A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.15672
Abstract: Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment… read more here.
Keywords: nonsense variant; caused dominant; tpm4 caused; variant tpm4 ... See more keywords
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report
Sign Up to like & getrecommendations! Published in 2017 at "BMC Medical Genetics"
DOI: 10.1186/s12881-017-0430-7
Abstract: BackgroundAccording to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1… read more here.
Keywords: variant; isoform specific; case; nonsense variant ... See more keywords
PMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvac150.1293
Abstract: Abstract Introduction XYdisorders of sex development (DSD) result from variants in many different human genes but frequently have no detectable molecular cause. In approximately 25% of cases of XY DSD, the index case may have… read more here.
Keywords: nonsense variant; sex development; sec31a; sec31a gene ... See more keywords
A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals
Sign Up to like & getrecommendations! Published in 2020 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009028
Abstract: Idiopathic hypocalcemia in Thoroughbred (TB) foals causes tetany and seizures and is invariably fatal. Based upon the similarity of this disease with human familial hypoparathyroidism and occurrence only in the TB breed, we conducted a… read more here.
Keywords: hypoparathyroidism; rapgef5; affected foals; thoroughbred foals ... See more keywords
Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling
Sign Up to like & getrecommendations! Published in 2022 at "Physiological Reports"
DOI: 10.14814/phy2.15265
Abstract: Heterozygous missense variants of the cardiac ryanodine receptor gene (RYR2) cause catecholaminergic polymorphic ventricular tachycardia (CPVT). These missense variants of RYR2 result in a gain of function of the ryanodine receptors, characterized by increased sensitivity… read more here.
Keywords: variant ryr2; calcium handling; calcium; nonsense variant ... See more keywords
TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand
Sign Up to like & getrecommendations! Published in 2022 at "Emerging Infectious Diseases"
DOI: 10.3201/eid2811.220914
Abstract: A heterozygous nonsense variant in the TIGIT gene was identified in a patient in Thailand who had severe COVID-19, resulting in lower TIGIT expression in T cells. The patient’s T cells produced higher levels of… read more here.
Keywords: severe covid; tigit monoallelic; thailand; nonsense variant ... See more keywords
Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.919411
Abstract: Here, we present the findings of an investigation involving two male siblings with juvenile total tooth loss, early-onset chronic leg ulcers, and autoimmune thyroiditis, as well as focal segmental glomerulosclerosis with associated pulmonary emphysema in… read more here.
Keywords: nonsense variant; phenotype; hemizygous nonsense; immunodeficiency ... See more keywords
PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14061210
Abstract: A female Lagotto Romagnolo dog with polycystic kidney disease (PKD) and her progeny, including PKD-affected offspring, were studied. All affected dogs appeared clinically inconspicuous, while sonography revealed the presence of renal cysts. The PKD-affected index… read more here.
Keywords: nonsense variant; lagotto romagnolo; pkd1; polycystic kidney ... See more keywords