Recombinant Human Protein patched homolog 1 (PTCH1), partial

1. Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability. PMID: 30181650
2. Combined heterozygous germline mutations in PTCH1 and PTCH2 were identified in a patient with embryonal rhabdomyosarcoma. PMID: 29230040
3. report a patient with a novel, isoform 1b specific mutation in PTCH1 and thereby distinguish PTCH1 isoform 1b as the major transcript in the development of Basal cell nevus syndrome. PMID: 29930296
4. Authors have established a locus-specific database for the PTCH1 gene using the Leiden Open Variation Database (LOVD). The database provides an open collection for both clinicians and researchers and is accessible online at http://www.lovd.nl/PTCH1. PMID: 29575684
5. this study reports the structures of human Ptch1 alone and in complex with the N-terminal domain of human Sonic hedgehog (ShhN) at resolutions of 3.9 and 3.6 angstroms, respectively, as determined by cryo-electron microscopy. PMID: 29954986
6. PVT1 epigenetically down-regulates PTCH1 expression via competitively binding miR-152, contributing to EMT process in liver fibrosis PMID: 27588491
7. Study identified a novel frameshift mutation in exon 9 of the PTCH1 gene in a nevoid basal cell carcinoma syndrome case with medulloblastoma and the affected father. This frameshift mutation causes premature stop codon and is responsible for the clinical features. PMID: 29544218
8. This is, to our knowledge, the first Gorlin syndrome-causing mutation that has been reported four independent times in distant geographical locations. Therefore, we propose the location of the described mutation as a potential hot spot for mutations in PTCH1. PMID: 29498494
9. Patients with missense variants in PTCH1 were diagnosed later and less likely to have developed at least 10 basal cell carcinomas and jaw cysts. Patients with identified PTCH1 variants were more likely to be diagnosed earlier, have developed jaw cysts and have bifid ribs or any skeletal abnormality. PMID: 28596197
10. The authors found 15 germline PTCH1 mutations, uniformly distributed across the PTCH1 gene among patients with Basaloid Follicular Hamartoma and Basal Cell Carcinoma. Therefore, Basaloid Follicular Hamartoma and Basal Cell Carcinoma may be the same genetic entity and not two distinctive syndromes. PMID: 29277811
11. This study indicates that germline PTCH1 heterozygous mutations play a major role in bone metabolism in patients with NBCCS, in particular in those with PTCH1 protein truncation mutations. SPARC may represent an important downstream modulator of PTCH1 mediation of bone metabolism. PMID: 26890308
12. Demonstrate altered cytoplasmic expression of Ptc1 and reduced number and length of primary cilia, where Ptc1 is located, in fibroblasts from Niemann-Pick type C patients. PMID: 28332184
13. Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene. PMID: 27561271
14. PTCH1 expression is a promising molecular marker for predicting the imatinib response in chronic myeloid leukemia patients in chronic phase. PMID: 28704552
15. the significant increase of blunt-ended, double-stranded DNA breaks, but not other types of DNA breaks, in normal cells from patients with RET/PTC-driven tumors suggests that blunt-ended double-stranded DNA breaks are a preferred substrate for rearrangement formation, and implicate involvement of the non-homologous end joining pathway in the formation of RET/PTC rearrangements. PMID: 28069693
16. Thus, our study clearly demonstrated the unique involvement of the two novel PTCH1 splice variants in HH signal transduction. PMID: 28390897
17. These data reveal an interaction between the cytoplasmic domains of Ptch1 and that these domains modulate Ptch1 activity but are not essential for regulation of the Hh pathway. PMID: 27325696
18. epigenetic silencing of PTCH is a mechanism contributing to chronic lymphocytic leukemia tumorigenesis PMID: 27630290
19. PTCH1 mutations contribute to as much as 10% of ODA, identify the SHH signaling pathway as a novel effector of SOX2 activity during human ocular development, and indicate that ODA is likely the result of overactive SHH signaling in humans harboring mutations in either PTCH1 or SOX2. PMID: 26893459
20. Naevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominantly inherited disorder with primary mutations in the Patched (PTCH1) gene PMID: 25600101
21. This is the first report describing a GS-associated ovarian tumor carrying a second hit in the PTCH1 region. PMID: 26782978
22. In Nigerian patients with ameloblastoma, moderate and strong expressions for PTCH in ameloblast and stellate reticulum were 78.6% and 60.7% respectively PMID: 27386018
