research Detection of a Novel Missense Mutation in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
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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 Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues
The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.
research Is Polymorphism of the STK11 Gene a Predictor of Response to Metformin in Polycystic Ovarian Syndrome?
STK11 gene polymorphism does not predict metformin response in PCOS.
research Are STK11 Polymorphisms a Predictor of the Response to Metformin in Polycystic Ovarian Syndrome?
STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research Case Report: NUDT15 Polymorphism and Severe Azathioprine-Induced Myelosuppression in a Young Chinese Female with Systemic Lupus Erythematosus: A Case Analysis and Literature Review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research One of These Things Is Not Like the Others: The Idea of Precedence in Health Technology Assessment and Coverage Decisions
The conclusion is that formalizing how past decisions influence current health technology assessments could improve the credibility and defense of coverage decisions.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Focal Neurotoxicity Associated With Topical 5-Fluorouracil
Topical 5-Fluorouracil can rarely cause nerve damage, especially in people with a certain genetic deficiency.
research Changes in Minoxidil Prescribing After Media Attention About Oral Use for Hair Loss
After a New York Times article talked about using low-dose oral minoxidil for hair loss, more people started getting this drug prescribed, but this trend didn't last long.
research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
research Development of an Ex Vivo Human Skin Explant Model to Examine Candidate Gene Functions in the Hair Follicle and Epidermis
The model can effectively test gene functions and drug responses in human skin.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Vitamin D Receptor-Mediated Control of Soggy, Wise, and Hairless Gene Expression in Keratinocytes
Vitamin D receptor helps control hair growth genes in skin cells.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Hormonal Regulation in Male Androgenetic Alopecia: Sex Hormones and Beyond - Evidence from Recent Genetic Studies
Hormones and genes affect hair growth and male baldness.
research TLR2 Regulates Hair Follicle Cycle and Regeneration via BMP Signaling
TLR2 is important for hair growth and can be targeted to treat hair loss.
research Deep Learning-Based Dermatological Condition Detection: A Systematic Review With Recent Methods, Datasets, Challenges, and Future Directions
Deep learning helps detect skin conditions and is advancing dermatology diagnosis and treatment.
research Alopecia Areata: Genetic and Immunological Insights
Understanding the immune-related causes of Alopecia Areata has led to potential treatments like JAK inhibitors.
research Integrated miRNA-mRNA Analysis Reveals Regulatory Pathways Underlying the Curly Fleece Trait in Chinese Tan Sheep
Researchers found genes and microRNAs that control curly fleece in Chinese Tan sheep.
research TLR2 Regulates Hair Follicle Cycle and Regeneration via BMP Signaling
TLR2 helps control hair growth and regeneration, and its reduction with age or obesity can impair hair growth.
research A Cross-Sectional Study of Clinical, Dermoscopic, Histopathological, and Molecular Patterns of Scalp Melanoma in Patients With or Without Androgenetic Alopecia
Scalp melanoma is more common and easier to diagnose early in people with androgenetic alopecia due to sun damage.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.