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See all on WikipediaPrelamin-A/C - Wikipedia
Prelamin-A/C, or lamin A/C is a protein that in humans is encoded by the LMNA gene. Lamin A/C belongs to the lamin family of proteins. In the setting of ZMPSTE24 deficiency, the final step of lamin processing does not occur, resulting in an accumulation of farnesyl-prelamin A. In Hutchinson–Gilford … See more
Mutations in the LMNA gene are associated with several diseases, including Emery–Dreifuss muscular dystrophy See more
DNA double-strand damages can be repaired by either homologous recombination (HR) or non-homologous end joining (NHEJ). LMNA promotes genetic stability by … See more
• Gruenbaum Y, Wilson KL, Harel A, Goldberg M, Cohen M (2000). "Review: nuclear lamins--structural proteins with fundamental … See more
• Online Mendelian Inheritance in Man (OMIM): Cardiomyopathy, Dilated, 1A; CMD1A - 115200
• Online Mendelian Inheritance in Man (OMIM): LAMIN A/C; LMNA - 150330
• LMNA+protein,+human at the U.S. National Library of … See moreWikipedia text under CC-BY-SA license LMNA-related congenital muscular dystrophy - Wikipedia
Lamin A/C congenital muscular dystrophy (CMD) (L-CMD, congenital muscular dystrophy associated to the LMNA gene or Emery-Dreifuss muscular dystrophy II) is a disease that it is included in laminopathies. Laminopathies are caused, among other mutations, to mutations in LMNA, a gene that synthesizes lamins A and C.
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Laminopathy - Wikipedia
Laminopathies (lamino- + -pathy) are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Since the first reports of laminopathies in the …
LMNA-Related Dilated Cardiomyopathy
Jun 12, 2008 · LMNA-related dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and/or reduced systolic function preceded (sometimes by many years) by or accompanied by conduction system disease and/or …
LMNA gene - MedlinePlus
The LMNA gene provides instructions for making several slightly different proteins called lamins. The two major proteins produced from this gene, lamin A and lamin C, are made in most of the …
LMNA-related congenital muscular dystrophy - MedlinePlus
LMNA -related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). Explore symptoms, inheritance, genetics of …
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LMNA Gene - GeneCards | LMNA Protein | LMNA Antibody
Oct 2, 2024 · LMNA (Lamin A/C) is a Protein Coding gene. Diseases associated with LMNA include Hutchinson-Gilford Progeria Syndrome and Emery-Dreifuss Muscular Dystrophy 2, …
Updated clinical overview on cardiac laminopathies: an electrical …
Cardiac laminopathies, associated with mutations in the LMNA gene, encompass a wide spectrum of clinical manifestations, involving electrical and mechanical alterations of cardiomyocytes. …
Human laminopathies: nuclei gone genetically awry - Nature
Dec 1, 2006 · Abstract. Few genes have generated as much recent interest as LMNA, LMNB1 and LMNB2, which encode the components of the nuclear lamina. Over 180 mutations in these …
The Broad Spectrum of LMNA Cardiac Diseases: From Molecular …
Mutations of Lamin A/C gene (LMNA) cause laminopathies, a group of disorders associated with a wide spectrum of clinically distinct phenotypes, affecting different tissues and organs.
LMNA-related muscular dystrophy: Identification of variants in ...
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in …
Orphanet: Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy due to LMNA mutation. A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in …
Lamin A/C-Related Cardiac Disease - AHA/ASA Journals
Aug 8, 2017 · Although genetically heterozygous, LMNA is one of the most frequent genes found to be mutated in dilated cardiomyopathy. LMNA -related cardiac disease is associated with a …
LMNA - Wikipedia
From a page move: This is a redirect from a page that has been moved (renamed).This page was kept as a redirect to avoid breaking links, both internal and external, that may have been made …
Lamin A/C Cardiomyopathy | Circulation: Cardiovascular Genetics
Dec 13, 2017 · As a component of the inner nuclear lamina, LMNA regulates nuclear function and chromatin structure through multiple molecular pathways, and, accordingly, LMNA …
Identification of Genes and Pathways Regulated by Lamin A in Heart
Aug 1, 2020 · Mutations in the LMNA gene, encoding LMNA (lamin A/C), causes distinct disorders, including dilated cardiomyopathies, collectively referred to as laminopathies. The …
Lamin A/C cardiomyopathy: young onset, high penetrance, and …
Oct 31, 2017 · Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with autosomal dominant inheritance and variable expressivity of symptoms, 1 such as early-onset …
LMNA - an overview | ScienceDirect Topics
LMNA. In subject area: Biochemistry, Genetics and Molecular Biology. LMNA-linked laminopathies are a group of rare human diseases caused by mutations in LMNA or by …
Frontiers | The Broad Spectrum of LMNA Cardiac Diseases: …
Jul 2, 2020 · Mutations of Lamin A/C gene (LMNA) cause laminopathies, a group of disorders associated with a wide spectrum of clinically distinct phenotypes, affecting different tissues and …
LMNA - Wikipedia
lmna遺伝子は選択的スプライシングが行われ、複数のa型ラミンのアイソフォームがコードされている [8] 。 有糸分裂の初期には、核ラミンは特定のセリン残基がリン酸化され、ラミン …
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