-
1
-
-
0015506324
-
Association of autoimmune active chronic hepatitis with HL-A1,8
-
I.R. Mackay, and P.J. Morris Association of autoimmune active chronic hepatitis with HL-A1,8 Lancet 2 1972 793 795
-
(1972)
Lancet
, vol.2
, pp. 793-795
-
-
Mackay, I.R.1
Morris, P.J.2
-
2
-
-
0018602193
-
Primary biliary cirrhosis associated with HLA-DRw3
-
G. Ercilla, A. Pares, F. Arriaga, M. Bruguera, R. Castillo, J. Rodes, and et al. Primary biliary cirrhosis associated with HLA-DRw3 Tissue Antigens 14 1979 449 452
-
(1979)
Tissue Antigens
, vol.14
, pp. 449-452
-
-
Ercilla, G.1
Pares, A.2
Arriaga, F.3
Bruguera, M.4
Castillo, R.5
Rodes, J.6
-
3
-
-
0020043880
-
HLA antigens and immunoregulatory T cells in ulcerative colitis associated with hepatobiliary disease
-
E. Schrumpf, O. Fausa, O. Forre, J.H. Dobloug, S. Ritland, and E. Thorsby HLA antigens and immunoregulatory T cells in ulcerative colitis associated with hepatobiliary disease Scand J Gastroenterol 17 1982 187 191
-
(1982)
Scand J Gastroenterol
, vol.17
, pp. 187-191
-
-
Schrumpf, E.1
Fausa, O.2
Forre, O.3
Dobloug, J.H.4
Ritland, S.5
Thorsby, E.6
-
4
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
B. Kerem, J.M. Rommens, J.A. Buchanan, D. Markiewicz, T.K. Cox, A. Chakravarti, and et al. Identification of the cystic fibrosis gene: genetic analysis Science 245 1989 1073 1080
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
-
5
-
-
0029015847
-
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase
-
O. Koiwai, M. Nishizawa, K. Hasada, S. Aono, Y. Adachi, N. Mamiya, and et al. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase Hum Mol Genet 4 1995 1183 1186
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1183-1186
-
-
Koiwai, O.1
Nishizawa, M.2
Hasada, K.3
Aono, S.4
Adachi, Y.5
Mamiya, N.6
-
6
-
-
0026668559
-
Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type i
-
P.J. Bosma, J.R. Chowdhury, T.J. Huang, P. Lahiri, R.P. Elferink, H.H. Van Es, and et al. Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I FASEB J 6 1992 2859 2863
-
(1992)
FASEB J
, vol.6
, pp. 2859-2863
-
-
Bosma, P.J.1
Chowdhury, J.R.2
Huang, T.J.3
Lahiri, P.4
Elferink, R.P.5
Van Es, H.H.6
-
7
-
-
0027524805
-
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2
-
N. Moghrabi, D.J. Clarke, M. Boxer, and B. Burchell Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2 Genomics 18 1993 171 173
-
(1993)
Genomics
, vol.18
, pp. 171-173
-
-
Moghrabi, N.1
Clarke, D.J.2
Boxer, M.3
Burchell, B.4
-
8
-
-
0027427695
-
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
-
K. Petrukhin, S.G. Fischer, M. Pirastu, R.E. Tanzi, I. Chernov, M. Devoto, and et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene Nat Genet 5 1993 338 343
-
(1993)
Nat Genet
, vol.5
, pp. 338-343
-
-
Petrukhin, K.1
Fischer, S.G.2
Pirastu, M.3
Tanzi, R.E.4
Chernov, I.5
Devoto, M.6
-
9
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
P.C. Bull, G.R. Thomas, J.M. Rommens, J.R. Forbes, and D.W. Cox The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene Nat Genet 5 1993 327 337
-
(1993)
Nat Genet
, vol.5
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
Forbes, J.R.4
Cox, D.W.5
-
10
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
J.N. Feder, A. Gnirke, W. Thomas, Z. Tsuchihashi, D.A. Ruddy, A. Basava, and et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Nat Genet 13 1996 399 408
-
(1996)
Nat Genet
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
-
11
-
-
0030994468
-
A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome
-
C.C. Paulusma, M. Kool, P.J. Bosma, G.L. Scheffer, F. Ter Borg, R.J. Scheper, and et al. A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome Hepatology 25 1997 1539 1542
-
(1997)
Hepatology
, vol.25
, pp. 1539-1542
-
-
Paulusma, C.C.1
Kool, M.2
Bosma, P.J.3
Scheffer, G.L.4
Ter Borg, F.5
Scheper, R.J.6
-
12
-
-
33745232796
-
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
-
R. McDaniell, D.M. Warthen, P.A. Sanchez-Lara, A. Pai, I.D. Krantz, D.A. Piccoli, and et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway Am J Hum Genet 79 2006 169 173
-
(2006)
Am J Hum Genet
, vol.79
, pp. 169-173
-
-
McDaniell, R.1
Warthen, D.M.2
Sanchez-Lara, P.A.3
Pai, A.4
Krantz, I.D.5
Piccoli, D.A.6
-
13
-
-
84855991075
-
NOTCH2 mutations in Alagille syndrome
-
B.M. Kamath, R.C. Bauer, K.M. Loomes, G. Chao, J. Gerfen, A. Hutchinson, and et al. NOTCH2 mutations in Alagille syndrome J Med Genet 49 2012 138 144
-
(2012)
J Med Genet
, vol.49
, pp. 138-144
-
-
Kamath, B.M.1
Bauer, R.C.2
Loomes, K.M.3
Chao, G.4
Gerfen, J.5
Hutchinson, A.6
-
14
-
-
0031907132
-
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
-
L.N. Bull, M.J. van Eijk, L. Pawlikowska, J.A. DeYoung, J.A. Juijn, M. Liao, and et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis Nat Genet 18 1998 219 224
-
(1998)
Nat Genet
, vol.18
, pp. 219-224
-
-
Bull, L.N.1
Van Eijk, M.J.2
Pawlikowska, L.3
DeYoung, J.A.4
Juijn, J.A.5
Liao, M.6
-
15
-
-
17344366172
-
