BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

273 related articles for article (PubMed ID: 20616219)

  • 1. 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; 116(15):2793-802. PubMed ID: 20616219
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 116(15):2783-92. PubMed ID: 20498302
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 8():84. PubMed ID: 23758768
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 360(1):32-43. PubMed ID: 19118303
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 23018568
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 22050868
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 23686134
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.
    Lin SR; Pan CJ; Mansfield BC; Chou JY
    Mol Genet Metab; 2015 Jan; 114(1):41-5. PubMed ID: 25492228
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
    Lebel A; Yacobovich J; Krasnov T; Koren A; Levin C; Kaplinsky C; Ravel-Vilk S; Laor R; Attias D; Ben Barak A; Shtager D; Stein J; Kuperman A; Miskin H; Dgany O; Giri N; Alter BP; Tamary H
    Pediatr Blood Cancer; 2015 Jan; 62(1):103-8. PubMed ID: 25284454
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.
    Boulanger C; Stephenne X; Diederich J; Mounkoro P; Chevalier N; Ferster A; Van Schaftingen E; Veiga-da-Cunha M
    J Inherit Metab Dis; 2022 Jul; 45(4):759-768. PubMed ID: 35506446
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 2015 Jan; 94(1):79-82. PubMed ID: 24750412
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by
    Dai R; Lv G; Li W; Tang W; Chen J; Liu Q; Yang L; Zhang M; Tian Z; Zhou L; Yan X; Wang Y; Ding Y; An Y; Zhang Z; Tang X; Zhao X
    Front Immunol; 2021; 12():699743. PubMed ID: 34305938
    [TBL] [Abstract][Full Text] [Related]  

  • 13. G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.
    Kiykim A; Baris S; Karakoc-Aydiner E; Ozen AO; Ogulur I; Bozkurt S; Ataizi CC; Boztug K; Barlan IB
    J Pediatr Hematol Oncol; 2015 Nov; 37(8):616-22. PubMed ID: 26479985
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects.
    McKinney C; Ellison M; Briones NJ; Baroffio A; Murphy J; Tran AD; Reisz JA; D'Alessandro A; Ambruso DR
    Blood Adv; 2020 Dec; 4(23):5888-5901. PubMed ID: 33259599
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.
    Glasser CL; Picoraro JA; Jain P; Kinberg S; Rustia E; Gross Margolis K; Anyane-Yeboa K; Iglesias AD; Green NS
    J Pediatr Hematol Oncol; 2016 Oct; 38(7):e243-7. PubMed ID: 27571123
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 23298686
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.
    Maroufi SF; Shaka Z; Mojtabavi H; Sadeghalvad M; Rayzan E; Sedighi I; Shahkarami S; Najafi M; Rohlfs M; Klein C; Rezaei N
    Endocr Metab Immune Disord Drug Targets; 2021; 21(9):1660-1668. PubMed ID: 34137364
    [TBL] [Abstract][Full Text] [Related]  

  • 18. G-CSF improves murine G6PC3-deficient neutrophil function by modulating apoptosis and energy homeostasis.
    Jun HS; Lee YM; Song KD; Mansfield BC; Chou JY
    Blood; 2011 Apr; 117(14):3881-92. PubMed ID: 21292774
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.
    Notarangelo LD; Savoldi G; Cavagnini S; Bennato V; Vasile S; Pilotta A; Plebani A; Porta F
    Ital J Pediatr; 2014 Nov; 40():80. PubMed ID: 25391451
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 24446813
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 14.