-
1
-
-
34247252063
-
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model
-
Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Le J, Kolodner RD, et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007;56:1273–85.
-
(2007)
Arthritis Rheum
, vol.56
, pp. 1273-1285
-
-
Aksentijevich, I.1
Putnam, C.D.2
Remmers, E.F.3
Mueller, J.L.4
Le, J.5
Kolodner, R.D.6
-
2
-
-
0023894493
-
A Chronic, Infantile, Neurological, Cutaneous and Articular (CINCA) syndrome: a specific entity analysed in 30 patients
-
Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, et al. A Chronic, Infantile, Neurological, Cutaneous and Articular (CINCA) syndrome: a specific entity analysed in 30 patients. Scand J Rheumatol Suppl 1987;66:57–68.
-
(1987)
Scand J Rheumatol Suppl
, vol.66
, pp. 57-68
-
-
Prieur, A.M.1
Griscelli, C.2
Lampert, F.3
Truckenbrodt, H.4
Guggenheim, M.A.5
Lovell, D.J.6
-
3
-
-
0036899758
-
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with Neonatal-Onset Multisystem Inflammatory Disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases
-
Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with Neonatal-Onset Multisystem Inflammatory Disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 2002;46:3340–8.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 3340-3348
-
-
Aksentijevich, I.1
Nowak, M.2
Mallah, M.3
Chae, J.J.4
Watford, W.T.5
Hofmann, S.R.6
-
4
-
-
0036302235
-
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
-
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002;71:198–203.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.M.2
Quartier, P.3
Berquin, P.4
Certain, S.5
Cortis, E.6
-
5
-
-
80155148684
-
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an international multicenter collaborative study
-
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an international multicenter collaborative study. Arthritis Rheum 2011;63:3625–32.
-
(2011)
Arthritis Rheum
, vol.63
, pp. 3625-3632
-
-
Tanaka, N.1
Izawa, K.2
Saito, M.K.3
Sakuma, M.4
Oshima, K.5
Ohara, O.6
-
6
-
-
41349094800
-
Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients
-
Saito M, Nishikomori R, Kambe N, Fujisawa A, Tanizaki H, Takeichi K, et al. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood 2008;111:2132–41.
-
(2008)
Blood
, vol.111
, pp. 2132-2141
-
-
Saito, M.1
Nishikomori, R.2
Kambe, N.3
Fujisawa, A.4
Tanizaki, H.5
Takeichi, K.6
-
7
-
-
84922008927
-
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
-
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, et al. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 2014;46:1135–9.
-
(2014)
Nat Genet
, vol.46
, pp. 1135-1139
-
-
Romberg, N.1
Al Moussawi, K.2
Nelson-Williams, C.3
Stiegler, A.L.4
Loring, E.5
Choi, M.6
-
8
-
-
84911922142
-
An inherited mutation in NLRC4 causes autoinflammation in human and mice
-
Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K. An inherited mutation in NLRC4 causes autoinflammation in human and mice. J Exp Med 2014;211:2385–96.
-
(2014)
J Exp Med
, vol.211
, pp. 2385-2396
-
-
Kitamura, A.1
Sasaki, Y.2
Abe, T.3
Kano, H.4
Yasutomo, K.5
-
9
-
-
84927126118
-
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
-
Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, et al. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet 2014;46:1140–6.
-
(2014)
Nat Genet
, vol.46
, pp. 1140-1146
-
-
Canna, S.W.1
de Jesus, A.A.2
Gouni, S.3
Brooks, S.R.4
Marrero, B.5
Liu, Y.6
-
11
-
-
84884416457
-
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
-
Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013;14:681–91.
-
(2013)
Nat Rev Genet
, vol.14
, pp. 681-691
-
-
Boycott, K.M.1
Vanstone, M.R.2
Bulman, D.E.3
MacKenzie, A.E.4
-
12
-
-
84901504850
-
Identification of genes for childhood heritable diseases
-
Boycott KM, Dyment DA, Sawyer SL, Vanstone MR, Beaulieu CL. Identification of genes for childhood heritable diseases. Annu Rev Med 2014;65:19–31.