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
-
S.S. Strautnieks, L.N. Bull, A.S. Knisely, S.A. Kocoshis, N. Dahl, H. Arnell, and et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis Nat Genet 20 1998 233 238
-
(1998)
Nat Genet
, vol.20
, pp. 233-238
-
-
Strautnieks, S.S.1
Bull, L.N.2
Knisely, A.S.3
Kocoshis, S.A.4
Dahl, N.5
Arnell, H.6
-
16
-
-
0040284751
-
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
-
J.M. De Vree, E. Jacquemin, E. Sturm, D. Cresteil, P.J. Bosma, J. Aten, and et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis Proc Natl Acad Sci U S A 95 1998 282 287
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 282-287
-
-
De Vree, J.M.1
Jacquemin, E.2
Sturm, E.3
Cresteil, D.4
Bosma, P.J.5
Aten, J.6
-
17
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
-
G. Montosi, A. Donovan, A. Totaro, C. Garuti, E. Pignatti, S. Cassanelli, and et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene J Clin Invest 108 2001 619 623
-
(2001)
J Clin Invest
, vol.108
, pp. 619-623
-
-
Montosi, G.1
Donovan, A.2
Totaro, A.3
Garuti, C.4
Pignatti, E.5
Cassanelli, S.6
-
18
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
O.T. Njajou, N. Vaessen, M. Joosse, B. Berghuis, J.W. van Dongen, M.H. Breuning, and et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis Nat Genet 28 2001 213 214
-
(2001)
Nat Genet
, vol.28
, pp. 213-214
-
-
Njajou, O.T.1
Vaessen, N.2
Joosse, M.3
Berghuis, B.4
Van Dongen, J.W.5
Breuning, M.H.6
-
19
-
-
0036242163
-
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
-
D. Girelli, C. Bozzini, A. Roetto, F. Alberti, F. Daraio, R. Colombari, and et al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene Gastroenterology 122 2002 1295 1302
-
(2002)
Gastroenterology
, vol.122
, pp. 1295-1302
-
-
Girelli, D.1
Bozzini, C.2
Roetto, A.3
Alberti, F.4
Daraio, F.5
Colombari, R.6
-
20
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
A. Roetto, G. Papanikolaou, M. Politou, F. Alberti, D. Girelli, J. Christakis, and et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis Nat Genet 33 2003 21 22
-
(2003)
Nat Genet
, vol.33
, pp. 21-22
-
-
Roetto, A.1
Papanikolaou, G.2
Politou, M.3
Alberti, F.4
Girelli, D.5
Christakis, J.6
-
21
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
G. Papanikolaou, M.E. Samuels, E.H. Ludwig, M.L. MacDonald, P.L. Franchini, M.P. Dube, and et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis Nat Genet 36 2004 77 82
-
(2004)
Nat Genet
, vol.36
, pp. 77-82
-
-
Papanikolaou, G.1
Samuels, M.E.2
Ludwig, E.H.3
MacDonald, M.L.4
Franchini, P.L.5
Dube, M.P.6
-
22
-
-
34547546458
-
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
-
S. Buch, C. Schafmayer, H. Völzke, C. Becker, A. Franke, H. von Eller-Eberstein, and et al. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease Nat Genet 39 2007 995 999
-
(2007)
Nat Genet
, vol.39
, pp. 995-999
-
-
Buch, S.1
Schafmayer, C.2
Völzke, H.3
Becker, C.4
Franke, A.5
Von Eller-Eberstein, H.6
-
23
-
-
56749096610
-
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease
-
S. Romeo, J. Kozlitina, C. Xing, A. Pertsemlidis, D. Cox, L.A. Pennacchio, and et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease Nat Genet 40 2008 1461 1465
-
(2008)
Nat Genet
, vol.40
, pp. 1461-1465
-
-
Romeo, S.1
Kozlitina, J.2
Xing, C.3
Pertsemlidis, A.4
Cox, D.5
Pennacchio, L.A.6
-
24
-
-
53049090077
-
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes
-
X. Yuan, D. Waterworth, J.R. Perry, N. Lim, K. Song, J.C. Chambers, and et al. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes Am J Hum Genet 83 2008 520 528
-
(2008)
Am J Hum Genet
, vol.83
, pp. 520-528
-
-
Yuan, X.1
Waterworth, D.2
Perry, J.R.3
Lim, N.4
Song, K.5
Chambers, J.C.6
-
25
-
-
67149095289
-
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants
-
G.M. Hirschfield, X. Liu, C. Xu, Y. Lu, G. Xie, Y. Lu, and et al. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants N Engl J Med 360 2009 2544 2555
-
(2009)
N Engl J Med
, vol.360
, pp. 2544-2555
-
-
Hirschfield, G.M.1
Liu, X.2
Xu, C.3
Lu, Y.4
Xie, G.5
Lu, Y.6
-
26
-
-
67649859295
-
HLA-B∗5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin
-
A.K. Daly, P.T. Donaldson, P. Bhatnagar, Y. Shen, I. Pe'er, A. Floratos, and et al. HLA-B∗5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin Nat Genet 41 2009 816 819
-
(2009)
Nat Genet
, vol.41
, pp. 816-819
-
-
Daly, A.K.1
Donaldson, P.T.2
Bhatnagar, P.3
Shen, Y.4
Pe'Er, I.5
Floratos, A.6
-
27
-
-
67349160018
-
A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians
-
Y. Kamatani, S. Wattanapokayakit, H. Ochi, T. Kawaguchi, A. Takahashi, N. Hosono, and et al. A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians Nat Genet 41 2009 591 595
-
(2009)
Nat Genet
, vol.41
, pp. 591-595
-
-
Kamatani, Y.1
Wattanapokayakit, S.2
Ochi, H.3
Kawaguchi, T.4
Takahashi, A.5
Hosono, N.6
-
28
-
-
70349292099
-
Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance
-
