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   Articles with "missense" as a keyword



A Recurrent EIF2AK2 Missense Variant Causes Autosomal‐Dominant Isolated Dystonia

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recommendations! Published in 2021 at "Annals of Neurology"

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

Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic

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recommendations! Published in 2024 at "Genes"

DOI: 10.1002/gcc.23221

Abstract: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant cancer predisposition syndrome characterized by cutaneous leiomyomas, uterine leiomyomas, and aggressive renal cancer. Germline variants in the fumarate hydratase (FH) gene predispose to HLRCC.… read more here.

Keywords: cancer; missense; missense variant; fumarate hydratase ... 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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recommendations! Published in 2020 at "Human Mutation"

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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recommendations! Published in 2022 at "Human Mutation"

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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recommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"

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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recommendations! Published in 2017 at "Methods in molecular biology"

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

Critical assessment of missense variant effect predictors on disease-relevant variant data

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recommendations! Published in 2025 at "Human Genetics"

DOI: 10.1007/s00439-025-02732-2

Abstract: Regular, systematic, and independent assessments of computational tools that are used to predict the pathogenicity of missense variants are necessary to evaluate their clinical and research utility and guide future improvements. The Critical Assessment of… read more here.

Keywords: missense variant; missense; critical assessment; variant effect ... See more keywords

Potential pathogenetic role of a novel ABCC8 missense variant on both transient neonatal diabetes mellitus and fetal growth restriction: a case report

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recommendations! Published in 2024 at "Molecular Biology Reports"

DOI: 10.1007/s11033-024-09668-2

Abstract: The diagnosis of neonatal diabetes can be problematic in preterm infants with fetal growth restriction (FGR). Growth restricted fetuses may have impaired insulin production and secretion; low birthweight infants may have a reduced response to… read more here.

Keywords: variant; missense; fetal growth; neonatal diabetes ... See more keywords

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

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recommendations! 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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recommendations! Published in 2020 at "American Journal of Human Genetics"

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
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Shifting landscapes of human MTHFR missense-variant effects

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recommendations! Published in 2021 at "American Journal of Human Genetics"

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