors influencing age at diagnosis of primary ciliary dyskinesia in European children
-
Kuehni CE, Frischer T, Strippoli MP, Maurer E, Bush A, Nielsen KG, Escribano A, Lucas JS, Yiallouros P, Omran H, Eber E, O'Callaghan C, Snijders D, Barbato A; ERS Task Force on Primary Ciliary Dyskinesia in Children. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J 2010;36:1248-58.
-
(2010)
Eur Respir J
, vol.36
, pp. 1248-1258
-
-
Kuehni, C.E.1
Frischer, T.2
Strippoli, M.P.3
Maurer, E.4
Bush, A.5
Nielsen, K.G.6
Escribano, A.7
Lucas, J.S.8
Yiallouros, P.9
Omran, H.10
Eber, E.11
O'Callaghan, C.12
Snijders, D.13
Barbato, A.14
-
26
-
-
73249125649
-
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children
-
Barbato A, Frischer T, Kuehni C, Snijders D, Azevedo I, Baktai G, Bartoloni L, Eber E, Escribano A, Haarman E, Hesselmar B, Hogg C, Jorissen M, Lucas J, Nielsen KG, O'Callaghan C, Omran H, Pohunek P, Strippoli MP, Bush A. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 2009;34:1264-76.
-
(2009)
Eur Respir J
, vol.34
, pp. 1264-1276
-
-
Barbato, A.1
Frischer, T.2
Kuehni, C.3
Snijders, D.4
Azevedo, I.5
Baktai, G.6
Bartoloni, L.7
Eber, E.8
Escribano, A.9
Haarman, E.10
Hesselmar, B.11
Hogg, C.12
Jorissen, M.13
Lucas, J.14
Nielsen, K.G.15
O'Callaghan, C.16
Omran, H.17
Pohunek, P.18
Strippoli, M.P.19
Bush, A.20
more..
-
27
-
-
84887202069
-
Up to date on primary ciliary dyskinesia in children
-
Pifferi M, Di Cicco M, Piras M, Cangiotti A, Saggese G. Up to date on primary ciliary dyskinesia in children. Early Hum Dev 2013;89(Suppl 3):S45-8.
-
(2013)
Early Hum Dev
, vol.89
, Issue.3
, pp. S45-S48
-
-
Pifferi, M.1
Di Cicco, M.2
Piras, M.3
Cangiotti, A.4
Saggese, G.5
-
28
-
-
0001290709
-
über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum
-
Sievert A. über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum. Berliner klinische Wochenschrift 1904;41:139-41.
-
(1904)
Berliner klinische Wochenschrift
, vol.41
, pp. 139-141
-
-
Sievert, A.1
-
29
-
-
34347201840
-
Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus
-
Kartagener M. Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus. Beiträge zur Klinik der Tuberkulose 1933;83:489-501.
-
(1933)
Beiträge zur Klinik der Tuberkulose
, vol.83
, pp. 489-501
-
-
Kartagener, M.1
-
30
-
-
0017162819
-
A human syndrome caused by immotile cilia.
-
Afzelius B. A human syndrome caused by immotile cilia. Science 1976;193:317-19.
-
(1976)
Science
, vol.193
, pp. 317-319
-
-
Afzelius, B.1
-
31
-
-
0442313529
-
Primary ciliary dyskinesia: diagnostic and phenotypic features
-
Noone P, Leigh M, Sannuti A, Minnix S, Carson J, Hazucha M, Zariwala MA, Knowles MR. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004;169:459-67.
-
(2004)
Am J Respir Crit Care Med
, vol.169
, pp. 459-467
-
-
Noone, P.1
Leigh, M.2
Sannuti, A.3
Minnix, S.4
Carson, J.5
Hazucha, M.6
Zariwala, M.A.7
Knowles, M.R.8
-
32
-
-
76149089851
-
Diagnostic testing of patients suspected of primary ciliary dyskinesia.
-
Stannard W, Chilvers M, Rutman A, Williams C, O'Callaghan C. Diagnostic testing of patients suspected of primary ciliary dyskinesia. Am J Respir Crit Care Med 2010;181:307-14.
-
(2010)
Am J Respir Crit Care Med
, vol.181
, pp. 307-314
-
-
Stannard, W.1
Chilvers, M.2
Rutman, A.3
Williams, C.4
O'Callaghan, C.5
-
33
-
-
34247598971
-
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia
-
Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG, Zariwala MA, Knowles MR. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007;115:2814-21.
-
(2007)
Circulation
, vol.115
, pp. 2814-2821
-
-
Kennedy, M.P.1
Omran, H.2
Leigh, M.W.3
Dell, S.4
Morgan, L.5
Molina, P.L.6
Robinson, B.V.7
Minnix, S.L.8
Olbrich, H.9
Severin, T.10
Ahrens, P.11
Lange, L.12
Morillas, H.N.13
Noone, P.G.14
Zariwala, M.A.15
Knowles, M.R.16
-
34
-
-
84910018969
-
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.
-
Published Online First: 27 February 2014.
-
Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, Sagel SD, Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, Knowles MR, Leigh MW; for the Genetic Disorders of Mucociliary Clearance Consortium. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest 2014. Published Online First: 27 February 2014. doi:10.1378/chest.13-1704
-
(2014)
Chest
-
-
Shapiro, A.J.1
Davis, S.D.2
Ferkol, T.3
Dell, S.D.4
Rosenfeld, M.5
Olivier, K.N.6
Sagel, S.D.7
Milla, C.8
Zariwala, M.A.9
Wolf, W.10
Carson, J.L.11
Hazucha, M.J.12
Burns, K.13
Robinson, B.14
Knowles, M.R.15
Leigh, M.W.16
-
35
-
-
79951722259
-
ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities
-
Sommer JU, Schäfer K, Omran H, Olbrich H, Wallmeier J, Blum A, Hörmann K, Stuck BA. ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities. Eur Arch Otorhinolaryngol 2011;268:383-8.
-
(2011)
Eur Arch Otorhinolaryngol
, vol.268
, pp. 383-388
-
-
Sommer, J.U.1
Schäfer, K.2
Omran, H.3
Olbrich, H.4
Wallmeier, J.5
Blum, A.6
Hörmann, K.7
Stuck, B.A.8
-
36
-
-
0036062162
-
Primary ciliary dyskinesia: age at diagnosis and symptom history
-
Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A. Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr 2002;91:667-9.
