LMNA Antibody
- Known as:
- LMNA Antibody
- Catalog number:
- abx000634
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Abbexa
- Gene target:
- LMNA Antibody
Ask about this productRelated genes to: LMNA Antibody
- Gene:
- LMNA NIH gene
- Name:
- lamin A/C
- Previous symbol:
- LMN1, CMD1A, LGMD1B, PRO1, LMNL1
- Synonyms:
- HGPS, MADA
- Chromosome:
- 1q22
- Locus Type:
- gene with protein product
- Date approved:
- 1992-04-09
- Date modifiied:
- 2019-04-23
Related products to: LMNA Antibody
Related articles to: LMNA Antibody
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Plachy LukasDusatkova PetraKavciak LukasAmaratunga Shenali AnneSlavenko MatveiDrabova JanaMaratova KlaraNeuman VitObermannova BarboraKolouskova StanislavaSnajderova MartaSumnik ZdenekLebl JanPruhova Stepanka - Non-ischaemic dilated cardiomyopathy (DCM) is frequently characterized by the presence of pathogenic germline variants, and genotype positivity predicts poor prognosis. Despite its importance, genetic testing remains underutilized in the current era. Therefore, we aimed to develop a deep learning model to predict genotype positivity using echocardiographic videos. - Source: PubMed
Publication date: 2026/05/05
Kiyohara YukoFukagawa SeitoNomura SeitaroKodera SatoshiNakanishi KokiHiruma TakashiAbe RyoInoue ShunsukeIshida JunichiAmiya EisukeHatano MasaruMorita HiroyukiTakeda NorihikoKomuro Issei - More than 360,000 Americans experience sudden cardiac arrest (SCA) annually. A subgroup is caused by rare genetic variants, but existing studies are not population based and have been limited to nonsurvivors. - Source: PubMed
Publication date: 2026/04/06
Kransdorf Evan PMathias MarcoNakamura KotokaChugh HarpriyaNguyen DavidTyrer JonathanPharoah Paul DReinier KyndaronAkdemir ZeynepBoerwinkle EricYu BingChugh Sumeet S - Atrial fibrillation (AF), the most common sustained arrhythmia, has a complex genetic basis; however, the molecular mechanisms linking rare and common variants remain poorly understood. Polygenic risk score (PRS) analysis in the UK Biobank and All of Us cohorts reveals that carriers of protein-altering LMNA variants (PAVs) have a significantly higher risk of incident AF than predicted by PRS alone, supporting an additive effect of common polymorphisms and LMNA variants. Induced pluripotent stem cell derived atrial cardiomyocytes (iPSC-aCMs) from individuals carrying the pathogenic missense variant p.S143P in LMNA exhibit widespread disruption of chromatin architecture and perturbation of atrial gene regulatory networks, particularly at loci harboring AF-associated variants and transcription factors essential for atrial rhythm control and contractility. Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-based epigenetic editing validates the function of several AF-associated regulatory elements and their downstream targets. Notably, reduced accessibility at an intronic SCN10A enhancer harboring the AF-associated SNP rs6801957 is associated with reduced sodium current in p.S143P iPSC-aCMs. These findings are reproduced in iPSC-aCMs derived from an additional individual carrying a distinct pathogenic LMNA variant, supporting a broader mechanism in which rare LMNA variants and common polymorphisms converge on shared regulatory networks to influence AF susceptibility and highlighting the value of integrating both in arrhythmia risk assessment. - Source: PubMed
Publication date: 2026/05/19
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