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    CHD7 chromodomain helicase DNA binding protein 7 [ Homo sapiens (human) ]

    Gene ID: 55636, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.

    Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.
    Bai T, Shen Y, Yang Y, Dai S, Liu H.

    03/11/2024
    CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.

    CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.
    Gao J, Skidmore JM, Cimerman J, Ritter KE, Qiu J, Wilson LMQ, Raphael Y, Kwan KY, Martin DM.,

    02/29/2024
    A novel CHD7 variant in a chinese family with CHARGE syndrome.

    A novel CHD7 variant in a chinese family with CHARGE syndrome.
    Shan Y, Yao L, Li L, Gao X, Jiang J.

    02/22/2024
    Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

    Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
    Nomakuchi TT, Danowitz M, Stewart B, Leonard J, Izumi K, Krantz I, Kolon TF, Langdon D, Skraban C, Van Batavia J, Zackai E, Jiao K, Linn R, Alexander C, Zaontz M, Vogiatzi MG, Pyle LC., Free PMC Article

    04/12/2023
    The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.

    The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.
    Lewis MA, Juliano A, Robson C, Clement E, Nash R, Rajput K, D'Arco F.

    03/31/2023
    Chromatin remodeler CHD7 targets active enhancer region to regulate cell type-specific gene expression in human neural crest cells.

    Chromatin remodeler CHD7 targets active enhancer region to regulate cell type-specific gene expression in human neural crest cells.
    Sanosaka T, Okuno H, Mizota N, Andoh-Noda T, Sato M, Tomooka R, Banno S, Kohyama J, Okano H., Free PMC Article

    01/11/2023
    CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.

    CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.
    Nie J, Ueda Y, Solivais AJ, Hashino E., Free PMC Article

    11/26/2022
    [Analysis of CHD7 gene variants in 22 patients with idiopathic hypogonadotropic hypogonadism].

    [Analysis of CHD7 gene variants in 22 patients with idiopathic hypogonadotropic hypogonadism].
    Xie Y, Zheng R, Han B, Yuan H, Hu Z.

    07/16/2022
    [Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].

    [Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].
    Dong Y, Shi X, Du K, Shi Y, Wang J, Jia T, Zhang K, Xu R, Wang L.

    05/7/2022
    HERVH-derived lncRNAs negatively regulate chromatin targeting and remodeling mediated by CHD7.

    HERVH-derived lncRNAs negatively regulate chromatin targeting and remodeling mediated by CHD7.
    Hsieh FK, Ji F, Damle M, Sadreyev RI, Kingston RE., Free PMC Article

    04/2/2022
    Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.

    Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.
    Onesimo R, Ricci D, Agazzi C, Leone S, Petrianni M, Orazi L, Amore F, Salerni A, Leoni C, Chieffo D, Tartaglia M, Mercuri E, Zampino G., Free PMC Article

    02/5/2022
    Craniosynostosis is a feature of CHD7-related CHARGE syndrome.

    Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
    De Luca C, Picone S, Cassina M, Marziali S, Morlino S, Camerota L, Tamburrini G, Castori M, Paolillo P, Salviati L, Brancati F.

    01/1/2022
    Single gene variants causing deafness in Asian Indians.

    Single gene variants causing deafness in Asian Indians.
    Panigrahi I, Kumari D, Anil Kumar BN.

    10/2/2021
    An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development.

    An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development.
    Zhang R, He H, Yuan B, Wu Z, Wang X, Du Y, Chen Y, Qiu Z., Free PMC Article

    09/11/2021
    Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

    Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
    Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS, Undiagnosed Diseases Network., Free PMC Article

    07/10/2021
    Genetic Variants of CHD7 Are Associated with Adolescent Idiopathic Scoliosis.

    Genetic Variants of CHD7 Are Associated with Adolescent Idiopathic Scoliosis.
    Wu Z, Dai Z, Yuwen W, Liu Z, Qiu Y, Cheng JC, Zhu Z, Xu L.

    07/3/2021
    CHD7 missense variants and clinical characteristics of Chinese males with infertility.

    CHD7 missense variants and clinical characteristics of Chinese males with infertility.
    Li L, Wang R, Yu Y, Zhang H, Jiang Y, Yang X, Liu R., Free PMC Article

    05/29/2021
    Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.

    Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
    Li JD, Wu J, Zhao Y, Wang X, Jiang F, Hou Q, Chen DN, Zheng R, Yu R, Zhou W, Men M.

    02/13/2021
    LINC01410/miR-23c/CHD7 functions as a ceRNA network to affect the prognosis of patients with endometrial cancer and strengthen the malignant properties of endometrial cancer cells.

    LINC01410/miR-23c/CHD7 functions as a ceRNA network to affect the prognosis of patients with endometrial cancer and strengthen the malignant properties of endometrial cancer cells.
    Lu M, Ding N, Zhuang S, Li Y.

    01/16/2021
    Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.

    Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.
    Meisner JK, Martin DM., Free PMC Article

    01/9/2021
    CHARGE syndrome in nine patients from China.

    CHARGE syndrome in nine patients from China.
    Cheng SSW, Luk HM, Chan DKH, Lo IFM.

    01/2/2021
    CHD7 and 53BP1 regulate distinct pathways for the re-ligation of DNA double-strand breaks.

    CHD7 and 53BP1 regulate distinct pathways for the re-ligation of DNA double-strand breaks.
    Rother MB, Pellegrino S, Smith R, Gatti M, Meisenberg C, Wiegant WW, Luijsterburg MS, Imhof R, Downs JA, Vertegaal ACO, Huet S, Altmeyer M, van Attikum H., Free PMC Article

    11/28/2020
    CHD7 gene polymorphisms in female patients with idiopathic scoliosis.

    CHD7 gene polymorphisms in female patients with idiopathic scoliosis.
    Borysiak K, Janusz P, Andrusiewicz M, Chmielewska M, Kozinoga M, Kotwicki T, Kotwicka M., Free PMC Article

    11/21/2020
    CHD7 promotes glioblastoma cell motility and invasiveness through transcriptional modulation of an invasion signature.

    CHD7 promotes glioblastoma cell motility and invasiveness through transcriptional modulation of an invasion signature.
    Machado RAC, Schneider H, DeOcesano-Pereira C, Lichtenstein F, Andrade F, Fujita A, Trombetta-Lima M, Weller M, Bowman-Colin C, Sogayar MC., Free PMC Article

    09/26/2020
    High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.

    High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.
    Gonçalves CI, Patriarca FM, Aragüés JM, Carvalho D, Fonseca F, Martins S, Marques O, Pereira BD, Martinez-de-Oliveira J, Lemos MC., Free PMC Article

    08/29/2020
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