Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
about
A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41Contributions of PTCH gene variants to isolated cleft lip and palateVismodegib hedgehog-signaling inhibition and treatment of basal cell carcinomas as well as keratocystic odontogenic tumors in Gorlin syndromeMany mosaic mutationsHereditary genodermatoses with cancer predispositionBasal cell carcinomas in gorlin syndrome: a review of 202 patients.Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report.C. elegans patched-3 is an essential gene implicated in osmoregulation and requiring an intact permease transporter domainPTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic reviewDeep sequencing of gastric carcinoma reveals somatic mutations relevant to personalized medicine.Novel patched 1 mutations in patients with nevoid basal cell carcinoma syndrome--case report.Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.Genetics of skin appendage neoplasms and related syndromes.Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.Role of PTCH and p53 genes in early-onset basal cell carcinoma.Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum.PTCH mutations in basal cell carcinomas from azathioprine-treated organ transplant recipients.Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome.The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects.The Hedgehog's tale: developing strategies for targeting cancer.A novel PTCH1 mutation in a patient with Gorlin syndrome.Gamma-irradiation deregulates cell cycle control and apoptosis in nevoid basal cell carcinoma syndrome-derived cells.Patched-one or smoothened gene mutations are infrequent in chondrosarcoma.Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French studyTransducing Hedgehog: the story so farBasal cell carcinomas arise from hair follicle stem cells in Ptch1(+/-) mice.Dual degradation signals control Gli protein stability and tumor formation.Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome.Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to hedgehog-mediated osteogenic induction.Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.New mutations and an updated database for the patched-1 (PTCH1) gene.
P2860
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P2860
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Most germ-line mutations in th ...... otype correlations are evident
@ast
Most germ-line mutations in th ...... otype correlations are evident
@en
Most germ-line mutations in th ...... otype correlations are evident
@en-gb
Most germ-line mutations in th ...... otype correlations are evident
@nl
type
label
Most germ-line mutations in th ...... otype correlations are evident
@ast
Most germ-line mutations in th ...... otype correlations are evident
@en
Most germ-line mutations in th ...... otype correlations are evident
@en-gb
Most germ-line mutations in th ...... otype correlations are evident
@nl
prefLabel
Most germ-line mutations in th ...... otype correlations are evident
@ast
Most germ-line mutations in th ...... otype correlations are evident
@en
Most germ-line mutations in th ...... otype correlations are evident
@en-gb
Most germ-line mutations in th ...... otype correlations are evident
@nl
P2093
P2860
P1476
Most germ-line mutations in th ...... otype correlations are evident
@en
P2093
B Wainwright
P2860
P407
P577
1997-01-01T00:00:00Z