Molecular lesions associated with white gene mutations induced by I-R hybrid dysgenesis in Drosophila melanogaster [PDF]
, 1984 We have identified molecular lesions associated with six mutations, w(IR2) and w(IR4-8), of the white gene of Drosophila melanogaster. These mutations arose in flies subject to I-R hybrid dysgenesis.
Bucheton, A +3 more
core +1 more source
BRAF, KIT, and NRAS Mutations of Acral Melanoma in White Patients
American Journal of Clinical Pathology, 2020 Abstract Objectives Malignant acral melanoma (AM) is relatively infrequent in white patients. Molecular investigations have returned variable results regarding the mutational pattern. We sought to describe the mutation profile and clinicopathologic features of AM.
Dika, Emi +12 more
openaire +4 more sources
The role and implications of mammalian cellular circadian entrainment
FEBS Letters, EarlyView.At their most fundamental level, mammalian circadian rhythms occur inside every individual cell. To tell the correct time, cells must align (or ‘entrain’) their circadian rhythm to the external environment. In this review, we highlight how cells entrain to the major circadian cues of light, feeding and temperature, and the implications this has for our
Priya Crosby
wiley +1 more source
Cardiac manifestations of PRKAG2 mutation. [PDF]
, 2018 BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue.
Ardehali, Reza +3 more
core +1 more source
Disordered but rhythmic—the role of intrinsic protein disorder in eukaryotic circadian timing
FEBS Letters, EarlyView.Unstructured domains known as intrinsically disordered regions (IDRs) are present in nearly every part of the eukaryotic core circadian oscillator. IDRs enable many diverse inter‐ and intramolecular interactions that support clock function. IDR conformations are highly tunable by post‐translational modifications and environmental conditions, which ...
Emery T. Usher, Jacqueline F. Pelham
wiley +1 more source
Jornal de Pediatria (Versão em Português), 2013 Objective: To determine whether three variants (388 G>A, 521 T>C, and 463 C>A) of the solute carrier organic anion transporter family member 1B1 (SLCO1B1) are associated with neonatal hyperbilirubinemia.
Jiebo Liu +4 more
doaj +1 more source
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]
, 2019 Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea +28 more
core +2 more sources
Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology
Molecular Oncology, EarlyView.Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts +8 more
wiley +1 more source
ACTA2 leukovasculopathy: A rare pediatric white matter disorder
Radiology Case Reports, 2020 A 3-year-old girl presented with ataxia, dilated pupils, and behavioral change prompting work up for stroke. Her medical history included chronic mydriasis and patent ductus arteriosus requiring aortoplasty.
Tonia M. Sabo, MD +4 more
doaj +1 more source
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]
, 2020 Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam +13 more
core +3 more sources