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...

is responsible for causing progeria. The affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus together. When this...

available on genotype-phenotype associations in DCM and mutations in lamin (LMNA), phospholamban (PLN), RNA Binding Motif Protein 20 (RBM20), Cardiac Myosin...

GCU CUC - 3' Protein: Asn Ser Leu Arg Thr Ala Leu LMNA missense mutation (c.1580G>T) introduced at LMNA gene – position 1580 (nt) in the DNA sequence (CGT)...

various types of Emery–Dreifuss muscular dystrophy. Mutation of the EMD or LMNA gene is the cause in 40% of cases. Each gene implicated in EDMD provides...

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...

dysferlinopathy, facioscapulohumeral muscular dystrophy, dystrophinopathy, and LMNA-associated myopathy. Autoimmune - Autoimmune disease is an abnormal immune...

Puzianowska-Kuznicka M (November 2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral...

nucleotide excision repair (NER) proteins, and nuclear envelope proteins LMNA (lamins) have been associated with the following progeroid syndromes:[citation...

with classical laminopathy have mutations in the gene coding for lamin A/C (LMNA gene).[citation needed] Mutations in the gene coding for lamin B2 (LMNB2...

development. Expressed in differentiated cells, A-type lamins originate from the LMNA gene. Two isoforms, lamins A and C, can be created from this gene via alternative...

brachydactyly This condition is caused by a splice site mutation in the LMNA gene, located in chromosome 1. This mutation is inherited following an autosomal...

protein and its malfunction which leads to disease (e.g. c.1580G>T SNP in LMNA gene – position 1580 (nt) in the DNA sequence (CGT codon) causing the guanine...

with this condition. Mutations associated with FPL have been reported in LMNA (lamin A/C), PPARG (PPARγ), AKT2 (AKT serine/threonine kinase 2), PLIN1 (perilipin-1)...

Hamed S, Puzianowska-Kuznicka M (2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral...

Emery–Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) LGMD1B 181350 LMNA EDMD phenotype and significant cardiac involvement Rippling muscle disease...

10q22.3 ARVD8 607450 DSP 6p24 ARVD9 609040 PKP2 12p11 ARVD10 610193 DSG2 18q12.1-q12 ARVD11 610476 DSC2 18q12.1 ARVD12 611528 JUP 17q21 ILK 11p15.4 LMNA...

Muscular LMNA interacting protein (MLIP) is a protein that in humans is encoded by the MLIP gene. The function of MLIP is not known but it has been suggested...

that is inherited. It is caused by a heterozygous missense mutation in the LMNA gene located on chromosome 1 (1q22). The person inherits two copies of this...

A and C are the most common A-type lamins and are splice variants of the LMNA gene found at 1q21. These proteins localize to two regions of the nuclear...

000 Emanuel syndrome 11, 22 partial trisomy Emery–Dreifuss syndrome EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43 Epidermolysis bullosa KRT5, KRT14, DSP, PKP1...

muscular dystrophy (MDC1A) or LAMA2-related CMD, rigid spine syndrome and LMNA-related congenital muscular dystrophy cause muscle contractures to develop...

arrhythmias. Furthermore, the group also defined the genomic features of lamin A (LMNA)-cardiomyopathy and delineated several mechanisms. A notable focus of Marian's...

G6E (pseudogene) (6p21.33) MIR4640: microRNA 4640 (6p21.33) MLIP: muscular LMNA interaction protein (6p12.1) MRPS18B: mitochondrial ribosomal protein S18B...

LEFTY1: Left-right determination factor 1 LHX9 encoding protein LIM homeobox 9 LMNA: lamin A/C LMOD1: encoding protein Leiomodin 1 LOC645166 encoding protein...

2020). "Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family with a progressive cardiac conduction defect: A case report"...

States Hospital General de la Plaza de la Salud in the Dominican Republic LMNA, or Lamin A/C, a protein ROBO3, or Roundabout homolog 3, a protein HGP (disambiguation)...

differential diagnostic clues for congenital muscular dystrophies as MDC1A, LMNA-Related muscular dystrophy among other genetic muscle diseases. Of note,...

manifestations have also been associated with Limb-girdle muscular dystrophy 2I and LMNA-related CMD. Cardiac manifestations may be secondary to severe thoracic spine...

for this deleterious single nucleotide polymorphism within exon 11 of the LMNA gene causing the post-translational modifications to produce progerin. Lamin...