Results 91 to 100 of about 159,600 (311)

The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia

open access: yesHaematologica, 2011
The germ-line loss-of-function VHLR200W mutation is common in Chuvashia, Russia and occurs in other parts of the world. VHLR200W homozygotes have elevated hypoxia inducible factor (HIF)-1 and HIF-2 levels, increased hemoglobin concentration, propensity ...
Galina Y. Miasnikova   +8 more
semanticscholar   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell   +3 more
wiley   +1 more source

Next generation complex genome assembly

open access: yesJulius-Kühn-Archiv, 2016
Whole genome assembly boosts the discovery of genes and pathways involved in the key metabolites produced in medicinal plants. Many medicinal plants possess large, polyploid and/or heterozygote genomes, thus denovo assembly of these genomes poses a ...
Baruch, Kobi   +3 more
doaj   +1 more source

Improving sequence-based genotype calls with linkage disequilibrium and pedigree information

open access: yes, 2012
Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases.
Whittemore, Alice S., Zhou, Baiyu
core   +1 more source

Peach Kernel Oil Modulates Lipid Metabolism Disorder in ApoEa CRISPR/Cas9 Gene‐Disrupted Zebrafish

open access: yesFood Frontiers, EarlyView.
In this study, we used CRISPR/Cas9 gene editing technology to establish a lipid metabolism disorder model of ApoEa mutant zebrafish. We applied peach kernel oil to this model and studied the mechanism of peach kernel oil regulating lipid disorder in combination with transcriptomics.
Lei Xia   +14 more
wiley   +1 more source

The Frequency of Factor V Leiden, Prothrombin G20210A and Methylenetetrahydrofolate Reductase C677T Mutations in Migraine Patients

open access: yesTürk Nöroloji Dergisi, 2010
OBJECTIVE: Migraine is an independent risk factor for ischemic stroke, but its pathophysiology is still unclear. Genetic factors that predispose patients to thrombosis have been studied in patients with migraine to highlight the pathogenesis, but the ...
Ruhsen Öcal   +6 more
doaj   +2 more sources

Potential inbreeding in a small population of a mass flowering species, Xanthorrhoea johnsonii (Xanthorrhoaceae): is your mother my father? [PDF]

open access: yes, 2012
Xanthorrhoea johnsonii is a long lived slow growing perennial understorey species, that produces a large quantity of passively dispersed seed every 3-5 years. Reproductive maturity is not reached until 20-30 years of age.
King, Rachel, Zalucki, Jacinta M.
core   +1 more source

Penetrance interactions of colour pattern loci in the African Monarch and their implications for the evolution of dominance

open access: yesEcology and Evolution
Scoring the penetrance of heterozygotes in complex phenotypes, like colour pattern, is difficult and complicates the analysis of systems in which dominance is incomplete or evolving.
Richard H. ffrench‐Constant   +4 more
doaj   +1 more source

Genotyping of mannose-binding lectin (MBL2) codon 54 and promoter alleles in Egyptian infants with acute respiratory tract infections

open access: yesEgyptian Journal of Medical Human Genetics, 2014
Background: MBL2 gene polymorphisms affect serum concentration of mannose-binding lectin and are associated with infectious conditions. Acute respiratory tract infections are among the most prevalent infections in childhood with the highest incidence ...
Rabah M. Shawky   +4 more
doaj   +1 more source

Uncovering the role of genetic polymorphisms in cervical insufficiency

open access: yesInternational Journal of Gynecology &Obstetrics, EarlyView.
Pathways and genes implicated in CI pathogenesis. Abstract Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid‐trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks.
Kallirhoe Kalinderi   +3 more
wiley   +1 more source

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