A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104182
Abstract: Disruption of the initiation of DNA replication is significantly associated with Meier-Gorlin syndrome (MGORS), an autosomal recessive condition of reduced growth, microtia and patellar a/hypoplasia. Biallelic mutations in CDC45, a member of the pre-initiation complex… read more here.
Keywords: craniosynostosis; cdc45; exon; meier gorlin ... See more keywords
Colloid cyst and multiple meningiomata in Gorlin syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2017.10.083
Abstract: A middle-aged man presented with syncope and confusion. Neuroimaging revealed a third ventricular mass with obstructive hydrocephalus and bilateral convexity meningiomata. The masses were excised and pathology showed a colloid cyst and WHO grade 1… read more here.
Keywords: gorlin syndrome; multiple meningiomata; colloid cyst;
Establishment of a Gorlin syndrome model from induced neural progenitor cells exhibiting constitutive GLI1 expression and high sensitivity to inhibition by smoothened (SMO)
Sign Up to like & getrecommendations! Published in 2019 at "Laboratory Investigation"
DOI: 10.1038/s41374-019-0346-2
Abstract: The hedgehog signaling pathway is a vital factor for embryonic development and stem cell maintenance. Dysregulation of its function results in tumor initiation and progression. The aim of this research was to establish a disease… read more here.
Keywords: neural progenitor; progenitor cells; hedgehog; induced neural ... See more keywords
565 Gorlin Syndrome: A Case of Recurrence of Odontogenic Keratocysts
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Surgery"
DOI: 10.1093/bjs/znac269.265
Abstract: Gorlin Syndrome (GS) is a rare condition with multisystemic manifestations. Known features include basal cell carcinomas, odontogenic keratocysts (OKCs), and skeletal abnormalities. Multidisciplinary involvement is paramount with surgical intervention as a common treatment modality. Multiple… read more here.
Keywords: 565 gorlin; odontogenic keratocysts; recurrence; case ... See more keywords
Ovarian fibroma as a novel indicator for burden of basal cell carcinoma in women with Gorlin syndrome: a retrospective cross-sectional analysis of the Gorlin syndrome national patient registry
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Women's Dermatology"
DOI: 10.1097/jw9.0000000000000020
Abstract: DOI: 10.1097/JW9.0000000000000020 Dear Editors, Gorlin syndrome (GS), or nevoid basal cell carcinoma syndrome, is caused by pathogenic variant in the PTCH1 tumor suppressor gene and characterized by basal cell carcinomas (BCCs), keratocystic odontogenic tumors of… read more here.
Keywords: burden; basal cell; registry; gorlin syndrome ... See more keywords
SUFU‐associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma
Sign Up to like & getrecommendations! Published in 2023 at "Australasian Journal of Dermatology"
DOI: 10.1111/ajd.14014
Abstract: Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by an aberrant activation of the hedgehog (Hh) pathway, most cases being caused by PTCH1 mutations. However, certain features such as multiple hereditary… read more here.
Keywords: cell carcinoma; basal; basal cell; multiple hereditary ... See more keywords
Surveillance of a large cardiac fibroma in a patient with Gorlin syndrome
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2023-254854
Abstract: © BMJ Publishing Group Limited 2023. No commercial reuse. See rights and permissions. Published by BMJ. DESCRIPTION A male in his 80s was found incidentally to have a large mass in the right ventricle (RV)… read more here.
Keywords: cardiac fibroma; gorlin syndrome; mass; figure ... See more keywords
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
Sign Up to like & getrecommendations! Published in 2022 at "JCI Insight"
DOI: 10.1172/jci.insight.155648
Abstract: The eukaryotic CDC45/MCM2-7/GINS (CMG) helicase unwinds the DNA double helix during DNA replication. The GINS subcomplex is required for helicase activity and is, therefore, essential for DNA replication and cell viability. Here, we report the… read more here.
Keywords: replication; gins3; meier gorlin; gorlin syndrome ... See more keywords
A rare presentation of multiple scrotal basal cell carcinomas secondary to Gorlin’s syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Urology"
DOI: 10.1177/2051415819872922
Abstract: Basal cell carcinoma is the most commonly occurring cancer worldwide but it is rarely seen in non-sun-exposed areas of the body such as the scrotum.1 Basal cell carcinomas account for 5–10% of all scrotal tumours.2,3… read more here.
Keywords: basal; cell carcinoma; basal cell; gorlin syndrome ... See more keywords
Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia
Sign Up to like & getrecommendations! Published in 2018 at "Croatian Medical Journal"
DOI: 10.3325/cmj.2018.59.20
Abstract: We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity.… read more here.
Keywords: mutations ptch1; gorlin syndrome; hot spot; ptch1 gene ... See more keywords
PTCH1 mutant small cell glioblastoma in a patient with Gorlin syndrome: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Oncology Letters"
DOI: 10.3892/ol.2022.13446
Abstract: Gorlin syndrome or nevoid basal cell carcinoma syndrome is a rare genetic disease characterized by predisposition to congenital defects, basal cell carcinomas and medulloblastoma. The syndrome results from a heritable mutation in PATCHED1 (PTCH1), causing… read more here.
Keywords: cell; cell glioblastoma; patient gorlin; small cell ... See more keywords