A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02271-6
Abstract: A juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation… read more here.
Keywords: mutation associated; knockout mutation; associated juvenile; paroxysmal dyskinesia ... See more keywords
A new Chinese family with HTRA1 mutation associated with CARASIL
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-022-06071-2
Abstract: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), an autosomal recessive inherited cerebral small vessel disease (CSVD), is characterized by early adult-onset dementia with white matter lesions and multiple lacunae and is accompanied… read more here.
Keywords: family htra1; mutation associated; associated carasil; chinese family ... See more keywords
Trial to search for mitochondrial DNA mutation associated with cancer detected by massively parallel sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Forensic Science International: Genetics Supplement Series"
DOI: 10.1016/j.fsigss.2019.10.143
Abstract: Abstract Impairment of mitochondrial function has long been suspected to contribute to the generation and progression of cancer. We performed DNA analysis of blood and cancer-affected organs in patients with cancer and situs inversus, which… read more here.
Keywords: trial search; dna mutation; search mitochondrial; mutation associated ... See more keywords
Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis
Sign Up to like & getrecommendations! Published in 2022 at "Platelets"
DOI: 10.1080/09537104.2022.2091773
Abstract: Abstract The P106L mutation in the human myeloproliferative leukemia virus oncogene (MPL) was shown to be associated with hereditary thrombocythemia in Arabs. The clinical and bone marrow (BM) features of P106L mutation are unknown. Genetic… read more here.
Keywords: marrow; mutation associated; thrombocytosis; low risk ... See more keywords
Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors
Sign Up to like & getrecommendations! Published in 2018 at "British Journal of Dermatology"
DOI: 10.1111/bjd.16274
Abstract: O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet 2013; 92:895–903. 3 McMillan BJ, Zimmerman B, Egan ED et al. Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects… read more here.
Keywords: degos disease; novel pofut1; pofut1 mutation; mutation associated ... See more keywords
A cardiac sodium channel mutation associated with epinephrine‐induced marked QT‐prolongation
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Cardiovascular Electrophysiology"
DOI: 10.1111/jce.14572
Abstract: The hereditary long QT syndrome (LQTS) is an important cause of polymorphous ventricular tachycardia (torsades de pointes) and sudden cardiac death in otherwise young and healthy individuals. Clinically, this condition is caused by delayed ventricular… read more here.
Keywords: mutation associated; sodium channel; epinephrine induced; cardiac sodium ... See more keywords
F5‐Atlanta: A novel mutation in F5 associated with enhanced East Texas splicing and FV‐short production
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.15314
Abstract: Elucidating the molecular pathogenesis underlying East Texas bleeding disorder (ET) led to the discovery of alternatively spliced F5 transcripts harboring large deletions within exon 13. These alternatively spliced transcripts produce a shortened form of coagulation… read more here.
Keywords: texas; novel mutation; associated enhanced; mutation associated ... See more keywords
CACNA1S mutation-associated dental anomalies: A calcium channelopathy.
Sign Up to like & getrecommendations! Published in 2023 at "Oral diseases"
DOI: 10.1111/odi.14551
Abstract: OBJECTIVES To identify the molecular etiology of distinct dental anomalies found in eight Thai patients and explore the mutational effects on cellular functions. MATERIAL AND METHODS Clinical and radiographic examinations were performed on eight patients.… read more here.
Keywords: cacna1s; cacna1s mutation; mutation associated; dental anomalies ... See more keywords
Identification of Potential Biomarkers for Ryanodine Receptor 1 (RYR1) Mutation-Associated Myopathies Using Bioinformatics Approach
Sign Up to like & getrecommendations! Published in 2022 at "Disease Markers"
DOI: 10.1155/2022/8787782
Abstract: Background Myopathies related to Ryanodine receptor 1 (RYR1) mutation are the most common nondystrophy muscle disorder in humans. Early detection and diagnosis of RYR1 mutation-associated myopathies may lead to more timely treatment of patients, which… read more here.
Keywords: associated myopathies; mutation associated; ryr1 mutation; mutation ... See more keywords
Abstract A12: Analysis of tumor immunogenicity in germline BRCA1/2 mutation associated breast and ovarian cancers
Sign Up to like & getrecommendations! Published in 2017 at "Cancer immunology research"
DOI: 10.1158/2326-6074.tumimm16-a12
Abstract: Germline mutations in BRCA1 or BRCA 2 can lead to increased genomic instability and mutational burden in mutation-associated breast and ovarian cancer. Given the association of tumor neoepitope load and clinical response to immune checkpoint… read more here.
Keywords: associated breast; breast; mutation associated; breast ovarian ... See more keywords
Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic research"
DOI: 10.1159/000529777
Abstract: INTRODUCTION To evaluate the current management of RPE65-biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of Voretigene Neparvovec (VN, LuxturnaTM) in 2018. By July 2022, over 200 patients have been treated outside… read more here.
Keywords: rpe65 ird; mutation associated; survey; management ... See more keywords