23. suggest that CUL2-based E3 ligase complex may play a role in Shh- and Ptc1-dependent signaling pathways PMID: 26885983
24. Increased SHH, PTCH, and GLI1 protein correlated positively with tumor grade, tumor depth and lymph node metastasis in Peutz-Jeghers syndrome. PMID: 26997450
25. The results do not support our hypothesis that common germline genetic variants in the PTCH1 genes is associated with the risk of developing medulloblastoma. PMID: 26290144
26. after 20 years of the molecular and epidemiological research of RET/PTC in thyroid radiogenic carcinomas the comprehensive evidence of the dose-effect dependence existence indicating a real relationship between the studied parameters and radiation factor PMID: 27245001
27. A genome-wide association study of bone mineral density (BMD) found a new BMD locus that harbors the PTCH1 gene, that associates with reduced spine BMD and the RSPO3 associates with increased spine BMD. PMID: 26733130
28. The Cytoskeletal Protein Zyxin Interacts with the Hedgehog Receptor Patched PMID: 27125030
29. results indicate that whereas ciliary localization of Patched is essential for suppression of Smoothened activation, the primary event enabling Smoothened activation PMID: 26038600
30. Frequent inactivating PTCH1 mutations were found in oesophageal basaloid squamous cell carcinoma. These changes activate the Hedgehog pathway, which has been shown to cross-talk with the Wnt signalling pathway. PMID: 25395299
31. Melittin induces PTCH1 expression by down-regulating MeCP2 and blocking Shh signaling in human hepatocellular carcinoma cells. PMID: 26189965
32. PTCH1 expression is regulated by different 5' untranslated region cis-regulatory elements. PMID: 25826662
33. Data indicate microRNA-9 (miR-9) as the target of patched protein 1 (PTCH1) in resistant glioblastoma multiforme (GBM) cells with concomitant activation of sonic hedgehog SHH signaling. PMID: 25595896
34. Calcitriol represents a possible endogenous transmitter of Ptch/Smo interaction. PMID: 26126827
35. germline single base deletion of PTCH1 (c.2613 delC) is a first hit and the LOH of the wild-type allele is a second hit, implying that all 16 BCCs detected in these NBCCS sisters fit the standard two-hit model PMID: 24942795
36. results suggest that the PTCH1 gene plays a significant role in the pathogenesis of sporadic KCOTs, which is comparable to that observed in NBCCS patients PMID: 25458233
37. The expression of PTCH1 in 50 human cholangiocellular carcinoma, cholangiocarcinoma cell line, and vivo growing tumors was measured by quantitative PCR PMID: 24733827
38. High Ptch-1 expression is associated with lymph node metastasis in non-small cell lung cancers. PMID: 24710823
39. Results show that XIAP binds to the C terminus of Ptch1 and mediates the death-dependent function of Ptch1. PMID: 25292199
40. Ptc1-Gli1 signaling deregulation resulting in abnormal loss of glial precursor cells may contribute to a cognition decline in Alzheimer's disease brains. PMID: 25027328
41. our data suggests that activation of the Hedgehog pathway due to PTCH1 inactivation along with HPV infection is important in cervical cancer development. PMID: 25330948
42. Two altered PTCH1 transcripts were identified in patients with Gorlin syndrome PMID: 24659465
43. In this study we presented two cases with Gorlin syndrome. Molecular analysis of the patients showed two frameshift and one nonsense mutations in PTCH1 gene (two germline and one somatic), all of them novel. PMID: 25727044
44. Germline PTCH1 mutations are linked to nevoid basal cell carcinoma syndrome. PMID: 24517962
45. suggest childhood brain magnetic resonance imaging surveillance is justified in SUFU-related, but not PTCH1-related, Gorlin syndrome PMID: 25403219
46. our data suggest that the non-canonical Hh pathway mediated through ptch1 and cyclin B1 is involved in the pathogenesis of NBCCS-associated KCOTs. PMID: 24840883
47. Results found that PTCH1 is highly expressed in hepatocellular carcinoma tissues. PMID: 24805933
48. Serrated colorectal carcinoma as proposed to arise from serrated adenoma is characterized by down regulation of PTCH. PMID: 24612059
49. The C-terminal domain of PTCH1 interacts with and is ubiquitylated on K1413 by the E3 ubiquitin-protein ligase Itchy homolog Itch. PMID: 25092867
50. Authors report a loss-of-function mutation of PTCH1, a tumor suppressor in the Hh pathway, in a colorectal cancer that exhibits transcriptional upregulation of the downstream Hh gene GLI1. PMID: 24368541

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HGNC: 9585

OMIM: 109400

KEGG: hsa:5727

STRING: 9606.ENSP00000332353

UniGene: Hs.494538