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Predicting pathogenic protein variants
Science, 2023Machine-learning algorithm uses structure prediction to spot disease-causing ...
Joseph A, Marsh, Sarah A, Teichmann
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TMAO to the rescue of pathogenic protein variants
Biochimica et Biophysica Acta (BBA) - General Subjects, 2022Trimethylamine N-oxide (TMAO) is a chemical chaperone found in various organisms including humans. Various studies unveiled that it is an excellent protein-stabilizing agent, and induces folding of unstructured proteins. It is also well established that it can counteract the deleterious effects of urea, salt, and hydrostatic pressure on macromolecular ...
Kritika, Kumari +4 more
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Germline pathogenic SMARCA4 variants in neuroblastoma
Journal of Medical Genetics, 2023Heterozygous germline pathogenic variants (GPVs) in SMARCA4, the gene encoding the ATP-dependent chromatin remodelling protein SMARCA4 (previously known as BRG1), predispose to several rare tumour types, including small cell carcinoma of the ovary, hypercalcaemic type, atypical teratoid and malignant rhabdoid tumour, and uterine sarcoma.
Leora Witkowski +14 more
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Pathogens select for genomic variants
Science, 2017Malarial Genomics Large-scale deletions and duplications of genes, referred to as structural variants (SVs), are common within the human genome and have been linked to disease. Examining a genomic region that appears to confer a selective benefit, Leffler et al.
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PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum
2020Protocadherin-19 (PCDH19) pathogenic variants cause an infantile onset epilepsy syndrome called Girls Clustering Epilepsy due to the vast majority of affected individuals being female. This syndromic name was developed to foster early recognition and diagnosis in infancy.
Kolc, Kristy L. +5 more
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Potentially pathogenic and pathogenic G6PD variants
The American Journal of Human Genetics, 2023Lucio, Luzzatto +2 more
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Pathogenic variants in non‐protein‐coding sequences
Clinical Genetics, 2013There are approximately 3000 human protein‐coding genes that have been linked with (near) monogenic disorders. This knowledge reflects the past and present focus on protein‐coding genes as the main reservoir of pathogenic variation in the human genome.
Makrythanasis P1, Antonarakis SE.
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Germline pathogenic variants in prostate cancer
Pathology - Research and PracticeWhile most prostate cancer is sporadic, evidence suggests that a significant minority of cases have a hereditary component, and germline variants may play a role in this heritability. In this study, we investigated germline pathogenic variants in prostate cancer patients.
Yousif M, Shakroo +5 more
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Journal of Clinical Oncology, 2019
1528 Background: While small studies have supported a genetic cancer predisposition among subjects with urothelial carcinoma (UC), systematic germline evaluation of this population is lacking. Here, we report the prevalence of germline variants among subjects with UC from multiple centers completing panel-based testing at a large, commercial ...
Sarah Abou Alaiwi +11 more
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1528 Background: While small studies have supported a genetic cancer predisposition among subjects with urothelial carcinoma (UC), systematic germline evaluation of this population is lacking. Here, we report the prevalence of germline variants among subjects with UC from multiple centers completing panel-based testing at a large, commercial ...
Sarah Abou Alaiwi +11 more
openaire +1 more source