192 related articles for article (PubMed ID: 33259599)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Neutrophil dysfunction triggers inflammatory bowel disease in G6PC3 deficiency.
Goenka A; Doherty JA; Al-Farsi T; Jagger C; Banka S; Cheesman E; Fagbemi A; Hughes SM; Wynn RF; Hussell T; Arkwright PD
J Leukoc Biol; 2021 Jun; 109(6):1147-1154. PubMed ID: 32930428
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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. PubMed ID: 23441086
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. [Congenital neutropenia type IV: case report].
Peruffo MV; Nainsztein G; Salvaneschi Quiña V; Samaruga C; Cuello MF; Romano S; Caferri H
Arch Argent Pediatr; 2022 Oct; 120(5):e213-e217. PubMed ID: 36190223
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Abnormal regulation in the signal transduction in neutrophils from patients with severe congenital neutropenia: relation of impaired mobilization of cytosolic free calcium to altered chemotaxis, superoxide anion generation and F-actin content.
Elsner J; Roesler J; Emmendörffer A; Lohmann-Matthes ML; Welte K
Exp Hematol; 1993 Jan; 21(1):38-46. PubMed ID: 7678087
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
