Results 51 to 60 of about 7,022 (207)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.ALDH2 polymorphisms are associated with increased risk of nephrolithiasis in humans, and Aldh2 deficiency promotes kidney stone formation in mice, especially under alcohol exposure. ABSTRACT Background Nephrolithiasis is a common urological disorder and has become a significant global public health issue.
Tao Liu +11 more
wiley +1 more source
Marfan syndrome and pituitary dwarfism [PDF]
Japanese Journal of Human Genetics, 1981 A very rare case with Marfan syndrome born from his mother with Marfan syndrome and his father with pituitary dwarfism (type I) was described. In the maternal families the consanguinity and Marfan syndrome were present. In the paternal families the consanguinity and dwarfism were present.
openaire +2 more sources
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency [PDF]
, 2014 The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the ...
Ali Oghabian +11 more
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Journal of Neuroendocrinology, Volume 38, Issue 1, January 2026.Abstract The neuroendocrine control of growth is mediated by the hypothalamic–pituitary–somatic (HPS) axis. This involves the hypothalamic release of growth hormone‐releasing hormone (GHRH), which stimulates the pituitary secretion of growth hormone (GH).
Bradley B. Jamieson
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ATRX: From Chromatin Remodeling to Disease
genesis, Volume 63, Issue 6, December 2025.ABSTRACT Chromatin remodeling proteins are evolutionarily conserved factors involved in a wide range of biological processes. In this review, we describe ATRX, a chromatin remodeling protein belonging to the SWI/SNF2 family. Its association with different protein complexes, and its roles in embryonic development, sexual differentiation, as well as ...
Mauro Magaña‐Acosta +1 more
wiley +1 more source
Abnormal corticosterone regulation in an immature rat model of continuous chronic stress. [PDF]
, 1996 Neuroendocrine correlates of chronic stress in human infants have not been established. The goal of the present study was to create an animal model of continuous chronic stress using the immature rat to measure basal plasma corticosterone, and secretion ...
Baram, TZ, Gilles, EE, Schultz, L
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MedComm, Volume 6, Issue 12, December 2025.Role of neurotransmitters in multiple pathological processes. Various neurotransmitters, including ACh, EPI, NE, 5‐HT, histamine, DA, glutamate, GABA, and neuropeptides participate in regulating key pathological events, including tumor proliferation, tumor migration, remodeling of the immune microenvironment, and the development of NDDs and ...
Gege Li +13 more
wiley +1 more source
Anthropological Review, 2015 The aim of this article was to document the pathology of the individuals from the archeological sites of Beniamin and Shirakavan I, Armenia, dated on the 1st century BC - 3rd century AD. The findings revealed that two groups differed in mean age at death
Khudaverdyan Anahit Yu.
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Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.In the present study, a de novo variant of the CSNK2A1 gene, designated c.149A>G (p.Tyr50Cys), was identified in a subject diagnosed with OCNDS by WES. The molecular mechanism by which this variant leads to a wide range of clinical phenotypes by disrupting the kinase domain function was elucidated through a combination of experimental investigation and
Xin Li +6 more
wiley +1 more source
Metabolic and hemodynamic effects of the growth hormone system — insulin-like growth factor
Терапевтический архив, 2015 Significant congenital deficiency of growth factor (GF) results in pituitary nanism (dwarfism) and its substantial excess is accompanied by the development of gigantism or acromegaly.
T A Manhylova, N H Gafarova
doaj