Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.1002/gcc.23042
Abstract: As an essential regulator of DNA damage, ataxia‐telangiectasia mutated (ATM) gene has been widely studied in oncology. However, the independent effects of ATM missense variants and protein‐truncating variants (PTVs) on neoplasms have not been heavily… read more here.
Keywords: protein truncating; level; missense variants; 694 biobank ... See more keywords
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23753
Abstract: Leigh syndrome is a mitochondrial disease caused by pathogenic variants in over 85 genes. Whole exome sequencing of a patient with Leigh‐like syndrome identified homozygous protein‐truncating variants in two genes associated with Leigh syndrome; a… read more here.
Keywords: truncating variant; variants two; leigh syndrome; protein truncating ... See more keywords
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107471
Abstract: Background Rare protein-truncating variants (PTVs) in partner and localiser of BRCA2 (PALB2) confer increased risk to breast cancer, but relatively few studies have reported the prevalence in South-East Asian populations. Here, we describe the prevalence… read more here.
Keywords: variants palb2; missense variants; protein truncating; breast cancer ... See more keywords
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108677
Abstract: The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic variants in 8 genes (of 14) encoding TRAPP proteins are involved… read more here.
Keywords: related disorder; truncating variant; protein truncating; trappc2l related ... See more keywords
Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability.
Sign Up to like & getrecommendations! Published in 2025 at "Current medicinal chemistry"
DOI: 10.2174/0109298673365248250312064016
Abstract: BACKGROUND Intellectual disability (ID) is characterized by impairments in cognitive functioning and adaptive behavior. Globally, it affects 1-3% of the general population, with an increased prevalence in consanguineous families. It is a clinically heterogeneous disorder… read more here.
Keywords: intellectual disability; scaper gene; disability; truncating variant ... See more keywords
Genetic Diversity in Schizophrenia: Developmental Implications of Ultra-Rare, Protein-Truncating Mutations
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DOI: 10.3390/genes15091214
Abstract: The genetic basis of schizophrenia (SZ) remains elusive despite its characterization as a highly heritable disorder. This incomplete understanding has led to stagnation in therapeutics and treatment, leaving many suffering with insufficient relief from symptoms.… read more here.
Keywords: schizophrenia; etiology; rare protein; risk ... See more keywords