D. Ge, J. Fellay, A.J. Thompson, J.S. Simon, K.V. Shianna, T.J. Urban, and et al. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance Nature 461 2009 399 401
-
(2009)
Nature
, vol.461
, pp. 399-401
-
-
Ge, D.1
Fellay, J.2
Thompson, A.J.3
Simon, J.S.4
Shianna, K.V.5
Urban, T.J.6
-
29
-
-
70349966196
-
Genetic variation in IL28B and spontaneous clearance of hepatitis C virus
-
D.L. Thomas, C.L. Thio, M.P. Martin, Y. Qi, D. Ge, C. O'Huigin, and et al. Genetic variation in IL28B and spontaneous clearance of hepatitis C virus Nature 461 2009 798 801
-
(2009)
Nature
, vol.461
, pp. 798-801
-
-
Thomas, D.L.1
Thio, C.L.2
Martin, M.P.3
Qi, Y.4
Ge, D.5
O'Huigin, C.6
-
30
-
-
70149106634
-
Genetic modifiers of liver disease in cystic fibrosis
-
J.R. Bartlett, K.J. Friedman, S.C. Ling, R.G. Pace, S.C. Bell, B. Bourke, and et al. Genetic modifiers of liver disease in cystic fibrosis JAMA 302 2009 1076 1083
-
(2009)
JAMA
, vol.302
, pp. 1076-1083
-
-
Bartlett, J.R.1
Friedman, K.J.2
Ling, S.C.3
Pace, R.G.4
Bell, S.C.5
Bourke, B.6
-
31
-
-
73349111259
-
Variant in PNPLA3 is associated with alcoholic liver disease
-
C. Tian, R.P. Stokowski, D. Kershenobich, D.G. Ballinger, and D.A. Hinds Variant in PNPLA3 is associated with alcoholic liver disease Nat Genet 42 2010 21 23
-
(2010)
Nat Genet
, vol.42
, pp. 21-23
-
-
Tian, C.1
Stokowski, R.P.2
Kershenobich, D.3
Ballinger, D.G.4
Hinds, D.A.5
-
32
-
-
77249164222
-
Genome-wide association analysis in primary sclerosing cholangitis
-
T.H. Karlsen, A. Franke, E. Melum, A. Kaser, J.R. Hov, T. Balschun, and et al. Genome-wide association analysis in primary sclerosing cholangitis Gastroenterology 138 2010 1102 1111
-
(2010)
Gastroenterology
, vol.138
, pp. 1102-1111
-
-
Karlsen, T.H.1
Franke, A.2
Melum, E.3
Kaser, A.4
Hov, J.R.5
Balschun, T.6
-
33
-
-
77949773445
-
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C
-
J. Fellay, A.J. Thompson, D. Ge, C.E. Gumbs, T.J. Urban, K.V. Shianna, and et al. ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C Nature 464 2010 405 408
-
(2010)
Nature
, vol.464
, pp. 405-408
-
-
Fellay, J.1
Thompson, A.J.2
Ge, D.3
Gumbs, C.E.4
Urban, T.J.5
Shianna, K.V.6
-
34
-
-
77956628160
-
Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers
-
H. Zhang, Y. Zhai, Z. Hu, C. Wu, J. Qian, W. Jia, and et al. Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers Nat Genet 42 2010 755 758
-
(2010)
Nat Genet
, vol.42
, pp. 755-758
-
-
Zhang, H.1
Zhai, Y.2
Hu, Z.3
Wu, C.4
Qian, J.5
Jia, W.6
-
35
-
-
79957523368
-
Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class i and II alleles
-
M.I. Lucena, M. Molokhia, Y. Shen, T.J. Urban, G.P. Aithal, R.J. Andrade, and et al. Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles Gastroenterology 141 2011 338 347
-
(2011)
Gastroenterology
, vol.141
, pp. 338-347
-
-
Lucena, M.I.1
Molokhia, M.2
Shen, Y.3
Urban, T.J.4
Aithal, G.P.5
Andrade, R.J.6
-
36
-
-
84856514936
-
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
-
E. Van de Steeg, V. Stranecky, H. Hartmannova, L. Noskova, M. Hrebicek, E. Wagenaar, and et al. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver J Clin Invest 122 2012 519 528
-
(2012)
J Clin Invest
, vol.122
, pp. 519-528
-
-
Van De Steeg, E.1
Stranecky, V.2
Hartmannova, H.3
Noskova, L.4
Hrebicek, M.5
Wagenaar, E.6
-
37
-
-
84868157974
-
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection
-
E. Patin, Z. Kutalik, J. Guergnon, S. Bibert, B. Nalpas, E. Jouanguy, and et al. Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection Gastroenterology 143 2012 1244 1252
-
(2012)
Gastroenterology
, vol.143
, pp. 1244-1252
-
-
Patin, E.1
Kutalik, Z.2
Guergnon, J.3
Bibert, S.4
Nalpas, B.5
Jouanguy, E.6
-
38
-
-
84904632006
-
Genome-wide association study identifies variants associated with autoimmune hepatitis type 1
-
Y.S. De Boer, N.M. van Gerven, A. Zwiers, B.J. Verwer, B. van Hoek, K.J. van Erpecum, and et al. Genome-wide association study identifies variants associated with autoimmune hepatitis type 1 Gastroenterology 147 2014 e445
-
(2014)
Gastroenterology
, vol.147
, pp. e445
-
-
De Boer, Y.S.1
Van Gerven, N.M.2
Zwiers, A.3
Verwer, B.J.4
Van Hoek, B.5
Van Erpecum, K.J.6
-
39
-
-
84898057518
-
Mutations in TJP2 cause progressive cholestatic liver disease
-
M. Sambrotta, S. Strautnieks, E. Papouli, P. Rushton, B.E. Clark, D.A. Parry, and et al. Mutations in TJP2 cause progressive cholestatic liver disease Nat Genet 46 2014 326 328
-
(2014)
Nat Genet
, vol.46
, pp. 326-328
-
-
Sambrotta, M.1
Strautnieks, S.2
Papouli, E.3
Rushton, P.4
Clark, B.E.5
Parry, D.A.6
-
40
-
-
84897840405
-
A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations
-
L. Pan, L. Zhang, W. Zhang, X. Wu, Y. Li, B. Yan, and et al. A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations Hum Mol Genet 23 2014 2210 2219
-
(2014)
Hum Mol Genet
, vol.23
, pp. 2210-2219
-
-
Pan, L.1
Zhang, L.2
Zhang, W.3
Wu, X.4
Li, Y.5
Yan, B.6
-
42
-
-
84928562024
-
Molecular profiling of liver tumors: Classification and clinical translation for decision making
