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    PTCH1 patched 1 [ Homo sapiens (human) ]

    Gene ID: 5727, updated on 17-Oct-2021

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    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.,

    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
    Mutation of the PTCH1 gene predicts recurrence of breast cancer.

    Mutation of the PTCH1 gene predicts recurrence of breast cancer.
    Wang CY, Chang YC, Kuo YL, Lee KT, Chen PS, Cheung CHA, Chang CP, Phan NN, Shen MR, Hsu HP., Free PMC Article

    11/21/2020
    [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].

    [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on <i>PTCH1</i>, <i>PTCH2</i>, <i>SHH</i>, <i>SMO</i> genes in Chinese case-parent trios].
    Li WY, Wang MY, Zhou R, Wang SY, Zheng HC, Zhu HP, Zhou ZB, Wu T, Wang H, Shi B., Free PMC Article

    10/24/2020
    Polydactyly Patient Carried a Mutation of PTCH1 Which Has Been Identified in Nevoid Basal Cell Nevus Syndrome.

    Polydactyly Patient Carried a Mutation of <i>PTCH1</i> Which Has Been Identified in Nevoid Basal Cell Nevus Syndrome.
    Cao R, Liu S, Chai W, Shen P.

    10/24/2020
    Hedgehog signaling in the airway epithelium of patients with chronic obstructive pulmonary disease.

    Hedgehog signaling in the airway epithelium of patients with chronic obstructive pulmonary disease.
    Tam A, Hughes M, McNagny KM, Obeidat M, Hackett TL, Leung JM, Shaipanich T, Dorscheid DR, Singhera GK, Yang CWT, Paré PD, Hogg JC, Nickle D, Sin DD., Free PMC Article

    10/24/2020
    PTCH1 Mutation in a Patient With Metastatic Undifferentiated Carcinoma With Clear Cell Change.

    PTCH1 Mutation in a Patient With Metastatic Undifferentiated Carcinoma With Clear Cell Change.
    Tsai KK, Khurana N, McCalmont T, Daud A, Bastian B, Yeh I.

    08/22/2020
    PTCH1 inactivating mutations occur in 93% of sporadic, keratocystic odontogenic tumors indicating that sonic hedgehog pathway alterations are a near-universal event in these benign but locally aggressive neoplasms.

    Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors.
    Stojanov IJ, Schaefer IM, Menon RS, Wasman J, Gokozan HN, Garcia EP, Baur DA, Woo SB, Sholl LM., Free PMC Article

    08/1/2020
    analysis of an interaction between PTCH1 inactivation and the development of plexiform fibromyxoma

    Loss of the PTCH1 tumor suppressor defines a new subset of plexiform fibromyxoma.
    Banerjee S, Corless CL, Miettinen MM, Noh S, Ustoy R, Davis JL, Tang CM, Yebra M, Burgoyne AM, Sicklick JK., Free PMC Article

    07/11/2020
    Results identified a 9q22.32q22.33 duplication involving the patched 1 protein (PTCH1) gene in a father-daughter couple with Schilbach-Rott syndrome (SRS).

    Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
    Prontera P, Rogaia D, Sallicandro E, Mencarelli A, Imperatore V, Squeo GM, Merla G, Elisei S, Moretti-Ferreira D, Esposito S, Stangoni G., Free PMC Article

    06/20/2020
    LINC-PINT targeted miR-425-5p by three sites. miR-425-5p also targeted PTCH1 a protein of the Hedgehog pathway. Downregulation of LINC-PINT was associated with increased cancer stemness and chemoresistance to cisplatin.

    Long noncoding RNA LINC-PINT regulates laryngeal carcinoma cell stemness and chemoresistance through miR-425-5p/PTCH1/SHH axis.
    Yuan Z, Xiu C, Liu D, Zhou G, Yang H, Pei R, Ding C, Cui X, Sun J, Song K.

    06/13/2020
    A Chinese NBCCS family of a novel PTCH1 heterozygous mutation.

    A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome.
    Zhou J, Zhang G, Shi M, Liu Z, Xiao M, Fu S, Gong X, Shi X.

    05/2/2020
    The annular sterols interact at multiple sites with both the sterol-sensing domain (SSD) and the SSD-like domain (SSDL), which are located on opposite sides of PTCH1. The structure reveals a possible route for sterol translocation across the lipid bilayer by PTCH1 and homologous transporters.

    Structural basis of sterol recognition by human hedgehog receptor PTCH1.
    Qi C, Di Minin G, Vercellino I, Wutz A, Korkhov VM., Free PMC Article

    05/2/2020
    Variants in hedgehog signaling pathway genes, such as GLI1 and PTCH1, and vitamin D receptor gene, might be considered as molecular risk factors in odontogenic cystic lesions

    Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions.
    Magic M, Zeljic K, Jovandic S, Stepic J, Pejovic M, Colic S, Magic Z, Supic G.

    01/4/2020
    These results indicate that besides PTCH1, other genes are responsible for Nevoid basal cell carcinoma syndrome and basal cell carcinoma development in a population exposed to high ultraviolet radiation.

    Nevoid Basal Cell Carcinoma Syndrome: <i>PTCH1</i> Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients.
    Martinez MF, Romano MV, Martinez AP, González A, Muchnik C, Stengel FM, Mazzuoccolo LD, Azurmendi PJ., Free PMC Article

    11/30/2019
    Results demonstrate that the patched 1 protein (PTCH1) rs10512248 and DNA repair and recombination protein RAD54B (RAD54B) rs12681366 were significantly associated with non-syndromic orofacial clefts (NSOC) in a Northern Chinese population.

    Association between PTCH1 and RAD54B single-nucleotide polymorphisms and non-syndromic orofacial clefts in a northern Chinese population.
    Liu X, Yang S, Meng L, Chen C, Hui X, Jiang Y, Jiao X, Lv K, Song T.

    09/21/2019
    SHH-Patched signal transduction is instrumental for development in Drosophila and for tumor cells communication in humans.

    Soluble Heparin and Heparan Sulfate Glycosaminoglycans Interfere with Sonic Hedgehog Solubilization and Receptor Binding.
    Manikowski D, Jakobs P, Jboor H, Grobe K., Free PMC Article

    08/24/2019
    Study reports the cryo-electron microscopy structure of tetrameric PTCH1 in complex with the palmitoylated N-terminal signaling domain of human Sonic hedgehog at a 4:2 stoichiometric ratio. The structure shows that four PTCH1 protomers are organized as a loose dimer of dimers.

    Inhibition of tetrameric Patched1 by Sonic Hedgehog through an asymmetric paradigm.
    Qian H, Cao P, Hu M, Gao S, Yan N, Gong X., Free PMC Article

    06/8/2019
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