-
(2014)
Annu Rev Med
, vol.65
, pp. 19-31
-
-
Boycott, K.M.1
Dyment, D.A.2
Sawyer, S.L.3
Vanstone, M.R.4
Beaulieu, C.L.5
-
13
-
-
84904565419
-
Recent advances in the study of somatic mosaicism and diseases other than cancer
-
Erickson RP. Recent advances in the study of somatic mosaicism and diseases other than cancer. Curr Opin Genet Dev 2014;26:73–8.
-
(2014)
Curr Opin Genet Dev
, vol.26
, pp. 73-78
-
-
Erickson, R.P.1
-
14
-
-
77956161900
-
Somatic gene mutation and human disease other than cancer: an update
-
Erickson RP. Somatic gene mutation and human disease other than cancer: an update. Mutat Res 2010;705:96–106.
-
(2010)
Mutat Res
, vol.705
, pp. 96-106
-
-
Erickson, R.P.1
-
15
-
-
0036789093
-
Mechanisms and consequences of somatic mosaicism in humans
-
Youssoufian H, Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 2002;3:748–58.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 748-758
-
-
Youssoufian, H.1
Pyeritz, R.E.2
-
16
-
-
84860389181
-
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
-
Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011;365:611–9.
-
(2011)
N Engl J Med
, vol.365
, pp. 611-619
-
-
Lindhurst, M.J.1
Sapp, J.C.2
Teer, J.K.3
Johnston, J.J.4
Finn, E.M.5
Peters, K.6
-
17
-
-
84864400015
-
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
-
Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012;44:934–40.
-
(2012)
Nat Genet
, vol.44
, pp. 934-940
-
-
Riviere, J.B.1
Mirzaa, G.M.2
O'Roak, B.J.3
Beddaoui, M.4
Alcantara, D.5
Conway, R.L.6
-
18
-
-
36248966518
-
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
-
Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007;131:861–72.
-
(2007)
Cell
, vol.131
, pp. 861-872
-
-
Takahashi, K.1
Tanabe, K.2
Ohnuki, M.3
Narita, M.4
Ichisaka, T.5
Tomoda, K.6
-
19
-
-
36749043230
-
Induced pluripotent stem cell lines derived from human somatic cells
-
Yu J, Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, Tian S, et al. Induced pluripotent stem cell lines derived from human somatic cells. Science 2007;318:1917–20.
-
(2007)
Science
, vol.318
, pp. 1917-1920
-
-
Yu, J.1
Vodyanik, M.A.2
Smuga-Otto, K.3
Antosiewicz-Bourget, J.4
Frane, J.L.5
Tian, S.6
-
20
-
-
50549089957
-
Disease-specific induced pluripotent stem cells
-
Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, et al. Disease-specific induced pluripotent stem cells. Cell 2008;134:877–86.
-
(2008)
Cell
, vol.134
, pp. 877-886
-
-
Park, I.H.1
Arora, N.2
Huo, H.3
Maherali, N.4
Ahfeldt, T.5
Shimamura, A.6
-
21
-
-
41949098160
-
Direct reprogramming of terminally differentiated mature B lymphocytes to pluripotency
-
Hanna J, Markoulaki S, Schorderet P, Carey BW, Beard C, Wernig M, et al. Direct reprogramming of terminally differentiated mature B lymphocytes to pluripotency. Cell 2008;133:250–64.
-
(2008)
Cell
, vol.133
, pp. 250-264
-
-
Hanna, J.1
Markoulaki, S.2
Schorderet, P.3
Carey, B.W.4
Beard, C.5
Wernig, M.6
-
22
-
-
79952258224
-
Somatic coding mutations in human induced pluripotent stem cells
-
Gore A, Li Z, Fung HL, Young JE, Agarwal S, Antosiewicz-Bourget J, et al. Somatic coding mutations in human induced pluripotent stem cells. Nature 2011;471:63–7.
-
(2011)
Nature
, vol.471
, pp. 63-67
-
-
Gore, A.1
Li, Z.2
Fung, H.L.3
Young, J.E.4
Agarwal, S.5
Antosiewicz-Bourget, J.6
-
23
-
-
84871410004
-
Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
-
Abyzov A, Mariani J, Palejev D, Zhang Y, Haney MS, Tomasini L, et al. Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature 2012;492:438–42.
