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Lactation, hair development and homeothermy are characteristic evolutionary features that define mammals from other vertebrate species. Here we describe the discovery of two autosomal dominant mutations with antagonistic, pleiotropic effects on all three of these biological processes, mediated through the prolactin signalling pathway. Most conspicuously, mutations in prolactin (PRL) and its receptor (PRLR) have an impact on thermoregulation and hair morphology phenotypes, giving prominence to this pathway outside of its classical roles in lactation.
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http://dx.doi.org/10.1038/ncomms6861 | DOI Listing |
J Genet Eng Biotechnol
September 2025
Department of Biology, Geology and Environmental Science, University of Tennessee at Chattanooga, 615 McCallie Ave, Chattanooga, TN 37403, USA.
Kidney Renal Clear Cell Carcinoma (KIRC) is a leading cause of cancer death worldwide, but its early detection remains hindered by a lack of genetic markers. Our study aims to find prospective biomarkers that could serve as prognostic indicators and help in the identification of efficient drug candidates for KIRC treatment. Importantly, this study identifies the hub genes that play a crucial role in KIRC and their impact on male and female patients.
View Article and Find Full Text PDFZh Vopr Neirokhir Im N N Burdenko
August 2025
Burdenko Neurosurgical Center, Moscow, Russia.
Unlabelled: Malignant transformation of fibrous dysplasia in McCune-Albright syndrome is observed in less than 1% of cases, thus osteosarcoma is developing more frequently. According to the search in the PubMed database over the last 5 years, 13 publications were found, but none of them described cerebral cranium damage.
Material And Methods: A clinical observation of a 27-year-old patient with polyostotic fibrous dysplasia, skin manifestations and prolactin+HGH-secreting pituitary adenoma - McCune-Albright syndrome - without GNAS gene mutation is described.
Front Endocrinol (Lausanne)
July 2025
Department of Neuroscience, University of Arkansas for Medical Sciences, Little Rock, AR, United States.
Introduction: Somatotropes lacking leptin receptors (LEPR) produce less growth hormone and are poorly responsive to growth hormone releasing hormone (GHRH). Transcriptomic analysis reveals that the mutant somatotropes contain progenitor cell markers (Sox9+) and multiple pituitary hormone transcripts-(, , , and ), suggesting that the cells are progenitor cells. The resulting GH deficiency contributes to adult-onset obesity in the mutant, due to an increase in abdominal fat.
View Article and Find Full Text PDFPresse Med
July 2025
Aix-Marseille University, INSERM, UMR1251, Marseille Medical Genetics, Institut MarMaRa, Marseille, France; Aix Marseille University, APHM, INSERM, MMG, Department of Endocrinology, La Conception Hospital, MarMaRa Institute, Marseille, France. Electronic address:
Pituitary deficiencies, or hypopituitarisms, are defined as insufficient production of one or more adenohypophyseal hormones (growth hormone, TSH, ACTH, LH-FSH and prolactin). Congenital hypopituitarism, a rare disease with severely disabling consequences, often takes the form of isolated hormone deficiencies, such as isolated growth hormone deficiency (GHD) or isolated ACTH deficiency (ACTHD), or combined pituitary hormone deficiencies (CPHD), when several pituitary hormones are affected. They are mainly the result of genetic mutations, developmental malformations or the harmful action of environmental factors during foetal development.
View Article and Find Full Text PDFCureus
May 2025
Medicine and Health Sciences, Tecnológico de Monterrey Mexico City Campus, Mexico City, MEX.
Prolactinomas are the most common functional pituitary adenomas in the pediatric population, though they remain rare overall. Male adolescents often present with larger and more aggressive tumors than female adolescents, with delayed symptoms such as visual disturbances, headaches, and hypogonadism due to the absence of early hormonal signs. We report the case of a 15-year-old previously healthy male patient who presented with a one-month history of severe frontal headache, followed by blurred vision and vomiting.
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