Literature DB >> 9691911

Progressive familial intrahepatic cholestasis types 1, 2, and 3.

P L Jansen1, M M Müller.   

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Year:  1998        PMID： 9691911      PMCID： PMC1727132          DOI： 10.1136/gut.42.6.766

Source DB:  PubMed          Journal:  Gut        ISSN： 0017-5749            Impact factor:   23.059


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  11 in total

1.  Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.

Authors:  R J Sinke; V E Carlton; J A Juijn; T Delhaas; L Bull; G P van Berge Henegouwen; J van Hattum; K M Keller; M Sinaasappel; C M Bijleveld; I E Knol; H K Ploos van Amstel; P L Pearson; R Berger; N B Freimer; R H Houwen
Journal:  Hum Genet       Date:  1997-09       Impact factor: 4.132

2.  Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.

Authors:  S S Strautnieks; A F Kagalwalla; M S Tanner; A S Knisely; L Bull; N Freimer; S A Kocoshis; R M Gardiner; R J Thompson
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

3.  Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred.

Authors:  R J Clayton; F L Iber; B H Ruebner; V A McKusick
Journal:  Am J Dis Child       Date:  1969-01

4.  Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.

Authors:  L N Bull; V E Carlton; N L Stricker; S Baharloo; J A DeYoung; N B Freimer; M S Magid; E Kahn; J Markowitz; F J DiCarlo; L McLoughlin; J T Boyle; B B Dahms; P R Faught; J F Fitzgerald; D A Piccoli; C L Witzleben; N C O'Connell; K D Setchell; R M Agostini; S A Kocoshis; J Reyes; A S Knisely
Journal:  Hepatology       Date:  1997-07       Impact factor: 17.425

5.  Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.

Authors:  R H Houwen; S Baharloo; K Blankenship; P Raeymaekers; J Juyn; L A Sandkuijl; N B Freimer
Journal:  Nat Genet       Date:  1994-12       Impact factor: 38.330

6.  Regulation of mdr2 P-glycoprotein expression by bile salts.

Authors:  C M Frijters; R Ottenhoff; M J van Wijland; C M van Nieuwkerk; A K Groen; R P Oude Elferink
Journal:  Biochem J       Date:  1997-01-15       Impact factor: 3.857

7.  Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis.

Authors:  J F Deleuze; E Jacquemin; C Dubuisson; D Cresteil; M Dumont; S Erlinger; O Bernard; M Hadchouel
Journal:  Hepatology       Date:  1996-04       Impact factor: 17.425

8.  Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease.

Authors:  J J Smit; A H Schinkel; R P Oude Elferink; A K Groen; E Wagenaar; L van Deemter; C A Mol; R Ottenhoff; N M van der Lugt; M A van Roon
Journal:  Cell       Date:  1993-11-05       Impact factor: 41.582

9.  Hepatic secretion of phospholipid vesicles in the mouse critically depends on mdr2 or MDR3 P-glycoprotein expression. Visualization by electron microscopy.

Authors:  A R Crawford; A J Smith; V C Hatch; R P Oude Elferink; P Borst; J M Crawford
Journal:  J Clin Invest       Date:  1997-11-15       Impact factor: 14.808

10.  Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.

Authors:  V E Carlton; A S Knisely; N B Freimer
Journal:  Hum Mol Genet       Date:  1995-06       Impact factor: 6.150
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  9 in total

1.  A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis.

Authors:  Xiu-Qi Chen; Lin-Lin Wang; Qing-Wen Shan; Qing Tang; Ya-Nan Deng; Shu-Jun Lian; Xiang Yun
Journal:  World J Pediatr       Date:  2011-06-01       Impact factor: 2.764

Review 2.  Approach to a patient with elevated serum alkaline phosphatase.

Authors:  Asma Siddique; Kris V Kowdley
Journal:  Clin Liver Dis       Date:  2012-04-06       Impact factor: 6.126

3.  Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach.

Authors:  M L Metzelder; M Bottländer; M Melter; C Petersen; B M Ure
Journal:  Surg Endosc       Date:  2005-12       Impact factor: 4.584

4.  Paediatric cholestatic liver disorders for the adult gastroenterologist: a practical guide.

Authors:  Claire Kelly; Jeremy Shanika Nayagam; Stamatina Vogli; Marianne Samyn; Deepak Joshi
Journal:  Frontline Gastroenterol       Date:  2020-08-03

5.  Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis.

Authors:  R Wang; M Salem; I M Yousef; B Tuchweber; P Lam; S J Childs; C D Helgason; C Ackerley; M J Phillips; V Ling
Journal:  Proc Natl Acad Sci U S A       Date:  2001-02-06       Impact factor: 11.205

Review 6.  Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature.

Authors:  You-Wen Tan; Hai-Lei Ji; Zhong-Hua Lu; Guo-Hong Ge; Li Sun; Xin-Bei Zhou; Jian-Hui Sheng; Yu-Hua Gong
Journal:  World J Gastroenterol       Date:  2018-11-07       Impact factor: 5.742

7.  Novel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report.

Authors:  Tian-Fu Liu; Jing-Jing He; Liang Wang; Ling-Yi Zhang
Journal:  World J Clin Cases       Date:  2022-02-26       Impact factor: 1.337

Review 8.  Cholestasis beyond the Neonatal and Infancy Periods.

Authors:  Racha Khalaf; Claudia Phen; Sara Karjoo; Michael Wilsey
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2016-03-22

9.  Liver transplantation for decompensated liver cirrhosis caused by progressive familial intrahepatic cholestasis type 3: A case report.

Authors:  Deng Xiang; Jiannan He; Hongmei Wang; Fangfang Xiong; Hao Cheng; Junhua Ai; Renfeng Shan; Renhua Wan; Lunli Zhang; Jun Shi
Journal:  Medicine (Baltimore)       Date:  2017-12       Impact factor: 1.817
  9 in total

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