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    PTCH1 patched 1 [ Homo sapiens (human) ]

    Gene ID: 5727, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis.

    PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis.
    van Essen MJ, Apsley EJ, Riepsaame J, Xu R, Northcott PA, Cowley SA, Jacob J, Becker EBE., Free PMC Article

    02/28/2024
    PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico.

    PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico.
    Zambrano-Román M, Padilla-Gutiérrez JR, Valle Y, Muñoz-Valle JF, Guevara-Gutiérrez E, Martínez-Fernández DE, Valdés-Alvarado E., Free PMC Article

    02/23/2024
    Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome.

    Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome.
    Peng X, Chen M, Wang D, Han R, Gao T, Liu L, Liu C, Zhang K., Free PMC Article

    06/9/2023
    Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China.

    Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China.
    Ruan W, Chi D, Wang Y, Ma J, Huang Y.

    03/23/2023
    New insight into the role of PTCH1 protein in serous ovarian carcinomas.

    New insight into the role of PTCH1 protein in serous ovarian carcinomas.
    Karin-Kujundzic V, Covarrubias-Pinto A, Skrtic A, Vranic S, Serman L., Free PMC Article

    10/15/2022
    Orthokeratinized odontogenic cysts: A clinicopathologic study of 159 cases and molecular evidence for the absence of PTCH1 mutations.

    Orthokeratinized odontogenic cysts: A clinicopathologic study of 159 cases and molecular evidence for the absence of PTCH1 mutations.
    Wang YJ, Zhang JY, Dong Q, Li TJ.

    08/27/2022
    Impaired Wnt/beta-catenin and protein patched homolog 1 signaling in extraocular sebaceous carcinoma: A clinical and histopathological study.

    Impaired Wnt/beta-catenin and protein patched homolog 1 signaling in extraocular sebaceous carcinoma: A clinical and histopathological study.
    Cheng AY, Lan J, Lee CH.

    06/11/2022
    Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy.

    Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy.
    Dasgeb B, Pajouhanfar S, Jazayeri A, Schoenberg E, Kumar G, Fortina P, Berger AC, Uitto J.

    05/14/2022
    Differential promoter usages of PTCH1 and down regulation of HHIP are associated with HNSCC progression.

    Differential promoter usages of PTCH1 and down regulation of HHIP are associated with HNSCC progression.
    Chakraborty B, Basu M, Mukhopadhyay D, Alam N, Ghosh S, Dutta S, Panda CK.

    04/16/2022
    Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers.

    Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers.
    Yang XH, Xu BH, Zhou DL, Long YK, Liu Q, Huang C, Ye ZL, He CY.

    02/12/2022
    Patched 1 reduces the accessibility of cholesterol in the outer leaflet of membranes.

    Patched 1 reduces the accessibility of cholesterol in the outer leaflet of membranes.
    Kinnebrew M, Luchetti G, Sircar R, Frigui S, Viti LV, Naito T, Beckert F, Saheki Y, Siebold C, Radhakrishnan A, Rohatgi R., Free PMC Article

    01/29/2022
    Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.

    Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
    Ewing AD, Cheetham SW, McGill JJ, Sharkey M, Walker R, West JA, West MJ, Summers KM., Free PMC Article

    01/8/2022
    Keratinocytes from Gorlin Syndrome-induced pluripotent stem cells are resistant against UV radiation.

    Keratinocytes from Gorlin Syndrome-induced pluripotent stem cells are resistant against UV radiation.
    Morita N, Onodera S, Nakamura Y, Nakamura T, Takahashi SI, Nomura T, Azuma T.

    12/18/2021
    New insights into the GDF9-Hedgehog-GLI signaling pathway in human ovaries: from fetus to postmenopause.

    New insights into the GDF9-Hedgehog-GLI signaling pathway in human ovaries: from fetus to postmenopause.
    Asiabi P, David C, Camboni A, Marbaix E, Dolmans MM, Amorim CA., Free PMC Article

    12/11/2021
    The role of sonic hedgehog homologue signal pathway in hypospadias aetiology.

    The role of sonic hedgehog homologue signal pathway in hypospadias aetiology.
    Saraç M, Canpolat Ş, Önalan Etem E, Tektemur A, Tartar T, Bakal U, Kazez A.

    12/4/2021
    Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.

    Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.
    Gershanov S, Toledano H, Pernicone N, Fichman S, Michowiz S, Pinhasov A, Goldenberg-Cohen N, Listovsky T, Salmon-Divon M., Free PMC Article

    12/4/2021
    Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.

    Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
    Barraud S, Delemer B, Poirsier-Violle C, Bouligand J, Mérol JC, Grange F, Higel-Chaufour B, Decoudier B, Zalzali M, Dwyer AA, Acierno JS, Pitteloud N, Millar RP, Young J.

    10/9/2021
    Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation.

    Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation.
    Verkouteren BJA, Cosgun B, Vermeulen RJ, Reinders MGHC, van Geel M, Gille JJP, Mosterd K., Free PMC Article

    08/28/2021
    Patched 1 expression in Merkel cell carcinoma.

    Patched 1 expression in Merkel cell carcinoma.
    Gambichler T, Dreißigacker M, Kasakovski D, Skrygan M, Wieland U, Silling S, Gravemeyer J, Melior A, Cherouny A, Stücker M, Stockfleth E, Sand M, Becker JC.

    08/21/2021
    PTCH1 regulates anchorage-independent growth and bone invasion of non-small cell lung cancer cells.

    PTCH1 regulates anchorage-independent growth and bone invasion of non-small cell lung cancer cells.
    Choi JY, Lee YS, Shim DM, Seo SW.

    07/24/2021
    Association between PTCH1 gene polymorphisms and chronic obstructive pulmonary disease susceptibility in a Chinese Han population: a case-control study.

    Association between PTCH1 gene polymorphisms and chronic obstructive pulmonary disease susceptibility in a Chinese Han population: a case-control study.
    Kang X, Guo T, Liu L, Ding SZ, Lei C, Luo H., Free PMC Article

    06/19/2021
    Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review.

    Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review.
    Szczałuba K, Makuła E, Piórecka-Makuła A, Sicińska J, Rydzanicz M, Gasperowicz P, Płoski R, Werner B., Free PMC Article

    06/12/2021
    Circular RNA circCCT3 promotes hepatocellular carcinoma progression by regulating the miR12875p/TEAD1/PTCH1/LOX axis.

    Circular RNA circ‑CCT3 promotes hepatocellular carcinoma progression by regulating the miR‑1287‑5p/TEAD1/PTCH1/LOX axis.
    Lin W, Zhang T, Ding G, Hao L, Zhang B, Yu J, Pang Y, Geng F, Zhan L, Zhou M, Yan Q, Wang Y, Zheng C, Li H., Free PMC Article

    05/8/2021
    Novel PTCH1 mutation in Gorlin-Goltz syndrome potentially altered interactions with lipid bilayer.

    Novel PTCH1 mutation in Gorlin-Goltz syndrome potentially altered interactions with lipid bilayer.
    Gao Q, Xu N, Yang C, Yang K, Bian Z.

    04/24/2021
    Cholesterol access in cellular membranes controls Hedgehog signaling.

    Cholesterol access in cellular membranes controls Hedgehog signaling.
    Radhakrishnan A, Rohatgi R, Siebold C., Free PMC Article

    01/23/2021
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