-
R. Pinyol, J.C. Nault, I.M. Quetglas, J. Zucman-Rossi, and J.M. Llovet Molecular profiling of liver tumors: classification and clinical translation for decision making Semin Liver Dis 34 2014 363 375
-
(2014)
Semin Liver Dis
, vol.34
, pp. 363-375
-
-
Pinyol, R.1
Nault, J.C.2
Quetglas, I.M.3
Zucman-Rossi, J.4
Llovet, J.M.5
-
43
-
-
80052691380
-
Wilson disease: Pathogenesis and clinical considerations in diagnosis and treatment
-
R. Rosencrantz, and M. Schilsky Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment Semin Liver Dis 31 2011 245 259
-
(2011)
Semin Liver Dis
, vol.31
, pp. 245-259
-
-
Rosencrantz, R.1
Schilsky, M.2
-
44
-
-
2042546096
-
Balancing acts: Molecular control of mammalian iron metabolism
-
M.W. Hentze, M.U. Muckenthaler, and N.C. Andrews Balancing acts: molecular control of mammalian iron metabolism Cell 117 2004 285 297
-
(2004)
Cell
, vol.117
, pp. 285-297
-
-
Hentze, M.W.1
Muckenthaler, M.U.2
Andrews, N.C.3
-
45
-
-
79953836125
-
Iron overload in HFE C282Y heterozygotes at first genetic testing: A strategy for identifying rare HFE variants
-
P. Aguilar-Martinez, B. Grandchamp, S. Cunat, E. Cadet, F. Blanc, M. Nourrit, and et al. Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants Haematologica 96 2011 507 514
-
(2011)
Haematologica
, vol.96
, pp. 507-514
-
-
Aguilar-Martinez, P.1
Grandchamp, B.2
Cunat, S.3
Cadet, E.4
Blanc, F.5
Nourrit, M.6
-
46
-
-
84878341903
-
The genetics of complex cholestatic disorders
-
G.M. Hirschfield, R.W. Chapman, T.H. Karlsen, F. Lammert, K.N. Lazaridis, and A.L. Mason The genetics of complex cholestatic disorders Gastroenterology 144 2013 1357 1374
-
(2013)
Gastroenterology
, vol.144
, pp. 1357-1374
-
-
Hirschfield, G.M.1
Chapman, R.W.2
Karlsen, T.H.3
Lammert, F.4
Lazaridis, K.N.5
Mason, A.L.6
-
47
-
-
17744390348
-
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
-
K.E. Berge, H. Tian, G.A. Graf, L. Yu, N.V. Grishin, J. Schultz, and et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters Science 290 2000 1771 1775
-
(2000)
Science
, vol.290
, pp. 1771-1775
-
-
Berge, K.E.1
Tian, H.2
Graf, G.A.3
Yu, L.4
Grishin, N.V.5
Schultz, J.6
-
48
-
-
85028171423
-
Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins
-
A. Buil, A.A. Brown, T. Lappalainen, A. Vinuela, M.N. Davies, H.F. Zheng, and et al. Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins Nat Genet 47 2015 88 91
-
(2015)
Nat Genet
, vol.47
, pp. 88-91
-
-
Buil, A.1
Brown, A.A.2
Lappalainen, T.3
Vinuela, A.4
Davies, M.N.5
Zheng, H.F.6
-
50
-
-
84863981813
-
Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci
-
T. Folseraas, E. Melum, P. Rausch, B.D. Juran, E. Ellinghaus, A. Shiryaev, and et al. Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci J Hepatol 57 2012 366 375
-
(2012)
J Hepatol
, vol.57
, pp. 366-375
-
-
Folseraas, T.1
Melum, E.2
Rausch, P.3
Juran, B.D.4
Ellinghaus, E.5
Shiryaev, A.6
-
51
-
-
84866924593
-
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis
-
J.Z. Liu, M.A. Almarri, D.J. Gaffney, G.F. Mells, L. Jostins, H.J. Cordell, and et al. Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis Nat Genet 44 2012 1137 1141
-
(2012)
Nat Genet
, vol.44
, pp. 1137-1141
-
-
Liu, J.Z.1
Almarri, M.A.2
Gaffney, D.J.3
Mells, G.F.4
Jostins, L.5
Cordell, H.J.6
-
52
-
-
84878725018
-
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis
-
J.Z. Liu, J.R. Hov, T. Folseraas, E. Ellinghaus, S.M. Rushbrook, N.T. Doncheva, and et al. Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis Nat Genet 45 2013 670 675
-
(2013)
Nat Genet
, vol.45
, pp. 670-675
-
-
Liu, J.Z.1
Hov, J.R.2
Folseraas, T.3
Ellinghaus, E.4
Rushbrook, S.M.5
Doncheva, N.T.6
-
53
-
-
84904602832
-
Genetic risks link autoimmune hepatitis to other autoimmune liver disease
-
G.M. Hirschfield, and T.H. Karlsen Genetic risks link autoimmune hepatitis to other autoimmune liver disease Gastroenterology 147 2014 270 273
-
(2014)
Gastroenterology
, vol.147
, pp. 270-273
-
-
Hirschfield, G.M.1
Karlsen, T.H.2
-
54
-
-
78049315402
-
Realising the benefits of genetics for health
-
C.F. Wright, P. Brice, A. Stewart, and H. Burton Realising the benefits of genetics for health Lancet 376 2010 1370 1371
-
(2010)
Lancet
, vol.376
, pp. 1370-1371
-
-
Wright, C.F.1
Brice, P.2
Stewart, A.3
Burton, H.4
-
55
-
-
84938530111
-
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
-
S. Vilarinho, M. Choi, D. Jain, A. Malhotra, S. Kulkarni, D. Pashankar, and et al. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology J Hepatol 61 2014 1056 1063
-
(2014)
J Hepatol
, vol.61
, pp. 1056-1063
-
-
Vilarinho, S.1
Choi, M.2
Jain, D.3
Malhotra, A.4
Kulkarni, S.5
Pashankar, D.6
-
56
-
-
0014442684
-
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
-
R.J. Clayton, F.L. Iber, B.H. Ruebner, and V.A. McKusick Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred Am J Dis Child 117 1969 112 124
-
(1969)
Am J Dis Child
, vol.117
, pp. 112-124
-
-
