-
1
-
-
0002250323
-
Autosomal recessive polycystic kidney disease: Clinical and genetic profiles
-
M.L. Watson, & V.E. Torres. New York: Oxford University Press
-
Guay-Woodford L.M. Autosomal recessive polycystic kidney disease: clinical and genetic profiles. Watson M.L., Torres V.E. Polycystic Kidney Disease. 1996;237-266 Oxford University Press, New York.
-
(1996)
Polycystic Kidney Disease
, pp. 237-266
-
-
Guay-Woodford, L.M.1
-
3
-
-
0031972263
-
Autosomal recessive polycystic kidney disease
-
Zerres K., Rudnik-Schöneborn S., Steinkamm C., Becker J., Mücher G. Autosomal recessive polycystic kidney disease. J. Mol. Med. 76:1998;303-309.
-
(1998)
J. Mol. Med.
, vol.76
, pp. 303-309
-
-
Zerres, K.1
Rudnik-Schöneborn, S.2
Steinkamm, C.3
Becker, J.4
Mücher, G.5
-
4
-
-
0000608593
-
Polycystic diseases of the kidney
-
second ed. Edelmann C.M. Boston: Little, Brown
-
Bernstein J., Slovis T.L. Polycystic diseases of the kidney. second ed. Edelmann C.M. Pediatric Kidney Disease. vol. 2:1992;1139-1157 Little, Brown, Boston.
-
(1992)
Pediatric Kidney Disease
, vol.2
, pp. 1139-1157
-
-
Bernstein, J.1
Slovis, T.L.2
-
5
-
-
0001646044
-
Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of interstitial portions of the collecting tubules
-
Osathanondh V., Potter E.L. Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of interstitial portions of the collecting tubules. Arch. Pathol. 77:1964;466-473.
-
(1964)
Arch. Pathol.
, vol.77
, pp. 466-473
-
-
Osathanondh, V.1
Potter, E.L.2
-
6
-
-
0017439443
-
The ductal plate malformation: A study of the intrahepatic bile duct lesion in infantile polycystic disease and congenital hepatic fibrosis
-
Jorgensen M.J. The ductal plate malformation: a study of the intrahepatic bile duct lesion in infantile polycystic disease and congenital hepatic fibrosis. Acta Pathol. Microbiol. Scand. Suppl. 1977;1-87.
-
(1977)
Acta Pathol. Microbiol. Scand. Suppl
, pp. 1-87
-
-
Jorgensen, M.J.1
-
7
-
-
0015123650
-
Polycystic disease of kidneys and liver presenting in childhood
-
Blyth H., Ockenden B.G. Polycystic disease of kidneys and liver presenting in childhood. J. Med. Genet. 8:1971;257-284.
-
(1971)
J. Med. Genet.
, vol.8
, pp. 257-284
-
-
Blyth, H.1
Ockenden, B.G.2
-
8
-
-
0028282550
-
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen
-
Zerres K., Mücher G., Bachner L., Deschennes G., Eggermann T., Kääriäinen H., Knapp M., Lennert T., Misselwitz J., von Mühlendahl K.E., Neumann H.P.H., Pirson Y., Rudnik-Schöneborn S., Steinbicker V., Wirth B., Schärer K. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat. Genet. 7:1994;429-432.
-
(1994)
Nat. Genet.
, vol.7
, pp. 429-432
-
-
Zerres, K.1
Mücher, G.2
Bachner, L.3
Deschennes, G.4
Eggermann, T.5
Kääriäinen, H.6
Knapp, M.7
Lennert, T.8
Misselwitz, J.9
Von Mühlendahl, K.E.10
Neumann, H.P.H.11
Pirson, Y.12
Rudnik-Schöneborn, S.13
Steinbicker, V.14
Wirth, B.15
Schärer, K.16
-
9
-
-
0032485302
-
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology
-
Zerres K., Mücher G., Becker J., Steinkamm C., Rudnik- Schöneborn S., Heikkilä P., Rapola J., Salonen R., Germino G.G., Onuchic L., Somlo S., Avner E.D., Harman L.A., Stockwin J.M., Guay-Woodford L.M. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am. J. Med. Genet. 76:1998;137-144.
-
(1998)
Am. J. Med. Genet.
