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Showing results for lmna gene
Search for Lina Dėnė instead (3 results)
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.
Ito K, Patel PN, Gorham JM, McDonough B, DePalma SR, Adler EE, Lam L, MacRae CA, Mohiuddin SM, Fatkin D, Seidman CE, Seidman JG. Ito K, et al. Proc Natl Acad Sci U S A. 2017 Jul 18;114(29):7689-7694. doi: 10.1073/pnas.1707741114. Epub 2017 Jul 5. Proc Natl Acad Sci U S A. 2017. PMID: 28679633 Free PMC article.
Using this two-step procedure we evaluated all rare variants in two AD cardiomyopathy genes, lamin A/C (LMNA) and myosin binding protein C (MYBPC3). We demonstrate that 13 LMNA and 35 MYBPC3 variants identified in cardiomyopathy patients alter RNA splicing, r …
Using this two-step procedure we evaluated all rare variants in two AD cardiomyopathy genes, lamin A/C (LMNA) and myosin bindi …
Advances in lipodystrophy syndrome caused by LMNA gene mutation.
Xiao C, Liu JY, Yang CR, Yu M. Xiao C, et al. Yi Chuan. 2022 Oct 20;44(10):913-925. doi: 10.16288/j.yczz.22-225. Yi Chuan. 2022. PMID: 36384727 Review.
Lipodystrophy syndrome caused by LMNA gene mutation is a group of autosomal dominant monogenic diseases, characterized by selective fat loss and metabolic abnormalities with insulin resistance. In this review, we summarize the clinical manifestations caused by multi …
Lipodystrophy syndrome caused by LMNA gene mutation is a group of autosomal dominant monogenic diseases, characterized by sele …
LMNA Co-Regulated Gene Expression as a Suitable Readout after Precise Gene Correction.
Wang H, Krause A, Escobar H, Müthel S, Metzler E, Spuler S. Wang H, et al. Int J Mol Sci. 2022 Dec 8;23(24):15525. doi: 10.3390/ijms232415525. Int J Mol Sci. 2022. PMID: 36555163 Free PMC article.
Evaluating the functional recovery of LMNA after gene editing bears challenges as there is no reported direct loss of function of lamin A/C proteins in patient-derived cells. ...(Trp498Cys), using a short three-day, serum-induced differentiation protocol and analyze …
Evaluating the functional recovery of LMNA after gene editing bears challenges as there is no reported direct loss of function …
Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy.
Zahr HC, Jaalouk DE. Zahr HC, et al. Front Genet. 2018 Jul 9;9:231. doi: 10.3389/fgene.2018.00231. eCollection 2018. Front Genet. 2018. PMID: 30050558 Free PMC article. Review.
Mutations in the LMNA gene, which encodes for the nuclear lamina proteins lamins A and C, are responsible for a diverse group of diseases known as laminopathies. One type of laminopathy is Dilated Cardiomyopathy (DCM), a heart muscle disease characterized by dilatio …
Mutations in the LMNA gene, which encodes for the nuclear lamina proteins lamins A and C, are responsible for a diverse group …
Epigenetics in LMNA-Related Cardiomyopathy.
Wang Y, Dobreva G. Wang Y, et al. Cells. 2023 Mar 1;12(5):783. doi: 10.3390/cells12050783. Cells. 2023. PMID: 36899919 Free PMC article. Review.
Mutations in the gene for lamin A/C (LMNA) cause a diverse range of diseases known as laminopathies. ...This review will focus on the different cardiomyopathies caused by LMNA mutations, address the role of LMNA in chromatin organization and gene …
Mutations in the gene for lamin A/C (LMNA) cause a diverse range of diseases known as laminopathies. ...This review will focus …
From gene to mechanics: a comprehensive insight into the mechanobiology of LMNA mutations in cardiomyopathy.
Veltrop RJA, Kukk MM, Topouzidou K, Didden L, Muchir A, van Steenbeek FG, Schurgers LJ, Harakalova M. Veltrop RJA, et al. Cell Commun Signal. 2024 Mar 27;22(1):197. doi: 10.1186/s12964-024-01546-5. Cell Commun Signal. 2024. PMID: 38539233 Free PMC article. Review.
