Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.

This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.

This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.

Low dose finasteride causes only minor changes in PSA levels in men over 50 with BPH.

This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.

This study found that using 3D total body imaging with convolution neural networks accurately identifies risk phenotypes for melanoma, suggesting improved objective stratification for early detection and prevention.

This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.

This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.

This review discusses forensic DNA phenotyping, focusing on male pattern baldness and its prediction through SNP markers, but reports no new results.

This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.

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 covers recent developments in materials for in vitro and in vivo stem cell manipulation, highlighting innovative substrate properties but does not report new experimental results.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.

This review discusses the use of the zebrafish lateral line system as a model to study hair cell loss, protection, and regeneration, with potential implications for human hearing research.

This review discusses the integration of drug repurposing with personalized medicine through off-label prescribing and reports no new results, highlighting the potential for systematic exploration using omics technologies.

This study found that among reproductive-age women across India, there was a high prevalence of PCOS, with phenotype C being predominant and most women exhibiting metabolic abnormalities, highlighting the importance of integrating PCOS management into national health strategies.

This study found that the S. epidermidis A/C lineage is more pathogenic due to its metabolic and genomic versatility, which allows it to adapt quickly from a commensal to a pathogenic lifestyle.

This study found that spironolactone reduced fish fecundity and caused masculinization of females at certain concentrations, while having no effect on Daphnia magna reproduction, underscoring concerns for environmental exposure to vertebrates.

This review discusses medical interventions that reproductive health experts can provide to transgender and gender diverse youth and reports no new clinical results.

This article discusses the need for a globally standardized protocol for epidemiologic studies of polycystic ovary syndrome to improve study comparability and public health policy.

This systematic review and meta-analysis found 30 genetic loci associated with skin ageing phenotypes, noting shared biological pathways in aspects like pigmentation and wrinkling; researchers suggest further studies targeting the same SNP across populations could clarify these associations.

This article outlines methods to study the skin and its molecular traits, focusing on interpretation and techniques applicable to mouse models, including diverse assays and approaches like electron microscopy and large-scale lipid analyses.

This study reviews the transformative role of artificial intelligence in biomaterial design, highlighting its ability to reduce costs through virtual screening, enhance material performance, and predict biological interactions to advance personalized and precision medicine.

This study introduces a spherical skin model that effectively mimics key features of human skin, offering a scalable and rapid alternative for non-animal dermatological and cosmetic testing.

This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.

The research observed that among Ecuadorian Andean women with polycystic ovary syndrome, classical phenotypes A and B were more prevalent and associated with higher risks of insulin resistance and metabolic disorders compared to phenotypes C and D.

In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.

This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.

This workshop review from the Australian Hair and Wool Research Society discusses findings in cutaneous biology and endocrinology but presents no new research results.