, vol.76
, pp. 137-144
-
-
Zerres, K.1
Mücher, G.2
Becker, J.3
Steinkamm, C.4
Rudnik-Schöneborn, S.5
Heikkilä, P.6
Rapola, J.7
Salonen, R.8
Germino, G.G.9
Onuchic, L.10
Somlo, S.11
Avner, E.D.12
Harman, L.A.13
Stockwin, J.M.14
Guay-Woodford, L.M.15
-
10
-
-
18344366124
-
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin- transcription-factor domains and parallel beta-helix 1 repeats
-
Onuchic L.F., Furu L., Nagasawa Y., Hou X., Eggermann T., Ren Z., Bergmann C., Senderek J., Esquivel E., Zeltner R., Rudnik-Schoneborn S., Mrug M., Sweeney W., Avner E.D., Zerres K., Guay-Woodford L.M., Somlo S., Germino G.G. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin- transcription-factor domains and parallel beta-helix 1 repeats. Am. J. Hum. Genet. 70:2002;1305-1317.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1305-1317
-
-
Onuchic, L.F.1
Furu, L.2
Nagasawa, Y.3
Hou, X.4
Eggermann, T.5
Ren, Z.6
Bergmann, C.7
Senderek, J.8
Esquivel, E.9
Zeltner, R.10
Rudnik-Schoneborn, S.11
Mrug, M.12
Sweeney, W.13
Avner, E.D.14
Zerres, K.15
Guay-Woodford, L.M.16
Somlo, S.17
Germino, G.G.18
-
11
-
-
0036509712
-
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
-
Ward C.J., Hogan M.C., Rossetti S., Walker D., Sneddon T., Wang X., Kubly V., Cunningham J.M., Bacallao R., Ishibashi M., Milliner D.S., Torres V.E., Harris P.C. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat. Genet. 30:2002;259-269.
-
(2002)
Nat. Genet.
, vol.30
, pp. 259-269
-
-
Ward, C.J.1
Hogan, M.C.2
Rossetti, S.3
Walker, D.4
Sneddon, T.5
Wang, X.6
Kubly, V.7
Cunningham, J.M.8
Bacallao, R.9
Ishibashi, M.10
Milliner, D.S.11
Torres, V.E.12
Harris, P.C.13
-
12
-
-
12244300887
-
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
-
Bergmann C., Senderek J., Sedlacek B., Pegiazoglou I., Puglia P., Eggermann T., Rudnik-Schneborn S., Furu L., Onuchic L.F., De Baca M., Germino G.G., Guay-Woodford L., Somlo S., Moser M., Buttner R., Zerres K. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J. Am. Soc. Nephrol. 14:2003;76-89.
-
(2003)
J. Am. Soc. Nephrol.
, vol.14
, pp. 76-89
-
-
Bergmann, C.1
Senderek, J.2
Sedlacek, B.3
Pegiazoglou, I.4
Puglia, P.5
Eggermann, T.6
Rudnik-Schneborn, S.7
Furu, L.8
Onuchic, L.F.9
De Baca, M.10
Germino, G.G.11
Guay-Woodford, L.12
Somlo, S.13
Moser, M.14
Buttner, R.15
Zerres, K.16
-
13
-
-
0042844709
-
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
-
Furu L., Onuchic L.F., Gharavi A.G., Hou X., Esquivel E.L., Nagasawa Y., Bergmann C., Senderek J., Avner E., Zerres K., Germino G.G., Guay-Woodford L.M., Somlo S. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J. Am. Soc. Nephrol. 14:2003;2004-2014.
-
(2003)
J. Am. Soc. Nephrol.
, vol.14
, pp. 2004-2014
-
-
Furu, L.1
Onuchic, L.F.2
Gharavi, A.G.3
Hou, X.4
Esquivel, E.L.5
Nagasawa, Y.6
Bergmann, C.7
Senderek, J.8
Avner, E.9
Zerres, K.10
Germino, G.G.11
Guay-Woodford, L.M.12
Somlo, S.13
-
14
-
-
10744226026
-
A complete mutation screen of PKHD1 in autosomal recessive polycystic kidney pedigrees
-
Rossetti S., Torra R., Coto E., Consugar M., Kubly V., Malaga S., Narvarro M., El-Youssef M., Torres V., Harris P.C. A complete mutation screen of PKHD1 in autosomal recessive polycystic kidney pedigrees. Kidney Int. 64:2003;391-403.
-
(2003)
Kidney Int.
, vol.64
, pp. 391-403
-
-
Rossetti, S.1
Torra, R.2
Coto, E.3
Consugar, M.4
Kubly, V.5
Malaga, S.6
Narvarro, M.7
El-Youssef, M.8
Torres, V.9
Harris, P.C.10
-
16
-
-
0002235541
-
Polycystic kidney disease
-
T.M. Barratt, E.D. Avner, & W.E. Harmon. Baltimore: Lippincott, Williams and Wilkins
-
McDonald R., Watkins S.L., Avner E.D. Polycystic kidney disease. Barratt T.M., Avner E.D., Harmon W.E. Pediatric Nephrology. fourth ed. 1999;459-480 Lippincott, Williams and Wilkins, Baltimore.
