2024年12月25日 · LMNA (Lamin A/C) is a Protein Coding gene. Diseases associated with LMNA include Hutchinson-Gilford Progeria Syndrome and Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant. Among its related pathways are Apoptosis and survival FAS signaling cascades and Defective Intrinsic Pathway for Apoptosis.

2008年6月12日 · 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 arrhythmias.

2020年7月3日 · 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.

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 body's cells.

Laminopathies are rare diseases associated with mutations in LMNA, which encodes nuclear lamin A/C. LMNA variants lead to diverse tissue-specific phenotypes including cardiomyopathy, lipodystrophy, myopathy, neuropathy, progeria, bone/skin disorders, and overlap syndromes.

2025年1月17日 · LMNA is a hotspot gene for diverse genetic diseases. Depending on the type and location of genetic variants, LMNA is associated with cardiomyopathy, muscular dystrophy, lipodystrophy or progeria syndrome [11].

2017年12月13日 · Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med . 1999; 341 :1715–1724. doi: 10.1056/NEJM199912023412302.

Prelamin-A/C, or lamin A/C is a protein that in humans is encoded by the LMNA gene. [5][6][7] Lamin A/C belongs to the lamin family of proteins. Biogenesis of lamin A in normal cells and the failure to generate mature lamin A in Hutchinson–Gilford progeria syndrome. [8]

2020年7月2日 · LMNA gene maps to chromosome 1q21.1-21.2 and is composed of 12 exons spanning around 25 kb. It encodes A-type nuclear lamins via alternative splicing ( Lin and Worman, 1993 ; Wydner et al., 1996 ): Lamin A and C (Lamin A/C) represents the two main isoforms, while Lamin C2 and AD10 are described in germ cells and cancer cells, respectively ...

The LMNA gene encodes lamin A and lamin C. Lamins are structural protein components of the nuclear lamina, a protein network underlying the inner nuclear membrane that determines nuclear shape and size. The lamins constitute a class of intermediate filaments.

2021年12月3日 · Rare variants in the LMNA gene encoding nuclear lamin A/C are causal for more than a dozen diverse mendelian disorders. Defining the functional consequences of LMNA variants has been challenging...

Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis. Phosphorylated Lamin A/C in the Nuclear Interior Binds Active Enhancers Associated with Abnormal Transcription in Progeria.

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2024年12月6日 · The barley Mla locus contains functionally diversified genes that encode intracellular nucleotide-binding leucine-rich repeat receptors (NLRs) and confer strain-specific immunity to biotrophic and hemibiotrophic fungal pathogens.

2013年6月27日 · Sr33 is orthologous to the barley (Hordeum vulgare) Mla mildew resistance genes that confer resistance to Blumeria graminis f. sp. hordei. The wheat Sr33 gene functions independently of RAR1, SGT1, and HSP90 chaperones.

2021年11月25日 · Here, we show that three resistance genes, Rps6, Rps7, and Rps8, contribute to immunity in barley to wheat stripe rust. Rps7 cosegregates with barley powdery mildew resistance at the Mla locus....

The Mla region is organized as three gene-rich islands separated by two nested complexes of transposable elements and a 45-kb gene-poor region. A heterochromatic-like region is positioned directly proximal to Mla and is composed of a gene-poor core with 17 families of diverse tandem repeats that overlap a hypermethylated, but transcriptionally ...

2021年2月3日 · Nucleotide-binding domain leucine-rich repeat-containing receptors (NLRs) in plants can detect avirulence (AVR) effectors of pathogenic microbes. The Mildew locus a (Mla) NLR gene has been shown to confer resistance against diverse fungal pathogens in cereal crops.

2012年6月7日 · The barley MLA gene is polymorphic in nature and encodes NLRs of the coiled-coil (CC)-NB-LRR type that each detects a cognate isolate-specific effector of the barley powdery mildew fungus. We report the systematic analyses of MLA10 activity in disease resistance and cell death signaling in barley and Nicotiana benthamiana .

2018年11月19日 · The barley disease resistance (R) gene locus mildew locus A (Mla) provides isolate-specific resistance against the powdery mildew fungus Blumeria graminis hordei and has been introgressed into modern cultivars from diverse germplasms, including the wild relative Hordeum spontaneum.