Literature DB >> 18162845

CFC1 gene involvement in biliary atresia with polysplenia syndrome.

Anne Davit-Spraul1, Christiane Baussan, Bogdan Hermeziu, Olivier Bernard, Emmanuel Jacquemin.   

Abstract

The present report describes CFC1 gene analysis in 10 patients with polysplenia syndrome. The heterozygous transition c.433G>A (Ala145Thr) located in exon 5 was identified in 5 patients, with a twice-higher frequency than in control patients. These results suggest that heterozygous CFC1 mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome.

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Year:  2008        PMID： 18162845     DOI： 10.1097/01.mpg.0000304465.60788.f4

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


  24 in total

1.  Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

Authors:  Melissa Leyva-Vega; Jennifer Gerfen; Brian D Thiel; Dorota Jurkiewicz; Elizabeth B Rand; Joanna Pawlowska; Diana Kaminska; Pierre Russo; Xiaowu Gai; Ian D Krantz; Binita M Kamath; Hakon Hakonarson; Barbara A Haber; Nancy B Spinner
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

Review 2.  Biliary atresia: will blocking inflammation tame the disease?

Authors:  Kazuhiko Bessho; Jorge A Bezerra
Journal:  Annu Rev Med       Date:  2011       Impact factor: 13.739

Review 3.  Pathogenesis of biliary atresia: defining biology to understand clinical phenotypes.

Authors:  Akihiro Asai; Alexander Miethke; Jorge A Bezerra
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2015-05-26       Impact factor: 46.802

Review 4.  Liver fibrosis in biliary atresia.

Authors:  Wen-Jun Shen; Gong Chen; Min Wang; Shan Zheng
Journal:  World J Pediatr       Date:  2018-11-21       Impact factor: 2.764

Review 5.  Cholestatic liver disease in children.

Authors:  Jorge L Santos; Monique Choquette; Jorge A Bezerra
Journal:  Curr Gastroenterol Rep       Date:  2010-02

Review 6.  Clinical practice: management of biliary atresia.

Authors:  Basem A Khalil; M Thamara P R Perera; Darius F Mirza
Journal:  Eur J Pediatr       Date:  2009-12-18       Impact factor: 3.183

Review 7.  Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome.

Authors:  Smita Mishra
Journal:  Indian J Pediatr       Date:  2015-11-26       Impact factor: 1.967

8.  +276 G/T single nucleotide polymorphism of the adiponectin gene is associated with the susceptibility to biliary atresia.

Authors:  Wanvisa Udomsinprasert; Tewin Tencomnao; Sittisak Honsawek; Wilai Anomasiri; Paisarn Vejchapipat; Voranush Chongsrisawat; Yong Poovorawan
Journal:  World J Pediatr       Date:  2012-11-15       Impact factor: 2.764

9.  Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

Authors:  Shuang Cui; Melissa Leyva-Vega; Ellen A Tsai; Steven F EauClaire; Joseph T Glessner; Hakon Hakonarson; Marcella Devoto; Barbara A Haber; Nancy B Spinner; Randolph P Matthews
Journal:  Gastroenterology       Date:  2013-01-18       Impact factor: 22.682

Review 10.  Biliary atresia.

Authors:  Giorgina Mieli-Vergani; Diego Vergani
Journal:  Semin Immunopathol       Date:  2009-06-17       Impact factor: 9.623
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