Ask about this productRelated genes to: Sufu antibody
- Gene:
- SUFU NIH gene
- Name:
- SUFU negative regulator of hedgehog signaling
- Previous symbol:
- -
- Synonyms:
- SUFUH, SUFUXL, PRO1280
- Chromosome:
- 10q24.32
- Locus Type:
- gene with protein product
- Date approved:
- 2001-08-28
- Date modifiied:
- 2019-04-23
Related products to: Sufu antibody
Related articles to: Sufu antibody
- Gorlin-Goltz syndrome is a rare tumor-predisposing condition caused by genetic variants in the and SUFU pathways. The list of genetic variants associated with Gorlin-Goltz syndrome is not yet exhaustive. In this study, we present a unique case with typical features and a genetic variant previously classified as a variant of uncertain significance. - Source: PubMed
Publication date: 2026/04/01
Oelmeier KathrinHorváth JuditVogtmann RebekkaMeyer-Wittkopf MatthiasMöllers MareikeSchmitz RalfOberste Kathleen MarieWilly Daniela - - Source: PubMed
Publication date: 2026/04/06
Ackerman A Lenore - Genitourinary syndrome of menopause (GSM), previously known as vulvovaginal atrophy, is a chronic, progressive hypoestrogenic condition affecting vulvovaginal, urinary and sexual health in women. Common symptoms include vaginal dryness, itching, dyspareunia, urinary urgency and recurrent urinary tract infections (UTIs). Despite the high prevalence, GSM is underdiagnosed and undertreated, thereby negatively impacting women's quality of life. To illustrate the practical aspects of GSM diagnosis and provide evidence-based management, we present a case-based narrative review synthesizing recently published, high-quality evidence. - Source: PubMed
Publication date: 2026/03/12
Cyriac JissySood Richa - Individuals meeting clinical diagnostic criteria for Gorlin syndrome typically harbor germline pathogenic variants in or . The molecular basis of a proportion of cases remains unresolved, with mosaicism a possible explanation for some of these unexplained cases. - Source: PubMed
Publication date: 2026/03/26
Dwarte Tanya MAlli RozannaSrinivasa ShwetaNoon FallonPerera Kimmantudawage SumuduGordon LisaBeshay VictoriaJoshua Anthony MRuiz Araujo RaquelJalilian ChrisThomas David MSmith Miriam JWinship IngridBallinger Mandy LLi MinminTucker Katherine MCourtney Eliza K - Gorlin-Goltz syndrome, also called Basal cell nevus syndrome (BCNS), Nevoid basal cell carcinoma syndrome (NBCCS), or Basal nevus cell carcinoma syndrome (BNCCS) is a rare, inherited, autosomal dominant genodermatoses, with variable expression and complete penetrance, characterized by the occurrence of multiple basal cell carcinomas (BCCs) at a young age, palmoplantar pits, keratocystic odontogenic tumors, intracranial ectopic calcifications, facial dysmorphism, and ocular and skeletal anomalies. It occurs due to a defective hedgehog cell signaling pathway, caused by heterozygous germ-line mutations in either Patched 1 (PTCH1), Suppressor of fused (SUFU), Smoothened (SMO), or Patched 2 (PTCH2) genes, leading to tumorigenesis and various developmental anomalies. Because of variable phenotypic expression, the syndrome is difficult to diagnose and is often diagnosed late, increasing the risk of morbidity and rarely mortality in the patients. The gene mutated also determines the phenotypic expression of the syndrome. Detection of the gene mutated plays an important role in, antenatal diagnosis, confirming the diagnosis when in doubt clinically and predictive diagnosis in family members of the affected individuals, which helps us to diagnose the syndrome early, hence screen for various clinical manifestations at the appropriate age according to the gene that is mutated and initiate early treatment to reduce morbidity and mortality. - Source: PubMed
Publication date: 2026/02/27
Madhu M