-
(2002)
Acta Paediatr
, vol.91
, pp. 667-669
-
-
Coren, M.E.1
Meeks, M.2
Morrison, I.3
Buchdahl, R.M.4
Bush, A.5
-
37
-
-
33645464522
-
Ciliary function and the role of cilia in clearance
-
Stannard W, O'Callaghan C. Ciliary function and the role of cilia in clearance. J Aerosol Med 2006;19:110-15.
-
(2006)
J Aerosol Med
, vol.19
, pp. 110-115
-
-
Stannard, W.1
O'Callaghan, C.2
-
38
-
-
84892634614
-
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
-
Boon M, Smits A, Cuppens H, Jaspers M, Proesmans M, Dupont L, Vermeulen FL, Van Daele S, Malfroot A, Godding V, Jorissen M, De Boeck K. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet J Rare Dis 2014;9:1-10.
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 1-10
-
-
Boon, M.1
Smits, A.2
Cuppens, H.3
Jaspers, M.4
Proesmans, M.5
Dupont, L.6
Vermeulen, F.L.7
Van Daele, S.8
Malfroot, A.9
Godding, V.10
Jorissen, M.11
De Boeck, K.12
-
39
-
-
84889873865
-
Complexity, temporal stability, and clinical correlates of airway bacterial community composition in primary ciliary dyskinesia
-
Rogers GB, Carroll MP, Zain NM, Bruce KD, Lock K, Walker W, Jones G, Daniels TW, Lucas JS. Complexity, temporal stability, and clinical correlates of airway bacterial community composition in primary ciliary dyskinesia. J Clin Microbiol 2013;51:4029-35.
-
(2013)
J Clin Microbiol
, vol.51
, pp. 4029-4035
-
-
Rogers, G.B.1
Carroll, M.P.2
Zain, N.M.3
Bruce, K.D.4
Lock, K.5
Walker, W.6
Jones, G.7
Daniels, T.W.8
Lucas, J.S.9
-
40
-
-
77953508175
-
New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure
-
Pifferi M, Michelucci A, Conidi M, Cangiotti A, Simi P, Macchia P, Boner A. New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. Eur Respir J 2010;35:1413-16.
-
(2010)
Eur Respir J
, vol.35
, pp. 1413-1416
-
-
Pifferi, M.1
Michelucci, A.2
Conidi, M.3
Cangiotti, A.4
Simi, P.5
Macchia, P.6
Boner, A.7
-
41
-
-
84859823623
-
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
-
Knowles M, Leigh M, Carson J, Davis S, Dell S, Ferkol T, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 2012;67:433-41.
-
(2012)
Thorax
, vol.67
, pp. 433-441
-
-
Knowles, M.1
Leigh, M.2
Carson, J.3
Davis, S.4
Dell, S.5
Ferkol, T.6
Olivier, K.N.7
Sagel, S.D.8
Rosenfeld, M.9
Burns, K.A.10
Minnix, S.L.11
Armstrong, M.C.12
Lori, A.13
Hazucha, M.J.14
Loges, N.T.15
Olbrich, H.16
Becker-Heck, A.17
Schmidts, M.18
Werner, C.19
Omran, H.20
Zariwala, M.A.21
more..
-
42
-
-
0036479029
-
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry
-
Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 2002;30:143-4.
-
(2002)
Nat Genet
, vol.30
, pp. 143-144
-
-
Olbrich, H.1
Häffner, K.2
Kispert, A.3
Völkel, A.4
Volz, A.5
Sasmaz, G.6
Reinhardt, R.7
Hennig, S.8
Lehrach, H.9
Konietzko, N.10
Zariwala, M.11
Noone, P.G.12
Knowles, M.13
Mitchison, H.M.14
Meeks, M.15
Chung, E.M.16
Hildebrandt, F.17
Sudbrak, R.18
Omran, H.19
-
43
-
-
33745748480
-
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects
-
Hornef N, Olbrich H, Horvath J, Zariwala M, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 2006;174:120-6.
-
(2006)
Am J Respir Crit Care Med
, vol.174
, pp. 120-126
-
-
Hornef, N.1
Olbrich, H.2
Horvath, J.3
Zariwala, M.4
Fliegauf, M.5
Loges, N.T.6
Wildhaber, J.7
Noone, P.G.8
Kennedy, M.9
Antonarakis, S.E.10
Blouin, J.L.11
Bartoloni, L.12
Nüsslein, T.13
Ahrens, P.14
Griese, M.15
Kuhl, H.16
Sudbrak, R.17
Knowles, M.R.18
Reinhardt, R.19
Omran, H.20
more..
-
44
-
-
84901651947
-
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
-
Wallmeier J, Al-Mutairi DA, Chen CT, Loges NT, Pennekamp P, Menchen T, Ma L, Shamseldin HE, Olbrich H, Dougherty GW, Werner C, Alsabah BH, Köhler G, Jaspers M Boon M, Griese M, Schmitt-Grohé S, Zimmermann T, Koerner-Rettberg C, Horak E, Kintner C, Alkuraya FS, Omran H. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Genet 2014;46:646-51.
-
(2014)
Nat Genet
, vol.46
, pp. 646-651
-
-
Wallmeier, J.1
Al-Mutairi, D.A.2
Chen, C.T.3
Loges, N.T.4
Pennekamp, P.5
Menchen, T.6
Ma, L.7
Shamseldin, H.E.8
Olbrich, H.9
Dougherty, G.W.10
Werner, C.11
Alsabah, B.H.12
Köhler, G.13
Jaspers, M.14
Boon, M.15
Griese, M.16
Schmitt-Grohé, S.17
Zimmermann, T.18
Koerner-Rettberg, C.19
Horak, E.20
Kintner, C.21
Alkuraya, F.S.22
Omran, H.23
more..
-
45
-
-
84886431107
-
Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia
-
Leigh MW, Hazucha MJ, Chawla KK, Baker BR, Shapiro AJ, Brown DE, Lavange LM, Horton BJ, Qaqish B, Carson JL, Davis SD, Dell SD, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Rosenfeld M, Milla C, Lee HS, Krischer J, Zariwala MA, Knowles MR. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc 2013;10:574-81.
-
(2013)
Ann Am Thorac Soc
, vol.10
, pp. 574-581
-
-
Leigh, M.W.1
Hazucha, M.J.2
Chawla, K.K.3
Baker, B.R.4
Shapiro, A.J.5
Brown, D.E.6
Lavange, L.M.7
Horton, B.J.8
Qaqish, B.9
Carson, J.L.10
Davis, S.D.11
Dell, S.D.12
Ferkol, T.W.13
Atkinson, J.J.14
Olivier, K.N.15
Sagel, S.D.16
Rosenfeld, M.17
Milla, C.18
Lee, H.S.19
Krischer, J.20
Zariwala, M.A.21
Knowles, M.R.22
more..
