Missense mutations
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Atypical hemolytic uremic syndrome, also called the nondiarrheal form of hemolytic uremic syndrome, is a rare disease characterized by the triad of thrombocytopenia, Coomb’s test-negative microangiopathic hemolytic anemia, and acute renal failure.
6p vitiki 30-01-2024 4 2 Download
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Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardiomyopathy (CM). Various studies described mutations in protein-encoding mtDNA genes, such as cytochrome-b, manifesting with CM. A detailed clinical, biochemical, and molecular genetic analysis was performed in a 40-year-old male with dilated CM (DCM) to detect the underlying mtDNA defect.
5p viintuit 26-09-2023 2 0 Download
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Multiple osteochondroma (MO) is an autosomal dominant skeletal disorder characterized by the formation of multiple osteochondromas, and exostosin-1 (EXT1) and exostosin-2 (EXT2) are major causative genes in MO. In this study, we evaluated the genetic backgrounds and mutational patterns in Japanese families with MO.
7p vinarcissa 21-03-2023 4 1 Download
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Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire.
9p vinarcissa 21-03-2023 2 1 Download
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The Human Leukocyte Antigen G (HLA-G) protein is an immune tolerogenic molecule with 7 isoforms. The change of expression level and some polymorphisms of the HLA-G gene are involved in various pathologies.
27p vihagrid 30-01-2023 6 3 Download
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Myeloproliferative neoplasm is a group of blood cancers, including three main diseases: Essential thrombocythemia, primary myelofibrosis, and polycythemia vera. Several molecular signaling pathways such as JAK/STAT, PI3K or SHP have been demonstrated that play a crucial role in controlling the signaling-mediated immune response related to Myeloproliferative neoplasms.
6p vimelindagates 18-07-2022 4 2 Download
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In previous studies, CRISPR/Cas9 was shown to induce unexpected exon skipping; however, the mechanism by which this phenomenon is triggered is controversial. By analyzing 22 gene-edited rabbit lines generated using CRISPR/Cas9, we provide evidence of exon skipping at high frequency in premature termination codon-mutated rabbits but not in the rabbits with a premature termination codon mutation in exon 1 rabbits with non-frameshift or missense mutations.
5p vigalileogalilei 27-02-2022 11 1 Download
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Mutations in the transcription factor, KLF1, are common within certain populations of the world. Heterozygous missense mutations in KLF1 mostly lead to benign phenotypes, but a heterozygous mutation in a DNA-binding residue (E325K in human) results in severe Congenital Dyserythropoietic Anemia type IV (CDA IV); i.e. an autosomal-dominant disorder characterized by neonatal hemolysis.
12p visilicon2711 20-08-2021 6 1 Download
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The flesh pigmentation of farmed Atlantic salmon is formed by accumulation of carotenoids derived from commercial diets. In the salmon gastrointestinal system, the hindgut is considered critical in the processes of carotenoids uptake and metabolism.
21p vijeeni2711 24-07-2021 13 0 Download
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Cataracts are defects of the lens that cause progressive visual impairment and ultimately blindness in many vertebrate species. Most cataracts are age-related, but up to one third have an underlying genetic cause.
10p vilichoo2711 25-06-2021 10 1 Download
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Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant hereditary collagen disease caused by a defect or deficiency in the pro-α1 chain of type III procollagen encoded by the COL3A1 gene. Patients with vEDS rarely present with multiple pneumothoraces.
7p vimaine2711 26-03-2021 16 2 Download
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Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. Mutations in a gene encoding matrilin-3 (MATN3) have been reported as disease causing of autosomal dominant MED.
8p vimariana2711 22-12-2020 8 2 Download
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Several methods have been developed to predict the pathogenicity of missense mutations but none has been specifically designed for classification of variants in mtDNA-encoded polypeptides.
11p vioklahoma2711 19-11-2020 7 1 Download
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Because driver mutations provide selective advantage to the mutant clone, they tend to occur at a higher frequency in tumor samples compared to selectively neutral (passenger) mutations. However, mutation frequency alone is insufficient to identify cancer genes because mutability is influenced by many gene characteristics, such as size, nucleotide composition, etc.
14p vicoachella2711 27-10-2020 7 0 Download
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Missense mutations in the first five exons of F9, which encodes factor FIX, represent 40% of all mutations that cause hemophilia B. A simple function that integrates information from different in silico programs yields the best prediction of mutated phenotypes.
13p vijisoo2711 27-10-2020 12 1 Download
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Any two unrelated people difer by about 20,000 missense mutations (also referred to as SAVs: Single Amino acid Variants or missense SNV). Many SAVs have been predicted to strongly afect molecular protein function.
17p vicolorado2711 22-10-2020 10 0 Download
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Deep mutational scanning (DMS) studies exploit the mutational landscape of sequence variation by systematically and comprehensively assaying the effect of single amino acid variants (SAVs; also referred to as missense mutations, or non-synonymous Single Nucleotide Variants – missense SNVs or nsSNVs) for particular proteins.
12p vicolorado2711 22-10-2020 8 0 Download
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Mutations in NBN, the gene for Nijmegen Breakage Syndrome (NBS), are thought to predispose women to developing breast cancer, but a breast cancer cell line containing mutations in NBN has not yet been described. The p.R215W missense mutation occurs at sub-polymorphic frequencies in several populations.
10p virose2711 22-09-2020 12 2 Download
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Previous 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. In the present study, we investigated the possible role of mitND6 gene nonsense and missense mutations in the metastasis of human lung adenocarcinoma.
10p vialabama2711 21-09-2020 15 0 Download
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Missense mutation of VHL gene is frequently detected in type 2 VHL diseases and linked to a wide range of pVHL functions and stability. Certain mutant pVHLs retain ability to regulate HIFs but lose their function by instability.
13p vimoscow2711 29-08-2020 8 2 Download