-
(1999)
Pediatric Nephrology Fourth Ed.
, pp. 459-480
-
-
McDonald, R.1
Watkins, S.L.2
Avner, E.D.3
-
17
-
-
0023705784
-
Dominant and recessive polycystic kidney disease in children: Evaluation of clinical features and laboratory data
-
Kaariainen H., Koskimies O., Norio R. Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data. Pediatr. Nephrol. 2:1988;296-302.
-
(1988)
Pediatr. Nephrol.
, vol.2
, pp. 296-302
-
-
Kaariainen, H.1
Koskimies, O.2
Norio, R.3
-
18
-
-
0015086440
-
Infantile polycystic disease of the kidneys and liver: Clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis
-
Lieberman E., Salinas-Madrigal L., Gwinn J.L., Brennan L.P., Fine R.N., Landing B.H. Infantile polycystic disease of the kidneys and liver: clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis. Medicine. 50:1971;277-318.
-
(1971)
Medicine
, vol.50
, pp. 277-318
-
-
Lieberman, E.1
Salinas-Madrigal, L.2
Gwinn, J.L.3
Brennan, L.P.4
Fine, R.N.5
Landing, B.H.6
-
19
-
-
0038263816
-
Autosomal recessive polycystic kidney disease: Outcomes from a single-center experience
-
Capisonda R., Phan V., Traubuci J., Daneman A., Balfe J.W., Guay-Woodford L.M. Autosomal recessive polycystic kidney disease: outcomes from a single-center experience. Pediatr. Nephrol. 18:2003;119-126.
-
(2003)
Pediatr. Nephrol.
, vol.18
, pp. 119-126
-
-
Capisonda, R.1
Phan, V.2
Traubuci, J.3
Daneman, A.4
Balfe, J.W.5
Guay-Woodford, L.M.6
-
20
-
-
0038304401
-
Autosomal recessive polycystic kidney disease: The clinical experience in North America
-
Guay-Woodford L.M., Desmond R.A. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 111:2003;1072-1080.
-
(2003)
Pediatrics
, vol.111
, pp. 1072-1080
-
-
Guay-Woodford, L.M.1
Desmond, R.A.2
-
21
-
-
0030957715
-
Autosomal recessive polycystic kidney disease: Long-term outcome of neonatal survivors
-
Roy S., Dillon M.J., Trompeter R.S., Barratt T.M. Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors. Pediatr. Nephrol. 11:1997;302-306.
-
(1997)
Pediatr. Nephrol.
, vol.11
, pp. 302-306
-
-
Roy, S.1
Dillon, M.J.2
Trompeter, R.S.3
Barratt, T.M.4
-
22
-
-
0024571051
-
Cystic renal diseases in children
-
Gagnadoux M.F., Habib R., Levy M., Brunelle F., Broyer M. Cystic renal diseases in children. Adv. Nephrol. Necker Hosp. 18:1989;33-57.
-
(1989)
Adv. Nephrol. Necker Hosp.
, vol.18
, pp. 33-57
-
-
Gagnadoux, M.F.1
Habib, R.2
Levy, M.3
Brunelle, F.4
Broyer, M.5
-
23
-
-
0024546662
-
Autosomal recessive polycystic kidney disease
-
Kaplan B.S., Fay J., Shah V., Dillon M.J., Barratt T.M. Autosomal recessive polycystic kidney disease. Pediatr. Nephrol. 3:1989;43-49.
-
(1989)
Pediatr. Nephrol.
, vol.3
, pp. 43-49
-
-
Kaplan, B.S.1
Fay, J.2
Shah, V.3
Dillon, M.J.4
Barratt, T.M.5
-
24
-
-
0023940456
-
Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family
-
Kaplan B.S., Kaplan P., de Chadarevian J.P., Jequier S., O'Regan S., Russo P. Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. Am. J. Med. Genet. 29:1988;639-647.
-
(1988)
Am. J. Med. Genet.
, vol.29
, pp. 639-647
-
-
Kaplan, B.S.1
Kaplan, P.2
De Chadarevian, J.P.3
Jequier, S.4
O'Regan, S.5
Russo, P.6
-
25
-
-
84872623412
-
Facial characteristics of infants with bilateral renal agenesis
-
Potter E.L. Facial characteristics of infants with bilateral renal agenesis. Am. J. Obstet. Gynecol. 51:1964;885-888.
-
(1964)
Am. J. Obstet. Gynecol.
