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

    Gene ID: 4000, updated on 11-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    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.,

    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.,

    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
    Enhanced Expression of a Novel Lamin A/C Splice Variant in Idiopathic Pulmonary Fibrosis Lung.

    Enhanced Expression of a Novel Lamin A/C Splice Variant in Idiopathic Pulmonary Fibrosis Lung.
    Yin Q, Morris GF, Saito S, Zhuang Y, Thannickal VJ, Jazwinski SM, Lasky JA., Free PMC Article

    06/13/2023
    Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.

    Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.
    Chatzifrangkeskou M, Le Dour C, Muchir A.

    05/30/2023
    LMNA Mutations and Right Heart Failure in Patients With Cardiomyopathy and With Left Ventricular Assist Devices.

    LMNA Mutations and Right Heart Failure in Patients With Cardiomyopathy and With Left Ventricular Assist Devices.
    Yamada T, Nomura S, Amiya E, Katoh M, Inoue S, Hatsuse S, Fujita K, Ito M, Fujita T, Bujo C, Tsuji M, Ishida J, Ko T, Yamada S, Katagiri M, Sassa T, Kinoshita O, Nawata K, Tobita T, Satoh M, Ishiwata J, Daimon M, Tatsuno K, Fukuda S, Kashimura T, Minamino T, Hatano M, Ono M, Aburatani H, Komuro I.

    05/24/2023
    TEAD1 trapping by the Q353R-Lamin A/C causes dilated cardiomyopathy.

    TEAD1 trapping by the Q353R-Lamin A/C causes dilated cardiomyopathy.
    Yamada S, Ko T, Ito M, Sassa T, Nomura S, Okuma H, Sato M, Imasaki T, Kikkawa S, Zhang B, Yamada T, Seki Y, Fujita K, Katoh M, Kubota M, Hatsuse S, Katagiri M, Hayashi H, Hamano M, Takeda N, Morita H, Takada S, Toyoda M, Uchiyama M, Ikeuchi M, Toyooka K, Umezawa A, Yamanishi Y, Nitta R, Aburatani H, Komuro I., Free PMC Article

    04/19/2023
    A novel deletion mutation accompanied by a point mutation in Lamin A/C gene: Screened from a dilated cardiomyopathy family.

    A novel deletion mutation accompanied by a point mutation in Lamin A/C gene: Screened from a dilated cardiomyopathy family.
    Jia H, Sun Y, Yao W, Chen Z, Yang S, Wang C, Lu S.

    04/14/2023
    Epigenetics in LMNA-Related Cardiomyopathy.

    Epigenetics in LMNA-Related Cardiomyopathy.
    Wang Y, Dobreva G., Free PMC Article

    03/14/2023
    Elevated Levels of Lamin A Promote HR and NHEJ-Mediated Repair Mechanisms in High-Grade Ovarian Serous Carcinoma Cell Line.

    Elevated Levels of Lamin A Promote HR and NHEJ-Mediated Repair Mechanisms in High-Grade Ovarian Serous Carcinoma Cell Line.
    Sengupta D, Mukhopadhyay A, Sengupta K., Free PMC Article

    03/14/2023
    LMNA Reduced Acquired Resistance to Erlotinib in NSCLC by Reversing the Epithelial-Mesenchymal Transition via the FGFR/MAPK/c-fos Signaling Pathway.

    LMNA Reduced Acquired Resistance to Erlotinib in NSCLC by Reversing the Epithelial-Mesenchymal Transition via the FGFR/MAPK/c-fos Signaling Pathway.
    Hu C, Zhou A, Hu X, Xiang Y, Huang M, Huang J, Yang D, Tang Y., Free PMC Article

    11/26/2022
    The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor-Guillermo progeria syndrome cells.

    The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor-Guillermo progeria syndrome cells.
    Janssen A, Marcelot A, Breusegem S, Legrand P, Zinn-Justin S, Larrieu D., Free PMC Article

    11/19/2022
    A rare human centenarian variant of SIRT6 enhances genome stability and interaction with Lamin A.

    A rare human centenarian variant of SIRT6 enhances genome stability and interaction with Lamin A.
    Simon M, Yang J, Gigas J, Earley EJ, Hillpot E, Zhang L, Zagorulya M, Tombline G, Gilbert M, Yuen SL, Pope A, Van Meter M, Emmrich S, Firsanov D, Athreya A, Biashad SA, Han J, Ryu S, Tare A, Zhu Y, Hudgins A, Atzmon G, Barzilai N, Wolfe A, Moody K, Garcia BA, Thomas DD, Robbins PD, Vijg J, Seluanov A, Suh Y, Gorbunova V., Free PMC Article

    11/5/2022
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