-
46
-
-
77951953097
-
A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia
-
Papon J, Coste A, Roudot-Thoraval F, Boucherat M, Roger G, Tamalet A, Vojtek AM, Amselem S, Escudier E. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. Eur Respir J 2010;35:1057-63.
-
(2010)
Eur Respir J
, vol.35
, pp. 1057-1063
-
-
Papon, J.1
Coste, A.2
Roudot-Thoraval, F.3
Boucherat, M.4
Roger, G.5
Tamalet, A.6
Vojtek, A.M.7
Amselem, S.8
Escudier, E.9
-
48
-
-
84904905486
-
A new tool improves diagnostic test performance for transmission EM evaluation of axonemal dynein arms
-
Funkhouser WK III, Niethammer M, Carson JL, Burns KA, Knowles MR, Leigh MW, Zariwala MA, Funkhouser WK Jr. A new tool improves diagnostic test performance for transmission EM evaluation of axonemal dynein arms. Ultrasrtuct Pathol 2013;38:248-55.
-
(2013)
Ultrasrtuct Pathol
, vol.38
, pp. 248-255
-
-
Funkhouser W.K, I.I.I.1
Niethammer, M.2
Carson, J.L.3
Burns, K.A.4
Knowles, M.R.5
Leigh, M.W.6
Zariwala, M.A.7
Funkhouser W.K, Jr.8
-
49
-
-
33947525850
-
Genetic defects in ciliary structure and function
-
Zariwala M, Knowles M, Omran H. Genetic defects in ciliary structure and function. Annu Rev Physiol 2007;69:423-50.
-
(2007)
Annu Rev Physiol
, vol.69
, pp. 423-450
-
-
Zariwala, M.1
Knowles, M.2
Omran, H.3
-
50
-
-
77954679754
-
Immunofluorescence staining of ciliated respiratory epithelial cells
-
Omran H, Loges NT. Immunofluorescence staining of ciliated respiratory epithelial cells. Methods Cell Biol 2009;91:123-33.
-
(2009)
Methods Cell Biol
, vol.91
, pp. 123-133
-
-
Omran, H.1
Loges, N.T.2
-
52
-
-
84896123256
-
Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid
-
Hirst RA, Jackson CL, Coles JL, Williams G, Rutman A, Goggin PM, Adam EC, Page A, Evans HJ, Lackie PM, O'Callaghan C, Lucas JS. Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid. PLoS ONE 2014;9:e89675.
-
(2014)
PLoS ONE
, vol.9
, pp. e89675
-
-
Hirst, R.A.1
Jackson, C.L.2
Coles, J.L.3
Williams, G.4
Rutman, A.5
Goggin, P.M.6
Adam, E.C.7
Page, A.8
Evans, H.J.9
Lackie, P.M.10
O'Callaghan, C.11
Lucas, J.S.12
-
53
-
-
0033365058
-
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia
-
Pennarun G, Escudier E, Chapelin C, Bridoux A, Cacheux V, Roger G, Clément A, Goossens M, Amselem S, Duriez B. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet 1999;65:1508-19.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1508-1519
-
-
Pennarun, G.1
Escudier, E.2
Chapelin, C.3
Bridoux, A.4
Cacheux, V.5
Roger, G.6
Clément, A.7
Goossens, M.8
Amselem, S.9
Duriez, B.10
-
54
-
-
0033748135
-
Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene
-
Omran H, Häffner K, Völkel A, Kuehr J, Ketelsen UP, Ross UH, Konietzko N, Wienker T, Brandis M, Hildebrandt F. Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. Am J Respir Cell Mol Biol 2000;23:696-702.
-
(2000)
Am J Respir Cell Mol Biol
, vol.23
, pp. 696-702
-
-
Omran, H.1
Häffner, K.2
Völkel, A.3
Kuehr, J.4
Ketelsen, U.P.5
Ross, U.H.6
Konietzko, N.7
Wienker, T.8
Brandis, M.9
Hildebrandt, F.10
-
55
-
-
71149086940
-
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
-
Loges NT, Olbrich H, Becker-Heck A, Häffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nürnberg G, Nürnberg P, Reinhardt R, Omran H. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet 2009;85:883-9.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 883-889
-
-
Loges, N.T.1
Olbrich, H.2
Becker-Heck, A.3
Häffner, K.4
Heer, A.5
Reinhard, C.6
Schmidts, M.7
Kispert, A.8
Zariwala, M.A.9
Leigh, M.W.10
Knowles, M.R.11
Zentgraf, H.12
Seithe, H.13
Nürnberg, G.14
Nürnberg, P.15
Reinhardt, R.16
Omran, H.17
-
56
-
-
71449084986
-
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia
-
Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am J Hum Genet 2009;85:890-6.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 890-896
-
-
Duquesnoy, P.1
Escudier, E.2
Vincensini, L.3
Freshour, J.4
Bridoux, A.M.5
Coste, A.6
Deschildre, A.7
de Blic, J.8
Legendre, M.9
Montantin, G.10
Tenreiro, H.11
Vojtek, A.M.12
Loussert, C.13
Clément, A.14
Escalier, D.15
Bastin, P.16
Mitchell, D.R.17
Amselem, S.18
-
57
-
-
78651260210
-
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
-
Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 2011;43:72-8.
-
(2011)
Nat Genet
, vol.43
, pp. 72-78
-
-
Merveille, A.C.1
Davis, E.E.2
Becker-Heck, A.3
Legendre, M.4
Amirav, I.5
Bataille, G.6
Belmont, J.7
Beydon, N.8
Billen, F.9
Clément, A.10
Clercx, C.11
Coste, A.12
Crosbie, R.13
de Blic, J.14
Deleuze, S.15
Duquesnoy, P.16
Escalier, D.17
Escudier, E.18
Fliegauf, M.19
Horvath, J.20
Hill, K.21
Jorissen, M.22
Just, J.23
Kispert, A.24
Lathrop, M.25
Loges, N.T.26
Marthin, J.K.27
Momozawa, Y.28
Montantin, G.29
Nielsen, K.G.30
Olbrich, H.31
Papon, J.F.32
Rayet, I.33
Roger, G.34
Schmidts, M.35
Tenreiro, H.36
Towbin, J.A.37
Zelenika, D.38
Zentgraf, H.39
Georges, M.40
Lequarré, A.S.41
Katsanis, N.42
Omran, H.43
Amselem, S.44
more..
