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searching for lMNA 20 found (53 total)

alternate case: LMNA

Malouf syndrome (1,762 words) [view diff] exact match in snippet view article find links to article

is caused by a heterozygous missense mutation in the LMNA gene located on chromosome 1 (1q22). LMNA gene encodes for lamin A and lamin C. The lamin family
MLIP (gene) (792 words) [view diff] exact match in snippet view article
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
Lamin (2,196 words) [view diff] exact match in snippet view article find links to article
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
Progerin (590 words) [view diff] exact match in snippet view article find links to article
for this deleterious single nucleotide polymorphism within exon 11 of the LMNA gene. Lamin A constitutes a major structural component of the lamina, a scaffold
Salt bridge (protein and supramolecular) (2,410 words) [view diff] exact match in snippet view article
Puzianowska-Kuznicka M (November 2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral
Lamin B1 (958 words) [view diff] exact match in snippet view article find links to article
(Feb 1997). "Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization". Genomics. 32 (3):
Chromosome 6 (2,050 words) [view diff] exact match in snippet view article find links to article
specific transcript 1 (6p21.33) MIR4640: microRNA 4640 (6p21.33) MLIP: muscular LMNA interaction protein (6p12.1) MRPS18B: mitochondrial ribosomal protein S18B
List of genes mutated in cutaneous conditions (107 words) [view diff] exact match in snippet view article find links to article
Monilethrix KRT85 Pure hair–nail type of ectodermal dysplasia KRT86 Monilethrix LMNA Laminin A/C Progeria Köbberling–Dunnigan syndrome LMNB1 Laminin B1 Cutis
Paola Sebastiani (834 words) [view diff] exact match in snippet view article find links to article
Collins, Francis S. (2012). "Human longevity and common variations in the LMNA gene: a meta-analysis". Aging Cell. 11 (3): 475–481. doi:10.1111/j.1474-9726
Lamin B receptor (1,141 words) [view diff] exact match in snippet view article find links to article
(March 1996). "Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization". Genomics. 32 (3):
Congenital muscular dystrophy (2,041 words) [view diff] exact match in snippet view article find links to article
Retrieved 2016-04-26. "OMIM Entry - # 613205 - MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED". www.omim.org. Retrieved 2016-04-26. "OMIM Entry - # 613204 - MUSCULAR
Intermediate filament (3,117 words) [view diff] exact match in snippet view article find links to article
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
International Federation of Building and Wood Workers (363 words) [view diff] exact match in snippet view article find links to article
Electrical Workers' Union Finland Forestry Branch Trade Union of Latvia LMNA Latvia Forestry Sector in the State of Maharashtra VKS India Forestry Trade
SEPN1 (1,189 words) [view diff] exact match in snippet view article find links to article
(Aug 2005). "Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes". Neuromuscular Disorders. 15 (8): 521–4. doi:10.1016/j.nmd
Acquired generalized lipodystrophy (2,225 words) [view diff] exact match in snippet view article find links to article
"Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C". American Journal of Medical Genetics Part A
Telethonin (3,481 words) [view diff] exact match in snippet view article find links to article
genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN". Clinical Cardiology. 36 (10): 628–33. doi:10.1002/clc
Noncompaction cardiomyopathy (2,326 words) [view diff] exact match in snippet view article find links to article
Syndrome. Furthermore mutations in DES (desmin), TTN (titin), RBM20 and LMNA could be detected in a large cohort of LVNC patients. Loss-of-function variants
CRABP2 (1,625 words) [view diff] exact match in snippet view article find links to article
GM, Genschel J, Schmidt RE, Schmidt HH (May 2003). "Lack of mutations in LMNA, its promoter region, and the cellular retinoic acid binding protein II (CRABP
Lipofibromatosis (1,807 words) [view diff] exact match in snippet view article find links to article
Reisenbichler E, Snuderl M, Wang WL, Laskin W, Jour G (February 2021). "LMNA-NTRK1 rearranged mesenchymal tumor (lipofibromatosis-like neural tumor) mimicking
Stress granule (12,979 words) [view diff] exact match in snippet view article find links to article
Ligase 3 LIN28A LIN28A Lin-28 Homolog A LIN28B LIN28B Lin-28 Homolog B LMNA LMNA Prelamin-A/C LPP LPP Lipoma-preferred partner LSM1 LSM1 LSM1 Homolog,