Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. [PDF]
, 2019 Background and purposeThe objective of this study was to longitudinally investigate the trajectory of change in 1 H MRS measurements in asymptomatic MAPT mutation carriers who became symptomatic during follow-up, and to determine the time at which the ...
Boeve, Bradley F +22 more
core +3 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
Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]
, 2015 Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina +6 more
core +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
doaj +1 more source
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
Mutations in pathways depending on BRCA1 and BRCA2 may increase cancer risks from an environmental carcinogen [PDF]
, 2011 Recently, the President’s Cancer Panel [2008-2009] protested that preventive action is not taken when uncertainty exists about potential harm from a chemical, because the US regulatory approach demands that a hazard be incontrovertibly ...
Bernard Friedenson
core +2 more sources
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
doaj +1 more source
Presence of the ABCB1 (MDR1) deletion mutation causing ivermectin hypersensitivity in certain dog breeds in Belgium [PDF]
, 2009 Hypersensitivity to ivermectin and certain other drugs in Collies and related breeds is caused by a 4-base pair deletion mutation in the ABCB1 gene, better known as the MDR1 gene, encoding P-glycoprotein.
Daminet, Sylvie +9 more
core +2 more sources
Mapping the evolution of mitochondrial complex I through structural variation
FEBS Letters, EarlyView.Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin +2 more
wiley +1 more source