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Volumn 76, Issue 2, 2014, Pages 197-201

Testicular failure in a patient with G6PC3 deficiency

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; FOLLITROPIN; GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATASE 3; LUTEINIZING HORMONE; MUELLERIAN INHIBITING FACTOR; TESTOSTERONE; UNCLASSIFIED DRUG; G6PC3 PROTEIN, HUMAN; SEX HORMONE;

EID: 84904612872     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1038/pr.2014.64     Document Type: Article
Times cited : (5)

References (18)
  • 2
    • 58249089770 scopus 로고    scopus 로고
    • A syndrome with congenital neutropenia and mutations in G6PC3
    • Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009;360:32-43
    • (2009) N Engl J Med , vol.360 , pp. 32-43
    • Boztug, K.1    Appaswamy, G.2    Ashikov, A.3
  • 4
    • 80052840923 scopus 로고    scopus 로고
    • Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
    • Cullinane AR, Vilboux T, O'Brien K, et al. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol 2011;131:2017-25
    • (2011) J Invest Dermatol , Issue.131 , pp. 2017-2025
    • Cullinane, A.R.1    Vilboux, T.2    O'Brien, K.3
  • 5
    • 84879886180 scopus 로고    scopus 로고
    • Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency
    • Begin P, Patey N, Mueller P, et al. Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. J Clin Immunol 2013;33:520-5
    • (2013) J Clin Immunol , Issue.33 , pp. 520-525
    • Begin, P.1    Patey, N.2    Mueller, P.3
  • 8
    • 84872738388 scopus 로고    scopus 로고
    • Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase
    • vii
    • Boztug K, Klein C. Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase. Hematol Oncol Clin North Am 2013;27:43-60, vii.
    • (2013) Hematol Oncol Clin North Am , vol.27 , pp. 43-60
    • Boztug, K.1    Klein, C.2
  • 9
    • 79953818388 scopus 로고    scopus 로고
    • G-CSF improves murine G6PC3-deficient neutrophil function by modulating apoptosis and energy homeostasis
    • Jun HS, Lee YM, Song KD, Mansfield BC, Chou JY. G-CSF improves murine G6PC3-deficient neutrophil function by modulating apoptosis and energy homeostasis. Blood 2011;117:3881-92
    • (2011) Blood , vol.117 , pp. 3881-3892
    • Jun, H.S.1    Lee, Y.M.2    Song, K.D.3    Mansfield, B.C.4    Chou, J.Y.5
  • 10
    • 33847420515 scopus 로고    scopus 로고
    • Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose- 6-phosphatase-beta
    • Cheung YY, Kim SY, Yiu WH, et al. Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose- 6-phosphatase-beta. J Clin Invest 2007;117:784-93
    • (2007) J Clin Invest , vol.117 , pp. 784-793
    • Cheung, Y.Y.1    Kim, S.Y.2    Yiu, W.H.3
  • 11
    • 84858335877 scopus 로고    scopus 로고
    • 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, et al. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: Novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr 2012;160:679-683.e2
    • (2012) J Pediatr , vol.160
    • Boztug, K.1    Rosenberg, P.S.2    Dorda, M.3
  • 12
    • 35948971397 scopus 로고    scopus 로고
    • Genetic heterogeneity in severe congenital neutropenia: How many aberrant pathways can kill a neutrophil?
    • Schaffer AA, Klein C. Genetic heterogeneity in severe congenital neutropenia: How many aberrant pathways can kill a neutrophil?. Curr Opin Allergy Clin Immunol 2007;7:481-94
    • (2007) Curr Opin Allergy Clin Immunol , vol.7 , pp. 481-494
    • Schaffer, A.A.1    Klein, C.2
  • 13
    • 79952189099 scopus 로고    scopus 로고
    • A case of syndromic neutropenia and mutation in G6PC3
    • Gatti S, Boztug K, Pedini A, et al. A case of syndromic neutropenia and mutation in G6PC3. J Pediatr Hematol Oncol 2011;33:138-40
    • (2011) J Pediatr Hematol Oncol , Issue.33 , pp. 138-140
    • Gatti, S.1    Boztug, K.2    Pedini, A.3
  • 14
    • 84878258344 scopus 로고    scopus 로고
    • A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency
    • Estevez OA, Ortega C, Tejero A, et al. A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. Pediatr Blood Cancer 2013;60:E29-31
    • (2013) Pediatr Blood Cancer , vol.60
    • Estevez, O.A.1    Ortega, C.2    Tejero, A.3
  • 16
    • 85028120628 scopus 로고    scopus 로고
    • Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
    • Banka S, Chervinsky E, Newman WG, et al. Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet 2011;19:18-22
    • (2011) Eur J Hum Genet , Issue.19 , pp. 18-22
    • Banka, S.1    Chervinsky, E.2    Newman, W.G.3
  • 17
    • 84878818411 scopus 로고    scopus 로고
    • A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations
    • Banka S, Newman WG. A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Orphanet J Rare Dis 2013;8:84
    • (2013) Orphanet J Rare Dis , Issue.8 , pp. 84
    • Banka, S.1    Newman, W.G.2
  • 18
    • 84879753994 scopus 로고    scopus 로고
    • A congenital neutrophil defect syndrome associated with mutations in VPS45
    • Vilboux T, Lev A, Malicdan MC, et al. A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med 2013;369:54-65.
    • (2013) N Engl J Med , Issue.369 , pp. 54-65
    • Vilboux, T.1    Lev, A.2    Malicdan, M.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.