Literature DB >> 31463586

An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers.

Minh Dien Duong1, Chelsi M Rose2,3, Kimberly J Reidy2, Marcela Del Rio2.   

Abstract

Entities:  

Keywords:  ARC syndrome; Arthrogryposis; Proteinuria; Renal tubular acidosis; VPSSB and VIPAR genes

Year:  2019        PMID： 31463586     DOI： 10.1007/s00467-019-04338-z

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  15 in total

1.  Agranular platelets as a cardinal feature of ARC syndrome.

Authors:  Seong Min Kim; Hye Kyung Chang; Jae Woo Song; Hong Koh; Seok Joo Han
Journal:  J Pediatr Hematol Oncol       Date:  2010-05       Impact factor: 1.289

2.  Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis.

Authors:  Bryan Lo; Ling Li; Paul Gissen; Hilary Christensen; Patrick J McKiernan; Charles Ye; Mohamed Abdelhaleem; Jason A Hayes; Michael D Williams; David Chitayat; Walter H A Kahr
Journal:  Blood       Date:  2005-08-25       Impact factor: 22.113

3.  Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

Authors:  Andrew R Cullinane; Anna Straatman-Iwanowska; Jeong K Seo; Jae S Ko; Kyung S Song; Maria Gizewska; Dariusz Gruszfeld; Dorota Gliwicz; Beyhan Tuysuz; Gulin Erdemir; Rachid Sougrat; Yoshiyuki Wakabayashi; Rupert Hinds; Angela Barnicoat; Hanna Mandel; David Chitayat; Björn Fischler; Angels Garcia-Cazorla; A S Knisely; Deirdre A Kelly; Eamonn R Maher; Paul Gissen
Journal:  Hum Mutat       Date:  2009-02       Impact factor: 4.878

4.  Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

Authors:  Paul Gissen; Colin A Johnson; Neil V Morgan; Janneke M Stapelbroek; Tim Forshew; Wendy N Cooper; Patrick J McKiernan; Leo W J Klomp; Andrew A M Morris; James E Wraith; Patricia McClean; Sally A Lynch; Richard J Thompson; Bryan Lo; Oliver W Quarrell; Maja Di Rocco; Richard C Trembath; Hanna Mandel; S Wali; Fiona E Karet; A S Knisely; Roderick H J Houwen; Deirdre A Kelly; Eamonn R Maher
Journal:  Nat Genet       Date:  2004-03-28       Impact factor: 38.330

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.  Clinical and molecular genetic features of ARC syndrome.

Authors:  Paul Gissen; Louise Tee; Colin A Johnson; Emmanuelle Genin; Almuth Caliebe; David Chitayat; Carol Clericuzio; Jonas Denecke; Maja Di Rocco; Björn Fischler; David FitzPatrick; Angeles García-Cazorla; Delphine Guyot; Sebastien Jacquemont; Sibylle Koletzko; Bruno Leheup; Hanna Mandel; Maria Teresa Vieira Sanseverino; Roderick H J Houwen; Patrick J McKiernan; Deirdre A Kelly; Eamonn R Maher
Journal:  Hum Genet       Date:  2006-08-01       Impact factor: 4.132

7.  Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

Authors:  Holly Smith; Romain Galmes; Ekaterina Gogolina; Anna Straatman-Iwanowska; Kim Reay; Blerida Banushi; Christopher K Bruce; Andrew R Cullinane; Rene Romero; Richard Chang; Oanez Ackermann; Clarisse Baumann; Hakan Cangul; Fatma Cakmak Celik; Canan Aygun; Richard Coward; Carlo Dionisi-Vici; Barbara Sibbles; Carol Inward; Chong Ae Kim; Judith Klumperman; A S Knisely; Steven P Watson; Paul Gissen
Journal:  Hum Mutat       Date:  2012-08-06       Impact factor: 4.878

8.  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 9.  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

10.  Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.

Authors:  Alejandra Rosales; Maissa Mhibik; Paul Gissen; Oscar Segarra; Susana Redecillas; Gema Ariceta
Journal:  BMC Nephrol       Date:  2018-06-15       Impact factor: 2.388
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  2 in total

1.  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

2.  Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant.

Authors:  Natália Duarte Linhares; Eleonora Druve Tavares Fagundes; Alexandre Rodrigues Ferreira; Thaís Costa Nascentes Queiroz; Luiz Roberto da Silva; Sergio D J Pena
Journal:  Front Genet       Date:  2022-02-25       Impact factor: 4.599
  2 in total

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