An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24061
Abstract: The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the pathogenicity of variants with… read more here.
Keywords: vinculin; penetrance; loss function; function variants ... See more keywords
Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24090
Abstract: The penetrance of the p.[Met694Val];[Met694Val] genotype of pyrin in adult familial Mediterranean fever (FMF) patients is close to 100%. Disease penetrance of the p.[Met694Val];[Glu148Gln] genotype (M694V/E148Q), and the heterozygous p.[Met694Val];[=] genotype is unknown. A difference… read more here.
Keywords: met694val glu148gln; glu148gln met694val; penetrance; met694val ... See more keywords
Nonsteroidal Anti‐inflammatory Use and LRRK2 Parkinson's Disease Penetrance
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DOI: 10.1002/mds.28189
Abstract: The penetrance of leucine rich repeat kinase 2 (LRRK2) mutations is incomplete and may be influenced by environmental and/or other genetic factors. Nonsteroidal anti‐inflammatory drugs (NSAIDs) are known to reduce inflammation and may lower Parkinson's… read more here.
Keywords: nonsteroidal anti; parkinson disease; penetrance; anti inflammatory ... See more keywords
MCC950 blocks enhanced interleukin-1β production in patients with NLRP3 low penetrance variants.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical immunology"
DOI: 10.1016/j.clim.2019.04.004
Abstract: OBJECTIVE To determine the role of the NLRP3 inflammasome by using the selective NLRP3 inhibitor MCC950 in patients with NLRP3 low penetrance variants and clinical symptoms suggestive for an autoinflammatory syndrome including central nervous system… read more here.
Keywords: patients nlrp3; nlrp3 low; penetrance; low penetrance ... See more keywords
Incomplete penetrance in mitochondrial optic neuropathies.
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DOI: 10.1016/j.mito.2017.07.004
Abstract: Incomplete penetrance characterizes the two most frequent inherited optic neuropathies, Leber's Hereditary Optic Neuropathy (LHON) and dominant optic atrophy (DOA), due to genetic errors in the mitochondrial DNA (mtDNA) and the nuclear DNA (nDNA), respectively.… read more here.
Keywords: mitochondrial optic; penetrance mitochondrial; penetrance; mtdna ... See more keywords
Penetrance and predictive value of genetic screening in acute porphyria.
Sign Up to like & getrecommendations! Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2020.02.003
Abstract: OBJECTIVE Penetrance, predictive value and female patients' perspectives on genetic testing were evaluated among Finnish patients with acute porphyria. We conducted a retrospective study to evaluate prognosis among at-risk female family members depending on the… read more here.
Keywords: risk; diagnosis; penetrance; group ... See more keywords
The Association of Low-Penetrance Variants in DNA Repair Genes with Colorectal Cancer: A Systematic Review and Meta-Analysis
Sign Up to like & getrecommendations! Published in 2017 at "Clinical and Translational Gastroenterology"
DOI: 10.1038/ctg.2017.35
Abstract: Objectives:Approximately 35% of colorectal cancer (CRC) risk is attributable to heritable factors known hereditary syndromes, accounting for 6%. The remainder may be due to lower penetrance polymorphisms particularly of DNA repair genes. DNA repair pathways,… read more here.
Keywords: risk; dna repair; penetrance; cancer ... See more keywords
Chaperone biomarkers of lifespan and penetrance track the dosages of many other proteins
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-13664-7
Abstract: Many traits vary among isogenic individuals in homogeneous environments. In microbes, plants and animals, variation in the protein chaperone system affects many such traits. In the animal model C. elegans, the expression level of hsp-16.2… read more here.
Keywords: chaperone biomarkers; penetrance; biomarkers lifespan; penetrance track ... See more keywords
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-59455-9
Abstract: Twist1 encodes a basic helix-loop-helix transcription factor (TF), which forms homodimer or heterodimer with other TFs, like E2A, to regulate target genes’ expression. Mutations in TWIST1 are associated with Saethre-Chotzen syndrome (SCS), a rare congenital… read more here.
Keywords: transcription; penetrance; twist1; dependent transcription ... See more keywords
Maximizing CRISPR/Cas9 phenotype penetrance applying predictive modeling of editing outcomes in Xenopus and zebrafish embryos
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DOI: 10.1038/s41598-020-71412-0
Abstract: CRISPR/Cas9 genome editing has revolutionized functional genomics in vertebrates. However, CRISPR/Cas9 edited F0 animals too often demonstrate variable phenotypic penetrance due to the mosaic nature of editing outcomes after double strand break (DSB) repair. Even… read more here.
Keywords: editing outcomes; crispr cas9; outcomes xenopus; penetrance ... See more keywords
Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2021.2021427
Abstract: ABSTRACT Purpose To investigate the penetrance of MYOC gene mutation in primary open-angle glaucoma (POAG) through systematic review and meta-analysis. To explore the factors affecting the penetrance of MYOC and provide evidence-based medical evidence for… read more here.
Keywords: penetrance myoc; penetrance; mutation; poag ... See more keywords