-
1
-
-
0023894493
-
A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome: A specific entity analysed in 30 patients
-
Prieur AM, Griscelli C, Lampert F, 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
-
2
-
-
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
-
DOI 10.1002/art.10688
-
Aksentijevich I, Nowak M, Mallah M, 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(12):3340-3348. (Pubitemid 35453546)
-
(2002)
Arthritis and Rheumatism
, vol.46
, Issue.12
, pp. 3340-3348
-
-
Aksentijevich, I.1
Nowak, M.2
Mallah, M.3
Chae, J.J.4
Watford, W.T.5
Hofmann, S.R.6
Stein, L.7
Russo, R.8
Goldsmith, D.9
Dent, P.10
Rosenberg, H.F.11
Austin, F.12
Remmers, E.F.13
Balow Jr., J.E.14
Rosenzweig, S.15
Komarow, H.16
Shoham, N.G.17
Wood, G.18
Jones, J.19
Mangra, N.20
Carrero, H.21
Adams, B.S.22
Moore, T.L.23
Schikler, K.24
Hoffman, H.25
Lovell, D.J.26
Lipnick, R.27
Barron, K.28
O'Shea, J.J.29
Kastner, D.L.30
Goldbach-Mansky, R.31
more..
-
3
-
-
0036302235
-
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
-
DOI 10.1086/341357
-
Feldmann J, Prieur AM, Quartier P, 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(1):198-203. (Pubitemid 34734724)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.1
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.-M.2
Quartier, P.3
Berquin, P.4
Certain, S.5
Cortis, E.6
Teillac-Harnel, D.7
Fischer, A.8
De Saint, B.G.9
-
4
-
-
70249138036
-
Cutting edge: NF-kappaB activating pattern recognition and cytokine receptors license NLRP3 inflammasome activation by regulating NLRP3 expression
-
Bauernfeind FG, Horvath G, Stutz A, et al. Cutting edge: NF-kappaB activating pattern recognition and cytokine receptors license NLRP3 inflammasome activation by regulating NLRP3 expression. J Immunol. 2009;183(2):787-791.
-
(2009)
J Immunol
, vol.183
, Issue.2
, pp. 787-791
-
-
Bauernfeind, F.G.1
Horvath, G.2
Stutz, A.3
-
5
-
-
32944470765
-
Cryopyrin activates the inflammasome in response to toxins and ATP
-
DOI 10.1038/nature04515, PII N04515
-
Mariathasan S, Weiss DS, Newton K, et al. Cryopyrin activates the inflammasome in response to toxins and ATP. Nature. 2006;440(7081):228-232. (Pubitemid 43372102)
-
(2006)
Nature
, vol.440
, Issue.7081
, pp. 228-232
-
-
Mariathasan, S.1
Weiss, D.S.2
Newton, K.3
McBride, J.4
O'Rourke, K.5
Roose-Girma, M.6
Lee, W.P.7
Weinrauch, Y.8
Monack, D.M.9
Dixit, V.M.10
-
6
-
-
34848875155
-
Pattern of interleukin-1β secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations
-
DOI 10.1002/art.22842
-
Gattorno M, Tassi S, Carta S, et al. Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum. 2007;56(9):3138-3148. (Pubitemid 47502762)
-
(2007)
Arthritis and Rheumatism
, vol.56
, Issue.9
, pp. 3138-3148
-
-
Gattorno, M.1
Tassi, S.2
Carta, S.3
Delfino, L.4
Ferlito, F.5
Pelagatti, M.A.6
D'Osualdo, A.7
Buoncompagni, A.8
Alpigiani, M.G.9
Alessio, M.10
Martini, A.11
Rubartelli, A.12
-
7
-
-
33746876396
-
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
-
DOI 10.1056/NEJMoa055137
-
Goldbach-Mansky R, Dailey NJ, Canna SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355(6):581-592. (Pubitemid 44200651)
-
(2006)
New England Journal of Medicine
, vol.355
, Issue.6
, pp. 581-592
-
-
Goldbach-Mansky, R.1
Dailey, N.J.2
Canna, S.W.3
Gelabert, A.4
Jones, J.5
Rubin, B.I.6
Kim, H.J.7
Brewer, C.8
Zalewski, C.9
Wiggs, E.10
Hill, S.11
Turner, M.L.12
Karp, B.I.13
Aksentijevich, I.14
Pucino, F.15
Penzak, S.R.16
Haverkamp, M.H.17
Stein, L.18
Adams, B.S.19
Moore, T.L.20
Fuhlbrigge, R.C.21
Shaham, B.22
Jarvis, J.N.23
O'Neil, K.24
Vehe, R.K.25
Beitz, L.O.26
Gardner, G.27
Hannan, W.P.28
Warren, R.W.29
Horn, W.30
Cole, J.L.31
Paul, S.M.32
Hawkins, P.N.33
Tuyet, H.P.34
Snyder, C.35
Wesley, R.A.36
Hoffmann, S.C.37
Holland, S.M.38
Butman, J.A.39
Kastner, D.L.40
more..
