Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.

This review discusses the roles of glucocorticoids and glucocorticoid receptors, and it explores potential genetic and non-genetic causes of glucocorticoid resistance or hypersensitivity syndromes, reporting no new clinical results.

Glucocorticoid receptors help regulate genes important for skin health and hair growth.

This study evaluated genetic differences in hair loss patients from Romania and Brazil, finding that specific gene variations were more common in Brazilian patients. The researchers suggest certain drugs may be more effective based on these genetic markers, but most genes showed no population differences.

In this study, DNA analysis of patients with androgenetic alopecia and alopecia areata indicated potential differences in treatment response based on genetic makeup across Romanian and Brazilian populations, notably involving genes like GR-alpha and SULT1A1, which may guide personalized treatment strategies.

This study provides insight into AR-mediated gene activation and the molecular mechanisms of prostate cancer progression and drug resistance, identifying potential avenues for developing new therapies.

ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.

This study found that mutant glucocorticoid receptors have defective transcriptional activity and dynamic motility issues in the nucleus, likely due to impaired interactions with nuclear molecules necessary for gene activation.

This paper describes the hGRα gene structure and its expression, focusing on the functional properties of the longest GRα isoform, but reports no new results.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

This study found that many effects previously thought to be caused by circadian rhythm disruption in Bmal1 knockout mice are actually due to BMAL1's properties unrelated to its clock function.

This review summarizes the clinical features and molecular causes of Primary Generalized Glucocorticoid Resistance, highlighting new findings from the characterization of mutations in the NR3C1 gene, but reports no new experimental results.

This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.

This review discusses the manifestations of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency across different life stages, but reports no new findings.

This review discusses the structure and function of steroid nuclear receptors, particularly focusing on androgen receptor dysregulation in prostate cancer and androgen insensitivity syndromes, without reporting new experimental results.

This review discusses sex differences in the neuroendocrine response to stress, focusing primarily on rodent studies, and highlights open questions about the roles of gonadal hormones and sex chromosomes.

This study found that megestrol acetate increases the proliferation, migration, and adipogenic differentiation of adipose-derived stem cells through glucocorticoid receptor phosphorylation.

This study found that androgen impacted glucocorticoid signaling in the mouse brain only in the prefrontal cortex and substantia nigra, suggesting limited interaction between these hormones at high corticosterone levels.

This study found that in spiny mice, the proximal side of ear wounds is crucial for regeneration, a process possibly linked to unique injury-induced immune responses compared to nonregenerative rodents.

This study found that the AMHR2-482A>G gene polymorphism is associated with an increased likelihood of polycystic ovary syndrome and altered hormone levels in affected women.

In this study, cedrol was found to reduce lipid accumulation in the liver and adipose tissues of dexamethasone-treated mice by antagonizing glucocorticoid receptors, suggesting its potential utility in treating dexamethasone-induced lipid metabolism disorders.

This study identified three novel genetic loci associated with PCOS and found similar genetic architecture across different diagnostic criteria, with evidence suggesting genetic links between PCOS and various metabolic and psychological traits.

This study found that expression and variants of the KRT84 gene are associated with important wool traits in Gansu Alpine Fine-wool sheep, suggesting its potential use as a genetic marker for wool trait selection.

This review explains the genetic diversity of sheep wool keratin-associated protein genes and explores how this variation might be leveraged for selective breeding to enhance wool fiber traits.

This review examines the genetic challenges in improving wool and cashmere fibers, emphasizing the need for further research on wool keratins and keratin-associated proteins to enhance fiber characteristics.

This review discusses the role of keratin-associated proteins in the growth and characteristics of wool and hair fibres from sheep and goats, and highlights areas for future research, but it presents no new findings.

This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.

In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.

This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.

PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.