-
58
-
-
33645765214
-
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
-
Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clément A, Geremek M, Delaisi B, Bridoux AM, Coste A, Witt M, Duriez B, Amselem S. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet 2006;43:326-33.
-
(2006)
J Med Genet
, vol.43
, pp. 326-333
-
-
Moore, A.1
Escudier, E.2
Roger, G.3
Tamalet, A.4
Pelosse, B.5
Marlin, S.6
Clément, A.7
Geremek, M.8
Delaisi, B.9
Bridoux, A.M.10
Coste, A.11
Witt, M.12
Duriez, B.13
Amselem, S.14
-
59
-
-
84884211488
-
RPGR mutations might cause reduced orientation of respiratory cilia
-
Bukowy-Bieryllo Z, Zietkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkiewicz E, Rutland J, Morgan L, Pogorzelski A, Martin J, Haan E, Berger W, Omran H, Witt M. RPGR mutations might cause reduced orientation of respiratory cilia. Pediatr Pulmonol 2013;48:352-63.
-
(2013)
Pediatr Pulmonol
, vol.48
, pp. 352-363
-
-
Bukowy-Bieryllo, Z.1
Zietkiewicz, E.2
Loges, N.T.3
Wittmer, M.4
Geremek, M.5
Olbrich, H.6
Fliegauf, M.7
Voelkel, K.8
Rutkiewicz, E.9
Rutland, J.10
Morgan, L.11
Pogorzelski, A.12
Martin, J.13
Haan, E.14
Berger, W.15
Omran, H.16
Witt, M.17
-
60
-
-
33746990273
-
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
-
Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 2006;120:171-8.
-
(2006)
Hum Genet
, vol.120
, pp. 171-178
-
-
Budny, B.1
Chen, W.2
Omran, H.3
Fliegauf, M.4
Tzschach, A.5
Wisniewska, M.6
Jensen, L.R.7
Raynaud, M.8
Shoichet, S.A.9
Badura, M.10
Lenzner, S.11
Latos-Bielenska, A.12
Ropers, H.H.13
-
61
-
-
84916235760
-
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
-
pii:erj00520-2014. Published online first: 3 September 2014
-
Raidt J, Wallmeier J, Hjeij R, Onnebrink JG, Pennekamp P, Loges NT, Olbrich H, Häffner K, Dougherty GW, Omran H, Werner C. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J 2014:pii:erj00520-2014. Published online first: 3 September 2014. doi 10.1183/09031936.00052014
-
(2014)
Eur Respir J
-
-
Raidt, J.1
Wallmeier, J.2
Hjeij, R.3
Onnebrink, J.G.4
Pennekamp, P.5
Loges, N.T.6
Olbrich, H.7
Häffner, K.8
Dougherty, G.W.9
Omran, H.10
Werner, C.11
-
62
-
-
33749843285
-
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation
-
Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med 2006;174:858-66.
-
(2006)
Am J Respir Crit Care Med
, vol.174
, pp. 858-866
-
-
Zariwala, M.A.1
Leigh, M.W.2
Ceppa, F.3
Kennedy, M.P.4
Noone, P.G.5
Carson, J.L.6
Hazucha, M.J.7
Lori, A.8
Horvath, J.9
Olbrich, H.10
Loges, N.T.11
Bridoux, A.M.12
Pennarun, G.13
Duriez, B.14
Escudier, E.15
Mitchison, H.M.16
Chodhari, R.17
Chung, E.M.18
Morgan, L.C.19
de Iongh, R.U.20
Rutland, J.21
Pradal, U.22
Omran, H.23
Amselem, S.24
Knowles, M.R.25
more..
-
63
-
-
78649766458
-
Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)
-
Zietkiewicz E, Nitka B, Voelkel K, Skrzypczak U, Bukowy Z, Rutkiewicz E, Huminska K, Przystalowska H, Pogorzelski A, Witt M. Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). Respir Res 2010;11:1-11.
-
(2010)
Respir Res
, vol.11
, pp. 1-11
-
-
Zietkiewicz, E.1
Nitka, B.2
Voelkel, K.3
Skrzypczak, U.4
Bukowy, Z.5
Rutkiewicz, E.6
Huminska, K.7
Przystalowska, H.8
Pogorzelski, A.9
Witt, M.10
-
64
-
-
49949100454
-
DNAI1 mutations explain only 2% of primary ciliary dykinesia
-
Failly M, Saitta A, Muñoz A, Falconnet E, Rossier C, Santamaria F, de Santi MM, Lazor R, DeLozier-Blanchet CD, Bartoloni L, Blouin JL. DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration 2008;76:198-204.
-
(2008)
Respiration
, vol.76
, pp. 198-204
-
-
Failly, M.1
Saitta, A.2
Muñoz, A.3
Falconnet, E.4
Rossier, C.5
Santamaria, F.6
de Santi, M.M.7
Lazor, R.8
DeLozier-Blanchet, C.D.9
Bartoloni, L.10
Blouin, J.L.11
-
65
-
-
21844451176
-
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients
-
Horváth J, Fliegauf M, Olbrich H, Kispert A, King S, Mitchison H, Zariwala MA, Knowles MR, Sudbrak R, Fekete G, Neesen J, Reinhardt R, Omran H. Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. Am J Respir Cell Mol Biol 2005;33:41-7.
-
(2005)
Am J Respir Cell Mol Biol
, vol.33
, pp. 41-47
-
-
Horváth, J.1
Fliegauf, M.2
Olbrich, H.3
Kispert, A.4
King, S.5
Mitchison, H.6
Zariwala, M.A.7
Knowles, M.R.8
Sudbrak, R.9
Fekete, G.10
Neesen, J.11
Reinhardt, R.12
Omran, H.13
-
66
-
-
33847678960
-
A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
-
Duriez B, Duquesnoy P, Escudier E, Bridoux A, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci USA 2007;104:3336-41.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 3336-3341
-
-
Duriez, B.1
Duquesnoy, P.2
Escudier, E.3
Bridoux, A.4
Escalier, D.5
Rayet, I.6
Marcos, E.7
Vojtek, A.M.8
Bercher, J.F.9
Amselem, S.10
-
67
-
-
79955856801
-
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1
-
Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield V, Aviram M, Parvari R. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet 2011;88:599-607.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 599-607
-
-
Mazor, M.1
Alkrinawi, S.2
Chalifa-Caspi, V.3
Manor, E.4
Sheffield, V.5
Aviram, M.6
Parvari, R.7
-
68
-
-
84872285578
-
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
-
Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet 2013;92:99-106.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 99-106
-
-
Knowles, M.R.1
Leigh, M.W.2
Ostrowski, L.E.3
Huang, L.4
Carson, J.L.5
Hazucha, M.J.6
Yin, W.7
Berg, J.S.8
Davis, S.D.9
Dell, S.D.10
Ferkol, T.W.11
Rosenfeld, M.12
Sagel, S.D.13
Milla, C.E.14
Olivier, K.N.15
Turner, E.H.16
Lewis, A.P.17
Bamshad, M.J.18
Nickerson, D.A.19
Shendure, J.20
Zariwala, M.A.21
more..
