PMID- 8681379
OWN - NLM
STAT- MEDLINE
DCOM- 19960816
LR  - 20220224
IS  - 0092-8674 (Print)
IS  - 0092-8674 (Linking)
VI  - 85
IP  - 6
DP  - 1996 Jun 14
TI  - Mutations of the human homolog of Drosophila patched in the nevoid basal cell 
      carcinoma syndrome.
PG  - 841-51
AB  - The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant 
      disorder characterized by multiple basal cell carcinomas (BCCs), pits of the 
      palms and soles, jaw keratocysts, a variety of other tumors, and developmental 
      abnormalities. NBCCS maps to chromosome 9q22.3. Familial and sporadic BCCs 
      display loss of heterozygosity in this region, consistent with the gene being a 
      tumor suppressor. A human sequence (PTC) with strong homology to the Drosophila 
      segment polarity gene, patched, was isolated from a YAC and cosmid contig of the 
      NBCCS region. Mutation analysis revealed alterations of PTC in NBCCS patients and 
      in related tumors. We propose that a reduction in expression of the patched gene 
      can lead to the developmental abnormalities observed in the syndrome and that 
      complete loss of patched function contributes to transformation of certain cell 
      types.
FAU - Hahn, H
AU  - Hahn H
AD  - Centre for Molecular and Cell Biology, University of Queensland, St. Lucia, 
      Australia.
FAU - Wicking, C
AU  - Wicking C
FAU - Zaphiropoulous, P G
AU  - Zaphiropoulous PG
FAU - Gailani, M R
AU  - Gailani MR
FAU - Shanley, S
AU  - Shanley S
FAU - Chidambaram, A
AU  - Chidambaram A
FAU - Vorechovsky, I
AU  - Vorechovsky I
FAU - Holmberg, E
AU  - Holmberg E
FAU - Unden, A B
AU  - Unden AB
FAU - Gillies, S
AU  - Gillies S
FAU - Negus, K
AU  - Negus K
FAU - Smyth, I
AU  - Smyth I
FAU - Pressman, C
AU  - Pressman C
FAU - Leffell, D J
AU  - Leffell DJ
FAU - Gerrard, B
AU  - Gerrard B
FAU - Goldstein, A M
AU  - Goldstein AM
FAU - Dean, M
AU  - Dean M
FAU - Toftgard, R
AU  - Toftgard R
FAU - Chenevix-Trench, G
AU  - Chenevix-Trench G
FAU - Wainwright, B
AU  - Wainwright B
FAU - Bale, A E
AU  - Bale AE
LA  - eng
SI  - GENBANK/U43148
GR  - K11CA60199/CA/NCI NIH HHS/United States
GR  - P30CA16359/CA/NCI NIH HHS/United States
GR  - R01CA57605/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Cell
JT  - Cell
JID - 0413066
RN  - 0 (DNA, Complementary)
RN  - 0 (Drosophila Proteins)
RN  - 0 (Insect Hormones)
RN  - 0 (Membrane Proteins)
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (ptc protein, Drosophila)
SB  - IM
MH  - Alleles
MH  - Animals
MH  - Basal Cell Nevus Syndrome/*genetics
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 9
MH  - Cloning, Molecular
MH  - DNA, Complementary/genetics
MH  - Drosophila/genetics
MH  - *Drosophila Proteins
MH  - Exons/genetics
MH  - Female
MH  - Gene Deletion
MH  - Gene Expression
MH  - Genes, Tumor Suppressor/*genetics
MH  - Humans
MH  - In Vitro Techniques
MH  - Insect Hormones/*genetics
MH  - Introns/genetics
MH  - Membrane Proteins/*genetics
MH  - Molecular Sequence Data
MH  - Mutation/genetics
MH  - Pedigree
MH  - Receptors, Cell Surface
MH  - *Sequence Homology, Nucleic Acid
EDAT- 1996/06/14 00:00
MHDA- 1996/06/14 00:01
CRDT- 1996/06/14 00:00
PHST- 1996/06/14 00:00 [pubmed]
PHST- 1996/06/14 00:01 [medline]
PHST- 1996/06/14 00:00 [entrez]
AID - S0092-8674(00)81268-4 [pii]
AID - 10.1016/s0092-8674(00)81268-4 [doi]
PST - ppublish
SO  - Cell. 1996 Jun 14;85(6):841-51. doi: 10.1016/s0092-8674(00)81268-4.