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Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. [PDF]

, 2012
Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility ...
Dutra-Clarke, Ana +999 more
core +4 more sources

Targeting translational read-through of premature termination mutations in with PTC124 for pulmonary arterial hypertension

Pulmonary Circulation, 2020
Pulmonary arterial hypertension is a fatal disorder of the lung circulation in which accumulation of vascular cells progressively obliterates the pulmonary arterioles. This results in sustained elevation in pulmonary artery pressure leading eventually to
Lu Long +7 more
doaj +1 more source

Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I

Disease Models & Mechanisms, 2016
Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence of nerve sheath tumors and considerable clinical heterogeneity.
Kairong Li +11 more
doaj +1 more source

Nonaminoglycoside compounds induce readthrough of nonsense mutations [PDF]

Journal of Experimental Medicine, 2009
Large numbers of genetic disorders are caused by nonsense mutations for which compound-induced readthrough of premature termination codons (PTCs) might be exploited as a potential treatment strategy. We have successfully developed a sensitive and quantitative high-throughput screening (HTS) assay, protein transcription/translation (PTT)–enzyme-linked ...
Du, Liutao +10 more
openaire +4 more sources

Translophagy—A potential link between autophagy impairment and translational errors

FEBS Letters, EarlyView.
Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk +11 more
wiley +1 more source

Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome

Leukemia Research Reports, 2015
Here we report two new RUNX1 mutations in one patient with congenital thrombocytopenia that transformed into a high grade myelodysplastic syndrome with myelomonocytic features. The first mutation was a nucleotide base substitution from guanine to adenine
Jessica M. Schmit +8 more
doaj +1 more source

Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179 [PDF]

, 2015
The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only results in structural preservation of photoreceptors, and restoration of the ...
Bainbridge, James W.B. +35 more
core +1 more source

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley +1 more source

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. [PDF]

, 2005
The authors report the clinical and histologic phenotypes of a LGMD1B family including a newborn child with a homozygous LMNA nonsense mutation (Y259X).
Lammens, M. +15 more
core +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder +10 more
wiley +1 more source

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