Two novel deleterious variants of Angiotensin‐I‐converting Enzyme gene identified in a family with recurrent anhydramnios
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1239
Abstract: Anhydramnios results from the poor development of the placenta or problems with intrauterine development of the kidneys or urinary tract. Complete lack of amniotic fluid indicates a severe problem with the organs of the urinary… read more here.
Keywords: deleterious variants; variants angiotensin; angiotensin converting; converting enzyme ... See more keywords
Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.347
Abstract: A recent study identified DCHS1 as a causal gene for mitral valve prolapse. The goal of this study is to investigate the presence and frequency of known and novel variants in this gene in 100… read more here.
Keywords: deleterious variants; valve prolapse; prevalent sporadic; variants dchs1 ... See more keywords
Differential mutation profile of SARS-CoV-2 proteins across deceased and asymptomatic patients
Sign Up to like & getrecommendations! Published in 2021 at "Chemico-Biological Interactions"
DOI: 10.1016/j.cbi.2021.109598
Abstract: Background The SARS-CoV-2 infection has spread at an alarming rate with many places showing multiple peaks in incidence. Present study analyzes a total of 332 SARS-CoV-2 genome sequences from 114 asymptomatic and 218 deceased patients… read more here.
Keywords: deleterious variants; mutation profile; cov proteins; sars cov ... See more keywords
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers
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DOI: 10.1038/s41431-017-0021-2
Abstract: RAD51 paralogs (RAD51B, RAD51C, RAD51D, XRCC2, and XRCC3) have recently been involved in breast and ovarian cancer predisposition: RAD51B, RAD51C, and RAD51D in ovarian cancer, RAD51B and XRCC2 in breast cancer. The aim of this… read more here.
Keywords: paralogs breast; deleterious variants; rad51 paralogs; breast ovarian ... See more keywords
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of respiratory and critical care medicine"
DOI: 10.1164/rccm.202110-2439oc
Abstract: RATIONALE Genetic studies of Idiopathic Pulmonary Fibrosis (IPF) have improved our understanding of this disease, but not all causal loci have been identified. OBJECTIVE To identify genes enriched with rare deleterious variants in IPF and… read more here.
Keywords: pulmonary fibrosis; deleterious variants; rare deleterious; variants kif15 ... See more keywords
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants
Sign Up to like & getrecommendations! Published in 2020 at "PLoS ONE"
DOI: 10.1371/journal.pone.0236962
Abstract: The diffusion of next-generation sequencing technologies has revolutionized research and diagnosis in the field of rare Mendelian disorders, notably via whole-exome sequencing (WES). However, one of the main issues hampering achievement of a diagnosis via… read more here.
Keywords: missense; deleterious variants; prediction tool; missense variants ... See more keywords
Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients
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DOI: 10.1371/journal.pone.0239083
Abstract: Genes in the noncanonical WNT signaling pathway controlling planar cell polarity have been linked to the neural tube defect myelomeningocele. We hypothesized that some genes in the WNT signaling network have a higher mutational burden… read more here.
Keywords: wnt signaling; signaling genes; deleterious variants; 511 myelomeningocele ... See more keywords
Deleterious Mutation Burden and Its Association with Complex Traits in Sorghum (Sorghum bicolor)
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DOI: 10.1534/genetics.118.301742
Abstract: Sorghum (Sorghum bicolor (L.) Moench) is a major staple food cereal for millions of people worldwide. Valluru et al. identify putative deleterious mutations among ∼5.5M segregating variants of 229 diverse sorghum... Sorghum (Sorghum bicolor L.)… read more here.
Keywords: deleterious variants; sorghum bicolor; burden; sorghum sorghum ... See more keywords
The Impact of Recessive Deleterious Variation on Signals of Adaptive Introgression in Human Populations
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DOI: 10.1534/genetics.120.303081
Abstract: Admixture with archaic hominins has altered the landscape of genomic variation in modern human populations. Several gene regions have been identified previously as candidates of adaptive introgression (AI) that facilitated human adaptation to specific environments.… read more here.
Keywords: human populations; deleterious variants; variation; recessive deleterious ... See more keywords
Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced in vitro fertilization
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.1099270
Abstract: Introduction Oligoasthenoteratozoospermia (OAT) is a major cause of infertility in males. Only a few pathogenic genes of OAT have been clearly identified till now. A large number of OAT-affected cases remain largely unknown. Methods Here,… read more here.
Keywords: protamine exchange; oligoasthenoteratozoospermia; fertilization; histone protamine ... See more keywords