-
8
-
-
74849115591
-
Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome
-
Neven B, Marvillet I, Terrada C, et al. Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2010;62(1):258-267.
-
(2010)
Arthritis Rheum
, vol.62
, Issue.1
, pp. 258-267
-
-
Neven, B.1
Marvillet, I.2
Terrada, C.3
-
9
-
-
41349094800
-
Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients
-
DOI 10.1182/blood-2007-06-094201
-
Saito M, Nishikomori R, Kambe N, et al. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood. 2008;111(4):2132-2141. (Pubitemid 351451525)
-
(2008)
Blood
, vol.111
, Issue.4
, pp. 2132-2141
-
-
Saito, M.1
Nishikomori, R.2
Kambe, N.3
Fujisawa, A.4
Tanizaki, H.5
Takeichi, K.6
Imagawa, T.7
Iehara, T.8
Takada, H.9
Matsubayashi, T.10
Tanaka, H.11
Kawashima, H.12
Kawakami, K.13
Kagami, S.14
Okafuji, I.15
Yoshioka, T.16
Adachi, S.17
Heike, T.18
Miyachi, Y.19
Nakahata, T.20
more..
-
10
-
-
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, 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(11):3625-3632.
-
(2011)
Arthritis Rheum
, vol.63
, Issue.11
, pp. 3625-3632
-
-
Tanaka, N.1
Izawa, K.2
Saito, M.K.3
-
11
-
-
67650736238
-
Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease
-
Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol. 2009;27:621-668.
-
(2009)
Annu Rev Immunol
, vol.27
, pp. 621-668
-
-
Masters, S.L.1
Simon, A.2
Aksentijevich, I.3
Kastner, D.L.4
-
12
-
-
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(10):748-758.
-
(2002)
Nat Rev Genet
, vol.3
, Issue.10
, pp. 748-758
-
-
Youssoufian, H.1
Pyeritz, R.E.2
-
13
-
-
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(2):96-106.
-
(2010)
Mutat Res
, vol.705
, Issue.2
, pp. 96-106
-
-
Erickson, R.P.1
-
14
-
-
0035871629
-
Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome
-
Ariga T, Kondoh T, Yamaguchi K, et al. Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome. J Immunol. 2001; 166(8):5245-5249. (Pubitemid 32280741)
-
(2001)
Journal of Immunology
, vol.166
, Issue.8
, pp. 5245-5249
-
-
Ariga, T.1
Kondoh, T.2
Yamaguchi, K.3
Yamada, M.4
Sasaki, S.5
Nelson, D.L.6
Ikeda, H.7
Kobayashi, K.8
Moriuchi, H.9
Sakiyama, Y.10
-
15
-
-
2942627117
-
X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival
-
DOI 10.1182/blood-2003-10-3655
-
Nishikomori R, Akutagawa H, Maruyama K, et al. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood. 2004; 103(12):4565-4572. (Pubitemid 38745984)
-
(2004)
Blood
, vol.103
, Issue.12
, pp. 4565-4572
-
-
Nishikomori, R.1
Akutagawa, H.2
Maruyama, K.3
Nakata-Hizume, M.4
Ohmori, K.5
Mizuno, K.6
Yachie, A.7
Yasumi, T.8
Kusunoki, T.9
Heike, T.10
Nakahata, T.11
-
16
-
-
27144520521
-
Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome
-
DOI 10.1182/blood-2004-12-4724
-
Lutskiy MI, Beardsley DS, Rosen FS, Remold-O'Donnell E. Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome. Blood. 2005;106(8):2815-2817. (Pubitemid 41510758)
-
(2005)
Blood
, vol.106
, Issue.8
, pp. 2815-2817
-
-
Lutskiy, M.I.1
Beardsley, D.S.2
Rosen, F.S.3
Remold-O'Donnell, E.4
-
17
-
-
36248966518
-
Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
-
DOI 10.1016/j.cell.2007.11.019, PII S0092867407014717
-
Takahashi K, Tanabe K, Ohnuki M, et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell. 2007;131(5): 861-872. (Pubitemid 350138099)
-
(2007)
Cell
, vol.131
, Issue.5
, pp. 861-872
-
-
Takahashi, K.1
Tanabe, K.2
Ohnuki, M.3
Narita, M.4
Ichisaka, T.5
Tomoda, K.6
Yamanaka, S.7
-
18
-
-
82455199147
-
Induced pluripotent stem cells: Opportunities for disease modelling and drug discovery
-
Grskovic M, Javaherian A, Strulovici B, Daley GQ. Induced pluripotent stem cells: opportunities for disease modelling and drug discovery. Nat Rev Drug Discov. 2011;10(12):915-929.