Exploring the intricate molecular landscape underlying this condition, with a specific focus on abnormal mechanotransduction, will propel our understanding of cardiolaminopathy. The LMNA gene undergoes alternative splicing to create A-type lamins, a part of the inte …
Exploring the intricate molecular landscape underlying this condition, with a specific focus on abnormal mechanotransduction, will propel ou …
Plain Language Summary of Publication of the safety and efficacy of ARRY-371797 in people with dilated cardiomyopathy and a faulty LMNA gene.
MacRae CA, Taylor MR, Mestroni L, Moses J, Ashley EA, Wheeler MT, Lakdawala NK, Hershberger RE, Sandor V, Saunders ME, Oliver C, Lee PA, Judge DP. MacRae CA, et al. Future Cardiol. 2023 Feb;19(2):55-63. doi: 10.2217/fca-2022-0099. Epub 2023 Jan 31. Future Cardiol. 2023. PMID: 36718638 Free article. Review.
This plain language summary describes the results of a study looking at the effects of a medicine called ARRY-371797 (also known as PF-07265803) in people with dilated cardiomyopathy (DCM for short) caused by a faulty LMNA gene. This condition is called LMNA- …
This plain language summary describes the results of a study looking at the effects of a medicine called ARRY-371797 (also known as PF-07265 …
Mutations in the LMNA gene encoding lamin A/C.
Genschel J, Schmidt HH. Genschel J, et al. Hum Mutat. 2000 Dec;16(6):451-9. doi: 10.1002/1098-1004(200012)16:6<451::AID-HUMU1>3.0.CO;2-9. Hum Mutat. 2000. PMID: 11102973 Review.
Very recently, mutations within the LMNA gene on chromosome 1q21.2 were shown to result in forms of muscular dystrophy, conduction-system disease, cardiomyopathy, and partial lipodystrophy. The LMNA gene encodes for the nucleophilic A-type lamins, lami …
Very recently, mutations within the LMNA gene on chromosome 1q21.2 were shown to result in forms of muscular dystrophy, conduc …
Hippocampal LMNA Gene Expression is Increased in Late-Stage Alzheimer's Disease.
Méndez-López I, Blanco-Luquin I, Sánchez-Ruiz de Gordoa J, Urdánoz-Casado A, Roldán M, Acha B, Echavarri C, Zelaya V, Jericó I, Mendioroz M. Méndez-López I, et al. Int J Mol Sci. 2019 Feb 18;20(4):878. doi: 10.3390/ijms20040878. Int J Mol Sci. 2019. PMID: 30781626 Free PMC article.
Here, we examined A-type and B-type lamin expression levels by RT-qPCR in Alzheimer's disease (AD) patients and controls in the hippocampus, the core of tau pathology in the brain. LMNA, LMNB1, and LMNB2 genes showed moderate mRNA levels in the human hippocampus wit …
Here, we examined A-type and B-type lamin expression levels by RT-qPCR in Alzheimer's disease (AD) patients and controls in the hippocampus, …
In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.
Koblan LW, Erdos MR, Wilson C, Cabral WA, Levy JM, Xiong ZM, Tavarez UL, Davison LM, Gete YG, Mao X, Newby GA, Doherty SP, Narisu N, Sheng Q, Krilow C, Lin CY, Gordon LB, Cao K, Collins FS, Brown JD, Liu DR. Koblan LW, et al. Nature. 2021 Jan;589(7843):608-614. doi: 10.1038/s41586-020-03086-7. Epub 2021 Jan 6. Nature. 2021. PMID: 33408413 Free PMC article.
Hutchinson-Gilford progeria syndrome (HGPS or progeria) is typically caused by a dominant-negative CG-to-TA mutation (c.1824 C>T; p.G608G) in LMNA, the gene that encodes nuclear lamin A. This mutation causes RNA mis-splicing that produces progerin, a toxic protei …
Hutchinson-Gilford progeria syndrome (HGPS or progeria) is typically caused by a dominant-negative CG-to-TA mutation (c.1824 C>T; p.G608G …
1,694 results