-
(2012)
Nature
, vol.492
, pp. 438-442
-
-
Abyzov, A.1
Mariani, J.2
Palejev, D.3
Zhang, Y.4
Haney, M.S.5
Tomasini, L.6
-
24
-
-
42949143215
-
Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome
-
Kashiwagi Y, Kawashima H, Nishimata S, Nagao R, Watanabe K, Takekuma K, et al. Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome. Clin Rheumatol 2008;27:277–9.
-
(2008)
Clin Rheumatol
, vol.27
, pp. 277-279
-
-
Kashiwagi, Y.1
Kawashima, H.2
Nishimata, S.3
Nagao, R.4
Watanabe, K.5
Takekuma, K.6
-
25
-
-
34248205020
-
A case report of neonatal onset multisystemic inflammatory disease in Japan treated with continuous hemodiafiltration and steroid pulse therapy
-
Kawashima H, Sato A, Nishimata S, Yamada N, Kashiwagi Y, Watanabe K, et al. A case report of neonatal onset multisystemic inflammatory disease in Japan treated with continuous hemodiafiltration and steroid pulse therapy. Ther Apher Dial 2007;11:232–4.
-
(2007)
Ther Apher Dial
, vol.11
, pp. 232-234
-
-
Kawashima, H.1
Sato, A.2
Nishimata, S.3
Yamada, N.4
Kashiwagi, Y.5
Watanabe, K.6
-
26
-
-
84859707571
-
Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing
-
Izawa K, Hijikata A, Tanaka N, Kawai T, Saito MK, Goldbach-Mansky R, et al. Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. DNA Res 2012;19:143–52.
-
(2012)
DNA Res
, vol.19
, pp. 143-152
-
-
Izawa, K.1
Hijikata, A.2
Tanaka, N.3
Kawai, T.4
Saito, M.K.5
Goldbach-Mansky, R.6
-
27
-
-
84865177017
-
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery
-
Tanaka T, Takahashi K, Yamane M, Tomida S, Nakamura S, Oshima K, et al. Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. Blood 2012;120:1299–308.
-
(2012)
Blood
, vol.120
, pp. 1299-1308
-
-
Tanaka, T.1
Takahashi, K.2
Yamane, M.3
Tomida, S.4
Nakamura, S.5
Oshima, K.6
-
28
-
-
79960822732
-
A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors
-
Niwa A, Heike T, Umeda K, Oshima K, Kato I, Sakai H, et al. A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors. PLoS One 2011;6:e22261.
-
(2011)
PLoS One
, vol.6
-
-
Niwa, A.1
Heike, T.2
Umeda, K.3
Oshima, K.4
Kato, I.5
Sakai, H.6
-
29
-
-
84875714069
-
Robust and highly-efficient differentiation of functional monocytic cells from human pluripotent stem cells under serum- and feeder cell-free conditions
-
Yanagimachi MD, Niwa A, Tanaka T, Honda-Ozaki F, Nishimoto S, Murata Y, et al. Robust and highly-efficient differentiation of functional monocytic cells from human pluripotent stem cells under serum- and feeder cell-free conditions. PLoS One 2013;8:e59243.
-
(2013)
PLoS One
, vol.8
-
-
Yanagimachi, M.D.1
Niwa, A.2
Tanaka, T.3
Honda-Ozaki, F.4
Nishimoto, S.5
Murata, Y.6
-
30
-
-
79955705563
-
Revisiting gap locations in amino acid sequence alignments and a proposal for a method to improve them by introducing solvent accessibility
-
Hijikata A, Yura K, Noguti T, Go M. Revisiting gap locations in amino acid sequence alignments and a proposal for a method to improve them by introducing solvent accessibility. Proteins 2011;79:1868–77.
-
(2011)
Proteins
, vol.79
, pp. 1868-1877
-
-
Hijikata, A.1
Yura, K.2
Noguti, T.3
Go, M.4
-
31
-
-
0033873929
-
Comparative protein structure modeling of genes and genomes
-
Marti-Renom MA, Stuart AC, Fiser A, Sanchez R, Melo F, Sali A. Comparative protein structure modeling of genes and genomes. Annu Rev Biophys Biomol Struct 2000;29:291–325.