, vol.51
, pp. 885-888
-
-
Potter, E.L.1
-
26
-
-
0023552213
-
Polycystic kidney disease in the first year of life
-
Cole B.R., Conley S.B., Stapleton F.B. Polycystic kidney disease in the first year of life. J. Pediatr. 111:1987;693-699.
-
(1987)
J. Pediatr.
, vol.111
, pp. 693-699
-
-
Cole, B.R.1
Conley, S.B.2
Stapleton, F.B.3
-
27
-
-
0034865003
-
Autosomal recessive polycystic kidney disease in adulthood
-
Fonck C., Chauveau D., Gagnadoux M.F., Pirson Y., Grunfeld J.P. Autosomal recessive polycystic kidney disease in adulthood. Nephrol. Dial. Transpl. 16:2001;1648-1652.
-
(2001)
Nephrol. Dial. Transpl.
, vol.16
, pp. 1648-1652
-
-
Fonck, C.1
Chauveau, D.2
Gagnadoux, M.F.3
Pirson, Y.4
Grunfeld, J.P.5
-
28
-
-
0029058140
-
Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: A clinical comparison of 20 sibships
-
Deget F., Rudnik-Schoneborn S., Zerres K. Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships. Clin. Genet. 47:1995;248-253.
-
(1995)
Clin. Genet.
, vol.47
, pp. 248-253
-
-
Deget, F.1
Rudnik-Schoneborn, S.2
Zerres, K.3
-
29
-
-
0028906290
-
The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: Implications for genetic counseling
-
Guay-Woodford L.M., Muecher G., Hopkins S.D., Avner E.D., Germino G.G., Guillot A.P., Herrin J., Holleman R., Irons D.A., Primack W., Thomson P.D., Waldo F.B., Lunt P.W., Zerres K. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Am. J. Hum. Genet. 56:1995;1101-1107.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1101-1107
-
-
Guay-Woodford, L.M.1
Muecher, G.2
Hopkins, S.D.3
Avner, E.D.4
Germino, G.G.5
Guillot, A.P.6
Herrin, J.7
Holleman, R.8
Irons, D.A.9
Primack, W.10
Thomson, P.D.11
Waldo, F.B.12
Lunt, P.W.13
Zerres, K.14
-
30
-
-
0031149142
-
An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region
-
Lens X.M., Onuchic L.F., Wu G., Hayashi T., Daoust M., Mochizuki T., Santarina L.B., Stockwin J.M., Mucher G., Becker J., Sweeny W.E. Jr., Avner E.D., Guay-Woodford L., Zerres K., Somlo S., Germino G.G. An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. Genomics. 41:1997;463-466.
-
(1997)
Genomics
, vol.41
, pp. 463-466
-
-
Lens, X.M.1
Onuchic, L.F.2
Wu, G.3
Hayashi, T.4
Daoust, M.5
Mochizuki, T.6
Santarina, L.B.7
Stockwin, J.M.8
Mucher, G.9
Becker, J.10
Sweeny, W.E.Jr.11
Avner, E.D.12
Guay-Woodford, L.13
Zerres, K.14
Somlo, S.15
Germino, G.G.16
-
31
-
-
0345215151
-
Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2b, and GSTA1 at 6p21.2-p12
-
Mücher G., Becker J., Knapp M., Büttner R., Moser M., Rudnik-Schöneborn S., Somlo S., Germino G., Onuchic L., Avner E., Guay-Woodford L., Zerres K. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2b, and GSTA1 at 6p21.2-p12. Genomics. 48:1998;40-45.
-
(1998)
Genomics
, vol.48
, pp. 40-45
-
-
Mücher, G.1
Becker, J.2
Knapp, M.3
Büttner, R.4
Moser, M.5
Rudnik-Schöneborn, S.6
Somlo, S.7
Germino, G.8
Onuchic, L.9
Avner, E.10
Guay-Woodford, L.11
Zerres, K.12
-
32
-
-
0344758343
-
A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6
-
Park J.H., Dixit M.P., Onuchic L.F., Wu G., Goncharuk A.N., Kneitz S., Santarina L.B., Hayashi T., Avner E.D., Guay-Woodford L., Zerres K., Germino G.G., Somlo S. A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. Genomics. 57:1999;249-255.
-
(1999)
Genomics
, vol.57
, pp. 249-255
-
-
Park, J.H.1
Dixit, M.P.2
Onuchic, L.F.3
Wu, G.4
Goncharuk, A.N.5
Kneitz, S.6
Santarina, L.B.7
Hayashi, T.8
Avner, E.D.9
Guay-Woodford, L.10
Zerres, K.11
Germino, G.G.12
Somlo, S.13
-
33
-
-
0032700360
-
Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene
-
Onuchic L.F., Mrug M., Lakings A.L., Muecher G., Becker J., Zerres K., Avner E.D., Dixit M., Somlo S., Germino G.G., Guay-Woodford L.M. Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene. Mammal Genome. 10:1999;1175-1178.
