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Results: 1 to 20 of 121

1.

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

Banka S, Newman WG.

Orphanet J Rare Dis. 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84. Review.

PMID:
23758768
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

G6PC3 mutations cause non-syndromic severe congenital neutropenia.

Banka S, Wynn R, Byers H, Arkwright PD, Newman WG.

Mol Genet Metab. 2013 Feb;108(2):138-41. doi: 10.1016/j.ymgme.2012.12.001. Epub 2012 Dec 21.

PMID:
23298686
[PubMed - indexed for MEDLINE]
3.

Mutations in the G6PC3 gene cause Dursun syndrome.

Banka S, Newman WG, Ozgül RK, Dursun A.

Am J Med Genet A. 2010 Oct;152A(10):2609-11. doi: 10.1002/ajmg.a.33615.

PMID:
20799326
[PubMed - indexed for MEDLINE]
4.

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. 2012 Apr;160(4):679-683.e2. doi: 10.1016/j.jpeds.2011.09.019. Epub 2011 Nov 1.

PMID:
22050868
[PubMed - indexed for MEDLINE]
5.

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. 2009 Jan 1;360(1):32-43. doi: 10.1056/NEJMoa0805051. Erratum in: N Engl J Med. 2011 Apr 28;364(17):1682.

PMID:
19118303
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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. 2011 Jan;19(1):18-22. doi: 10.1038/ejhg.2010.136. Epub 2010 Aug 18.

PMID:
20717171
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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

McDermott DH, De Ravin SS, Jun HS, Liu Q, Priel DA, Noel P, Takemoto CM, Ojode T, Paul SM, Dunsmore KP, Hilligoss D, Marquesen M, Ulrick J, Kuhns DB, Chou JY, Malech HL, Murphy PM.

Blood. 2010 Oct 14;116(15):2793-802. doi: 10.1182/blood-2010-01-265942. Epub 2010 Jul 8.

PMID:
20616219
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.

Aytekin C, Germeshausen M, Tuygun N, Dogu F, Ikinciogullari A.

J Pediatr Hematol Oncol. 2013 Mar;35(2):e81-3. doi: 10.1097/MPH.0b013e3182679000.

PMID:
23018568
[PubMed - indexed for MEDLINE]
9.

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome.

Jun HS, Lee YM, Cheung YY, McDermott DH, Murphy PM, De Ravin SS, Mansfield BC, Chou JY.

Blood. 2010 Oct 14;116(15):2783-92. doi: 10.1182/blood-2009-12-258491. Epub 2010 May 24.

PMID:
20498302
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.

Arikoglu T, Kuyucu N, Germeshausen M, Kuyucu S.

Eur J Haematol. 2014 Apr 21. doi: 10.1111/ejh.12349. [Epub ahead of print]

PMID:
24750412
[PubMed - as supplied by publisher]
11.

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. 2011 Sep;10(3):227-30. doi: 010.03/ijaai.227230.

PMID:
21891829
[PubMed - indexed for MEDLINE]
Free Article
12.

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

Gautam S, Kirschnek S, Gentle IE, Kopiniok C, Henneke P, Häcker H, Malleret L, Belaaouaj A, Häcker G.

Cell Death Differ. 2013 Aug;20(8):1068-79. doi: 10.1038/cdd.2013.39. Epub 2013 May 17.

PMID:
23686134
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A case of syndromic neutropenia and mutation in G6PC3.

Gatti S, Boztug K, Pedini A, Pasqualini C, Albano V, Klein C, Pierani P.

J Pediatr Hematol Oncol. 2011 Mar;33(2):138-40. doi: 10.1097/MPH.0b013e3181f46bf4.

PMID:
21285905
[PubMed - indexed for MEDLINE]
14.

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

Alangari AA, Alsultan A, Osman ME, Anazi S, Alkuraya FS.

J Clin Immunol. 2013 Nov;33(8):1403-6. doi: 10.1007/s10875-013-9945-7. Epub 2013 Oct 9.

PMID:
24105461
[PubMed - indexed for MEDLINE]
15.

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

Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO; FORGE Canada Consortium.

BMC Med Genet. 2012 Nov 21;13:111. doi: 10.1186/1471-2350-13-111.

PMID:
23171239
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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

Hayee B, Antonopoulos A, Murphy EJ, Rahman FZ, Sewell G, Smith BN, McCartney S, Furman M, Hall G, Bloom SL, Haslam SM, Morris HR, Boztug K, Klein C, Winchester B, Pick E, Linch DC, Gale RE, Smith AM, Dell A, Segal AW.

Glycobiology. 2011 Jul;21(7):914-24. doi: 10.1093/glycob/cwr023. Epub 2011 Mar 8.

PMID:
21385794
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Sea-blue histiocytes in the bone marrow of a boy with severe congenital neutropenia associated with G6PC3 mutation.

Tavil B, Cetin M, Gumruk F.

Br J Haematol. 2014 May;165(4):426. doi: 10.1111/bjh.12740. Epub 2014 Jan 21. No abstract available.

PMID:
24446813
[PubMed - indexed for MEDLINE]
18.

A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency.

Estévez OA, Ortega C, Tejero Á, Fernández S, Aguado R, Aróstegui JI, González-Roca E, Peña J, Santamaría M.

Pediatr Blood Cancer. 2013 Jul;60(7):E29-31. doi: 10.1002/pbc.24499. Epub 2013 Feb 25.

PMID:
23441086
[PubMed - indexed for MEDLINE]
19.

Glucose-6-phosphatase deficiency.

Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P.

Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Review.

PMID:
21599942
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Digenic mutations in severe congenital neutropenia.

Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K.

Haematologica. 2010 Jul;95(7):1207-10. doi: 10.3324/haematol.2009.017665. Epub 2010 Mar 10.

PMID:
20220065
[PubMed - indexed for MEDLINE]
Free PMC Article

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