Prelamin-A/C (redirect from LMNA (gene))
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...
24 KB (2,694 words) - 22:56, 9 April 2024
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...
59 KB (6,146 words) - 14:55, 6 October 2024
available on genotype-phenotype associations in DCM and mutations in lamin (LMNA), phospholamban (PLN), RNA Binding Motif Protein 20 (RBM20), Cardiac Myosin...
38 KB (3,637 words) - 06:02, 5 June 2024
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)...
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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...
21 KB (1,627 words) - 14:48, 21 August 2024
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...
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dysferlinopathy, facioscapulohumeral muscular dystrophy, dystrophinopathy, and LMNA-associated myopathy. Autoimmune - Autoimmune disease is an abnormal immune...
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Puzianowska-Kuznicka M (November 2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral...
21 KB (2,523 words) - 08:06, 1 August 2024
nucleotide excision repair (NER) proteins, and nuclear envelope proteins LMNA (lamins) have been associated with the following progeroid syndromes:[citation...
74 KB (8,734 words) - 22:32, 18 September 2024
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...
32 KB (3,382 words) - 06:42, 20 May 2024
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...
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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...
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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...
58 KB (6,240 words) - 04:24, 29 September 2024
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)...
7 KB (697 words) - 04:39, 30 June 2022
Hamed S, Puzianowska-Kuznicka M (2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral...
3 KB (182 words) - 23:57, 6 May 2024
Emery–Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) LGMD1B 181350 LMNA EDMD phenotype and significant cardiac involvement Rippling muscle disease...
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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...
37 KB (4,215 words) - 22:06, 15 September 2024
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...
50 KB (5,441 words) - 04:00, 19 August 2024
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...
6 KB (792 words) - 23:26, 3 March 2023
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...
30 KB (3,168 words) - 14:29, 25 April 2024
000 Emanuel syndrome 11, 22 partial trisomy Emery–Dreifuss syndrome EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43 Epidermolysis bullosa KRT5, KRT14, DSP, PKP1...
42 KB (983 words) - 18:14, 6 October 2024
muscular dystrophy (MDC1A) or LAMA2-related CMD, rigid spine syndrome and LMNA-related congenital muscular dystrophy cause muscle contractures to develop...
18 KB (2,023 words) - 20:19, 25 July 2024
arrhythmias. Furthermore, the group also defined the genomic features of lamin A (LMNA)-cardiomyopathy and delineated several mechanisms. A notable focus of Marian's...
14 KB (1,575 words) - 09:42, 25 June 2024
G6E (pseudogene) (6p21.33) MIR4640: microRNA 4640 (6p21.33) MLIP: muscular LMNA interaction protein (6p12.1) MRPS18B: mitochondrial ribosomal protein S18B...
35 KB (2,420 words) - 20:57, 24 August 2024
LEFTY1: Left-right determination factor 1 LHX9 encoding protein LIM homeobox 9 LMNA: lamin A/C LMOD1: encoding protein Leiomodin 1 LOC645166 encoding protein...
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2020). "Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family with a progressive cardiac conduction defect: A case report"...
25 KB (2,738 words) - 01:40, 20 September 2024
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)...
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differential diagnostic clues for congenital muscular dystrophies as MDC1A, LMNA-Related muscular dystrophy among other genetic muscle diseases. Of note,...
36 KB (3,611 words) - 17:53, 23 August 2024
manifestations have also been associated with Limb-girdle muscular dystrophy 2I and LMNA-related CMD. Cardiac manifestations may be secondary to severe thoracic spine...
34 KB (3,524 words) - 14:14, 13 August 2024
for this deleterious single nucleotide polymorphism within exon 11 of the LMNA gene causing the post-translational modifications to produce progerin. Lamin...
9 KB (1,036 words) - 15:42, 31 May 2024