Results 71 to 80 of about 1,412,344 (374)
, 2010 Mutations in the human ether-a-go-go-related gene (hERG) cause long-QT syndrome type 2 (LQT2). We previously described a homozygous LQT2 nonsense mutation Q1070X in which the mutant mRNA is degraded by nonsense-mediated mRNA decay (NMD) leading to a ...
Bhuiyan +39 more
core +1 more source
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy [PDF]
, 2019 Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons.
Asselbergh, B +10 more
core +1 more source
Molecular Oncology, EarlyView.The COMBAT classification system, developed through multi‐omics integration, stratifies adult patients with B‐cell acute lymphoblastic leukemia(B‐ALL) into three molecular subtypes with distinct surface antigen patterns, immune landscape, methylation patterns, biological pathways and prognosis.
Yang Song +11 more
wiley +1 more source
A truncation mutation in the L1CAM gene in a child with hydrocephalus
AIMS Molecular Science, 2021 Hydrocephalus is a neurodevelopmental, X-linked recessive disorder caused by mutations in the L1CAM gene. The L1CAM gene encodes for L1CAM protein which is essential for the nervous system development including adhesion between neurons, Myelination ...
Madhan Srinivasamurthy +2 more
doaj +1 more source
BMC Cancer, 2015 BackgroundPrevious study showed that mitochondrial ND6 (mitND6) gene missense mutation resulted in NADH dehydrogenase deficiency and was associated with tumor metastasis in several mouse tumor cell lines.
Yang Yuan +6 more
semanticscholar +1 more source
A novel mutation in SACS gene in a family from southern Italy [PDF]
, 2004 A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S +10 more
core
Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation [PDF]
, 2004 Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy.
De Groot, WP +7 more
core +1 more source
Molecular Oncology, EarlyView.In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim +11 more
wiley +1 more source
Haematologica, 2010 Background The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene.
Achille Iolascon +8 more
doaj +1 more source
Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia. [PDF]
PLoS ONE, 2018 Tooth agenesis is one of the most common craniofacial disorders in humans. More than 350 genes have been associated with teeth development. In this study, we enrolled 60 child patients (age 13 to 17) with various types of tooth agenesis.
Ondřej Bonczek +9 more
doaj +1 more source