Clayton, R.J.1
Iber, F.L.2
Ruebner, B.H.3
McKusick, V.A.4
-
57
-
-
0028231206
-
Molecular cloning, chromosomal localization, and functional characterization of a human liver Na+/bile acid cotransporter
-
B. Hagenbuch, and P.J. Meier Molecular cloning, chromosomal localization, and functional characterization of a human liver Na+/bile acid cotransporter J Clin Invest 93 1994 1326 1331
-
(1994)
J Clin Invest
, vol.93
, pp. 1326-1331
-
-
Hagenbuch, B.1
Meier, P.J.2
-
58
-
-
0032540277
-
The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver
-
T. Gerloff, B. Stieger, B. Hagenbuch, J. Madon, L. Landmann, J. Roth, and et al. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver J Biol Chem 273 1998 10046 10050
-
(1998)
J Biol Chem
, vol.273
, pp. 10046-10050
-
-
Gerloff, T.1
Stieger, B.2
Hagenbuch, B.3
Madon, J.4
Landmann, L.5
Roth, J.6
-
59
-
-
0027363563
-
Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease
-
J.J. Smit, A.H. Schinkel, R.P. Oude Elferink, A.K. Groen, E. Wagenaar, L. van Deemter, and et al. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease Cell 75 1993 451 462
-
(1993)
Cell
, vol.75
, pp. 451-462
-
-
Smit, J.J.1
Schinkel, A.H.2
Oude Elferink, R.P.3
Groen, A.K.4
Wagenaar, E.5
Van Deemter, L.6
-
60
-
-
84900400875
-
Massive gene amplification drives paediatric hepatocellular carcinoma caused by bile salt export pump deficiency
-
F. Iannelli, A. Collino, S. Sinha, E. Radaelli, P. Nicoli, L. D'Antiga, and et al. Massive gene amplification drives paediatric hepatocellular carcinoma caused by bile salt export pump deficiency Nat Commun 5 2014 3850
-
(2014)
Nat Commun
, vol.5
, pp. 3850
-
-
Iannelli, F.1
Collino, A.2
Sinha, S.3
Radaelli, E.4
Nicoli, P.5
D'Antiga, L.6
-
61
-
-
0035045719
-
The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood
-
E. Jacquemin, J.M. De Vree, D. Cresteil, E.M. Sokal, E. Sturm, M. Dumont, and et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood Gastroenterology 120 2001 1448 1458
-
(2001)
Gastroenterology
, vol.120
, pp. 1448-1458
-
-
Jacquemin, E.1
De Vree, J.M.2
Cresteil, D.3
Sokal, E.M.4
Sturm, E.5
Dumont, M.6
-
62
-
-
0033023251
-
Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy
-
E. Jacquemin, D. Cresteil, S. Manouvrier, O. Boute, and M. Hadchouel Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy Lancet 353 1999 210 211
-
(1999)
Lancet
, vol.353
, pp. 210-211
-
-
Jacquemin, E.1
Cresteil, D.2
Manouvrier, S.3
Boute, O.4
Hadchouel, M.5
-
63
-
-
0035053975
-
MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis
-
O. Rosmorduc, B. Hermelin, and R. Poupon MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis Gastroenterology 120 2001 1459 1467
-
(2001)
Gastroenterology
, vol.120
, pp. 1459-1467
-
-
Rosmorduc, O.1
Hermelin, B.2
Poupon, R.3
-
64
-
-
84883211808
-
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: A study of 156 consecutive patients
-
R. Poupon, O. Rosmorduc, P.Y. Boelle, Y. Chretien, C. Corpechot, O. Chazouilleres, and et al. Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients Hepatology 58 2013 1105 1110
-
(2013)
Hepatology
, vol.58
, pp. 1105-1110
-
-
Poupon, R.1
Rosmorduc, O.2
Boelle, P.Y.3
Chretien, Y.4
Corpechot, C.5
Chazouilleres, O.6
-
65
-
-
41549123313
-
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families
-
S.S. Strautnieks, J.A. Byrne, L. Pawlikowska, D. Cebecauerova, A. Rayner, L. Dutton, and et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families Gastroenterology 134 2008 1203 1214
-
(2008)
Gastroenterology
, vol.134
, pp. 1203-1214
-
-
Strautnieks, S.S.1
Byrne, J.A.2
Pawlikowska, L.3
Cebecauerova, D.4
Rayner, A.5
Dutton, L.6
-
66
-
-
3042782537
-
Characterization of mutations in ATP8B1 associated with hereditary cholestasis
-
L.W. Klomp, J.C. Vargas, S.W. van Mil, L. Pawlikowska, S.S. Strautnieks, M.J. van Eijk, and et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis Hepatology 40 2004 27 38
-
(2004)
Hepatology
, vol.40
, pp. 27-38
-
-
Klomp, L.W.1
Vargas, J.C.2
Van Mil, S.W.3
Pawlikowska, L.4
Strautnieks, S.S.5
Van Eijk, M.J.6
-
67
-
-
80054848251
-
Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity
-
A. Groen, M.R. Romero, C. Kunne, S.J. Hoosdally, P.H. Dixon, C. Wooding, and et al. Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity Gastroenterology 141 2011 e1921 e1924
-
(2011)
Gastroenterology
, vol.141
, pp. e1921-e1924
-
-
Groen, A.1
Romero, M.R.2
Kunne, C.3
Hoosdally, S.J.4
Dixon, P.H.5
Wooding, C.6
-
68
-
-
77953587817
-
Differences in presentation and progression between severe FIC1 and BSEP deficiencies
-
L. Pawlikowska, S. Strautnieks, I. Jankowska, P. Czubkowski, K. Emerick, A. Antoniou, and et al. Differences in presentation and progression between severe FIC1 and BSEP deficiencies J Hepatol 53 2010 170 178
-
(2010)
J Hepatol
, vol.53
, pp. 170-178
-
-
Pawlikowska, L.1
Strautnieks, S.2
Jankowska, I.3
Czubkowski, P.4
Emerick, K.5
Antoniou, A.6
-
69
-
-
77951487115
-
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history
