Literature DB >> 17994566

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

Doris Taha1, Amina Khider, Andrew R Cullinane, Paul Gissen.   

Abstract

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Year:  2007        PMID： 17994566     DOI： 10.1002/ajmg.a.32051

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  Metazoan cell biology of the HOPS tethering complex.

Authors:  Stephanie A Zlatic; Karine Tornieri; Steven W L'hernault; Victor Faundez
Journal:  Cell Logist       Date:  2011-05

2.  ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

Authors:  Jian-She Wang; Jing Zhao; Li-Ting Li
Journal:  World J Gastroenterol       Date:  2014-04-28       Impact factor: 5.742

3.  One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.

Authors:  Lianhu Yu; Dan Li; Ting Zhang; Yongmei Xiao; Yizhong Wang; Ting Ge
Journal:  BMC Nephrol       Date:  2022-06-27       Impact factor: 2.585

4.  Hypersensitivity of Vps33B mutant flies to non-pathogenic infections is dictated by aberrant activation of p38b MAP kinase.

Authors:  Jian Zhang; Charles Tracy; Chandrashekhar Pasare; Jinsheng Zeng; Helmut Krämer
Journal:  Traffic       Date:  2020-08-03       Impact factor: 6.215

Review 5.  Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.

Authors:  Ebru Arhan; Arzu Meltem Yusufoğlu; Tülin Revide Sayli
Journal:  Eur J Pediatr       Date:  2008-10-30       Impact factor: 3.183

6.  Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

Authors:  Amelia Holme; Jennifer A Hurcombe; Anna Straatman-Iwanowska; Carol I Inward; Paul Gissen; Richard J Coward
Journal:  Clin Kidney J       Date:  2013-01-29

Review 7.  Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

Authors:  Yaoyao Zhou; Junfeng Zhang
Journal:  Ital J Pediatr       Date:  2014-09-20       Impact factor: 2.638
  7 in total

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