The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
PD Stenson, M Mort, EV Ball, M Chapman, K Evans… - Human genetics, 2020 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that are thought to underlie, or …
collection of published germline mutations in nuclear genes that are thought to underlie, or …
Diverse molecular mechanisms underlying pathogenic protein mutations: beyond the loss-of-function paradigm
L Backwell, JA Marsh - Annual review of genomics and human …, 2022 - annualreviews.org
Most known disease-causing mutations occur in protein-coding regions of DNA. While some
of these involve a loss of protein function (eg, through premature stop codons or missense …
of these involve a loss of protein function (eg, through premature stop codons or missense …
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …
way proteins are made. Taking protein structure into account has therefore provided great …
The polygenic and monogenic basis of blood traits and diseases
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
Pre-clinical study of induced pluripotent stem cell-derived dopaminergic progenitor cells for Parkinson's disease
Induced pluripotent stem cell (iPSC)-derived dopaminergic (DA) neurons are an expected
source for cell-based therapies for Parkinson's disease (PD). The regulatory criteria for the …
source for cell-based therapies for Parkinson's disease (PD). The regulatory criteria for the …
Integrated proteogenomic characterization across major histological types of pediatric brain cancer
We report a comprehensive proteogenomics analysis, including whole-genome sequencing,
RNA sequencing, and proteomics and phosphoproteomics profiling, of 218 tumors across 7 …
RNA sequencing, and proteomics and phosphoproteomics profiling, of 218 tumors across 7 …
Endophenotype-based in silico network medicine discovery combined with insurance record data mining identifies sildenafil as a candidate drug for Alzheimer's …
We developed an endophenotype disease module-based methodology for Alzheimer's
disease (AD) drug repurposing and identified sildenafil as a potential disease risk modifier …
disease (AD) drug repurposing and identified sildenafil as a potential disease risk modifier …
[HTML][HTML] Targeted disruption of HLA genes via CRISPR-Cas9 generates iPSCs with enhanced immune compatibility
H Xu, BO Wang, M Ono, A Kagita, K Fujii, N Sasakawa… - Cell stem cell, 2019 - cell.com
Induced pluripotent stem cells (iPSCs) have strong potential in regenerative medicine
applications; however, immune rejection caused by HLA mismatching is a concern. B2M …
applications; however, immune rejection caused by HLA mismatching is a concern. B2M …
[HTML][HTML] Genomic basis for RNA alterations in cancer
PCAWG Transcriptome Core Group Calabrese Claudia … - Nature, 2020 - nature.com
Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …
RNA alterations have been described in cancer, including overexpression, altered splicing …
Wilson disease
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that
is characterized by the pathological accumulation of copper. WD is caused by mutations in …
is characterized by the pathological accumulation of copper. WD is caused by mutations in …