Literature DB >> 19696212

A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia.

Juan I Aróstegui, José Sánchez de Toledo, Mariona Pascal, Carlos García, Jordi Yagüe, Cristina Díaz de Heredia.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19696212     DOI： 10.1182/blood-2009-04-219451

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


× No keyword cloud information.
  12 in total

Review 1.  Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.

Authors:  Janice Y Chou; Hyun Sik Jun; Brian C Mansfield
Journal:  Nat Rev Endocrinol       Date:  2010-10-26       Impact factor: 43.330

Review 2.  Periodontal and other oral manifestations of immunodeficiency diseases.

Authors:  M E Peacock; R M Arce; C W Cutler
Journal:  Oral Dis       Date:  2016-10-10       Impact factor: 3.511

3.  Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.

Authors:  David H McDermott; Suk See De Ravin; Hyun Sik Jun; Qian Liu; Debra A Long Priel; Pierre Noel; Clifford M Takemoto; Teresa Ojode; Scott M Paul; Kimberly P Dunsmore; Dianne Hilligoss; Martha Marquesen; Jean Ulrick; Douglas B Kuhns; Janice Y Chou; Harry L Malech; Philip M Murphy
Journal:  Blood       Date:  2010-07-08       Impact factor: 22.113

4.  Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.

Authors:  Bradley N Smith; Catherine Evans; Akbar Ali; Phil J Ancliff; Bu'hussain Hayee; Anthony W Segal; Georgina Hall; Zuhre Kaya; Abdul Rauf Shakoori; David C Linch; Rosemary E Gale
Journal:  Br J Haematol       Date:  2012-04-02       Impact factor: 6.998

5.  G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.

Authors:  Bu'hussain Hayee; Aristotelis Antonopoulos; Emma J Murphy; Farooq Z Rahman; Gavin Sewell; Bradley N Smith; Sara McCartney; Mark Furman; Georgina Hall; Stuart L Bloom; Stuart M Haslam; Howard R Morris; Kaan Boztug; Christoph Klein; Bryan Winchester; Edgar Pick; David C Linch; Rosemary E Gale; Andrew M Smith; Anne Dell; Anthony W Segal
Journal:  Glycobiology       Date:  2011-03-08       Impact factor: 4.313

6.  Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

Authors:  Siddharth Banka; Elena Chervinsky; William G Newman; Yanick J Crow; Shay Yeganeh; Joanne Yacobovich; Dian Donnai; Stavit Shalev
Journal:  Eur J Hum Genet       Date:  2010-08-18       Impact factor: 4.246

7.  Survival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-β (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation.

Authors:  S Gautam; S Kirschnek; I E Gentle; C Kopiniok; P Henneke; H Häcker; L Malleret; A Belaaouaj; G Häcker
Journal:  Cell Death Differ       Date:  2013-05-17       Impact factor: 15.828

8.  Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.

Authors:  Philippe Bégin; Natalie Patey; Pascal Mueller; Andrée Rasquin; Alain Sirard; Christoph Klein; Elie Haddad; Éric Drouin; Françoise Le Deist
Journal:  J Clin Immunol       Date:  2012-11-20       Impact factor: 8.317

Review 9.  Hypothesis: A Novel Neuroprotective Role for Glucose-6-phosphatase (G6PC3) in Brain-To Maintain Energy-Dependent Functions Including Cognitive Processes.

Authors:  Gerald A Dienel
Journal:  Neurochem Res       Date:  2020-08-19       Impact factor: 3.996

10.  Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.

Authors:  Bridget A Fernandez; Jane S Green; Ford Bursey; Brendan Barrett; Andrée MacMillan; Sarah McColl; Sara Fernandez; Proton Rahman; Krista Mahoney; Sergio L Pereira; Stephen W Scherer; Kym M Boycott; Michael O Woods
Journal:  BMC Med Genet       Date:  2012-11-21       Impact factor: 2.103
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.