-
69
-
-
84872342461
-
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
-
Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B, Schmidts M, Petridi S, Dankert-Roelse JE, Haarman EG, Daniels JM, Emes RD, Wilson R, Hogg C, Scambler PJ, Chung EM; UK10K, Pals G, Mitchison HM. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Am J Hum Genet 2013;92:88-98.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 88-98
-
-
Onoufriadis, A.1
Paff, T.2
Antony, D.3
Shoemark, A.4
Micha, D.5
Kuyt, B.6
Schmidts, M.7
Petridi, S.8
Dankert-Roelse, J.E.9
Haarman, E.G.10
Daniels, J.M.11
Emes, R.D.12
Wilson, R.13
Hogg, C.14
Scambler, P.J.15
Chung, E.M.16
Pals, G.17
Mitchison, H.M.18
-
70
-
-
84890870849
-
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
-
Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM; UK10K, Mitchison HM. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. J Med Genet 2014;51:61-7.
-
(2014)
J Med Genet
, vol.51
, pp. 61-67
-
-
Onoufriadis, A.1
Shoemark, A.2
Munye, M.M.3
James, C.T.4
Schmidts, M.5
Patel, M.6
Rosser, E.M.7
Bacchelli, C.8
Beales, P.L.9
Scambler, P.J.10
Hart, S.L.11
Danke-Roelse, J.E.12
Sloper, J.J.13
Hull, S.14
Hogg, C.15
Emes, R.D.16
Pals, G.17
Moore, A.T.18
Chung, E.M.19
Mitchison, H.M.20
more..
-
71
-
-
84881668924
-
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry
-
Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 2013;93:357-67.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 357-367
-
-
Hjeij, R.1
Lindstrand, A.2
Francis, R.3
Zariwala, M.A.4
Liu, X.5
Li, Y.6
Damerla, R.7
Dougherty, G.W.8
Abouhamed, M.9
Olbrich, H.10
Loges, N.T.11
Pennekamp, P.12
Davis, E.E.13
Carvalho, C.M.14
Pehlivan, D.15
Werner, C.16
Raidt, J.17
Köhler, G.18
Häffner, K.19
Reyes-Mugica, M.20
Lupski, J.R.21
Leigh, M.W.22
Rosenfeld, M.23
Morgan, L.C.24
Knowles, M.R.25
Lo, C.W.26
Katsanis, N.27
Omran, H.28
more..
-
72
-
-
84908250713
-
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation
-
Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM; UK10K Consortium, Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Am J Hum Genet 2014;95:257-74.
-
(2014)
Am J Hum Genet
, vol.95
, pp. 257-274
-
-
Hjeij, R.1
Onoufriadis, A.2
Watson, C.M.3
Slagle, C.E.4
Klena, N.T.5
Dougherty, G.W.6
Kurkowiak, M.7
Loges, N.T.8
Diggle, C.P.9
Morante, N.F.10
Gabriel, G.C.11
Lemke, K.L.12
Li, Y.13
Pennekamp, P.14
Menchen, T.15
Konert, F.16
Marthin, J.K.17
Mans, D.A.18
Letteboer, S.J.19
Werner, C.20
Burgoyne, T.21
Westermann, C.22
Rutman, A.23
Carr, I.M.24
O'Callaghan, C.25
Moya, E.26
Chung, E.M.27
Sheridan, E.28
Nielsen, K.G.29
Roepman, R.30
Bartscherer, K.31
Burdine, R.D.32
Lo, C.W.33
Omran, H.34
Mitchison, H.M.35
more..
-
73
-
-
84911454844
-
Nonsense mutation in coiled coil domain containing 151 gene (CCDC151) causes Primary ciliary dyskinesia.
-
Published Online First: 16 September 2014
-
Alsaadi MM, Erzurumluoglu AM, Rodriguez S, Guthrie PA, Gaunt TR, Omar HZ, Mubarak M, Alharbi KK, Al-Rikabi AC, Day IN. Nonsense mutation in coiled coil domain containing 151 gene (CCDC151) causes Primary ciliary dyskinesia. Hum Mutat 2014. Published Online First: 16 September 2014. doi:10.1002/humu. 22698
-
(2014)
Hum Mutat
-
-
Alsaadi, M.M.1
Erzurumluoglu, A.M.2
Rodriguez, S.3
Guthrie, P.A.4
Gaunt, T.R.5
Omar, H.Z.6
Mubarak, M.7
Alharbi, K.K.8
Al-Rikabi, A.C.9
Day, I.N.10
-
74
-
-
84861640948
-
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
-
Panizzi J, Becker-Heck A, Castleman VH, Al-Mutairi D, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Häffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet 2013;44:714-19.
-
(2013)
Nat Genet
, vol.44
, pp. 714-719
-
-
Panizzi, J.1
Becker-Heck, A.2
Castleman, V.H.3
Al-Mutairi, D.4
Liu, Y.5
Loges, N.T.6
Pathak, N.7
Austin-Tse, C.8
Sheridan, E.9
Schmidts, M.10
Olbrich, H.11
Werner, C.12
Häffner, K.13
Hellman, N.14
Chodhari, R.15
Gupta, A.16
Kramer-Zucker, A.17
Olale, F.18
Burdine, R.D.19
Schier, A.F.20
O'Callaghan, C.21
Chung, E.M.22
Reinhardt, R.23
Mitchison, H.M.24
King, S.M.25
Omran, H.26
Drummond, I.A.27
more..
-
75
-
-
57349137660
-
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
-
Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, Takeda H. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature 2008;456:611-16.