-
(2000)
Annu Rev Biophys Biomol Struct
, vol.29
, pp. 291-325
-
-
Marti-Renom, M.A.1
Stuart, A.C.2
Fiser, A.3
Sanchez, R.4
Melo, F.5
Sali, A.6
-
32
-
-
84880280093
-
Crystal structure of NLRC4 reveals its autoinhibition mechanism
-
Hu Z, Yan C, Liu P, Huang Z, Ma R, Zhang C, et al. Crystal structure of NLRC4 reveals its autoinhibition mechanism. Science 2013;341:172–5.
-
(2013)
Science
, vol.341
, pp. 172-175
-
-
Hu, Z.1
Yan, C.2
Liu, P.3
Huang, Z.4
Ma, R.5
Zhang, C.6
-
33
-
-
84877749893
-
TAP-deficient human iPS cell-derived myeloid cell lines as unlimited cell source for dendritic cell-like antigen-presenting cells
-
Haruta M, Tomita Y, Yuno A, Matsumura K, Ikeda T, Takamatsu K, et al. TAP-deficient human iPS cell-derived myeloid cell lines as unlimited cell source for dendritic cell-like antigen-presenting cells. Gene Ther 2013;20:504–13.
-
(2013)
Gene Ther
, vol.20
, pp. 504-513
-
-
Haruta, M.1
Tomita, Y.2
Yuno, A.3
Matsumura, K.4
Ikeda, T.5
Takamatsu, K.6
-
34
-
-
3142654767
-
Differential activation of the inflammasome by caspase-1 adaptors ASC and Ipaf
-
Mariathasan S, Newton K, Monack DM, Vucic D, French DM, Lee WP, et al. Differential activation of the inflammasome by caspase-1 adaptors ASC and Ipaf. Nature 2004;430:213–8.
-
(2004)
Nature
, vol.430
, pp. 213-218
-
-
Mariathasan, S.1
Newton, K.2
Monack, D.M.3
Vucic, D.4
French, D.M.5
Lee, W.P.6
-
35
-
-
47849097202
-
Silica crystals and aluminum salts activate the NALP3 inflammasome through phagosomal destabilization
-
Hornung V, Bauernfeind F, Halle A, Samstad EO, Kono H, Rock KL, et al. Silica crystals and aluminum salts activate the NALP3 inflammasome through phagosomal destabilization. Nat Immunol 2008;9:847–56.
-
(2008)
Nat Immunol
, vol.9
, pp. 847-856
-
-
Hornung, V.1
Bauernfeind, F.2
Halle, A.3
Samstad, E.O.4
Kono, H.5
Rock, K.L.6
-
36
-
-
43249125839
-
Innate immune activation through Nalp3 inflammasome sensing of asbestos and silica
-
Dostert C, Petrilli V, van Bruggen R, Steele C, Mossman BT, Tschopp J. Innate immune activation through Nalp3 inflammasome sensing of asbestos and silica. Science 2008;320:674–7.
-
(2008)
Science
, vol.320
, pp. 674-677
-
-
Dostert, C.1
Petrilli, V.2
van Bruggen, R.3
Steele, C.4
Mossman, B.T.5
Tschopp, J.6
-
37
-
-
15644369352
-
Activation of interferon-γ inducing factor mediated by interleukin-1β converting enzyme
-
Gu Y, Kuida K, Tsutsui H, Ku G, Hsiao K, Fleming MA, et al. Activation of interferon-γ inducing factor mediated by interleukin-1β converting enzyme. Science 1997;275:206–9.
-
(1997)
Science
, vol.275
, pp. 206-209
-
-
Gu, Y.1
Kuida, K.2
Tsutsui, H.3
Ku, G.4
Hsiao, K.5
Fleming, M.A.6
-
38
-
-
77953105116
-
Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1β secretion
-
Tassi S, Carta S, Delfino L, Caorsi R, Martini A, Gattorno M, et al. Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1β secretion. Proc Natl Acad Sci U S A 2010;107:9789–94.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 9789-9794
-
-
Tassi, S.1
Carta, S.2
Delfino, L.3
Caorsi, R.4
Martini, A.5
Gattorno, M.6
-
40
-
-
84944517306
-
Unrevealed mosaicism in the next-generation sequencing era
-
Gajecka M. Unrevealed mosaicism in the next-generation sequencing era. Mol Genet Genomics 2016;291:513–30.
-
(2016)
Mol Genet Genomics
, vol.291
, pp. 513-530
-
-
Gajecka, M.1
|