-
A. Davit-Spraul, M. Fabre, S. Branchereau, C. Baussan, E. Gonzales, B. Stieger, and et al. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history Hepatology 51 2010 1645 1655
-
(2010)
Hepatology
, vol.51
, pp. 1645-1655
-
-
Davit-Spraul, A.1
Fabre, M.2
Branchereau, S.3
Baussan, C.4
Gonzales, E.5
Stieger, B.6
-
70
-
-
33747032310
-
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
-
A.S. Knisely, S.S. Strautnieks, Y. Meier, B. Stieger, J.A. Byrne, B.C. Portmann, and et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency Hepatology 44 2006 478 486
-
(2006)
Hepatology
, vol.44
, pp. 478-486
-
-
Knisely, A.S.1
Strautnieks, S.S.2
Meier, Y.3
Stieger, B.4
Byrne, J.A.5
Portmann, B.C.6
-
71
-
-
4143073631
-
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
-
S.W. Van Mil, W.L. van der Woerd, G. van der Brugge, E. Sturm, P.L. Jansen, L.N. Bull, and et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11 Gastroenterology 127 2004 379 384
-
(2004)
Gastroenterology
, vol.127
, pp. 379-384
-
-
Van Mil, S.W.1
Van Der Woerd, W.L.2
Van Der Brugge, G.3
Sturm, E.4
Jansen, P.L.5
Bull, L.N.6
-
72
-
-
0037994064
-
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT
-
V.E. Carlton, B.Z. Harris, E.G. Puffenberger, A.K. Batta, A.S. Knisely, D.L. Robinson, and et al. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT Nat Genet 34 2003 91 96
-
(2003)
Nat Genet
, vol.34
, pp. 91-96
-
-
Carlton, V.E.1
Harris, B.Z.2
Puffenberger, E.G.3
Batta, A.K.4
Knisely, A.S.5
Robinson, D.L.6
-
73
-
-
75349107079
-
Liver disease associated with canalicular transport defects: Current and future therapies
-
J.M. Stapelbroek, K.J. van Erpecum, L.W. Klomp, and R.H. Houwen Liver disease associated with canalicular transport defects: current and future therapies J Hepatol 52 2010 258 271
-
(2010)
J Hepatol
, vol.52
, pp. 258-271
-
-
Stapelbroek, J.M.1
Van Erpecum, K.J.2
Klomp, L.W.3
Houwen, R.H.4
-
74
-
-
33645962479
-
Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis
-
H.E. Wasmuth, H. Keppeler, U. Herrmann, R. Schirin-Sokhan, M. Barker, and F. Lammert Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis Hepatology 43 2006 738 741
-
(2006)
Hepatology
, vol.43
, pp. 738-741
-
-
Wasmuth, H.E.1
Keppeler, H.2
Herrmann, U.3
Schirin-Sokhan, R.4
Barker, M.5
Lammert, F.6
-
75
-
-
78649705083
-
Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition
-
S. Buch, C. Schafmayer, H. Völzke, M. Seeger, J.F. Miquel, S.C. Sookoian, and et al. Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition Gastroenterology 139 2010 e1942
-
(2010)
Gastroenterology
, vol.139
, pp. e1942
-
-
Buch, S.1
Schafmayer, C.2
Völzke, H.3
Seeger, M.4
Miquel, J.F.5
Sookoian, S.C.6
-
76
-
-
0030914459
-
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
-
T. Oda, A.G. Elkahloun, B.L. Pike, K. Okajima, I.D. Krantz, A. Genin, and et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome Nat Genet 16 1997 235 242
-
(1997)
Nat Genet
, vol.16
, pp. 235-242
-
-
Oda, T.1
Elkahloun, A.G.2
Pike, B.L.3
Okajima, K.4
Krantz, I.D.5
Genin, A.6
-
77
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
L. Li, I.D. Krantz, Y. Deng, A. Genin, A.B. Banta, C.C. Collins, and et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 Nat Genet 16 1997 243 251
-
(1997)
Nat Genet
, vol.16
, pp. 243-251
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
Genin, A.4
Banta, A.B.5
Collins, C.C.6
-
78
-
-
84937727334
-
A genome-wide association study identifies THBS2 as a candidate modifier of liver disease severity in Alagille syndrome
-
K.M. Loomes, E. Tsai, L.A. Underkoffler, C. Grochowski, A.M. Falsey, B.M. Kamath, and et al. A genome-wide association study identifies THBS2 as a candidate modifier of liver disease severity in Alagille syndrome Hepatology 60 2014 252A
-
(2014)
Hepatology
, vol.60
, pp. 252A
-
-
Loomes, K.M.1
Tsai, E.2
Underkoffler, L.A.3
Grochowski, C.4
Falsey, A.M.5
Kamath, B.M.6
-
79
-
-
84877920825
-
A 360-degree overview of paediatric NAFLD: Recent insights
-
V. Nobili, G. Svegliati-Baroni, A. Alisi, L. Miele, L. Valenti, and P. Vajro A 360-degree overview of paediatric NAFLD: recent insights J Hepatol 58 2013 1218 1229
-
(2013)
J Hepatol
, vol.58
, pp. 1218-1229
-
-
Nobili, V.1
Svegliati-Baroni, G.2
Alisi, A.3
Miele, L.4
Valenti, L.5
Vajro, P.6
-
80
-
-
78751536418
-
Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians
-
F. Stickel, S. Buch, K. Lau, H. Meyer zu Schwabedissen, T. Berg, M. Ridinger, and et al. Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians Hepatology 53 2011 86 95
-
(2011)
Hepatology
, vol.53
, pp. 86-95
-
-
Stickel, F.1
Buch, S.2
Lau, K.3
Meyer zu Schwabedissen, H.4
Berg, T.5
Ridinger, M.6
-
81
-
-
84926406803
-
HCC and liver disease risks in homozygous PNPLA3 p. I148M carriers approach monogenic inheritance
-
Krawczyk M, Stokes CS, Romeo S, Lammert F. HCC and liver disease risks in homozygous PNPLA3 p. I148M carriers approach monogenic inheritance. J Hepatol 2015;62:980-981.
