Citations for
1G6PC3, SCNP4
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C.
J Pediatr 160(4):679-683.e2. Epub 2011 Nov 1. 2012
2G6PC3
Functional analysis of the 5' flanking region of the human G6PC3 gene: regulation of promoter activity by glucose, pyruvate, AMP kinase and the pentose phosphate pathway.
Bennett KA, Forsyth L, Burchell A.
Mol Genet Metab 103(3):254-61. Epub 2011 Mar 21. 2011
3G6PC3, SCNP4
Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.
Alizadeh Z, Fazlollahi MR, Eshghi P, Hamidieh AA, Ghadami M, Pourpak Z.
Iran J Allergy Asthma Immunol 10(3):227-30. 2011
4G6PC3, SCNP4
Mutations in the G6PC3 gene cause Dursun syndrome.
Banka S, Newman WG, Ozgül RK, Dursun A.
Am J Med Genet A 152A(10):2609-11.PMID: 20799326 2010
5G6PC3, SCNP4
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, Donnai D, Shalev S.
Eur J Hum Genet ur J Hum Genet. 2010 Aug 18. [Epub ahead of print]PMID: 20717171 2010
6G6PC3, SCNP4
A syndrome with congenital neutropenia and mutations in G6PC3.
Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C.
N Engl J Med 360(1):32-43. 2009
7G6PC3
Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon.
Wang Y, Oeser JK, Yang C, Sarkar S, Hackl SI, Hasty AH, McGuinness OP, Paradee W, Hutton JC, Powell DR, O'Brien RM.
J Biol Chem 281(52):39982-9. Epub 2006 Oct 5. 2006
8G6PC, G6PC3
Identification and characterisation of a new human glucose-6-phosphatase isoform.
Guionie O, Clottes E, Stafford K, Burchell A.
FEBS Lett 551(1-3):159-64. 2003
9G6PC3
Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein.
Martin CC, Oeser JK, Svitek CA, Hunter SI, Hutton JC, O'Brien RM.
J Mol Endocrinol 29(2):205-22. 2002