-
(1999)
Mammal Genome
, vol.10
, pp. 1175-1178
-
-
Onuchic, L.F.1
Mrug, M.2
Lakings, A.L.3
Muecher, G.4
Becker, J.5
Zerres, K.6
Avner, E.D.7
Dixit, M.8
Somlo, S.9
Germino, G.G.10
Guay-Woodford, L.M.11
-
34
-
-
18344413259
-
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease
-
Hofmann Y., Becker J., Wright F., Avner E.D., Mrug M., Guay-Woodford L.M., Somlo S., Zerres K., Germino G.G., Onuchic L.F. Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease. Eur. J. Hum. Genet. 8:2000;163-166.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 163-166
-
-
Hofmann, Y.1
Becker, J.2
Wright, F.3
Avner, E.D.4
Mrug, M.5
Guay-Woodford, L.M.6
Somlo, S.7
Zerres, K.8
Germino, G.G.9
Onuchic, L.F.10
-
35
-
-
18444378727
-
Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene
-
Onuchic L.F., Mrug M., Hou X., Eggermann T., Bergmann C., Zerres K., Avner E.D., Furu L., Somlo S., Nagasawa Y., Germino G.G., Guay-Woodford L.M. Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene. Am. J. Med. Genet. 110:2002;346-352.
-
(2002)
Am. J. Med. Genet.
, vol.110
, pp. 346-352
-
-
Onuchic, L.F.1
Mrug, M.2
Hou, X.3
Eggermann, T.4
Bergmann, C.5
Zerres, K.6
Avner, E.D.7
Furu, L.8
Somlo, S.9
Nagasawa, Y.10
Germino, G.G.11
Guay-Woodford, L.M.12
-
36
-
-
0028322016
-
Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice
-
Moyer J.H., Lee-Tischler M.J., Kwon H.-Y., Schrick J.J., Avner E.D., Sweeney W.E., Godfrey V.L., Cacheiro N.L.A., Wilkinson J.E., Woychik R.P. Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science. 263:1994;1329-1333.
-
(1994)
Science
, vol.263
, pp. 1329-1333
-
-
Moyer, J.H.1
Lee-Tischler, M.J.2
Kwon, H.-Y.3
Schrick, J.J.4
Avner, E.D.5
Sweeney, W.E.6
Godfrey, V.L.7
Cacheiro, N.L.A.8
Wilkinson, J.E.9
Woychik, R.P.10
-
37
-
-
0033672204
-
New rat model that phenotypically resembles autosomal recessive polycystic kidney disease
-
Nauta J., Goedbloed M.A., Van Herck H., Hesselink D.A., Visser P., Willemsen R., Van Dokkum R.P.E., Wright C.J., Guay-Woodford L.M. New rat model that phenotypically resembles autosomal recessive polycystic kidney disease. J. Am. Soc. Nephrol. 11:2000;2272-2284.
-
(2000)
J. Am. Soc. Nephrol.
, vol.11
, pp. 2272-2284
-
-
Nauta, J.1
Goedbloed, M.A.2
Van Herck, H.3
Hesselink, D.A.4
Visser, P.5
Willemsen, R.6
Van Dokkum, R.P.E.7
Wright, C.J.8
Guay-Woodford, L.M.9
-
38
-
-
0036177603
-
Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease
-
Hou X., Mrug M., Yoder B.K., Lefkowitz E.J., Kremmidiotis G., D'Eustachio P.D., Beier D.R., Guay-Woodford L.M. Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. J. Clin. Invest. 109:2002;533-540.
-
(2002)
J. Clin. Invest.
, vol.109
, pp. 533-540
-
-
Hou, X.1
Mrug, M.2
Yoder, B.K.3
Lefkowitz, E.J.4
Kremmidiotis, G.5
D'Eustachio, P.D.6
Beier, D.R.7
Guay-Woodford, L.M.8
-
39
-
-
0029828119
-
Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic
-
Guay-Woodford L.M., Bryda E.C., Christine B., Lindsey J.R., Collier W.R., Avner E.D., D'Eustachio P., Flaherty L. Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic. Kidney Int. 50:1996;1158-1165.
-
(1996)
Kidney Int.