-
(2008)
Nature
, vol.456
, pp. 611-616
-
-
Omran, H.1
Kobayashi, D.2
Olbrich, H.3
Tsukahara, T.4
Loges, N.T.5
Hagiwara, H.6
Zhang, Q.7
Leblond, G.8
O'Toole, E.9
Hara, C.10
Mizuno, H.11
Kawano, H.12
Fliegauf, M.13
Yagi, T.14
Koshida, S.15
Miyawaki, A.16
Zentgraf, H.17
Seithe, H.18
Reinhardt, R.19
Watanabe, Y.20
Kamiya, R.21
Mitchell, D.R.22
Takeda, H.23
more..
-
76
-
-
84859436123
-
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
-
Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet 2012;44:381-9.
-
(2012)
Nat Genet
, vol.44
, pp. 381-389
-
-
Mitchison, H.M.1
Schmidts, M.2
Loges, N.T.3
Freshour, J.4
Dritsoula, A.5
Hirst, R.A.6
O'Callaghan, C.7
Blau, H.8
Al Dabbagh, M.9
Olbrich, H.10
Beales, P.L.11
Yagi, T.12
Mussaffi, H.13
Chung, E.M.14
Omran, H.15
Mitchell, D.R.16
-
77
-
-
84883446171
-
DYX1C1 is required for axonemal dynein assembly and ciliary motility
-
Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K; UK10K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 2013;45:995-1003.
-
(2013)
Nat Genet
, vol.45
, pp. 995-1003
-
-
Tarkar, A.1
Loges, N.T.2
Slagle, C.E.3
Francis, R.4
Dougherty, G.W.5
Tamayo, J.V.6
Shook, B.7
Cantino, M.8
Schwartz, D.9
Jahnke, C.10
Olbrich, H.11
Werner, C.12
Raidt, J.13
Pennekamp, P.14
Abouhamed, M.15
Hjeij, R.16
Köhler, G.17
Griese, M.18
Li, Y.19
Lemke, K.20
Klena, N.21
Liu, X.22
Gabriel, G.23
Tobita, K.24
Jaspers, M.25
Morgan, L.C.26
Shapiro, A.J.27
Letteboer, S.J.28
Mans, D.A.29
Carson, J.L.30
Leigh, M.W.31
Wolf, W.E.32
Chen, S.33
Lucas, J.S.34
Onoufriadis, A.35
Plagnol, V.36
Schmidts, M.37
Boldt, K.38
Roepman, R.39
Zariwala, M.A.40
Lo, C.W.41
Mitchison, H.M.42
Knowles, M.R.43
Burdine, R.D.44
Loturco, J.J.45
Omran, H.46
more..
-
78
-
-
84867259922
-
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia
-
Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet 2012;91:685-93.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 685-693
-
-
Horani, A.1
Druley, T.E.2
Zariwala, M.A.3
Patel, A.C.4
Levinson, B.T.5
Van Arendonk, L.G.6
Thornton, K.C.7
Giacalone, J.C.8
Albee, A.J.9
Wilson, K.S.10
Turner, E.H.11
Nickerson, D.A.12
Shendure, J.13
Bayly, P.V.14
Leigh, M.W.15
Knowles, M.R.16
Brody, S.L.17
Dutcher, S.K.18
Ferkol, T.W.19
-
79
-
-
84868384681
-
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia
-
Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Touré A, Escudier E, Amselem S. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet 2012;91:958-64.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 958-964
-
-
Kott, E.1
Duquesnoy, P.2
Copin, B.3
Legendre, M.4
Dastot-Le Moal, F.5
Montantin, G.6
Jeanson, L.7
Tamalet, A.8
Papon, J.F.9
Siffroi, J.P.10
Rives, N.11
Mitchell, V.12
de Blic, J.13
Coste, A.14
Clement, A.15
Escalier, D.16
Touré, A.17
Escudier, E.18
Amselem, S.19
-
80
-
-
84875099215
-
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects
-
Horani A, Ferkol TW, Shoseyov D, Wasserman MG, Oren YS, Kerem B, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Brody SL, Elpeleg O, Kerem E. LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. PLoS ONE 2013;8:e59436.
-
(2013)
PLoS ONE
, vol.8
, pp. e59436
-
-
Horani, A.1
Ferkol, T.W.2
Shoseyov, D.3
Wasserman, M.G.4
Oren, Y.S.5
Kerem, B.6
Amirav, I.7
Cohen-Cymberknoh, M.8
Dutcher, S.K.9
Brody, S.L.10
Elpeleg, O.11
Kerem, E.12
-
81
-
-
84881667611
-
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia
-
Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, Zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Am J Hum Genet 2013;93:346-56.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 346-356
-
-
Moore, D.J.1
Onoufriadis, A.2
Shoemark, A.3
Simpson, M.A.4
Zur Lage, P.I.5
de Castro, S.C.6
Bartoloni, L.7
Gallone, G.8
Petridi, S.9
Woollard, W.J.10
Antony, D.11
Schmidts, M.12
Didonna, T.13
Makrythanasis, P.14
Bevillard, J.15
Mongan, N.P.16
Djakow, J.17
Pals, G.18
Lucas, J.S.19
Marthin, J.K.20
Nielsen, K.G.21
Santoni, F.22
Guipponi, M.23
Hogg, C.24
Antonarakis, S.E.25
Emes, R.D.26
Chung, E.M.27
Greene, N.D.28
Blouin, J.L.29
Jarman, A.P.30
Mitchison, H.M.31
more..
-
82
-
-
84885302492
-
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms
-
Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet 2013;93:711-20.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 711-720
-
-
Knowles, M.R.1
Ostrowski, L.E.2
Loges, N.T.3
Hurd, T.4
Leigh, M.W.5
Huang, L.6
Wolf, W.E.7
Carson, J.L.8
Hazucha, M.J.9
Yin, W.10
Davis, S.D.11
Dell, S.D.12
Ferkol, T.W.13
Sagel, S.D.14
Olivier, K.N.15
Jahnke, C.16
Olbrich, H.17
Werner, C.18
Raidt, J.19
Wallmeier, J.20
Pennekamp, P.21
Dougherty, G.W.22
Hjeij, R.23
Gee, H.Y.24
Otto, E.A.25
Halbritter, J.26
Chaki, M.27
Diaz, K.A.28
Braun, D.A.29
Porath, J.D.30
Schueler, M.31
Baktai, G.32
Griese, M.33
Turner, E.H.34
Lewis, A.P.35
Bamshad, M.J.36
Nickerson, D.A.37
Hildebrandt, F.38
Shendure, J.39
Omran, H.40
Zariwala, M.A.41
more..
