Results 41 to 50 of about 24,019 (217)
BMC Medical Genomics, 2023 LMNA gene encodes lamin A/C protein which participates in the construction of nuclear lamina, the mutations of LMNA result in a wide variety of diseases known as laminopathies.
Lei Chang +6 more
doaj +1 more source
PLoS ONE, 2017 Aminoacyl-tRNA synthetases-interacting multifunctional protein3 (AIMP3/p18) is involved in the macromolecular tRNA synthetase complex via its interaction with several aminoacyl-tRNA synthetases.
Yeqing Tao +5 more
doaj +1 more source
Improved split fluorescent proteins for endogenous protein labeling. [PDF]
, 2017 Self-complementing split fluorescent proteins (FPs) have been widely used for protein labeling, visualization of subcellular protein localization, and detection of cell-cell contact.
Feng, Siyu +5 more
core +2 more sources
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]
, 2014 Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Bai, Shaochun +5 more
core +3 more sources
Genomic instability and DNA replication defects in progeroid syndromes [PDF]
, 2018 Progeroid syndromes induced by mutations in lamin A or in its interactors – named progeroid laminopathies – are model systems for the dissection of the molecular pathways causing physio- logical and premature aging.
Chiara Merigliano +4 more
core +1 more source
LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
Архивъ внутренней медициныEmery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik +5 more
doaj +1 more source
Stem Cell Research, 2022 LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement, reduced systolic function, and arrhythmia.
Chelsea Lee +5 more
doaj +1 more source
Cell-extrinsic defective lymphocyte development in Lmna(-/-) mice. [PDF]
PLoS ONE, 2010 Mutations in the LMNA gene, which encodes all A-type lamins, result in a variety of human diseases termed laminopathies. Lmna(-/-) mice appear normal at birth but become runted as early as 2 weeks of age and develop multiple tissue defects that mimic ...
J Scott Hale +4 more
doaj +1 more source
Lamin A/C and emerin regulate MKL1/SRF activity by modulating actin dynamics [PDF]
, 2014 Laminopathies, caused by mutations in the LMNA gene encoding the nuclear envelope proteins lamins A and C, represent a diverse group of diseases that include Emery-Dreifuss Muscular Dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular ...
Ho, Chin Yee +3 more
core +1 more source
Frontiers in Genetics, 2023 Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes
Sergi Cesar +68 more
doaj +1 more source