Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene.

Endocrine journal - 1 Oct 1999

Okuhara K, Tajima S, Nakae J, Sasaki S, Tochimaru H, Abe S, Fujieda K

Abstract excerpt

The Wilms' tumor suppressor gene, WT1, plays an important role in the development of the urogenital system and also subsequent normal function of this system. Recently, the splice mutations in intron 9 of WT1 gene have been detected in Frasier syndrome, which is characterized by streak gonads, pseudohermaphroditism, slowly progressive nephropathy and frequent development of gonadoblastoma. Here to elucidate the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genes, Wilms Tumor
Share to Gonadal Dysgenesis
Share to Kidney Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Failure, Chronic

Share to Kidney Glomerulus

Share to Kidney Transplantation

Share to Nephrotic Syndrome

Share to RNA Splicing

Source

Identifiers

PMID: 10670748
DOI: 10.1507/endocrj.46.639

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene.PMID 10670748Read ↗

WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.Semantic proximity Read ↗

A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9.Semantic proximity Read ↗

46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation.Semantic proximity Read ↗

The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.Semantic proximity Read ↗

A girl with bilateral ovarian tumours: Frasier syndrome.Semantic proximity Read ↗

Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?Semantic proximity Read ↗

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.Semantic proximity Read ↗

[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report].Semantic proximity Read ↗

Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.Semantic proximity Read ↗

Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.Semantic proximity Read ↗

Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.Semantic proximity Read ↗

Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.