نتائج البحث - "Wt1 gene"

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 64, № 6 (2019); 94-97 ; Российский вестник перинатологии и педиатрии; Том 64, № 6 (2019); 94-97 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2019-64-6

مصطلحات موضوعية: двусторонняя нефробластома, WT1 gene mutation, bilateral nephroblastoma, мутация гена WT1

وصف الملف: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/1025/877; National Wilms’ Tumor Study Committee. Wilms’ tumor: status report, 1990. J Clin Oncol 1991; 9: 877–887. DOI:10.1200/JCO.1991.9.5.877; Stefan D.C. Patterns of distribution of childhood cancer in Africa. J Trop Pediatr 2015; 61(3): 165–173. DOI:10.1093/tropej/fmv005; Кулева С.А., Имянинов Е.Н. Опухоль Вильмса: синдромальная и молекулярная диагностика. Онкопедиатрия 2017; 4(4): 283–289. DOI:10.15690/onco.v4i4.1814.; Ward E., DeSantis C., Robbins A., Kohler B., Jemal A. Childhood and Adolescent Cancer Statistics, 2014. Cancer J Clin 2014; 64: 83–103. DOI:10.3322/caac.21219; Green D.M. The treatment of stages I–IV favorable histology Wilms’ tumor. J Clin Oncol 2004; 22(8): 1366–1372. DOI:10.1200/JCO.2004.08.008; Weirich A., Ludwig R., Graf N., Abel U., Leuschner I., Vujanic G.M. et al. Survival in nephroblastoma treated according to the trial and study SIOP-9/GPOH with respect to relapse and morbidity. Ann Oncol 2004; 15: 808–820. DOI:10.1093/annonc/mdh171; Denys P., Malvaux P., van den Berghe H., Tanghe W., Proesmans W. Association d’un syndrome anatomo-pathologique de pseudohermaphrodisme masculin, d’une tumeur de Wilms, d’une nephropathie parenchymateuse et d’un mosaicisme XX/XY. Arch Franc Pediat 1967; 24: 729–739.; Drash A., Sherman F., Hartmann W.H., Blizzard R.M. A syndrome of pseudohermaphroditism, Wilms’ tumor, hypertension, and degenerative renal disease. J Pediat 1970; 76: 585– 593. DOI:10.1016/s0022-3476(70)80409-7; Frasier S.D., Bashore R.A., Mosier H.D. Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediat 1964; 64: 740-745. DOI: 10/1016/s0022-2476(64)80622-3; Miller R.W., Fraumeni J.F.Jr., Manning M.D. Association of Wilms’ tumor with aniridia, hemihypertrophy and other congenital malformations. New Eng J Med 1964; 270: 922–927. DOI:10.1056/NEJM196404302701802; Bruening W., Bardeesy N., Silverman B.L., Cohn R.A., Machin G.A., Aronson A.J. et al. Germline intronic and exonic mutations in the Wilms’ tumour gene (WT1) affecting urogenital development. Nat Genet 1992; 1(2): 144–148. DOI:10.1038/ng0592-144; Auber F., Lortat-Jacob S., Sarnacki S., Jaubert F., Salomon R., Thibaud E. et al. Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes). J Pediatr Surg 2003; 38(1): 124–129. DOI:10.1053/jpsu.2003.50025; Takata A., Kikuchi H., Fukuzawa R., Ito S., Honda M., Hata J. Constitutional WT1 correlate with clinical features in children with progressive nephropathy. J Med Genet 2000; 37(9): 698–701. DOI:10.1136/jmg.37.9.698; da Silva T.E., Nishi M.Y., Costa E.M., Martin R.M., Carvalho F.M., Mendonca B.B., Domenice S. A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome. Pediatr Nephrol 2011; 26(8): 1311–1315. DOI:10.1007/s00467-011-1847-4; Fukuzawa R., Sakamoto J., Heathcott R.W., Hata J.I. A necropsy case of Denys–Drash syndrome with a WT1 mutation in exon 7. J Med Genet 2002; 39(8):e48. DOI:10.1136/jmg.39.8.e48; Jeanpierre C., Béroud C., Niaudet P., Junien C. Software and database for the analysis of mutations in the human WT1 gene. Nucleic Acids Res 1998; 26(1): 271–274. DOI:10.1093/nar/26.1.271; Little M., Wells C. A clinical overview of WT1 gene mutations. Hum Mutat 1997; 9(3): 209–225. DOI:10.1002/(SICI)1098-1004(1997)9:33.0.CO;2-2; Bardeesy N., Zabel B., Schmitt K., Pelletier J. WT1 mutations associated with incomplete Denys–Drash syndrome define a domain predicted to behave in a dominant-negative fashion. Genomics 1994; 21(3): 663–664. DOI:10.1006/geno.1994.1333; Weaver J., Rove K.O., Meenakshi-Sundaram B., Vricella G.J. Genetic testing proves crucial in case of ambiguous genitalia and renal masses. Urology 2019; 125: 194–196. DOI:10.1016/j.urology.2019.03.011; Chiang P.W., Aliaga S., Travers S., Spector E., Tsai A.C. Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys–Drash syndrome. Curr Opin Pediatr 2008; 20(1): 103–106. DOI:10.1097/MOP/0b013e-3282f357eb; Lehnhardt A., Karnatz C., Ahlenstiel-Grunow T., Benz K., Benz M.R., Budde K. et al. Clinical and molecular characterization of patients with heterozygous mutations in Wilms tumor suppressor gene 1. Clin J Am Soc Nephrol 2015; 10(5): 825–831. DOI:10.2215/CJN.10141014; Dattolo P., Allinovi M., Iatropoulos P., Michelassi S. Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation. BMJ Case Rep 2013; 27; 2013. DOI:10.1136/bcr-2013-009543; Finken M.J., Hendriks Y.M, van der Voorn J.P., Veening M.A., Lombardi M.P., Rotteveel J. WT1 deletion leading to severe 46, XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report. Horm Res Paediatr 2015; 83(3): 211–216. DOI:10.1159/000368964; Köhler B., Biebermann H., Friedsam V., Gellermann J., Maier R.F., Pohl M. et al. Analysis of the Wilms’ tumor suppressor gene (WT1) in patients 46,XY disorders of sex development. J Clin Endocrinol Metab 2011; 96: E1131–E1136. DOI:10.1210/jc.2010-2804; https://www.ped-perinatology.ru/jour/article/view/1025