Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?
作者信息
Koziell A, Grundy R
机构信息
Department of Molecular Medicine, Institute of Child Health, 30, Guilford Street, London WC1N, UK.
出版信息
Arch Dis Child. 1999 Oct;81(4):365-9. doi: 10.1136/adc.81.4.365.
Abstract
摘要
相似文献
1
Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?弗雷泽综合征和迪尼-德拉斯综合征：不同的疾病还是谱系的一部分？
Arch Dis Child. 1999 Oct;81(4):365-9. doi: 10.1136/adc.81.4.365.
2
Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome.
J Pediatr Endocrinol Metab. 2001 May;14(5):561-4. doi: 10.1515/jpem.2001.14.5.561.
3
Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.弗雷泽综合征的分子分析：一名患有性腺发育不全和肾单位肾痨的女孩的WT1基因突变
J Pediatr Endocrinol Metab. 2002 Jul-Aug;15(7):1047-50. doi: 10.1515/jpem.2002.15.7.1047.
4
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.患有或未患有威尔姆斯瘤的弗雷泽综合征患者存在影响WT1基因剪接的相同突变。
Hum Mutat. 1999;13(2):146-53. doi: 10.1002/(SICI)1098-1004(1999)13:2<146::AID-HUMU7>3.0.CO;2-I.
5
Distinct molecular origins for Denys-Drash and Frasier syndromes.Denys-Drash综合征和Frasier综合征的不同分子起源。
Hum Genet. 1993 Apr;91(3):285-6. doi: 10.1007/BF00218274.
6
Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes.与迪尼斯-德拉斯综合征和弗雷泽综合征相关的肾病表型遗传异质性的证据。
Am J Hum Genet. 1999 Jun;64(6):1778-81. doi: 10.1086/302409.
7
Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases?伴有威尔姆斯瘤或性腺发育不全的肾病：不完全型迪尼-德拉斯综合征还是独立疾病？
Eur J Pediatr. 1995 Jul;154(7):577-81. doi: 10.1007/BF02074838.
8
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene.一例由WT1基因剪接连接点突变引起的弗雷泽综合征日本病例。
Endocr J. 1999 Oct;46(5):639-42. doi: 10.1507/endocrj.46.639.
9
Inherited WT1 mutation in Denys-Drash syndrome.迪尼-德拉斯综合征中的遗传性WT1突变。
Cancer Res. 1992 Nov 1;52(21):6125-8.
10
Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene.
J Pediatr. 2001 Mar;138(3):425-7. doi: 10.1067/mpd.2001.111317.
引用本文的文献
1
WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance.一名表型为女性儿童的WT1相关性肾病：临床与基因不一致的病例
Children (Basel). 2025 May 2;12(5):595. doi: 10.3390/children12050595.
2
Disorders of sexual development: structured radiological reporting and practical approach.性发育障碍：结构化的放射学报告和实用方法。
Abdom Radiol (NY). 2024 Feb;49(2):523-534. doi: 10.1007/s00261-023-04066-x. Epub 2023 Oct 13.
3
Bilateral Gonadal Dysgerminoma in a Phenotypic Female With 46,XY Disorder of Sexual Development: A Case Report.一名患有46,XY性发育障碍的表型女性双侧性腺无性细胞瘤：病例报告
Cureus. 2023 Apr 26;15(4):e38149. doi: 10.7759/cureus.38149. eCollection 2023 Apr.
4
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.WT1 完全性性腺发育不全伴膜增生性肾小球肾炎：病例系列及文献复习。
Pediatr Nephrol. 2022 Oct;37(10):2369-2374. doi: 10.1007/s00467-022-05421-8. Epub 2022 Feb 24.
5
Suspicion of Frasier's Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of Literature.海地国立大学医院肾病科对弗雷泽综合征的疑似病例：病例研究及文献综述
Int Med Case Rep J. 2021 Aug 12;14:533-538. doi: 10.2147/IMCRJ.S325619. eCollection 2021.
6
Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications.与Denys-Drash综合征相关的WT1谷氨酰胺369突变体具有改变的序列偏好和对表观遗传修饰的改变反应。
Nucleic Acids Res. 2016 Dec 1;44(21):10165-10176. doi: 10.1093/nar/gkw766. Epub 2016 Sep 4.
7
Diffuse mesangial sclerosis - Report of two cases.弥漫性系膜硬化——两例报告
Indian J Nephrol. 2012 May;22(3):213-6. doi: 10.4103/0971-4065.98764.
8
Case report: Denys- Drash syndrome.病例报告：迪尼-德拉斯综合征。
Eur Arch Paediatr Dent. 2007 Dec;8(4):219-23. doi: 10.1007/BF03262601.
本文引用的文献
1
GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.单卵双胞胎中与单纯性腺发育不全相关的性腺母细胞瘤
J Pediatr. 1964 May;64:740-5. doi: 10.1016/s0022-3476(64)80622-3.
2
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.与WT1错义突变相关的早发性肾病综合征的谱系
Kidney Int. 1998 Jun;53(6):1594-600. doi: 10.1046/j.1523-1755.1998.00948.x.
3
Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.肾母细胞瘤1和Dax-1在性别特异性基因表达中调节孤儿核受体SF-1。
Cell. 1998 May 1;93(3):445-54. doi: 10.1016/s0092-8674(00)81172-1.
4
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.孤立性弥漫性系膜硬化患者中胚系WT1突变的鉴定及利用计算机化突变数据库分析基因型/表型相关性
Am J Hum Genet. 1998 Apr;62(4):824-33. doi: 10.1086/301806.
5
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.弗雷泽综合征是由WT1基因的异常可变剪接引起的，导致WT1 +/-KTS剪接异构体的比例发生改变。
Hum Mol Genet. 1998 Apr;7(4):709-14. doi: 10.1093/hmg/7.4.709.
6
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?影响WT1基因第9外显子剪接的内含子突变会导致弗雷泽综合征吗？
J Med Genet. 1998 Jan;35(1):45-8. doi: 10.1136/jmg.35.1.45.
7
Software and database for the analysis of mutations in the human WT1 gene.用于分析人类WT1基因突变的软件和数据库。
Nucleic Acids Res. 1998 Jan 1;26(1):271-4. doi: 10.1093/nar/26.1.271.
8
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.WT1基因的供体剪接位点突变是弗雷泽综合征的病因。
Nat Genet. 1997 Dec;17(4):467-70. doi: 10.1038/ng1297-467.
9
A clinical overview of WT1 gene mutations.WT1基因突变的临床概述。
Hum Mutat. 1997;9(3):209-25. doi: 10.1002/(SICI)1098-1004(1997)9:3<209::AID-HUMU2>3.0.CO;2-2.
10
WT1 expression alters tumorigenicity of the G401 kidney-derived cell line.WT1表达改变了源自G401肾细胞系的致瘤性。
Cell Growth Differ. 1995 Dec;6(12):1609-17.
Zotero 插件