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   Articles with "mutation associated" as a keyword



A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.

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recommendations! 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

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recommendations! 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

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recommendations! 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

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recommendations! 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

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recommendations! 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

The IKZF1 N159S mutation is associated with poor outcome and a distinct molecular profile in adult patients with AML

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recommendations! Published in 2025 at "British Journal of Haematology"

DOI: 10.1111/bjh.20027

Abstract: IKZF1 mutations are recurrent alterations in acute myeloid leukaemia (AML), and hotspot point mutation, N159S, has recently been associated with unique gene expression and adverse risk. To better understand the molecular and clinical associations of… read more here.

Keywords: poor outcome; mutation associated; n159s mutation; ikzf1 n159s ... See more keywords
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A cardiac sodium channel mutation associated with epinephrine‐induced marked QT‐prolongation

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recommendations! 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
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F5‐Atlanta: A novel mutation in F5 associated with enhanced East Texas splicing and FV‐short production

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recommendations! 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.

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recommendations! 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

TRPV3 Mutation‐Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature

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recommendations! Published in 2025 at "Pediatric Dermatology"

DOI: 10.1111/pde.15892

Abstract: Olmsted syndrome (OS) is a rare genetic condition characterized by severe palmoplantar and periorificial keratoderma, often linked to TRPV3 gene mutations. This case report describes a 23‐month‐old Hispanic boy with TRPV3‐associated OS who initially showed… read more here.

Keywords: mutation associated; erlotinib; review literature; olmsted syndrome ... See more keywords

Identification of KRAS mutation-associated gut microbiota in colorectal cancer and construction of predictive machine learning model

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recommendations! Published in 2024 at "Microbiology Spectrum"

DOI: 10.1128/spectrum.02720-23

Abstract: ABSTRACT Gut microbiota has demonstrated an increasingly important role in the onset and development of colorectal cancer (CRC). Nonetheless, the association between gut microbiota and KRAS mutation in CRC remains enigmatic. We conducted 16S rRNA… read more here.

Keywords: kras mutation; gut microbiota; crc; mutation ... See more keywords