A Recurrent EIF2AK2 Missense Variant Causes Autosomal‐Dominant Isolated Dystonia
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DOI: 10.1002/ana.26081
Abstract: A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia Thomas Musacchio, MD, Michael Zech, MD , Martin M. Reich, MD, Juliane Winkelmann, MD,2,3,4,5‡ and Jens Volkmann, MD1‡ We read with interest the article by Kuipers… read more here.
Keywords: 388g gly130arg; recurrent eif2ak2; eif2ak2 missense; missense variant ... See more keywords
The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response
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DOI: 10.1002/humu.24133
Abstract: PALB2 has been identified as a breast and pancreatic cancer susceptibility gene. Utilizing a targeted sequencing approach, we discovered two novel germline missense PALB2 variants c.191C>T and c.311C>T, encoding p.Ser64Leu and p.Pro104Leu, respectively, in individuals… read more here.
Keywords: missense; ser64leu pro104leu; pancreatic cancer; palb2 ... See more keywords
Re‐evaluation of missense variant classifications in NF2
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DOI: 10.1002/humu.24370
Abstract: Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary… read more here.
Keywords: missense; variant classifications; pathology; missense variants ... See more keywords
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
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DOI: 10.1002/mgg3.969
Abstract: The bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating, heterozygous variants, and deletions of one of the essential receptors in this pathway, Bone… read more here.
Keywords: variant bmpr1a; bmpr1a resulting; homozygous missense; bmpr1a ... See more keywords
Systematic Cell-Based Phenotyping of Missense Alleles.
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DOI: 10.1007/978-1-4939-6960-9_17
Abstract: Sequencing of the protein-coding genome, the exome, has proven powerful to unravel links between genetic variation and disease for both Mendelian and complex conditions. Importantly, however, the increasing number of sequenced human exomes and mapping… read more here.
Keywords: missense alleles; rare low; cell based; missense ... See more keywords
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2019.01.010
Abstract: Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are… read more here.
Keywords: missense variants; intellectual disability; trrap; missense ... See more keywords
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
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DOI: 10.1016/j.ajhg.2020.12.003
Abstract: Summary The lack of functional evidence for the majority of missense variants limits their clinical interpretability and poses a key barrier to the broad utility of carrier screening. In Lynch syndrome (LS), one of the… read more here.
Keywords: missense variants; massively parallel; msh2; parallel functional ... See more keywords
Shifting landscapes of human MTHFR missense-variant effects
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DOI: 10.1016/j.ajhg.2021.05.009
Abstract: Summary Most rare clinical missense variants cannot currently be classified as pathogenic or benign. Deficiency in human 5,10-methylenetetrahydrofolate reductase (MTHFR), the most common inherited disorder of folate metabolism, is caused primarily by rare missense variants.… read more here.
Keywords: mthfr variant; variant effects; missense; shifting landscapes ... See more keywords
Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis
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DOI: 10.1016/j.celrep.2018.07.094
Abstract: Summary Dysfunction of microglia, the brain’s immune cells, is linked to neurodegeneration. Homozygous missense mutations in TREM2 cause Nasu-Hakola disease (NHD), an early-onset dementia. To study the consequences of these TREM2 variants, we generated induced… read more here.
Keywords: trem2 missense; missense mutations; pluripotent stem; induced pluripotent ... See more keywords
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants.
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DOI: 10.1016/j.ejmg.2018.01.010
Abstract: Congenital mirror movements (CMM) are involuntary movements of one side of the body that mirror intentional movements of the other side. Heterozygous missense, frameshift and nonsense variants and small intragenic deletions in DCC cause CMM,… read more here.
Keywords: missense variants; mirror movements; dcc variants; congenital mirror ... See more keywords
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish
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DOI: 10.1016/j.exer.2019.107852
Abstract: Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). We describe a novel fibrovascular proliferation in the retina of two affected members of a KCNJ13-related LCA… read more here.
Keywords: associated retinovascular; retinovascular changes; missense; conserved transmembrane ... See more keywords