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.
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research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Three-Dimensional Reconstructions of Mechanosensory End Organs Suggest a Unifying Mechanism Underlying Dynamic, Light Touch
Dynamic, light touch is sensed through a common mechanism involving Piezo2 channels in sensory axons.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Stem Cells Tightly Regulate Dead Cell Clearance to Maintain Tissue Fitness
Stem cells help remove dead cells to keep tissues healthy by balancing cell replacement and clearance.
research Lack of Concordance and Linkage Disequilibrium Among Brothers for Androgenetic Alopecia and CAG/GGC Haplotypes of the Androgen Receptor Gene in Mexican Families
No clear link between specific gene and hair loss in Mexican brothers.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research A Smart Deoxyribozyme-Based Fluorescent Sensor for In Vitro Detection of Androgen Receptor mRNA
Scientists made a sensor that can detect a specific type of RNA related to androgen receptors quickly and accurately.
research Heterozygous 21-Hydroxylase Deficiency as a Cause of Hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research RSL4 Regulatory Network Acts as an Early Driver of Root Hair Growth at Low Temperature in Arabidopsis Thaliana
A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research MTOR Signaling in Hair Follicle and Hair Diseases: Recent Progress
The mTOR signaling pathway is crucial for hair health and targeting it may lead to new hair loss treatments.
research Ageratum Conyzoides L. Extract Inhibits 5α-Reductase Gene Expression and Prostaglandin D2 Release in Human Hair Dermal Papilla Cells and Improves Symptoms of Hair Loss in Healthy Males and Females in an Open Label Pilot Study
Ageratum conyzoides L. extract may effectively and safely treat hair loss.
research Stabilization of Beta-Catenin Promotes Melanocyte Specification at the Expense of the Schwann Cell Lineage
Activating β-catenin increases melanocytes and decreases Schwann cells.
research Methylated CpG Dinucleotides in 5-Alpha Reductase 2 Gene Might Explain the Finasteride-Resistance in BPE Patients
Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.
research Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
research The Polycystic Ovary Syndrome: A Position Statement from the European Society of Endocrinology
The European Society of Endocrinology advises individualized long-term management for PCOS, focusing on lifestyle changes, accurate diagnosis, and treatments for associated health risks and symptoms.
research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition
The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
research Cutaneous Androgen Metabolism: Basic Research And Clinical Perspectives
Creating stronger blockers for skin enzymes might lead to better treatment for conditions like acne and excessive hair growth.
research The Agouti Mouse Model: An Epigenetic Biosensor for Nutritional and Environmental Alterations on the Fetal Epigenome
Diet changes can protect against harmful environmental effects on fetal development.
research In Vivo Transcriptional Governance of Hair Follicle Stem Cells by Canonical Wnt Regulators
Wnt signaling controls whether hair follicle stem cells stay inactive or regenerate hair.
research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Function and Underlying Mechanisms of Seasonal Color Molting in Mammals and Birds: What Keeps Them Changing in a Warming World?
Animals that change color with the seasons mainly do so in response to daylight changes, but climate change is causing camouflage problems that may require evolutionary changes.
research Prolactin and the Skin: A Dermatological Perspective on an Ancient Pleiotropic Peptide Hormone
Prolactin affects hair growth and skin conditions, and could be a target for new skin disease treatments.
research Cloning of Wrinkle-Free, a Previously Uncharacterized Mouse Mutation, Reveals Crucial Roles for Fatty Acid Transport Protein 4 in Skin and Hair Development
Fatty acid transport protein 4 is essential for skin and hair development.
research Testosterone Supplementation for Aging-Associated Sarcopenia
Testosterone supplements can increase muscle mass and strength in older men with low levels, but long-term effects and risks need more research.