Literature DB >> 22469094

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

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.   

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Year:  2012        PMID： 22469094      PMCID： PMC4533883          DOI： 10.1111/j.1365-2141.2012.09110.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  10 in total

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

Authors:  Juan I Aróstegui; José Sánchez de Toledo; Mariona Pascal; Carlos García; Jordi Yagüe; Cristina Díaz de Heredia
Journal:  Blood       Date:  2009-08-20       Impact factor: 22.113

2.  Digenic mutations in severe congenital neutropenia.

Authors:  Manuela Germeshausen; Cornelia Zeidler; Manfred Stuhrmann; Marina Lanciotti; Matthias Ballmaier; Karl Welte
Journal:  Haematologica       Date:  2010-03-10       Impact factor: 9.941

3.  Variability of bone marrow morphology in G6PC3 mutations: is there a genotype-phenotype correlation or age-dependent relationship?

Authors:  Siddharth Banka; Robert Wynn; William G Newman
Journal:  Am J Hematol       Date:  2011-02       Impact factor: 10.047

4.  Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

Authors:  Kaan Boztug; Philip S Rosenberg; Marie Dorda; Siddharth Banka; Thomas Moulton; Julie Curtin; Nima Rezaei; John Corns; Jeffrey W Innis; Zekai Avci; Hung Chi Tran; Isabelle Pellier; Paolo Pierani; Rachel Fruge; Nima Parvaneh; Setareh Mamishi; Rajen Mody; Phil Darbyshire; Jayashree Motwani; Jennie Murray; George R Buchanan; William G Newman; Blanche P Alter; Laurence A Boxer; Jean Donadieu; Karl Welte; Christoph Klein
Journal:  J Pediatr       Date:  2011-11-01       Impact factor: 4.406

5.  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

6.  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

7.  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

8.  Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

Authors:  Jun Xia; Audrey A Bolyard; Elin Rodger; Steve Stein; Andrew A Aprikyan; David C Dale; Daniel C Link
Journal:  Br J Haematol       Date:  2009-09-22       Impact factor: 6.998

9.  Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

Authors:  Bradley N Smith; Phil J Ancliff; Arnold Pizzey; Asim Khwaja; David C Linch; Rosemary E Gale
Journal:  Br J Haematol       Date:  2008-11-22       Impact factor: 6.998

10.  A syndrome with congenital neutropenia and mutations in G6PC3.

Authors:  Kaan Boztug; Giridharan Appaswamy; Angel Ashikov; Alejandro A Schäffer; Ulrich Salzer; Jana Diestelhorst; Manuela Germeshausen; Gudrun Brandes; Jacqueline Lee-Gossler; Fatih Noyan; Anna-Katherina Gatzke; Milen Minkov; Johann Greil; Christian Kratz; Theoni Petropoulou; Isabelle Pellier; Christine Bellanné-Chantelot; Nima Rezaei; Kirsten Mönkemöller; Noha Irani-Hakimeh; Hans Bakker; Rita Gerardy-Schahn; Cornelia Zeidler; Bodo Grimbacher; Karl Welte; Christoph Klein
Journal:  N Engl J Med       Date:  2009-01-01       Impact factor: 91.245
  10 in total
  9 in total

1.  Chronic neutropenic colitis with complete colonic obstruction in a patient with severe congenital neutropenia associated with G6PC3 mutations.

Authors:  Taxiarchis Konstantinos Nikolouzakis; Konstantinos Spyridakis; Maria Tzardi; Grigorios Tsaknakis; Maria Ximeri; Maksim Klimiankou; Emmanuel Chrysos; Julia Skokowa; Helen A Papadaki
Journal:  Ann Hematol       Date:  2022-01-27       Impact factor: 3.673

2.  Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.

Authors:  Su Ru Lin; Chi-Jiunn Pan; Brian C Mansfield; Janice Yang Chou
Journal:  Mol Genet Metab       Date:  2014-11-26       Impact factor: 4.797

Review 3.  Animal models of human granulocyte diseases.

Authors:  Alejandro A Schäffer; Christoph Klein
Journal:  Hematol Oncol Clin North Am       Date:  2012-10-31       Impact factor: 3.722

4.  A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.

Authors:  Abdullah A Alangari; Abdulrahman Alsultan; Mohamed Elfaki Osman; Shamsa Anazi; Fowzan S Alkuraya
Journal:  J Clin Immunol       Date:  2013-10-09       Impact factor: 8.317

5.  Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.

Authors:  Lucia Dora Notarangelo; Gianfranco Savoldi; Sara Cavagnini; Veronica Bennato; Sabrina Vasile; Alba Pilotta; Alessandro Plebani; Fulvio Porta
Journal:  Ital J Pediatr       Date:  2014-11-14       Impact factor: 2.638

Review 6.  Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Authors:  Swati Chaturvedi; Ashok K Singh; Amit K Keshari; Siddhartha Maity; Srimanta Sarkar; Sudipta Saha
Journal:  Scientifica (Cairo)       Date:  2016-03-09

7.  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

Review 8.  A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.

Authors:  Siddharth Banka; William G Newman
Journal:  Orphanet J Rare Dis       Date:  2013-06-13       Impact factor: 4.123

9.  Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.

Authors:  Claire Desplantes; Marie Louise Fremond; Blandine Beaupain; Jean Luc Harousseau; Agnès Buzyn; Isabelle Pellier; Gaelle Roques; Pierre Morville; Catherine Paillard; Julie Bruneau; Lucile Pinson; Eric Jeziorski; Jean Pierre Vannier; Capucine Picard; Florence Bellanger; Norma Romero; Loïc de Pontual; Hélène Lapillonne; Patrick Lutz; Christine Bellanné Chantelot; Jean Donadieu
Journal:  Orphanet J Rare Dis       Date:  2014-12-10       Impact factor: 4.123
  9 in total

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