Function annotation of hepatic retinoid x receptor α based on genome-wide DNA binding and transcriptome profiling. [PDF]
, 2012 BackgroundRetinoid x receptor α (RXRα) is abundantly expressed in the liver and is essential for the function of other nuclear receptors. Using chromatin immunoprecipitation sequencing and mRNA profiling data generated from wild type and RXRα-null mouse ...
Fang, Jianwen +5 more
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Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report
Journal of Medical Case Reports, 2023 Background Hemophilia is an X-linked, recessive inherited disease caused by a defect or deficiency of one of the coagulation factors (VIII or IX). It is considered a rare disease in females.
Rawan Al khudari +3 more
doaj +1 more source
Perinatal Gene Transfer to the Liver [PDF]
, 2011 The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM +6 more
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Effects of human recombinant growth hormone on exercise capacity, cardiac structure, and cardiac function in patients with adult-onset growth hormone deficiency [PDF]
, 2017 Objective Epidemiological studies suggest that adult-onset growth hormone deficiency (AGHD) might increase the risk of death from cardiovascular causes. Methods This was a 6-month double-blind, placebo-controlled, randomised, cross-over trial followed by
Atkin, S. L. +11 more
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Riboflavin: The Health Benefits of a Forgotten Natural Vitamin [PDF]
, 2020 Riboflavin (RF) is a water-soluble member of the B-vitamin family. Sufficient dietary and supplemental RF intake appears to have a protective effect on various medical conditions such as sepsis, ischemia etc., while it also contributes to the reduction ...
Bäumler, Hans +4 more
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Orphanet Journal of Rare Diseases, 2017 Background Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann’s thrombasthenia
Arshi Naz +9 more
doaj +1 more source
Food for thought: how nutrients regulate root system architecture [PDF]
, 2017 The spatial arrangement of the plant root system (root system architecture, RSA) is very sensitive to edaphic and endogenous signals that report on the nutrient status of soil and plant.
Amtmann, Anna, Shahzad, Zaigham
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Deficiency of G1 regulators P53, P21Cip1 and/or pRb decreases hepatocyte sensitivity to TGFbeta cell cycle arrest [PDF]
, 2015 TGFbeta is critical to control hepatocyte proliferation by inducing G1-growth arrest through multiple pathways leading to inhibition of E2F transcription activity.
Bellamy, Christopher O +4 more
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Neonatal presentation of factor X deficiency
Indian Journal of Health Sciences and Biomedical Research KLEUFactor X is a Vitamin K-dependent serine protease synthesized in the liver. It is a key factor of the coagulation cascade as it is the first enzyme of a common pathway that leads to the formation of a stable fibrin clot.
Arjani Patra +3 more
doaj +1 more source
Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]
, 2014 The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia +2 more
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