Literature DB >> 28062395

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

Santhosh Dhanraj1,2, Anna Matveev1,2, Hongbing Li1, Supanun Lauhasurayotin1,3, Lawrence Jardine4, Michaela Cada3, Bozana Zlateska1, Chetankumar S Tailor1, Joseph Zhou1, Roberto Mendoza-Londono5, Ajoy Vincent6, Peter R Durie7, Stephen W Scherer1,8,9, Johanna M Rommens1,9, Elise Heon1,6, Yigal Dror1,2,3.   

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Year:  2017        PMID： 28062395     DOI： 10.1182/blood-2016-08-735431

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


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  36 in total

Review 1.  Genetic predisposition to MDS: clinical features and clonal evolution.

Authors:  Alyssa L Kennedy; Akiko Shimamura
Journal:  Blood       Date:  2019-01-22       Impact factor: 22.113

Review 2.  Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.

Authors:  Valentino Bezzerri; Marco Cipolli
Journal:  Mol Diagn Ther       Date:  2019-04       Impact factor: 4.074

Review 3.  New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing.

Authors:  Seth J Corey; Usua Oyarbide
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2017-12-08

Review 4.  Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes.

Authors:  Allison H West; Jane E Churpek
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2017-12-08

Review 5.  Pediatric leukemia susceptibility disorders: manifestations and management.

Authors:  Lisa J McReynolds; Sharon A Savage
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2017-12-08

6.  Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure.

Authors:  Stephanie Heidemann; Brian Bursic; Sasan Zandi; Hongbing Li; Sagi Abelson; Robert J Klaassen; Sharon Abish; Meera Rayar; Vicky R Breakey; Houtan Moshiri; Santhosh Dhanraj; Richard de Borja; Adam Shlien; John E Dick; Yigal Dror
Journal:  JCI Insight       Date:  2020-02-27

7.  Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.

Authors:  Abhishek A Mangaonkar; Alejandro Ferrer; Filippo Pinto E Vairo; Margot A Cousin; Ryan J Kuisle; Naseema Gangat; William J Hogan; Mark R Litzow; Tammy M McAllister; Eric W Klee; Konstantinos N Lazaridis; A Keith Stewart; Mrinal M Patnaik
Journal:  Mayo Clin Proc       Date:  2019-06-27       Impact factor: 7.616

8.  Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Authors:  Raphael Carapito; Martina Konantz; Catherine Paillard; Zhichao Miao; Angélique Pichot; Magalie S Leduc; Yaping Yang; Katie L Bergstrom; Donald H Mahoney; Deborah L Shardy; Ghada Alsaleh; Lydie Naegely; Aline Kolmer; Nicodème Paul; Antoine Hanauer; Véronique Rolli; Joëlle S Müller; Elisa Alghisi; Loïc Sauteur; Cécile Macquin; Aurore Morlon; Consuelo Sebastia Sancho; Patrizia Amati-Bonneau; Vincent Procaccio; Anne-Laure Mosca-Boidron; Nathalie Marle; Naël Osmani; Olivier Lefebvre; Jacky G Goetz; Sule Unal; Nurten A Akarsu; Mirjana Radosavljevic; Marie-Pierre Chenard; Fanny Rialland; Audrey Grain; Marie-Christine Béné; Marion Eveillard; Marie Vincent; Julien Guy; Laurence Faivre; Christel Thauvin-Robinet; Julien Thevenon; Kasiani Myers; Mark D Fleming; Akiko Shimamura; Elodie Bottollier-Lemallaz; Eric Westhof; Claudia Lengerke; Bertrand Isidor; Seiamak Bahram
Journal:  J Clin Invest       Date:  2017-10-03       Impact factor: 14.808

9.  A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia.

Authors:  Zeren Barış; Figen Özçay; Lale Olcay; Serdar Ceylaner; Taner Sezer
Journal:  J Pediatr Genet       Date:  2018-03-07

10.  EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

Authors:  Shengjiang Tan; Laëtitia Kermasson; Angela Hoslin; Pekka Jaako; Alexandre Faille; Abraham Acevedo-Arozena; Etienne Lengline; Dana Ranta; Maryline Poirée; Odile Fenneteau; Hubert Ducou le Pointe; Stefano Fumagalli; Blandine Beaupain; Patrick Nitschké; Christine Bôle-Feysot; Jean-Pierre de Villartay; Christine Bellanné-Chantelot; Jean Donadieu; Caroline Kannengiesser; Alan J Warren; Patrick Revy
Journal:  Blood       Date:  2019-05-31       Impact factor: 22.113
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