, vol.50
, pp. 1158-1165
-
-
Guay-Woodford, L.M.1
Bryda, E.C.2
Christine, B.3
Lindsey, J.R.4
Collier, W.R.5
Avner, E.D.6
D'Eustachio, P.7
Flaherty, L.8
-
40
-
-
0042093746
-
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degenerationand hepatic fibrosis
-
Olbrich H., Fliegauf M., Hoefele J., Kispert A., Otto E., Volz A., Wolf M.T., Sasmaz G., Trauer T., Reinhardt R., Sudbrak R., Antignac C., Gretz N., Walz G., Schermer B., Benzing T., Hildebrandt F., Omran H. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degenerationand hepatic fibrosis. Nat. Genet. 34:2003;455-459.
-
(2003)
Nat. Genet.
, vol.34
, pp. 455-459
-
-
Olbrich, H.1
Fliegauf, M.2
Hoefele, J.3
Kispert, A.4
Otto, E.5
Volz, A.6
Wolf, M.T.7
Sasmaz, G.8
Trauer, T.9
Reinhardt, R.10
Sudbrak, R.11
Antignac, C.12
Gretz, N.13
Walz, G.14
Schermer, B.15
Benzing, T.16
Hildebrandt, F.17
Omran, H.18
-
41
-
-
0035171012
-
The pck rat: A new model that resembles human autosomal dominant polycystic kidney and liver disease
-
Lager D.J., Qian Q., Bengal R.J., Ishibashi M., Torres V.E. The pck rat: a new model that resembles human autosomal dominant polycystic kidney and liver disease. Kidney Int. 59:2001;126-136.
-
(2001)
Kidney Int.
, vol.59
, pp. 126-136
-
-
Lager, D.J.1
Qian, Q.2
Bengal, R.J.3
Ishibashi, M.4
Torres, V.E.5
-
42
-
-
0035023554
-
Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis
-
Sanzen T., Harada K., Yasoshima M., Kawamura Y., Ishibashi M., Nakanuma Y. Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. Am. J. Pathol. 158:2001;1605-1612.
-
(2001)
Am. J. Pathol.
, vol.158
, pp. 1605-1612
-
-
Sanzen, T.1
Harada, K.2
Yasoshima, M.3
Kawamura, Y.4
Ishibashi, M.5
Nakanuma, Y.6
-
43
-
-
0036707877
-
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
-
Nagasawa Y., Matthiesen S., Onuchic L.F., Hou X., Bergmann C., Esquivel E., Senderek J., Ren Z., Zeltner R., Furu L., Avner E., Moser M., Somlo S., Guay-Woodford L., Buttner R., Zerres K., Germino G.G. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. J. Am. Soc. Nephrol. 13:2002;2246-2258.
-
(2002)
J. Am. Soc. Nephrol.
, vol.13
, pp. 2246-2258
-
-
Nagasawa, Y.1
Matthiesen, S.2
Onuchic, L.F.3
Hou, X.4
Bergmann, C.5
Esquivel, E.6
Senderek, J.7
Ren, Z.8
Zeltner, R.9
Furu, L.10
Avner, E.11
Moser, M.12
Somlo, S.13
Guay-Woodford, L.14
Buttner, R.15
Zerres, K.16
Germino, G.G.17
-
44
-
-
0036286964
-
A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease
-
Xiong H., Chen Y., Yi Y., Tsuchiya K., Moeckel G., Cheung J., Liang D., Tham K., Xu X., Chen X.Z., Pei Y., Zhao Z.J., Wu G. A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. Genomics. 80:2002;96-104.
-
(2002)
Genomics
, vol.80
, pp. 96-104
-
-
Xiong, H.1
Chen, Y.2
Yi, Y.3
Tsuchiya, K.4
Moeckel, G.5
Cheung, J.6
Liang, D.7
Tham, K.8
Xu, X.9
Chen, X.Z.10
Pei, Y.11
Zhao, Z.J.12
Wu, G.13
-
45
-
-
0027279639
-
German working group on paediatric nephrology, childhood onset autosomal dominant polycystic kidney disease in sibs: Clinical picture and recurrence risk
-
Zerres K., Rudnik-Schöneborn S., Deget F. German working group on paediatric nephrology, childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. J. Med. Genet. 30:1993;583-588.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 583-588
-
-
Zerres, K.1
Rudnik-Schöneborn, S.2
Deget, F.3
-
46
-
-
0037900924
-
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
-
Johnson C.A., Gissen P., Sergi C. Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J. Med. Genet. 40:2003;311-319.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 311-319
-
-
Johnson, C.A.1
Gissen, P.2
Sergi, C.3
-
47
-
-
0037444219
-
PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression
-
Hogan M.C., Griffin M.D., Rossetti S., Torres V.E., Ward C.J., Harris P.C. PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression. Hum. Mol. Genet. 12:2003;685-689.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 685-689
-
-
Hogan, M.C.1
Griffin, M.D.2
Rossetti, S.3
Torres, V.E.4
Ward, C.J.5
Harris, P.C.6
-
48
-
-
0000586458
-
The nature and mechanisms of human gene mutation
-
C. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill
-
Cooper D.N., Krawczak M., Antonorakis S.E. The nature and mechanisms of human gene mutation. Scriver C., Beaudet A.L., Sly W.S., Valle D. Metabolic and Molecular Bases of Inherited Disease. seventh ed. 1995;259-291 McGraw-Hill, New York.
