Results 121 to 130 of about 73,318 (285)
British Journal of Pharmacology, EarlyView.Abstract Background and Purpose Alcohol abuse and affective disorders are severe comorbid psychiatric diseases characterized by impaired brain synaptic transmission. The role of presynaptic scaffolding proteins coordinating presynaptic plasticity and neurotransmitter release, such as Bassoon (Bsn), in the pathogenesis of these disorders remains elusive.
Liubov S. Kalinichenko +14 more
wiley +1 more source
Genetic Structure of Alpha S1 Casein in Slovak Pinzgau Cattle
Scientific Papers Animal Science and Biotechnologies, 2023 The work was oriented to identification of -s1 casein gene polymorphism and analysis of genotype structure in population of Slovak Pinzgau cattle. The material involved 39 cattle.
Anna Trakovická, Michal Gábor
doaj
Clinical Genetics, EarlyView.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
Demography and the age of rare variants
, 2014 Large whole-genome sequencing projects have provided access to much of the rare variation in human populations, which is highly informative about population structure and recent demography. Here, we show how the age of rare variants can be estimated from
Mathieson, Iain, McVean, Gil
core +3 more sources
Whole Blood Transcriptomic Analysis of Sickle Cell Trait
European Journal of Haematology, EarlyView.ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson +12 more
wiley +1 more source
Colour Polymorphism in Coconut Crabs Is Under Relaxed Selection From Conspecifics?
Ethology, EarlyView.Coconut crabs are either red or blue irrespective of age or sex, are nocturnal and have very few predators. This experimental study shows that they do not use conspecific's colour but do use relative size to settle competitive interactions over food in the wild.
Tim Caro
wiley +1 more source
Interchange heterozygotes versus homozygotes [PDF]
Heredity, 1976 R J Bailey, H Rees, L M Jones
openaire +1 more source
The FEBS Journal, EarlyView.Computational modelling and in vitro liver cell experiments indicate that medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency causes an accumulation of (especially medium‐chain) acyl‐CoAs at the cost of free CoA (CoASH). A substantial decrease in CoASH impairs flux through many pathways essential for energy homeostasis.
Ligia Akemi Kiyuna +17 more
wiley +1 more source
Haemophilia, EarlyView.ABSTRACT Introduction Inhibitor development remains one of the most serious complications of replacement therapy in patients with hemophilia. Tumour necrosis factor‐alpha (TNF‐α) is a key pro‐inflammatory cytokine, and its genetic variants have been implicated in immune‐related conditions.
Alessandra Faustino da Conceição Bezerra +3 more
wiley +1 more source
Genomic Analysis of Inbreeding Depression on Productive Traits in Rubia Galega Beef Cattle Breed
Journal of Animal Breeding and Genetics, EarlyView.ABSTRACT In autochthonous livestock breeds with small populations, such as the Rubia Galega from Galicia (Spain), mating between relatives is common and can lead to inbreeding depression. Genomic inbreeding coefficients were estimated for 4984 animals using ~63,000 SNPs to assess inbreeding depression in four key traits: age at first calving (AFC) with
N. Mejuto‐Vázquez +6 more
wiley +1 more source