-
(2015)
J Hepatol
, vol.62
, pp. 980-981
-
-
Krawczyk, M.1
Stokes, C.S.2
Romeo, S.3
Lammert, F.4
-
82
-
-
84903708160
-
TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease
-
Y.L. Liu, H.L. Reeves, A.D. Burt, D. Tiniakos, S. McPherson, J.B. Leathart, and et al. TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease Nat Commun 5 2014 4309
-
(2014)
Nat Commun
, vol.5
, pp. 4309
-
-
Liu, Y.L.1
Reeves, H.L.2
Burt, A.D.3
Tiniakos, D.4
McPherson, S.5
Leathart, J.B.6
-
83
-
-
84887567748
-
PNPLA3-associated steatohepatitis: Toward a gene-based classification of fatty liver disease
-
M. Krawczyk, P. Portincasa, and F. Lammert PNPLA3-associated steatohepatitis: toward a gene-based classification of fatty liver disease Semin Liver Dis 33 2013 369 379
-
(2013)
Semin Liver Dis
, vol.33
, pp. 369-379
-
-
Krawczyk, M.1
Portincasa, P.2
Lammert, F.3
-
84
-
-
79959442292
-
Genetic variation in PNPLA3 (adiponutrin) confers sensitivity to weight loss-induced decrease in liver fat in humans
-
K. Sevastianova, A. Kotronen, A. Gastaldelli, J. Perttilä, A. Hakkarainen, J. Lundbom, and et al. Genetic variation in PNPLA3 (adiponutrin) confers sensitivity to weight loss-induced decrease in liver fat in humans Am J Clin Nutr 94 2011 104 111
-
(2011)
Am J Clin Nutr
, vol.94
, pp. 104-111
-
-
Sevastianova, K.1
Kotronen, A.2
Gastaldelli, A.3
Perttilä, J.4
Hakkarainen, A.5
Lundbom, J.6
-
85
-
-
84919685089
-
PNPLA3 gene polymorphism and response to lifestyle modification in patients with nonalcoholic fatty liver disease
-
J. Shen, G.L. Wong, H.L. Chan, R.S. Chan, H.Y. Chan, W.C. Chu, and et al. PNPLA3 gene polymorphism and response to lifestyle modification in patients with nonalcoholic fatty liver disease J Gastroenterol Hepatol 30 2015 139 146
-
(2015)
J Gastroenterol Hepatol
, vol.30
, pp. 139-146
-
-
Shen, J.1
Wong, G.L.2
Chan, H.L.3
Chan, R.S.4
Chan, H.Y.5
Chu, W.C.6
-
87
-
-
84880269392
-
How cytokine networks fuel inflammation: Toward a cytokine-based disease taxonomy
-
G. Schett, D. Elewaut, I.B. McInnes, J.M. Dayer, and M.F. Neurath How cytokine networks fuel inflammation: toward a cytokine-based disease taxonomy Nat Med 19 2013 822 824
-
(2013)
Nat Med
, vol.19
, pp. 822-824
-
-
Schett, G.1
Elewaut, D.2
McInnes, I.B.3
Dayer, J.M.4
Neurath, M.F.5
-
88
-
-
84887621906
-
Paneth cells as a site of origin for intestinal inflammation
-
T.E. Adolph, M.F. Tomczak, L. Niederreiter, H.J. Ko, J. Bock, E. Martinez-Naves, and et al. Paneth cells as a site of origin for intestinal inflammation Nature 503 2013 272 276
-
(2013)
Nature
, vol.503
, pp. 272-276
-
-
Adolph, T.E.1
Tomczak, M.F.2
Niederreiter, L.3
Ko, H.J.4
Bock, J.5
Martinez-Naves, E.6
-
89
-
-
84888876575
-
Interferon lambda 4 signals via the IFNlambda receptor to regulate antiviral activity against HCV and coronaviruses
-
O.J. Hamming, E. Terczynska-Dyla, G. Vieyres, R. Dijkman, S.E. Jorgensen, H. Akhtar, and et al. Interferon lambda 4 signals via the IFNlambda receptor to regulate antiviral activity against HCV and coronaviruses EMBO J 32 2013 3055 3065
-
(2013)
EMBO J
, vol.32
, pp. 3055-3065
-
-
Hamming, O.J.1
Terczynska-Dyla, E.2
Vieyres, G.3
Dijkman, R.4
Jorgensen, S.E.5
Akhtar, H.6
-
90
-
-
84873083416
-
A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus
-
L. Prokunina-Olsson, B. Muchmore, W. Tang, R.M. Pfeiffer, H. Park, H. Dickensheets, and et al. A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus Nat Genet 45 2013 164 171
-
(2013)
Nat Genet
, vol.45
, pp. 164-171
-
-
Prokunina-Olsson, L.1
Muchmore, B.2
Tang, W.3
Pfeiffer, R.M.4
Park, H.5
Dickensheets, H.6
-
91
-
-
84880688112
-
IL28B expression depends on a novel TT/-G polymorphism which improves HCV clearance prediction
-
S. Bibert, T. Roger, T. Calandra, M. Bochud, A. Cerny, N. Semmo, and et al. IL28B expression depends on a novel TT/-G polymorphism which improves HCV clearance prediction J Exp Med 210 2013 1109 1116
-
(2013)
J Exp Med
, vol.210
, pp. 1109-1116
-
-
Bibert, S.1
Roger, T.2
Calandra, T.3
Bochud, M.4
Cerny, A.5
Semmo, N.6
-
92
-
-
84889633412
-
Association of the IFNL4-DeltaG allele with impaired spontaneous clearance of hepatitis C virus
-
P.V. Aka, M.H. Kuniholm, R.M. Pfeiffer, A.S. Wang, W. Tang, S. Chen, and et al. Association of the IFNL4-DeltaG allele with impaired spontaneous clearance of hepatitis C virus J Infect Dis 209 2014 350 354
-
(2014)
J Infect Dis
, vol.209
, pp. 350-354
-
-
Aka, P.V.1
Kuniholm, M.H.2
Pfeiffer, R.M.3
Wang, A.S.4
Tang, W.5
Chen, S.6
-
93
-
-
84883428456
-
A systematic analysis of host factors reveals a Med23-interferon-lambda regulatory axis against herpes simplex virus type 1 replication
-
S.J. Griffiths, M. Koegl, C. Boutell, H.L. Zenner, C.M. Crump, F. Pica, and et al. A systematic analysis of host factors reveals a Med23-interferon-lambda regulatory axis against herpes simplex virus type 1 replication PLoS Pathog 9 2013 e1003514
-
(2013)
PLoS Pathog
, vol.9
, pp. e1003514
-
-
Griffiths, S.J.1
Koegl, M.2
Boutell, C.3
Zenner, H.L.4
Crump, C.M.5
Pica, F.6
-
94
-
-
84867571865
-
Genomics and HCV infection: Progression of fibrosis and treatment response
-
E. Estrabaud, M. Vidaud, P. Marcellin, and T. Asselah Genomics and HCV infection: progression of fibrosis and treatment response J Hepatol 57 2012 1110 1125
-
(2012)
J Hepatol
, vol.57
, pp. 1110-1125
-
-
Estrabaud, E.1
Vidaud, M.2
Marcellin, P.3
Asselah, T.4
-
95
-
-
77955852095
-
Common variation of IL28 affects gamma-GTP levels and inflammation of the liver in chronically infected hepatitis C virus patients
-
H. Abe, H. Ochi, T. Maekawa, C.N. Hayes, M. Tsuge, D. Miki, and et al. Common variation of IL28 affects gamma-GTP levels and inflammation of the liver in chronically infected hepatitis C virus patients J Hepatol 53 2010 439 443
-
(2010)
J Hepatol
, vol.53
, pp. 439-443
-
-
Abe, H.1
Ochi, H.2
Maekawa, T.3
Hayes, C.N.4
Tsuge, M.5
Miki, D.6
-
96
-
-
78649903976
-
Genome-wide association studies and genetic risk assessment of liver diseases
-
M. Krawczyk, R. Müllenbach, S.N. Weber, V. Zimmer, and F. Lammert Genome-wide association studies and genetic risk assessment of liver diseases Nat Rev Gastroenterol Hepatol 7 2010 669 681
-
(2010)
Nat Rev Gastroenterol Hepatol
, vol.7
, pp. 669-681
-
-
Krawczyk, M.1
Müllenbach, R.2
Weber, S.N.3
Zimmer, V.4
Lammert, F.5
-
97
-
-
84898058547
-
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk
-
O.L. Holmen, H. Zhang, Y. Fan, D.H. Hovelson, E.M. Schmidt, W. Zhou, and et al. Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk Nat Genet 46 2014 345 351
-
(2014)
Nat Genet
, vol.46
, pp. 345-351
-
-
Holmen, O.L.1
Zhang, H.2
Fan, Y.3
Hovelson, D.H.4
Schmidt, E.M.5
Zhou, W.6
-
98
-
-
84925357379
-
TM6SF2: Catch-22 in the fight against nonalcoholic fatty liver disease and cardiovascular disease?
