research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
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research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Forensic DNA Phenotyping: Male Pattern Baldness: Traditional Review
DNA markers can help predict male pattern baldness, useful in criminal and missing person cases.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research A review for cell-based screening methods in drug discovery
Cell-based screening methods are useful and cost-effective for drug discovery but have pros and cons.
research New substrates for stem cell control
New materials help control stem cell growth and specialization for medical applications.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Drug repositioning: current approaches and their implications in the precision medicine era
Drug repositioning is becoming more targeted and efficient with new technologies, offering personalized treatment options and growing interest in the field.
research Prevalence, Phenotypes, and Comorbidities of Polycystic Ovary Syndrome Among Indian Women
PCOS is common among Indian women, often with metabolic issues, needing better management strategies.
research Distinct Phenotypic and Genomic Signatures Underlie Contrasting Pathogenic Potential of Staphylococcus epidermidis Clonal Lineages
Staphylococcus epidermidis A/C strains are more antibiotic-resistant and infection-adapted, while B strains thrive in hair follicles.
research Cross-species sensitivity to a novel androgen receptor agonist of potential environmental concern, spironolactone
Spironolactone harms fish reproduction and is more potent in fish than invertebrates, needing environmental monitoring.
research Medical Options for Care of Gender Diverse and Transgender Youth
Early medical support for transgender youth is important for their health, with low regret for gender-affirming hormone use and a need for knowledgeable care providers.
research The pressing need for standardization in epidemiologic studies of PCOS across the globe
The article concludes that global standardization in PCOS research is crucial for accurate diagnosis and understanding of the condition.
research Genetic determinants of skin ageing: a systematic review and meta-analysis of genome-wide association studies and candidate genes
Certain genes are linked to skin aging, like wrinkles and pigmentation changes.
research Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
research AI-driven biomaterial design: an intelligent closed loop from reverse design to biological response
AI improves biomaterial design by making it faster, cheaper, and more effective for personalized medicine.
research Spherical Skin Model: Stratified Co‐Culture of Fibroblasts and Keratinocytes on Spherical Beads Toward Compound Screening
The Spherical Skin Model improves drug and cosmetic testing by accurately mimicking human skin for efficient compound screening.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
Classical PCOS types A and B are most common and linked to higher health risks.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Australian Hair and Wool Research Society Cutaneous Biology and Endocrinology Workshop
The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
research Weakly supervised learning of biomedical information extraction from curated data
The method can effectively extract biomedical information without needing expert annotation, performing better than previous models.
research Induction of hair follicle dermal papilla cell properties in human induced pluripotent stem cell-derived multipotent LNGFR(+)THY-1(+) mesenchymal cells
Researchers found a way to create cells from stem cells that act like human cells important for hair growth and could be used for hair regeneration treatments.
research Pro‐Regenerative Hydrogel Restores Scarless Skin during Cutaneous Wound Healing
A special hydrogel helps heal skin without scars and regrows hair.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research A Genome-Wide Association Study and Machine-Learning Algorithm Analysis on the Prediction of Facial Phenotypes by Genotypes in Korean Women
The model accurately predicts skin conditions in Korean women using genetic information, aiding personalized skincare.
research Multidisciplinary screening and diagnosis of obesity related diseases: an Arabic Association for the Study of Diabetes and metabolism position statement (AASD)
BMI is a simple, cost-effective tool for screening obesity and related diseases.