Results 81 to 90 of about 544,097 (312)
Distribution of Recessive Genetic Defect Carriers in Holstein Friesian Cattle: A Polish Perspective
AnimalsGenetic disorders are caused by a hereditary change in the structure of DNA that may hurt the health and life of animals. Several recessive haplotypes and a few causative mutations are known in Holstein Friesian cattle: CDH (Holstein cholesterol ...
Marta Gozdek +4 more
doaj +1 more source
Complement genetics, deficiencies, and disease associations [PDF]
Protein & Cell, 2012 The complement system is a key component of innate immunity. More than 45 genes encoding the proteins of complement components or their isotypes and subunits, receptors, and regulators have been discovered. These genes are distributed throughout different chromosomes, with 19 genes comprising three significant complement gene clusters in the human ...
openaire +2 more sources
FEBS Letters, EarlyView.Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho +3 more
wiley +1 more source
, 2015 Citrin deficiency: an infant incidentally detected by phenylketonuria screening with a novel mutation in SLC25A13 gene: We report the first Turkish patient with citrin deficiency detected incidentally by phenylketonuria screening.
Erkan, T. +5 more
core
A Large PROP1 Gene Deletion in a Turkish Pedigree
Case Reports in Endocrinology, 2018 Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and
Suheyla Gorar +2 more
doaj +1 more source
Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?
FEBS Letters, EarlyView.This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes +3 more
wiley +1 more source
Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency
, 2023 Coagulation factor VII (proconvertin) is one of the proteins starting the blood coagulation cascade. Plasma FVII concentration is regulated by different factors.
Olesya Pshenichnikova +5 more
core +1 more source
Dihydrolipoamide dehydrogenase deficiency in two unrelated Tunisian children
BMC PediatricsBackground Dihydrolipoamide dehydrogenase deficiency (DLDD) (OMIM# 246,900) is an extremely rare inherited metabolic disorder causing neurological and/or liver impairment.
Hajer Aloulou +8 more
doaj +1 more source
International Journal of Bio-Resource and Stress Management, 2020 Genetic disorder is an inborn genetic abnormalities in animals that is due to mutation in genes which are quite rare and recessive in nature. Propagation of mutated alleles constitute a danger whose negative effect often become evident only after ...
Ankit Magotra +3 more
doaj
Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation
FEBS Letters, EarlyView.Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe +3 more
wiley +1 more source