-
(2011)
Nat Rev Drug Discov
, vol.10
, Issue.12
, pp. 915-929
-
-
Grskovic, M.1
Javaherian, A.2
Strulovici, B.3
Daley, G.Q.4
-
19
-
-
41949098160
-
Direct Reprogramming of Terminally Differentiated Mature B Lymphocytes to Pluripotency
-
DOI 10.1016/j.cell.2008.03.028, PII S0092867408004479
-
Hanna J, Markoulaki S, Schorderet P, et al. Direct reprogramming of terminally differentiated mature B lymphocytes to pluripotency. Cell. 2008;133(2):250-264. (Pubitemid 351508307)
-
(2008)
Cell
, vol.133
, Issue.2
, pp. 250-264
-
-
Hanna, J.1
Markoulaki, S.2
Schorderet, P.3
Carey, B.W.4
Beard, C.5
Wernig, M.6
Creyghton, M.P.7
Steine, E.J.8
Cassady, J.P.9
Foreman, R.10
Lengner, C.J.11
Dausman, J.A.12
Jaenisch, R.13
-
20
-
-
27744440753
-
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome
-
DOI 10.1002/art.21404
-
Saito M, Fujisawa A, Nishikomori R, et al. Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2005;52(11):3579-3585. (Pubitemid 41612227)
-
(2005)
Arthritis and Rheumatism
, vol.52
, Issue.11
, pp. 3579-3585
-
-
Saito, M.1
Fujisawa, A.2
Nishikomori, R.3
Kambe, N.4
Nakata-Hizume, M.5
Yoshimoto, M.6
Ohmori, K.7
Okafuji, I.8
Yoshioka, T.9
Kusunoki, T.10
Miyachi, Y.11
Heike, T.12
Nakahata, T.13
-
21
-
-
0028048369
-
Generation of lymphohematopoietic cells from embryonic stem cells in culture
-
Nakano T, Kodama H, Honjo T. Generation of lymphohematopoietic cells from embryonic stem cells in culture. Science. 1994;265(5175):1098-1101. (Pubitemid 24293078)
-
(1994)
Science
, vol.265
, Issue.5175
, pp. 1098-1101
-
-
Nakano, T.1
Kodama, H.2
Honjo, T.3
-
22
-
-
33947596456
-
Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells
-
DOI 10.1182/blood-2006-07-033597
-
Fujisawa A, Kambe N, Saito M, et al. Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells. Blood. 2007;109(7):2903-2911. (Pubitemid 46482087)
-
(2007)
Blood
, vol.109
, Issue.7
, pp. 2903-2911
-
-
Fujisawa, A.1
Kambe, N.2
Saito, M.3
Nishikomori, R.4
Tanizaki, H.5
Kanazawa, N.6
Adachi, S.7
Heike, T.8
Sagara, J.9
Suda, T.10
Nakahata, T.11
Miyachi, Y.12
-
23
-
-
34548386663
-
Microbial Pathogen-Induced Necrotic Cell Death Mediated by the Inflammasome Components CIAS1/Cryopyrin/NLRP3 and ASC
-
DOI 10.1016/j.chom.2007.07.009, PII S1931312807001928
-
Willingham SB, Bergstralh DT, O'Connor W, et al. Microbial pathogen-induced necrotic cell death mediated by the inflammasome components CIAS1/cryopyrin/NLRP3 and ASC. Cell Host Microbe. 2007;2(3):147-159. (Pubitemid 47355205)
-
(2007)
Cell Host and Microbe
, vol.2
, Issue.3
, pp. 147-159
-
-
Willingham, S.B.1
Bergstralh, D.T.2
O'Connor, W.3
Morrison, A.C.4
Taxman, D.J.5
Duncan, J.A.6
Barnoy, S.7
Venkatesan, M.M.8
Flavell, R.A.9
Deshmukh, M.10
Hoffman, H.M.11
Ting, J.P.-Y.12
-
24
-
-
73949118676
-
Necrotic cells trigger a sterile inflammatory response through the Nlrp3 inflammasome
-
