Comparative transcriptomic analysis unveils interactions between the regulatory CarS protein and light response in Fusarium [PDF]
, 2019 Background The orange pigmentation of the agar cultures of many Fusarium species is due to the production of carotenoids, terpenoid pigments whose synthesis is stimulated by light.
Limón Mirón, María del Carmen +5 more
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, 2020 We describe and investigate a connection between the topology of isolated singularities of plane curves and the mutation equivalence, in the sense of cluster algebra theory, of the quivers associated with their morsifications.Comment: Major revision and ...
Fomin, Sergey +3 more
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A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel [PDF]
Genes, 2017 While the typical Arabian camel is characterized by a single colored coat, there are rare populations with white spotting patterns. White spotting coat patterns are found in virtually all domesticated species, but are rare in wild species. Theories suggest that white spotting is linked to the domestication process, and is occasionally associated with ...
Heather Holl +8 more
openaire +2 more sources
Brain and Behavior, 2021 The homozygous LAMC3 gene mutation is associated with severe bilateral smoothening and thickening of the lateral occipital cortex . Despite this and further significant changes in gray matter structure, a patient harboring this mutation exhibited a range
Pinar Demirayak +10 more
doaj +1 more source
Large-scale structural alteration of brain in epileptic children with SCN1A mutation
NeuroImage: Clinical, 2017 Objective: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy ...
Yun-Jeong Lee +9 more
doaj +1 more source
Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w) ) and mottled (mo) plumage phenotypes in the chicken. [PDF]
PLoS ONE, 2014 A mutation that confers white plumage with black eyes was identified in the Minohiki breed of Japanese native chicken (Gallus gallus domesticus). The white plumage, with a few partially pigmented feathers, was not associated with the tyrosinase gene, and
Keiji Kinoshita +8 more
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The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]
, 2013 Frontotemporal lobar degeneration (FTLD) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction.
Calo, Laura +14 more
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Sporadic white sponge nevus caused by a mutation in the keratin 4 gene
Oral and Maxillofacial Surgery Cases, 2020 Herein, we present a sporadic case of white sponge nevus (WSN) on the cheek mucosa in a 27-year-old Japanese man. A definite diagnosis of WSN was obtained using the typical clinical appearance and microscopic features of the lesions.
Harusachi Kanazawa +5 more
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Frontiers in Cardiovascular Medicine, 2022 IntroductionGenomic screening is an informative and helpful tool for the clinical management of inherited conditions such as cardiac diseases. Cardiac-inherited diseases are a group of disorders affecting the heart, its system, function, and vasculature.
Santiago Cadena-Ullauri +8 more
doaj +1 more source
Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy [PDF]
, 2006 Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder characterized by loss of cardiomyocytes and their replacement by adipose and fibrous tissue.
Asimaki, A +11 more
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