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 |