Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51531
Abstract: CAPN1‐associated hereditary spastic paraplegia (SPG76) is a rare and clinically heterogenous syndrome due to loss of calpain‐1 function. Here we illustrate a translational approach to the case of an 18‐year‐old patient who first presented with… read more here.
Keywords: novel capn1; missense variants; spastic paraplegia; hereditary spastic ... See more keywords
An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26359
Abstract: Collier/Olf/EBF (COE) transcription factors have distinct expression patterns in the developing and mature nervous system. To date, a neurological disease association has been conclusively established for only the Early B‐cell Factor‐3 (EBF3) COE family member… read more here.
Keywords: missense variants; risk; finger domain; zinc finger ... See more keywords
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26485
Abstract: Rare inherited missense variants in SLC32A1, the gene that encodes the vesicular gamma‐aminobutyric acid (GABA) transporter, have recently been shown to cause genetic epilepsy with febrile seizures plus. We aimed to clarify if de novo… read more here.
Keywords: slc32a1 cause; missense variants; novo missense; variants slc32a1 ... See more keywords
Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.1002/gcc.23042
Abstract: As an essential regulator of DNA damage, ataxia‐telangiectasia mutated (ATM) gene has been widely studied in oncology. However, the independent effects of ATM missense variants and protein‐truncating variants (PTVs) on neoplasms have not been heavily… read more here.
Keywords: protein truncating; level; missense variants; 694 biobank ... See more keywords
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23359
Abstract: Hereditary spastic paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by gradual spasticity and weakness of the lower limbs. SPG56 is a rare autosomal recessive early onset complicated form of… read more here.
Keywords: cyp2u1 activity; hereditary spastic; missense variants; spastic paraplegia ... See more keywords
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23366
Abstract: Fanconi anemia (FA) is a rare recessive DNA repair deficiency resulting from mutations in one of at least 22 genes. Two‐thirds of FA families harbor mutations in FANCA. To genotype patients in the International Fanconi… read more here.
Keywords: missense variants; fanca variants; fanconi anemia; comprehensive approach ... See more keywords
von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24204
Abstract: von Willebrand disease (VWD), the most prevalent congenital bleeding disorder, arises from a deficiency in von Willebrand factor (VWF), which has crucial roles in hemostasis. The present study investigated functional consequences and underlying pathomolecular mechanisms… read more here.
Keywords: missense variants; von willebrand; willebrand factor;
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
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency
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DOI: 10.1002/humu.24432
Abstract: Premature ovarian insufficiency (POI) is a leading form of female infertility, characterised by menstrual disturbance and elevated follicle‐stimulating hormone before age 40. It is highly heterogeneous with variants in over 80 genes potentially causative, but… read more here.
Keywords: poi; p63; tp63; missense variants ... See more keywords
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12309
Abstract: Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as recessive HADH mutations cause congenital… read more here.
Keywords: functional evaluation; missense variants; evaluation schad; hyperinsulinism infancy ... See more keywords
TET2 missense variants in human neoplasia. A proposal of structural and functional classification
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.772
Abstract: The human TET2 gene plays a pivotal role in the epigenetic regulation of normal and malignant hematopoiesis. Somatic TET2 mutations have been repeatedly identified in age‐related clonal hematopoiesis and in myeloid neoplasms ranging from acute… read more here.
Keywords: missense variants; tet2; structural functional; variants human ... See more keywords