research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
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90-120 / 1000+ resultsresearch Female pattern hair loss—An update
Female pattern hair loss has multiple causes and treatments, with new therapies showing promise.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Medical Technologies: Pharmaceutical Cosmetology, Cosmeceuticals – Opportunities and Limitations
Cosmeceuticals effectively treat skin issues but need better regulation and safety measures.
research Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report
Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Updates to Male Infertility: AUA/ASRM Guideline (2024)
The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Are sex hormones promising candidates to explain sex disparities in the COVID-19 pandemic?
Sex hormones like estrogen and testosterone may affect COVID-19 severity differently in men and women, potentially influencing prevention and treatment strategies.
research The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015
Significant progress was made in understanding androgen excess disorders, but much is still unknown.
research The role of 3Rs in the age of One Health: where we are and where we’re going
Innovative methods are reducing animal testing and improving biomedical research.
research What does the research say about androgen use and cerebrovascular events?
Androgen use may increase the risk of stroke, but more research is needed.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Polycystic ovary syndrome: etiology, pathogenesis and diagnosis
The document concludes that PCOS is a complex disorder caused by both genetic and environmental factors, affecting women's health in various ways, and requires personalized treatment.
research Androgen Receptor Polymorphism-Dependent Variation in Prostate-Specific Antigen Concentrations of European Men
Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
research Workplace Drug Testing Using Hair Samples
Hair testing is a reliable method for detecting workplace drug use when done with proper sample preparation and confirmation.
research Screening for latent infectious disease in patients with alopecia areata before initiating JAK inhibitors therapy: a single-center real-world retrospective study
Comprehensive screening for infections is crucial before starting JAK inhibitors in alopecia areata patients.
research Genetic prediction of male pattern baldness
Genetic factors can help predict male pattern baldness risk.
research Bridging the organoid translational gap: integrating standardization and micropatterning for drug screening in clinical and pharmaceutical medicine
Standardizing and engineering organoids can improve their use in medicine and drug testing.
research Biomedical applications of organoids in genetic diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research Relationship between glucose homeostatic disorders and testosterone in adult Nigerian women with polycystic ovary syndrome
Higher testosterone levels in Nigerian women with PCOS are linked to glucose disorders like diabetes.
research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer
Certain genetic markers may increase or decrease prostate cancer risk.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Screening guidelines for thyroid function in children with alopecia areata
Children with alopecia areata should only get thyroid screening if they have Down syndrome, a family history of thyroid disease, atopy, or signs of thyroid problems.
research Severe Insulin Resistance in a Pediatric Patient: Key Areas to Address in the Screening
The case emphasizes the need for careful screening in children for insulin resistance and related conditions.
research Human Derived Immortalized Dermal Papilla Cells With a Constant Expression of Testosterone Receptor
Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.