Results 51 to 60 of about 1,584,900 (350)

Genetic regulation of pituitary gland development in human and mouse [PDF]

open access: yes, 2009
Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...
Aarskog   +321 more
core   +2 more sources

Function annotation of hepatic retinoid x receptor α based on genome-wide DNA binding and transcriptome profiling. [PDF]

open access: yes, 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
core   +5 more sources

Perinatal Gene Transfer to the Liver [PDF]

open access: yes, 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
core   +1 more source

Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report

open access: yesJournal 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

Effects of human recombinant growth hormone on exercise capacity, cardiac structure, and cardiac function in patients with adult-onset growth hormone deficiency [PDF]

open access: yes, 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
core   +1 more source

Riboflavin: The Health Benefits of a Forgotten Natural Vitamin [PDF]

open access: yes, 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
core   +1 more source

Factor X Deficiency and Pregnancy [PDF]

open access: yesLaboratory Medicine, 2003
©Factor X deficiency is a rare disorder, with only 50 cases reported to date. There are only a few published case reports of women with Factor X deficiency undergoing successful pregnancy, each with a unique clinical course and approach to management. In this case report, we review the literature on Factor X deficiency and pregnancy.
Arti Hurria   +3 more
openaire   +1 more source

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

open access: yesOrphanet 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

Deficiency of G1 regulators P53, P21Cip1 and/or pRb decreases hepatocyte sensitivity to TGFbeta cell cycle arrest [PDF]

open access: yes, 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
core   +1 more source

Neonatal presentation of factor X deficiency

open access: yesIndian Journal of Health Sciences and Biomedical Research KLEU
Factor 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

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