-
(1995)
Metabolic and Molecular Bases of Inherited Disease Seventh Ed.
, pp. 259-291
-
-
Cooper, D.N.1
Krawczak, M.2
Antonorakis, S.E.3
-
49
-
-
0036897388
-
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele
-
Tsukaguchi H., Sudhakar A., Le T.C., Nguyen T., Yao J., Schwimmer J.A., Schachter A.D., Poch E., Abreu P.F., Appel G.B., Pereira A.B., Kalluri R., Pollak M.R. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J. Clin. Invest. 110:2002;1659-1666.
-
(2002)
J. Clin. Invest.
, vol.110
, pp. 1659-1666
-
-
Tsukaguchi, H.1
Sudhakar, A.2
Le T., C.3
Nguyen, T.4
Yao, J.5
Schwimmer, J.A.6
Schachter, A.D.7
Poch, E.8
Abreu, P.F.9
Appel, G.B.10
Pereira, A.B.11
Kalluri, R.12
Pollak, M.R.13
-
50
-
-
0001290687
-
Domains in plexins: Links to integrins and transcription factors
-
Bork P., Doerks T., Springer T.A., Snel B. Domains in plexins: links to integrins and transcription factors. Trends Biochem. Sci. 24:1999;261-263.
-
(1999)
Trends Biochem. Sci.
, vol.24
, pp. 261-263
-
-
Bork, P.1
Doerks, T.2
Springer, T.A.3
Snel, B.4
-
51
-
-
0034603782
-
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2
-
Scott D.A., Drury S., Sundstrom R.A., Bishop J., Swiderski R.E., Carmi R., Ramesh A., Elbedour K., Srikumari Srisailapathy C.R., Keats B.J., Sheffield V.C., Smith R.J. Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. Gene. 246:2000;265-274.
-
(2000)
Gene
, vol.246
, pp. 265-274
-
-
Scott, D.A.1
Drury, S.2
Sundstrom, R.A.3
Bishop, J.4
Swiderski, R.E.5
Carmi, R.6
Ramesh, A.7
Elbedour, K.8
Srikumari Srisailapathy, C.R.9
Keats, B.J.10
Sheffield, V.C.11
Smith, R.J.12
-
52
-
-
10744220950
-
Cellular and subcellular localization of the ARPKD protein; Fibrocystin is expressed on primary cilia
-
Ward C.J., Yuan D., Masyuk T.V., Wang X., Punyashthiti R., Whelan S., Bacallao R., Torra R., LaRusso N.F., Torres V.E., Harris P.C. Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum. Mol. Genet. 12:2003;2703-2710.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2703-2710
-
-
Ward, C.J.1
Yuan, D.2
Masyuk, T.V.3
Wang, X.4
Punyashthiti, R.5
Whelan, S.6
Bacallao, R.7
Torra, R.8
Larusso, N.F.9
Torres, V.E.10
Harris, P.C.11
-
53
-
-
0035498717
-
Bending the MDCK cell primary cilium increases intracellular calcium
-
Praetorius H.A., Spring K.R. Bending the MDCK cell primary cilium increases intracellular calcium. J. Membr. Biol. 184:2001;71-79.
-
(2001)
J. Membr. Biol.
, vol.184
, pp. 71-79
-
-
Praetorius, H.A.1
Spring, K.R.2
-
54
-
-
0037317302
-
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
-
Nauli S.M., Alenghat F.J., Luo Y., Williams E., Vassilev P., Li X., Elia A.E., Lu W., Brown E.M., Quinn S.J., Ingber D.E., Zhou J. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat. Genet. 33:2003;129-137.
-
(2003)
Nat. Genet.
, vol.33
, pp. 129-137
-
-
Nauli, S.M.1
Alenghat, F.J.2
Luo, Y.3
Williams, E.4
Vassilev, P.5
Li, X.6
Elia, A.E.7
Lu, W.8
Brown, E.M.9
Quinn, S.J.10
Ingber, D.E.11
Zhou, J.12
-
55
-
-
0037428084
-
Tube morphogenesis: Making and shaping biological tubes
-
Lubarsky B., Krasnow M.A. Tube morphogenesis: making and shaping biological tubes. Cell. 112:2003;19-28.
