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    LMNA lamin A/C [ Homo sapiens (human) ]

    Gene ID: 4000, updated on 29-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Advances in research on the relationship between the LMNA gene and human diseases (Review).

    Advances in research on the relationship between the LMNA gene and human diseases (Review).
    Zhao J, Zhang H, Pan C, He Q, Zheng K, Tang Y., Free PMC Article

    10/28/2024
    Global Proteomic Analysis Reveals Alterations in Differentially Expressed Proteins between Cardiopathic Lamin A/C Mutations.

    Global Proteomic Analysis Reveals Alterations in Differentially Expressed Proteins between Cardiopathic Lamin A/C Mutations.
    Anderson CL, Brown KA, North RJ, Walters JK, Kaska ST, Wolff MR, Kamp TJ, Ge Y, Eckhardt LL., Free PMC Article

    10/28/2024
    Loss of Lamin A leads to the nuclear translocation of AGO2 and compromised RNA interference.

    Loss of Lamin A leads to the nuclear translocation of AGO2 and compromised RNA interference.
    Lobo V, Nowak I, Fernandez C, Correa Muler AI, Westholm JO, Huang HC, Fabrik I, Huynh HT, Shcherbinina E, Poyraz M, Härtlova A, Benhalevy D, Angeletti D, Sarshad AA., Free PMC Article

    10/9/2024
    Nuclear lamin A/C phosphorylation by loss of androgen receptor leads to cancer-associated fibroblast activation.

    Nuclear lamin A/C phosphorylation by loss of androgen receptor leads to cancer-associated fibroblast activation.
    Ghosh S, Isma J, Ostano P, Mazzeo L, Toniolo A, Das M, White JR, Simon C, Paolo Dotto G., Free PMC Article

    09/13/2024
    Genetic and pharmacological modulation of lamin A farnesylation determines its function and turnover.

    Genetic and pharmacological modulation of lamin A farnesylation determines its function and turnover.
    Foo MXR, Ong PF, Yap ZX, Maric M, Bong CJS, Dröge P, Burke B, Dreesen O., Free PMC Article

    09/3/2024
    DNA methylation of the Lamin A/C gene is associated with congenital heart disease.

    DNA methylation of the Lamin A/C gene is associated with congenital heart disease.
    Mukherjee N, Bolin EH, Qasim A, Orloff MS, Lupo PJ, Nembhard WN.

    07/31/2024
    Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

    Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.
    Martínez Olorón P, Alegría I, Cesar S, Del Olmo B, Martínez-Barrios E, Carrera-García L, Natera-de Benito D, Nascimento A, Campuzano O, Sarquella-Brugada G., Free PMC Article

    07/3/2024
    Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.

    Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.
    Morguetti MJ, Neves PDMM, Korkes I, Padilha WSC, Jorge LB, Watanabe A, Watanabe EH, Malheiros DMAC, Noronha IL, Dib SA, Onuchic LF, Moisés RS., Free PMC Article

    06/12/2024
    Acquired NF2 mutation confers resistance to TRK inhibition in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model.

    Acquired NF2 mutation confers resistance to TRK inhibition in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model.
    Chen Y, Steiner S, Hagedorn C, Kollar S, Pliego-Mendieta A, Haberecker M, Plock J, Britschgi C, Planas-Paz L, Pauli C.

    06/5/2024
    Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.

    Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.
    Storey EC, Holt I, Brown S, Synowsky S, Shirran S, Fuller HR.

    05/6/2024
    Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

    Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.
    Besci O, Foss de Freitas MC, Guidorizzi NR, Guler MC, Gilio D, Maung JN, Schill RL, Hoose KS, Obua BN, Gomes AD, Yıldırım Şimşir I, Demir K, Akinci B, MacDougald OA, Oral EA., Free PMC Article

    02/22/2024
    Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.

    Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.
    Wilke MVMB, Wick M, Schwab TL, Starosta RT, Clark KJ, Connolly HM, Klee EW., Free PMC Article

    01/31/2024
    Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.

    Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.
    Mahdavi M, Mohsen-Pour N, Maleki M, Ghasemi S, Tabib A, Houshmand G, Naderi N, Masoumi T, Pouraliakbar H, Kalayinia S.

    01/8/2024
    Prelamin A and ZMPSTE24 in premature and physiological aging.

    Prelamin A and ZMPSTE24 in premature and physiological aging.
    Worman HJ, Michaelis S., Free PMC Article

    11/16/2023
    DNA damage induces nuclear envelope rupture through ATR-mediated phosphorylation of lamin A/C.

    DNA damage induces nuclear envelope rupture through ATR-mediated phosphorylation of lamin A/C.
    Kovacs MT, Vallette M, Wiertsema P, Dingli F, Loew D, Nader GPF, Piel M, Ceccaldi R., Free PMC Article

    10/28/2023
    Knockdown of LMNA inhibits Akt/beta-catenin-mediated cell invasion and migration in clear cell renal cell carcinoma cells.

    Knockdown of LMNA inhibits Akt/β-catenin-mediated cell invasion and migration in clear cell renal cell carcinoma cells.
    Xin H, Tang Y, Jin YH, Li HL, Tian Y, Yu C, Zhao ZJ, Wu MS, Pan YF., Free PMC Article

    10/4/2023
    An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.

    An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.
    Chang L, Huang R, Chen J, Li G, Shi G, Xu B, Wang L., Free PMC Article

    10/4/2023
    Somatic and germinal mosaicism in a Han Chinese family with laminopathies.

    Somatic and germinal mosaicism in a Han Chinese family with laminopathies.
    Wang G, Hou Y, Lv X, Yan C, Lin P., Free PMC Article

    09/19/2023
    The Clinical Characteristics and Potential Molecular Mechanism of LMNA Mutation-Related Lipodystrophy.

    The Clinical Characteristics and Potential Molecular Mechanism of LMNA Mutation-Related Lipodystrophy.
    Xiao C, Liu J, Yang C, Zhai X, Liu P, Xiao X, Yu M.

    09/18/2023
    A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.

    A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
    Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A.

    08/25/2023
    Lamin A/C and Vimentin as a Coordinated Regulator during Amoeboid Migration in Microscale Confined Microenvironments.

    Lamin A/C and Vimentin as a Coordinated Regulator during Amoeboid Migration in Microscale Confined Microenvironments.
    Wang YJ, Liang H, Liu Y, Bao Q, Yang S, Xu XX, Chen YC, Liu W, Shi X, Shi Y, Liu X, Liu B, Gao H, Jiu Y, Liu YJ.

    08/3/2023
    Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.

    Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.
    Lian H, Song S, Chen W, Shi A, Jiang H, Hu S., Free PMC Article

    07/25/2023
    Long-term effectiveness of ARRY-371797 in people with dilated cardiomyopathy and a faulty LMNA gene: a plain language summary.

    Long-term effectiveness of ARRY-371797 in people with dilated cardiomyopathy and a faulty LMNA gene: a plain language summary.
    Judge DP, Taylor MR, Li H, Oliver C, Angeli FS, Lee PA, MacRae CA.

    07/7/2023
    Differential Gene Expression Signatures and Cellular Signaling Pathways induced by Lamin A/C Transcript Variants in MCF7 Cell Line.

    Differential Gene Expression Signatures and Cellular Signaling Pathways induced by Lamin A/C Transcript Variants in MCF7 Cell Line.
    Batha L, Aziz MA, Zhra M, Holail J, Al-Qahtani WS, Fakhoury R, Aljada A.

    07/6/2023
    Decreased lamin A and B1 expression results in nuclear enlargement in serous ovarian carcinoma, whereas lamin A-expressing tumor cells metastasize to lymph nodes.

    Decreased lamin A and B1 expression results in nuclear enlargement in serous ovarian carcinoma, whereas lamin A-expressing tumor cells metastasize to lymph nodes.
    Ouchi M, Kobayashi S, Nishijima Y, Inoue N, Ikota H, Iwase A, Yokoo H, Saio M.

    06/21/2023
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