-
83
-
-
84885225078
-
Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia
-
Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F. Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia. Am J Hum Genet 2013;93:672-86.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 672-686
-
-
Austin-Tse, C.1
Halbritter, J.2
Zariwala, M.A.3
Gilberti, R.M.4
Gee, H.Y.5
Hellman, N.6
Pathak, N.7
Liu, Y.8
Panizzi, J.R.9
Patel-King, R.S.10
Tritschler, D.11
Bower, R.12
O'Toole, E.13
Porath, J.D.14
Hurd, T.W.15
Chaki, M.16
Diaz, K.A.17
Kohl, S.18
Lovric, S.19
Hwang, D.Y.20
Braun, D.A.21
Schueler, M.22
Airik, R.23
Otto, E.A.24
Leigh, M.W.25
Noone, P.G.26
Carson, J.L.27
Davis, S.D.28
Pittman, J.E.29
Ferkol, T.W.30
Atkinson, J.J.31
Olivier, K.N.32
Sagel, S.D.33
Dell, S.D.34
Rosenfeld, M.35
Milla, C.E.36
Loges, N.T.37
Omran, H.38
Porter, M.E.39
King, S.M.40
Knowles, M.R.41
Drummond, I.A.42
Hildebrandt, F.43
more..
-
84
-
-
84864079368
-
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
-
Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. J Med Genet 2011;49:410-16.
-
(2011)
J Med Genet
, vol.49
, pp. 410-416
-
-
Blanchon, S.1
Legendre, M.2
Copin, B.3
Duquesnoy, P.4
Montantin, G.5
Kott, E.6
Dastot, F.7
Jeanson, L.8
Cachanado, M.9
Rousseau, A.10
Papon, J.F.11
Beydon, N.12
Brouard, J.13
Crestani, B.14
Deschildre, A.15
Désir, J.16
Dollfus, H.17
Leheup, B.18
Tamalet, A.19
Thumerelle, C.20
Vojtek, A.M.21
Escalier, D.22
Coste, A.23
de Blic, J.24
Clément, A.25
Escudier, E.26
Amselem, S.27
more..
-
85
-
-
78651254549
-
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
-
Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet 2011;43:79-84.
-
(2011)
Nat Genet
, vol.43
, pp. 79-84
-
-
Becker-Heck, A.1
Zohn, I.E.2
Okabe, N.3
Pollock, A.4
Lenhart, K.B.5
Sullivan-Brown, J.6
McSheene, J.7
Loges, N.T.8
Olbrich, H.9
Haeffner, K.10
Fliegauf, M.11
Horvath, J.12
Reinhardt, R.13
Nielsen, K.G.14
Marthin, J.K.15
Baktai, G.16
Anderson, K.V.17
Geisler, R.18
Niswander, L.19
Omran, H.20
Burdine, R.D.21
more..
-
86
-
-
84874658994
-
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
-
Wirschell M, Olbrich H, Werner C, Tritschler D, Bower R, Sale WS, Loges NT, Pennekamp P, Lindberg S, Stenram U, Carlén B, Horak E, Köhler G, Nürnberg P, Nürnberg G, Porter ME, Omran H. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet 2013;45:262-8.
-
(2013)
Nat Genet
, vol.45
, pp. 262-268
-
-
Wirschell, M.1
Olbrich, H.2
Werner, C.3
Tritschler, D.4
Bower, R.5
Sale, W.S.6
Loges, N.T.7
Pennekamp, P.8
Lindberg, S.9
Stenram, U.10
Carlén, B.11
Horak, E.12
Köhler, G.13
Nürnberg, P.14
Nürnberg, G.15
Porter, M.E.16
Omran, H.17
-
87
-
-
62649153946
-
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause PCD with central-microtubular-pair abnormalities
-
Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause PCD with central-microtubular-pair abnormalities. AJHG 2009;84:197-209.
-
(2009)
AJHG
, vol.84
, pp. 197-209
-
-
Castleman, V.H.1
Romio, L.2
Chodhari, R.3
Hirst, R.A.4
de Castro, S.C.5
Parker, K.A.6
Ybot-Gonzalez, P.7
Emes, R.D.8
Wilson, S.W.9
Wallis, C.10
Johnson, C.A.11
Herrera, R.J.12
Rutman, A.13
Dixon, M.14
Shoemark, A.15
Bush, A.16
Hogg, C.17
Gardiner, R.M.18
Reish, O.19
Greene, N.D.20
O'Callaghan, C.21
Purton, S.22
Chung, E.M.23
Mitchison, H.M.24
more..
-
88
-
-
84858640292
-
Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients
-
Zietkiewicz E, Bukowy-Bieryllo Z, Voelkel K, Klimek B, Dmenska H, Pogorzelski A, Sulikowska-Rowinska A, Rutkiewicz E, Witt M. Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. PLoS ONE 2012;7:e33667.
-
(2012)
PLoS ONE
, vol.7
-
-
Zietkiewicz, E.1
Bukowy-Bieryllo, Z.2
Voelkel, K.3
Klimek, B.4
Dmenska, H.5
Pogorzelski, A.6
Sulikowska-Rowinska, A.7
Rutkiewicz, E.8
Witt, M.9
-
89
-
-
84883827169
-
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects
-
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet 2013;93:561-70.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 561-570
-
-
Kott, E.1
Legendre, M.2
Copin, B.3
Papon, J.F.4
Dastot-Le Moal, F.5
Montantin, G.6
Duquesnoy, P.7
Piterboth, W.8
Amram, D.9
Bassinet, L.10
Beucher, J.11
Beydon, N.12
Deneuville, E.13
Houdouin, V.14
Journel, H.15
Just, J.16
Nathan, N.17
Tamalet, A.18
Collot, N.19
Jeanson, L.20
Le Gouez, M.21
Vallette, B.22
Vojtek, A.M.23
Epaud, R.24
Coste, A.25
Clement, A.26
Housset, B.27
Louis, B.28
Escudier, E.29
Amselem, S.30
more..
-
90
-
-
84902333630
-
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects
-
Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K, Bouvagnet P, Mitchison HM. Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. Hum Mol Genet 2014;23:3362-74.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 3362-3374
-
-
Onoufriadis, A.1
Shoemark, A.2
Schmidts, M.3
Patel, M.4
Jimenez, G.5
Liu, H.6
Thomas, B.7
Dixon, M.8
Hirst, R.A.9
Rutman, A.10
Burgoyne, T.11
Williams, C.12
Scully, J.13
Bolard, F.14
Lafitte, J.J.15
Beales, P.L.16
Hogg, C.17
Yang, P.18
Chung, E.M.19
Emes, R.D.20
O'Callaghan, C.21
Bouvagnet, P.22
Mitchison, H.M.23
more..