-
(2003)
Cell
, vol.112
, pp. 19-28
-
-
Lubarsky, B.1
Krasnow, M.A.2
-
56
-
-
0034735526
-
Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene Tg 737, are required for assembly of cilia and flagella
-
Pazour G.J., Dickert B.L., Vucica Y., Seeley E.S., Rosenbaum J.L., Witman G.B., Cole D.G. Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene Tg 737, are required for assembly of cilia and flagella. J. Cell Biol. 151:2000;709-718.
-
(2000)
J. Cell Biol.
, vol.151
, pp. 709-718
-
-
Pazour, G.J.1
Dickert, B.L.2
Vucica, Y.3
Seeley, E.S.4
Rosenbaum, J.L.5
Witman, G.B.6
Cole, D.G.7
-
57
-
-
0034042763
-
The Oak Ridge polycystic kidney (orpk) disease gene is required for left-right axis determination
-
Murcia N.S., Richards W.G., Yoder B.K., Mucenski M.L., Dunlap J.R., Woychik R.P. The Oak Ridge polycystic kidney (orpk) disease gene is required for left-right axis determination. Development. 127:2000;2347-2355.
-
(2000)
Development
, vol.127
, pp. 2347-2355
-
-
Murcia, N.S.1
Richards, W.G.2
Yoder, B.K.3
Mucenski, M.L.4
Dunlap, J.R.5
Woychik, R.P.6
-
58
-
-
0035159015
-
Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia
-
Taulman P.D., Haycraft C.J., Balkovetz D.F., Yoder B.K. Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia. Mol. Biol. Cell. 12:2001;589-599.
-
(2001)
Mol. Biol. Cell
, vol.12
, pp. 589-599
-
-
Taulman, P.D.1
Haycraft, C.J.2
Balkovetz, D.F.3
Yoder, B.K.4
-
59
-
-
0037959910
-
The left-right determinant inversin is a component of node monocilia and other 9 + 0 cilia
-
Watanabe D., Saijoh Y., Nonaka S., Sasaki G., Ikawa Y., Yokoyama T., Hamada H. The left-right determinant inversin is a component of node monocilia and other 9. + 0 cilia Development. 130:2003;1725-1734.
-
(2003)
Development
, vol.130
, pp. 1725-1734
-
-
Watanabe, D.1
Saijoh, Y.2
Nonaka, S.3
Sasaki, G.4
Ikawa, Y.5
Yokoyama, T.6
Hamada, H.7
-
60
-
-
0037884961
-
Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease
-
Lin F., Hiesberger T., Cordes K., Sinclair A.M., Goldstein L.S., Somlo S., Igarashi P. Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease. Proc. Natl. Acad. Sci. USA. 100:2003;5286-5291.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 5286-5291
-
-
Lin, F.1
Hiesberger, T.2
Cordes, K.3
Sinclair, A.M.4
Goldstein, L.S.5
Somlo, S.6
Igarashi, P.7
-
61
-
-
0036785149
-
The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia
-
Yoder B.K., Hou X., Guay-Woodford L.M. The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J. Am. Soc. Nephrol. 13:2002;2508-2516.
-
(2002)
J. Am. Soc. Nephrol.
, vol.13
, pp. 2508-2516
-
-
Yoder, B.K.1
Hou, X.2
Guay-Woodford, L.M.3
-
62
-
-
0037018850
-
The ion channel polycystin-2 is required for left-right axis determination in mice
-
Pennekamp P., Karcher C., Fischer A., Schweickert A., Skryabin B., Horst J., Blum M., Dworniczak B. The ion channel polycystin-2 is required for left-right axis determination in mice. Curr. Biol. 12:2002;938-943.
-
(2002)
Curr. Biol.
, vol.12
, pp. 938-943
-
-
Pennekamp, P.1
Karcher, C.2
Fischer, A.3
Schweickert, A.4
Skryabin, B.5
Horst, J.6
Blum, M.7
Dworniczak, B.8
-
63
-
-
0037019017
-
Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease
-
Pazour G.J., San Agustin J.T., Follit J.A., Rosenbaum J.L., Witman G.B. Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease. Curr. Biol. 12:2002;R378-R380.
-
(2002)
Curr. Biol.
, vol.12
-
-
Pazour, G.J.1
San Agustin, J.T.2
Follit, J.A.3
Rosenbaum, J.L.4
Witman, G.B.5
|