Literature DB >> 30237254

SRP54 and a need for a new neutropenia nosology.

Usua Oyarbide1, Seth J Corey2.   

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Year:  2018        PMID： 30237254      PMCID： PMC6148449          DOI： 10.1182/blood-2018-07-859959

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


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  9 in total

1.  Dysplastic neutrophils in the bone marrow of a Shwachman-Diamond syndrome patient.

Authors:  Jean-François Lesesve; Julien Broséus
Journal:  Blood       Date:  2017-07-06       Impact factor: 22.113

2.  A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.

Authors:  Olivier Bluteau; Marie Sebert; Thierry Leblanc; Régis Peffault de Latour; Samuel Quentin; Elodie Lainey; Lucie Hernandez; Jean-Hugues Dalle; Flore Sicre de Fontbrune; Etienne Lengline; Raphael Itzykson; Emmanuelle Clappier; Nicolas Boissel; Nadia Vasquez; Mélanie Da Costa; Julien Masliah-Planchon; Wendy Cuccuini; Anna Raimbault; Louis De Jaegere; Lionel Adès; Pierre Fenaux; Sébastien Maury; Claudine Schmitt; Marc Muller; Carine Domenech; Nicolas Blin; Bénédicte Bruno; Isabelle Pellier; Mathilde Hunault; Stéphane Blanche; Arnaud Petit; Guy Leverger; Gérard Michel; Yves Bertrand; André Baruchel; Gérard Socié; Jean Soulier
Journal:  Blood       Date:  2017-11-16       Impact factor: 22.113

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

4.  Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.

Authors:  Polina Stepensky; Montserrat Chacón-Flores; Katherine H Kim; Omar Abuzaitoun; Arnulfo Bautista-Santos; Natalia Simanovsky; Dritan Siliqi; Davide Altamura; Alfonso Méndez-Godoy; Abril Gijsbers; Adeeb Naser Eddin; Talia Dor; Joel Charrow; Nuria Sánchez-Puig; Orly Elpeleg
Journal:  J Med Genet       Date:  2017-03-22       Impact factor: 6.318

5.  Somatic mutations and clonal hematopoiesis in congenital neutropenia.

Authors:  Jun Xia; Christopher A Miller; Jack Baty; Amrita Ramesh; Matthew R M Jotte; Robert S Fulton; Tiphanie P Vogel; Megan A Cooper; Kelly J Walkovich; Vahagn Makaryan; Audrey A Bolyard; Mary C Dinauer; David B Wilson; Adrianna Vlachos; Kasiani C Myers; Robert J Rothbaum; Alison A Bertuch; David C Dale; Akiko Shimamura; Laurence A Boxer; Daniel C Link
Journal:  Blood       Date:  2017-11-01       Impact factor: 22.113

6.  Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.

Authors:  Christine Bellanné-Chantelot; Barbara Schmaltz-Panneau; Caroline Marty; Odile Fenneteau; Isabelle Callebaut; Séverine Clauin; Aurélie Docet; Gandhi-Laurent Damaj; Thierry Leblanc; Isabelle Pellier; Cécile Stoven; Sylvie Souquere; Iléana Antony-Debré; Blandine Beaupain; Nathalie Aladjidi; Vincent Barlogis; Frédéric Bauduer; Philippe Bensaid; Odile Boespflug-Tanguy; Claire Berger; Yves Bertrand; Liana Carausu; Claire Fieschi; Claire Galambrun; Aline Schmidt; Hubert Journel; Françoise Mazingue; Brigitte Nelken; Thuan Chong Quah; Eric Oksenhendler; Marie Ouachée; Marlène Pasquet; Véronique Saada; Felipe Suarez; Gérard Pierron; William Vainchenker; Isabelle Plo; Jean Donadieu
Journal:  Blood       Date:  2018-06-18       Impact factor: 22.113

7.  Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.

Authors:  Michael Kirwan; Amanda J Walne; Vincent Plagnol; Mark Velangi; Aloysius Ho; Upal Hossain; Tom Vulliamy; Inderjeet Dokal
Journal:  Am J Hum Genet       Date:  2012-04-26       Impact factor: 11.025

8.  DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Authors:  Hemanth Tummala; Amanda J Walne; Mike Williams; Nicholas Bockett; Laura Collopy; Shirleny Cardoso; Alicia Ellison; Rob Wynn; Thierry Leblanc; Jude Fitzgibbon; David P Kelsell; David A van Heel; Elspeth Payne; Vincent Plagnol; Inderjeet Dokal; Tom Vulliamy
Journal:  Am J Hum Genet       Date:  2016-06-23       Impact factor: 11.025

9.  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 in total
  2 in total

1.  Acute myeloid leukemia in SRP54-mutated congenital neutropenia.

Authors:  Anthony Sabulski; David D Grier; Kasiani C Myers; Stella M Davies; Jeremy D Rubinstein
Journal:  EJHaem       Date:  2022-03-16

2.  Loss of Sbds in zebrafish leads to neutropenia and pancreas and liver atrophy.

Authors:  Usua Oyarbide; Arish N Shah; Wilmer Amaya-Mejia; Matthew Snyderman; Margaret J Kell; Daniela S Allende; Eliezer Calo; Jacek Topczewski; Seth J Corey
Journal:  JCI Insight       Date:  2020-09-03
  2 in total

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