Associated Papers
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins
LMNA Co-Regulated Gene Expression as a Suitable Readout after Precise Gene Correction.
Wang H et al.
International Journal of Molecular Sciences, 2022
Slower diffusion and anomalous association of R453W lamin A protein alter nuclear architecture in AD-EDMD.
Mukherjee C et al.
Rsc Advances, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.
Boschmann M et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Genotype-phenotype correlations in laminopathies: how does fate translate?
Scharner J et al.
Biochemical Society Transactions, 2010
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S et al.
Neurology, 2007
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.
D'Amico A et al.
Neuromuscular Disorders : Nmd, 2005
A new LMNA mutation causing limb girdle muscular dystrophy 1B.
Spuler S et al.
Journal of Neurology, 2005
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