Iyer SS, Pulskens WP, Sadler JJ, et al. Necrotic cells trigger a sterile inflammatory response through the Nlrp3 inflammasome. Proc Natl Acad Sci U S A. 2009;106(48):20388-20393.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, Issue.48
, pp. 20388-20393
-
-
Iyer, S.S.1
Pulskens, W.P.2
Sadler, J.J.3
-
25
-
-
0142184953
-
Oxidized ATP (oATP) attenuates proinflammatory signaling via P2 receptor-independent mechanisms
-
DOI 10.1038/sj.bjp.0705470
-
Beigi RD, Kertesy SB, Aquilina G, Dubyak GR. Oxidized ATP (oATP) attenuates proinflammatory signaling via P2 receptor-independent mechanisms. Br J Pharmacol. 2003;140(3):507-519. (Pubitemid 37330495)
-
(2003)
British Journal of Pharmacology
, vol.140
, Issue.3
, pp. 507-519
-
-
Beigi, R.D.1
Kertesy, S.B.2
Aquilina, G.3
Dubyak, G.R.4
-
26
-
-
32944468985
-
Gout-associated uric acid crystals activate the NALP3 inflammasome
-
DOI 10.1038/nature04516, PII N04516
-
Martinon F, Petrilli V, Mayor A, Tardivel A, Tschopp J. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature. 2006; 440(7081):237-241. (Pubitemid 43372104)
-
(2006)
Nature
, vol.440
, Issue.7081
, pp. 237-241
-
-
Martinon, F.1
Petrilli, V.2
Mayor, A.3
Tardivel, A.4
Tschopp, J.5
-
27
-
-
47849085872
-
The NALP3 inflammasome is involved in the innate immune response to amyloid-beta
-
Halle A, Hornung V, Petzold GC, et al. The NALP3 inflammasome is involved in the innate immune response to amyloid-beta. Nat Immunol. 2008;9(8):857-865.
-
(2008)
Nat Immunol
, vol.9
, Issue.8
, pp. 857-865
-
-
Halle, A.1
Hornung, V.2
Petzold, G.C.3
-
28
-
-
77951800951
-
NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals
-
Duewell P, Kono H, Rayner KJ, et al. NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals. Nature. 2010; 464(7293):1357-1361.
-
(2010)
Nature
, vol.464
, Issue.7293
, pp. 1357-1361
-
-
Duewell, P.1
Kono, H.2
Rayner, K.J.3
-
29
-
-
77956958947
-
Activation of the NLRP3 inflammasome by islet amyloid polypeptide provides a mechanism for enhanced IL-1beta in type 2 diabetes
-
Masters SL, Dunne A, Subramanian SL, et al. Activation of the NLRP3 inflammasome by islet amyloid polypeptide provides a mechanism for enhanced IL-1beta in type 2 diabetes. Nat Immunol. 2010;11(10):897-904.
-
(2010)
Nat Immunol
, vol.11
, Issue.10
, pp. 897-904
-
-
Masters, S.L.1
Dunne, A.2
Subramanian, S.L.3
-
30
-
-
79751512463
-
The NLRP3 inflammasome instigates obesity-induced inflammation and insulin resistance
-
Vandanmagsar B, Youm YH, Ravussin A, et al. The NLRP3 inflammasome instigates obesity-induced inflammation and insulin resistance. Nat Med. 2011;17(2):179-188.
-
(2011)
Nat Med
, vol.17
, Issue.2
, pp. 179-188
-
-
Vandanmagsar, B.1
Youm, Y.H.2
Ravussin, A.3
-
31
-
-
77951240589
-
Antiinflammatory compounds parthenolide and Bay 11-7082 are direct inhibitors of the inflammasome
-
Juliana C, Fernandes-Alnemri T, Wu J, et al. Antiinflammatory compounds parthenolide and Bay 11-7082 are direct inhibitors of the inflammasome. J Biol Chem. 2010;285(13):9792-9802.
