Results 111 to 120 of about 1,366 (166)

Multi-Omics Deciphers Divergent Mechanisms in Differentially Cardiac-Remodeled Yili Horses Under Conditions of Equivalent Power Output

open access: yesAnimals
Exercise performance is a critical trait for evaluating the economic and breeding value of working and athletic horses, with cardiac structure and function serving as essential physiological determinants of athletic capacity.
Tongliang Wang   +8 more
doaj   +1 more source

Metabolomics analysis and mRNA/miRNA profiling reveal potential cardiac regulatory mechanisms in Yili racehorses under different training regimens.

open access: yesPLoS ONE
Yili horses, a versatile breed from Xinjiang, China, are renowned for their racing abilities. However, studies on the links between cardiac morphology, function, and metabolic profiles with performance are limited.
Tongliang Wang   +10 more
doaj   +1 more source

The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia

open access: yesHaematologica, 1998
Pyridoxine-responsive, X-linked sideroblastic anaemia (XLSA) has been shown to be caused by missense mutations in the erythroid-specific ALA synthase gene, ALAS2. These are scattered widely across the part of the gene encoding the catalytic domain and in
A May, DF Bishop
doaj  

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.

open access: yes, 2000
X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinic acid synthase (ALAS2) gene. An elderly woman who presented with an acquired sideroblastic anemia is studied.
CAZZOLA, MARIO   +5 more
core  

Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.

open access: yesAmerican journal of blood research, 2014
GATA-1, an X-linked gene, encodes a transcription factor that plays a role in erythropoiesis and megakaryopoiesis. GATA-1 mutations have been associated with various diseases, such as X-linked thrombocytopenia. ALAS2 is an X-linked erythroid-specific isoenzyme expressed during erythropoiesis.
Bhavya S, Doshi   +3 more
openaire   +1 more source

mRNA Biomarkers in Dried Blood Spots May Improve Detection of Autologous Blood Micro-Transfusions Using an Individualized Approach

open access: yes
Autologous blood transfusions (ABTs) are prohibited by the World Anti-Doping Agency (WADA), yet detecting autologous blood micro-transfusions (ABMTs) remains a challenge.
Bejder, Jacob   +7 more
core   +1 more source

mRNA biomarkers sensitive and specific to micro-dose erythropoietin treatment at sea level and altitude

open access: yes
Recombinant human erythropoietin (rhEPO) is prohibited by the World Anti-Doping Agency. rhEPO abuse can be indirectly detected via the athlete biological passport (ABP). However, altitude exposure challenges interpretation of the ABP.
Baastrup Nordsborg, Nikolai   +15 more
core   +1 more source

The Molecular Basis Underlying Heme Biosynthesis Dysfunction and Disease Originating from C-Terminal Mutations in Aminolevulinic Acid Synthase

open access: yes
Aminolevulinic acid synthase (ALAS) is a conserved heme biosynthetic enzyme that catalyzes the first, rate-limiting step of heme biosynthesis in non-plant eukaryotes and alphaproteobacteria.
Taylor, Jessica
core  

Iron Regulatory Protein-1 Protects against Mitoferrin-1-deficient Porphyria.

open access: yes, 2014
Mitochondrial iron is essential for the biosynthesis of heme and iron-sulfur ([Fe-S]) clusters in mammalian cells. In developing erythrocytes, iron is imported into the mitochondria by MFRN1 (mitoferrin-1, SLC25A37).
Eisenstein, Richard S   +25 more
core  

Growth hormone increases ALAS2, the rate-limiting enzyme of Hbb in male rat hippocampus [PDF]

open access: yesEndocrine Abstracts, 2016
Marion Walser   +4 more
openaire   +1 more source

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