-
[epub]
-
Kahali B, Liu YL, Daly AK, Day CP, Anstee QM, Speliotes EK. TM6SF2: catch-22 in the fight against nonalcoholic fatty liver disease and cardiovascular disease? Gastroenterology 2015 [epub].
-
(2015)
Gastroenterology
-
-
Kahali, B.1
Liu, Y.L.2
Daly, A.K.3
Day, C.P.4
Anstee, Q.M.5
Speliotes, E.K.6
-
100
-
-
84903897064
-
ACG Clinical Guideline: The diagnosis and management of idiosyncratic drug-induced liver injury
-
quiz 967
-
N.P. Chalasani, P.H. Hayashi, H.L. Bonkovsky, V.J. Navarro, W.M. Lee, and R.J. Fontana ACG Clinical Guideline: the diagnosis and management of idiosyncratic drug-induced liver injury Am J Gastroenterol 109 2014 950 966 quiz 967
-
(2014)
Am J Gastroenterol
, vol.109
, pp. 950-966
-
-
Chalasani, N.P.1
Hayashi, P.H.2
Bonkovsky, H.L.3
Navarro, V.J.4
Lee, W.M.5
Fontana, R.J.6
-
101
-
-
80052929533
-
Drug induced liver injury and its relationship to autoimmune hepatitis
-
C. Weiler-Normann, and C. Schramm Drug induced liver injury and its relationship to autoimmune hepatitis J Hepatol 55 2011 747 749
-
(2011)
J Hepatol
, vol.55
, pp. 747-749
-
-
Weiler-Normann, C.1
Schramm, C.2
-
102
-
-
84901768135
-
Genetic basis of drug-induced liver injury: Present and future
-
T.J. Urban, A.K. Daly, and G.P. Aithal Genetic basis of drug-induced liver injury: present and future Semin Liver Dis 34 2014 123 133
-
(2014)
Semin Liver Dis
, vol.34
, pp. 123-133
-
-
Urban, T.J.1
Daly, A.K.2
Aithal, G.P.3
-
103
-
-
84867578409
-
Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs
-
T.J. Urban, Y. Shen, A. Stolz, N. Chalasani, R.J. Fontana, J. Rochon, and et al. Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs Pharmacogenet Genomics 22 2012 784 795
-
(2012)
Pharmacogenet Genomics
, vol.22
, pp. 784-795
-
-
Urban, T.J.1
Shen, Y.2
Stolz, A.3
Chalasani, N.4
Fontana, R.J.5
Rochon, J.6
-
104
-
-
84927176500
-
Cystic fibrosis genetics: From molecular understanding to clinical application
-
G.R. Cutting Cystic fibrosis genetics: from molecular understanding to clinical application Nat Rev Genet 16 2015 45 56
-
(2015)
Nat Rev Genet
, vol.16
, pp. 45-56
-
-
Cutting, G.R.1
-
105
-
-
68249108329
-
Prediction and interaction in complex disease genetics: Experience in type 1 diabetes
-
D.G. Clayton Prediction and interaction in complex disease genetics: experience in type 1 diabetes PLoS Genet 5 2009 e1000540
-
(2009)
PLoS Genet
, vol.5
, pp. e1000540
-
-
Clayton, D.G.1
-
106
-
-
77951487491
-
The utility of genome-wide association studies in hepatology
-
T.H. Karlsen, E. Melum, and A. Franke The utility of genome-wide association studies in hepatology Hepatology 51 2010 1833 1842
-
(2010)
Hepatology
, vol.51
, pp. 1833-1842
-
-
Karlsen, T.H.1
Melum, E.2
Franke, A.3
-
108
-
-
84904465224
-
Genome sequencing identifies major causes of severe intellectual disability
-
C. Gilissen, J.Y. Hehir-Kwa, D.T. Thung, M. van de Vorst, B.W. van Bon, M.H. Willemsen, and et al. Genome sequencing identifies major causes of severe intellectual disability Nature 511 2014 344 347
-
(2014)
Nature
, vol.511
, pp. 344-347
-
-
Gilissen, C.1
Hehir-Kwa, J.Y.2
Thung, D.T.3
Van De Vorst, M.4
Van Bon, B.W.5
Willemsen, M.H.6
-
109
-
-
84886253518
-
Novel insights into autoimmune liver diseases provided by genome-wide association studies
-
G.F. Mells, A. Kaser, and T.H. Karlsen Novel insights into autoimmune liver diseases provided by genome-wide association studies J Autoimmun 46 2013 41 54
-
(2013)
J Autoimmun
, vol.46
, pp. 41-54
-
-
Mells, G.F.1
Kaser, A.2
Karlsen, T.H.3
|