PTCH1

PTCH1

Patched homolog 1 (Drosophila), also known as PTCH1, is a human gene.cite web | title = Entrez Gene: PTCH1 patched homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5727| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor. Mutations of this gene have been associated with nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.cite web | title = Entrez Gene: PTCH1 patched homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5727| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Villavicencio EH, Walterhouse DO, Iannaccone PM |title=The sonic hedgehog-patched-gli pathway in human development and disease. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1047–54 |year= 2000 |pmid= 11001584 |doi=
*cite journal | author=Corcoran RB, Scott MP |title=A mouse model for medulloblastoma and basal cell nevus syndrome. |journal=J. Neurooncol. |volume=53 |issue= 3 |pages= 307–18 |year= 2002 |pmid= 11718263 |doi=
*cite journal | author=Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG |title=PTCH mutations: distribution and analyses. |journal=Hum. Mutat. |volume=27 |issue= 3 |pages= 215–9 |year= 2006 |pmid= 16419085 |doi= 10.1002/humu.20296
*cite journal | author=Gailani MR, Bale SJ, Leffell DJ, "et al." |title=Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. |journal=Cell |volume=69 |issue= 1 |pages= 111–7 |year= 1992 |pmid= 1348213 |doi=
*cite journal | author=Hahn H, Christiansen J, Wicking C, "et al." |title=A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. |journal=J. Biol. Chem. |volume=271 |issue= 21 |pages= 12125–8 |year= 1996 |pmid= 8647801 |doi=
*cite journal | author=Johnson RL, Rothman AL, Xie J, "et al." |title=Human homolog of patched, a candidate gene for the basal cell nevus syndrome. |journal=Science |volume=272 |issue= 5268 |pages= 1668–71 |year= 1996 |pmid= 8658145 |doi=
*cite journal | author=Hahn H, Wicking C, Zaphiropoulous PG, "et al." |title=Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. |journal=Cell |volume=85 |issue= 6 |pages= 841–51 |year= 1996 |pmid= 8681379 |doi=
*cite journal | author=Gailani MR, Ståhle-Bäckdahl M, Leffell DJ, "et al." |title=The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. |journal=Nat. Genet. |volume=14 |issue= 1 |pages= 78–81 |year= 1996 |pmid= 8782823 |doi= 10.1038/ng0996-78
*cite journal | author=Chidambaram A, Goldstein AM, Gailani MR, "et al." |title=Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. |journal=Cancer Res. |volume=56 |issue= 20 |pages= 4599–601 |year= 1996 |pmid= 8840969 |doi=
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Stone DM, Hynes M, Armanini M, "et al." |title=The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. |journal=Nature |volume=384 |issue= 6605 |pages= 129–34 |year= 1996 |pmid= 8906787 |doi= 10.1038/384129a0
*cite journal | author=Wicking C, Shanley S, Smyth I, "et al." |title=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. |journal=Am. J. Hum. Genet. |volume=60 |issue= 1 |pages= 21–6 |year= 1997 |pmid= 8981943 |doi=
*cite journal | author=Lench NJ, Telford EA, High AS, "et al." |title=Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome. |journal=Hum. Genet. |volume=100 |issue= 5-6 |pages= 497–502 |year= 1997 |pmid= 9341860 |doi=
*cite journal | author=Aszterbaum M, Rothman A, Johnson RL, "et al." |title=Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. |journal=J. Invest. Dermatol. |volume=110 |issue= 6 |pages= 885–8 |year= 1998 |pmid= 9620294 |doi= 10.1046/j.1523-1747.1998.00222.x
*cite journal | author=Carpenter D, Stone DM, Brush J, "et al." |title=Characterization of two patched receptors for the vertebrate hedgehog protein family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 23 |pages= 13630–4 |year= 1998 |pmid= 9811851 |doi=
*cite journal | author=Liu JH, Wei S, Burnette PK, "et al." |title=Functional association of TGF-beta receptor II with cyclin B. |journal=Oncogene |volume=18 |issue= 1 |pages= 269–75 |year= 1999 |pmid= 9926943 |doi= 10.1038/sj.onc.1202263
*cite journal | author=Hasenpusch-Theil K, Bataille V, Laehdetie J, "et al." |title=Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online. |journal=Hum. Mutat. |volume=11 |issue= 6 |pages= 480 |year= 1999 |pmid= 10200051 |doi= 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4 |doilabel=10.1002/(SICI)1098-1004(1998)11:6480::AID-HUMU93.0.CO;2-4
*cite journal | author=Dong J, Gailani MR, Pomeroy SL, "et al." |title=Identification of PATCHED mutations in medulloblastomas by direct sequencing. |journal=Hum. Mutat. |volume=16 |issue= 1 |pages= 89–90 |year= 2000 |pmid= 10874314 |doi= 10.1002/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7 |doilabel=10.1002/1098-1004(200007)16:189::AID-HUMU183.0.CO;2-7
*cite journal | author=Reifenberger J, Arnold N, Kiechle M, "et al." |title=Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. |journal=J. Invest. Dermatol. |volume=116 |issue= 3 |pages= 472–4 |year= 2001 |pmid= 11231326 |doi= 10.1046/j.1523-1747.2001.01279-2.x

PBB_Controls
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