-
(2010)
J Biol Chem
, vol.285
, Issue.13
, pp. 9792-9802
-
-
Juliana, C.1
Fernandes-Alnemri, T.2
Wu, J.3
-
32
-
-
84856529668
-
Efficient and accurate homologous recombination in hESCs and hiPSCs using helper-dependent adenoviral vectors
-
Aizawa E, Hirabayashi Y, Iwanaga Y, et al. Efficient and accurate homologous recombination in hESCs and hiPSCs using helper-dependent adenoviral vectors. Mol Ther. 2012;20(2):424-431.
-
(2012)
Mol Ther
, vol.20
, Issue.2
, pp. 424-431
-
-
Aizawa, E.1
Hirabayashi, Y.2
Iwanaga, Y.3
-
33
-
-
79960833952
-
Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations
-
Soldner F, Laganiere J, Cheng AW, et al. Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations. Cell. 2011;146(2):318-331.
-
(2011)
Cell
, vol.146
, Issue.2
, pp. 318-331
-
-
Soldner, F.1
Laganiere, J.2
Cheng, A.W.3
-
34
-
-
79955602167
-
Isolation of MECP2-null Rett syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
-
Cheung AY, Horvath LM, Grafodatskaya D, et al. Isolation of MECP2-null Rett syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet. 2011;20(11):2103-2115.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.11
, pp. 2103-2115
-
-
Cheung, A.Y.1
Horvath, L.M.2
Grafodatskaya, D.3
-
35
-
-
80052155858
-
Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome
-
Kim KY, Hysolli E, Park IH. Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome. Proc Natl Acad Sci U S A. 2011;108(34):14169-14174.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, Issue.34
, pp. 14169-14174
-
-
Kim, K.Y.1
Hysolli, E.2
Park, I.H.3
-
36
-
-
79961133928
-
Unexpected X chromosome skewing during culture and reprogramming of human somatic cells can be alleviated by exogenous telomerase
-
Pomp O, Dreesen O, Leong DF, et al. Unexpected X chromosome skewing during culture and reprogramming of human somatic cells can be alleviated by exogenous telomerase. Cell Stem Cell. 2011;9(2):156-165.
-
(2011)
Cell Stem Cell
, vol.9
, Issue.2
, pp. 156-165
-
-
Pomp, O.1
Dreesen, O.2
Leong, D.F.3
-
37
-
-
79952258224
-
Somatic coding mutations in human induced pluripotent stem cells
-
Gore A, Li Z, Fung HL, et al. Somatic coding mutations in human induced pluripotent stem cells. Nature. 2011;471(7336):63-67.
-
(2011)
Nature
, vol.471
, Issue.7336
, pp. 63-67
-
-
Gore, A.1
Li, Z.2
Fung, H.L.3
-
38
-
-
24644515300
-
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome
-
DOI 10.1161/CIRCULATIONAHA.105.549071
-
Crotti L, Lundquist AL, Insolia R, et al. KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation. 2005;112(9):1251-1258. (Pubitemid 41266719)
-
(2005)
Circulation
, vol.112
, Issue.9
, pp. 1251-1258
-
-
Crotti, L.1
Lundquist, A.L.2
Insolia, R.3
Pedrazzini, M.4
Ferrandi, C.5
De Ferrari, G.M.6
Vicentini, A.7
Yang, P.8
Roden, D.M.9
George Jr., A.L.10
Schwartz, P.J.11
-
39
-
-
67650095306
-
Disease-corrected haematopoietic progenitors from Fanconi anemia induced pluripotent stem cells
-
Raya A, Rodriguez-Piza I, Guenechea G, et al. Disease-corrected haematopoietic progenitors from Fanconi anemia induced pluripotent stem cells. Nature. 2009;460(7251):53-59.
-
(2009)
Nature
, vol.460
, Issue.7251
, pp. 53-59
-
-
Raya, A.1
Rodriguez-Piza, I.2
Guenechea, G.3
-
40
-
-
84861912972
-
Overcoming reprogramming resistance of Fanconi anemia cells
-
Müller LU, Milsom MD, Harris CE, et al. Overcoming reprogramming resistance of Fanconi anemia cells. Blood. 2012;119(23):5449-5457.
-
(2012)
Blood
, vol.119
, Issue.23
, pp. 5449-5457
-
-
Müller, L.U.1
Milsom, M.D.2
Harris, C.E.3
|