Literature DB >> 29784638

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

Pilar L Magoulas1,2, Oleg A Shchelochkov3, Matthew N Bainbridge4, Shay Ben-Shachar5, Svetlana Yatsenko6,7,8, Lorraine Potocki1,2, Richard A Lewis2,9, Charles Searby10, Andrea N Marcogliese1,11,12, M Tarek Elghetany1,11,12, Gladys Zapata2,13, Paula P Hernández2,13, Manasi Gadkari14, Derek Einhaus14, Donna M Muzny15, Richard A Gibbs15, Alison A Bertuch1,12, Daryl A Scott1,2,16, Silvia Corvera17, Luis M Franco14.   

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Year:  2018        PMID： 29784638      PMCID： PMC6085991          DOI： 10.1182/blood-2017-12-824433

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  10 in total

1.  Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosis.

Authors:  Deanna M Navaroli; Karl D Bellvé; Clive Standley; Lawrence M Lifshitz; James Cardia; David Lambright; Deborah Leonard; Kevin E Fogarty; Silvia Corvera
Journal:  Proc Natl Acad Sci U S A       Date:  2012-01-30       Impact factor: 11.205

2.  Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.

Authors:  Ilse Meerschaut; Victoria Bordon; Catharina Dhooge; Patricia Delbeke; Arnaud V Vanlander; Amos Simon; Christoph Klein; R Frank Kooy; Raz Somech; Bert Callewaert
Journal:  Am J Med Genet A       Date:  2015-09-11       Impact factor: 2.802

3.  A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.

Authors:  Rikin K Shah; Mary Munson; Klaas J Wierenga; Hanumantha R Pokala; Peter E Newburger; David Crawford
Journal:  Pediatr Blood Cancer       Date:  2017-04-28       Impact factor: 3.167

4.  Role of endocytosis in cellular uptake of sex steroids.

Authors:  Annette Hammes; Thomas K Andreassen; Robert Spoelgen; Jens Raila; Norbert Hubner; Herbert Schulz; Jochen Metzger; Florian J Schweigert; Peter B Luppa; Anders Nykjaer; Thomas E Willnow
Journal:  Cell       Date:  2005-09-09       Impact factor: 41.582

5.  The endocytic pathway acts downstream of Oskar in Drosophila germ plasm assembly.

Authors:  Tsubasa Tanaka; Akira Nakamura
Journal:  Development       Date:  2008-02-13       Impact factor: 6.868

6.  A congenital neutrophil defect syndrome associated with mutations in VPS45.

Authors:  Thierry Vilboux; Atar Lev; May Christine V Malicdan; Amos J Simon; Päivi Järvinen; Tomas Racek; Jacek Puchalka; Raman Sood; Blake Carrington; Kevin Bishop; James Mullikin; Marjan Huizing; Ben Zion Garty; Eran Eyal; Baruch Wolach; Ronit Gavrieli; Amos Toren; Michalle Soudack; Osama M Atawneh; Tatiana Babushkin; Ginette Schiby; Andrew Cullinane; Camila Avivi; Sylvie Polak-Charcon; Iris Barshack; Ninette Amariglio; Gideon Rechavi; Jutte van der Werff ten Bosch; Yair Anikster; Christoph Klein; William A Gahl; Raz Somech
Journal:  N Engl J Med       Date:  2013-06-05       Impact factor: 91.245

7.  Rabenosyn-5 and EHD1 interact and sequentially regulate protein recycling to the plasma membrane.

Authors:  Naava Naslavsky; Markus Boehm; Peter S Backlund; Steve Caplan
Journal:  Mol Biol Cell       Date:  2004-03-12       Impact factor: 4.138

8.  Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain.

Authors:  E Nielsen; S Christoforidis; S Uttenweiler-Joseph; M Miaczynska; F Dewitte; M Wilm; B Hoflack; M Zerial
Journal:  J Cell Biol       Date:  2000-10-30       Impact factor: 10.539

9.  Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.

Authors:  Sylvia Stockler; Silvia Corvera; David Lambright; Kevin Fogarty; Ekaterina Nosova; Deborah Leonard; Robert Steinfeld; Cameron Ackerley; Casper Shyr; Nicolas Au; Kathrin Selby; Margot van Allen; Hilary Vallance; Ron Wevers; David Watkins; David Rosenblatt; Colin J Ross; Elizabeth Conibear; Wyeth Wasserman; Clara van Karnebeek
Journal:  Orphanet J Rare Dis       Date:  2014-09-20       Impact factor: 4.123

10.  The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.

Authors:  Polina Stepensky; Ann Saada; Marianne Cowan; Adi Tabib; Ute Fischer; Yackov Berkun; Hani Saleh; Natalia Simanovsky; Aviram Kogot-Levin; Michael Weintraub; Hamam Ganaiem; Avraham Shaag; Shamir Zenvirt; Arndt Borkhardt; Orly Elpeleg; Nia J Bryant; Dror Mevorach
Journal:  Blood       Date:  2013-04-18       Impact factor: 22.113
  10 in total

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