×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome.
13851319
1960
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
CLINGEN
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
8681379
1996
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
CLINGEN
Heritable mutations in BCNS patients and a somatic mutation in a sporadic BCC were identified in a human homolog of the Drosophila patched (ptc ) gene.
8658145
1996
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Heritable mutations in BCNS patients and a somatic mutation in a sporadic BCC were identified in a human homolog of the Drosophila patched (ptc ) gene.
8658145
1996
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
GeneticVariation
UNIPROT
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
8840969
1996
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
GeneticVariation
CLINVAR
Heritable mutations in BCNS patients and a somatic mutation in a sporadic BCC were identified in a human homolog of the Drosophila patched (ptc ) gene.
8658145
1996
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
CausalMutation
CLINVAR
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
8681379
1996
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
BEFREE
The Patched (PTCH ) gene, which is mutated in naevoid basal cell carcinoma syndrome (NBCCS or Gorlin syndrome ) lies in this interval and all MSSE families have been shown to share a common haplotype at three novel intragenic PTCH polymorphisms.
9439661
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
CausalMutation
CLINVAR
In order to examine the phenotypic variability in NBCCS and to highlight functionally important domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons.
8981943
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
CausalMutation
CLINVAR
De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.
9415689
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
GeneticVariation
BEFREE
In order to examine the phenotypic variability in NBCCS and to highlight functionally important domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons.
8981943
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
BEFREE
PTCH was recently proposed as a candidate gene for NBCCS due to its frequent mutation in basal cell carcinomas, the cancer most often associated with this syndrome.
9041183
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
MGD
The PATCHED (PTC ) gene encodes a Sonic hedgehog (Shh) receptor and a tumor suppressor protein that is defective in basal cell nevus syndrome (BCNS ).
9262482
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
GeneticVariation
CLINVAR
In order to examine the phenotypic variability in NBCCS and to highlight functionally important domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons.
8981943
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
CLINGEN
The PATCHED (PTC ) gene encodes a Sonic hedgehog (Shh) receptor and a tumor suppressor protein that is defective in basal cell nevus syndrome (BCNS ).
9262482
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
GeneticVariation
UNIPROT
In order to examine the phenotypic variability in NBCCS and to highlight functionally important domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons.
8981943
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
GeneticVariation
BEFREE
The demonstration that mutations in the Patched (PTCH ) gene cause nevoid basal cell carcinoma syndrome (NBCCS ) has led to the identification of the exact molecular lesion in a percentage of individuals with the syndrome.
9415689
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
GeneticVariation
BEFREE
Gorlin syndrome : identification of 4 novel germ-line mutations of the human patched (PTCH ) gene. Mutations in brief no. 137. Online.
10200051
1998
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
GeneticVariation
UNIPROT
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.
9620294
1998
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
CausalMutation
CLINVAR
Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.
9620294
1998
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
MGD
Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome.
9585239
1998
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
GeneticVariation
BEFREE
PTCH gene deletion was detected in the tumors of both patients with NBCCS .
10375116
1999
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
GeneticVariation
BEFREE
Involvement of patched (PTCH ) gene in Gorlin syndrome and related disorders: three family cases.
10554356
1999
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
CLINGEN
Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice.
10545995
1999