-
91
-
-
84896534982
-
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype
-
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 2014;189:707-17.
-
(2014)
Am J Respir Crit Care Med
, vol.189
, pp. 707-717
-
-
Knowles, M.R.1
Ostrowski, L.E.2
Leigh, M.W.3
Sears, P.R.4
Davis, S.D.5
Wolf, W.E.6
Hazucha, M.J.7
Carson, J.L.8
Olivier, K.N.9
Sagel, S.D.10
Rosenfeld, M.11
Ferkol, T.W.12
Dell, S.D.13
Milla, C.E.14
Randell, S.H.15
Yin, W.16
Sannuti, A.17
Metjian, H.M.18
Noone, P.G.19
Noone, P.J.20
Olson, C.A.21
Patrone, M.V.22
Dang, H.23
Lee, H.S.24
Hurd, T.W.25
Gee, H.Y.26
Otto, E.A.27
Halbritter, J.28
Kohl, S.29
Kircher, M.30
Krischer, J.31
Bamshad, M.J.32
Nickerson, D.A.33
Hildebrandt, F.34
Shendure, J.35
Zariwala, M.A.36
more..
-
92
-
-
84867244938
-
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
-
Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME; UK10K Consortium, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet 2012;91:672-84.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 672-684
-
-
Olbrich, H.1
Schmidts, M.2
Werner, C.3
Onoufriadis, A.4
Loges, N.T.5
Raidt, J.6
Banki, N.F.7
Shoemark, A.8
Burgoyne, T.9
Al Turki, S.10
Hurles, M.E.11
Köhler, G.12
Schroeder, J.13
Nürnberg, G.14
Nürnberg, P.15
Chung, E.M.16
Reinhardt, R.17
Marthin, J.K.18
Nielsen, K.G.19
Mitchison, H.M.20
Omran, H.21
more..
-
93
-
-
0042235314
-
Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia
-
Chilvers MA, Rutman A, O'Callaghan C. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J Allergy Clin Immunol 2003;112:518-24.
-
(2003)
J Allergy Clin Immunol
, vol.112
, pp. 518-524
-
-
Chilvers, M.A.1
Rutman, A.2
O'Callaghan, C.3
-
94
-
-
84884535109
-
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia
-
Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, Dell SD, Eriksson M, Collins FS, Knowles MR, Zariwala MA. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat 2013;34:1352-6.
-
(2013)
Hum Mutat
, vol.34
, pp. 1352-1356
-
-
Daniels, M.L.1
Leigh, M.W.2
Davis, S.D.3
Armstrong, M.C.4
Carson, J.L.5
Hazucha, M.6
Dell, S.D.7
Eriksson, M.8
Collins, F.S.9
Knowles, M.R.10
Zariwala, M.A.11
-
95
-
-
84857054679
-
Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD
-
Lucas JS, Adam EC, Goggin PM, Jackson CL, Powles-Glover N, Patel SH, Humphreys J, Fray MD, Falconnet E, Blouin JL, Cheeseman MT, Bartoloni L, Norris DP, Lackie PM. Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. Hum Mutat 2012;33:495-503.
-
(2012)
Hum Mutat
, vol.33
, pp. 495-503
-
-
Lucas, J.S.1
Adam, E.C.2
Goggin, P.M.3
Jackson, C.L.4
Powles-Glover, N.5
Patel, S.H.6
Humphreys, J.7
Fray, M.D.8
Falconnet, E.9
Blouin, J.L.10
Cheeseman, M.T.11
Bartoloni, L.12
Norris, D.P.13
Lackie, P.M.14
-
96
-
-
84886402463
-
Primary ciliary dyskinesia
-
Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med 2013;188:913-22.
-
(2013)
Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med
, vol.188
, pp. 913-922
-
-
Knowles, M.R.1
Daniels, L.A.2
Davis, S.D.3
Zariwala, M.A.4
Leigh, M.W.5
-
97
-
-
84906940471
-
Diagnosis and management of primary ciliary dyskinesia
-
Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; National PCD Service, UK. Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child 2014;99:850-6.
-
(2014)
Arch Dis Child
, vol.99
, pp. 850-856
-
-
Lucas, J.S.1
Burgess, A.2
Mitchison, H.M.3
Moya, E.4
Williamson, M.5
Hogg, C.6
-
98
-
-
77953259866
-
Nucleotide-induced global conformational changes of flagellar dynein arms revealed by in situ analysis
-
Movassagh T, Bui K, Sakakibara H, Oiwa K, Ishikawa T. Nucleotide-induced global conformational changes of flagellar dynein arms revealed by in situ analysis. Nat Struct Mol Biol 2010;17:761-8.
-
(2010)
Nat Struct Mol Biol
, vol.17
, pp. 761-768
-
-
Movassagh, T.1
Bui, K.2
Sakakibara, H.3
Oiwa, K.4
Ishikawa, T.5
-
99
-
-
55549138065
-
Three members of the LC8/DYNLL family are required for outer arm dynein motor function
-
Tanner C, Rompolas P, Patel-King R, Gorbatyuk O, Wakabayashi K, Pazour G, King S. Three members of the LC8/DYNLL family are required for outer arm dynein motor function. Mol Biol Cell 2008;19:3724-34.
-
(2008)
Mol Biol Cell
, vol.19
, pp. 3724-3734
-
-
Tanner, C.1
Rompolas, P.2
Patel-King, R.3
Gorbatyuk, O.4
Wakabayashi, K.5
Pazour, G.6
King, S.7
-
100
-
-
84855367790
-
Three-dimensional structure of the radial spokes reveals heterogeneity and interactions with dyneins in Chlamydomonas flagella
-
Barber C, Heuser T, Carbajal-González B, Botchkarev VJ, Nicastro D. Three-dimensional structure of the radial spokes reveals heterogeneity and interactions with dyneins in Chlamydomonas flagella. Mol Biol Cell 2012;23:111-20.
-
(2012)
Mol Biol Cell
, vol.23
, pp. 111-120
-
-
Barber, C.1
Heuser, T.2
Carbajal-González, B.3
Botchkarev, V.J.4
Nicastro, D.5
-
101
-
-
84865311801
-
Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure
-
O'Toole E, Giddings TJ, Porter M, Ostrowski L. Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure. Cytoskeleton (Hoboken) 2012;69:577-90.
-
(2012)
Cytoskeleton (Hoboken)
, vol.69
, pp. 577-590
-
-
O'Toole, E.1
Giddings, T.J.2
Porter, M.3
Ostrowski, L.4
|