research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
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research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies
Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
research A Combination of Low-Dose Systemic Etretinate and Topical Calcipotriol/Betamethasone Dipropionate Treatment for Hyperkeratosis and Itching in Olmsted Syndrome Associated with a TRPV3 Mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Interfollicular Epidermal Stem-Like Cells for the Recreation of the Hair Follicle Epithelial Compartment
Human skin cells with stem-like features can help create new hair follicles and sebaceous glands when combined with other cells.
research Cost-Effectively Dissecting the Genetic Architecture of Complex Wool Traits in Rabbits by Low-Coverage Sequencing
Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
research Molecular Genetics of Inherited Disorders of Epidermal Keratins
Mutations in keratin genes cause skin disorders, but new treatments show promise.
research Forearm Hair Density And Risk Of Keratinocyte Cancers In Australian Adults
People with denser forearm hair have a higher risk of certain skin cancers.
research Cellular Senescence in Tissue Repair: Every Cloud Has a Silver Lining
Cell aging can be both good and bad for tissue repair.
research Boosting and Rescuing Epidermal Superior Population from Fresh Keratinocyte Cultures
The method increases stem-like cells for better skin regeneration.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Analysis of 72,469 UK Biobank Exomes Links Rare Variants to Male-Pattern Hair Loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research Polycystic Ovarian Syndrome: Comprehensive Diagnosis and Treatment Approaches
The document concludes that managing PCOS requires a comprehensive approach, including lifestyle changes and medication, to improve symptoms and reduce health risks.
research Mimicking Hair Disorders by Genetic Manipulation of Organ-Cultured Human Hair Follicles
Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
research Androphenotypic Features in Patients with Coronary Artery Disease
Men with baldness, ear creases, and hairy ears have a higher risk of heart disease.
research Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Genome-Wide DNA Methylation and Transcriptome Analyses Reveal the Key Gene for Wool Type Variation in Sheep
The SOSTDC1 gene is crucial for determining sheep wool type.
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 Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research SP0227 Case 1 Presentation: Arthritis, Lupus and More. Rhupus or Polyautoimmunity?
Managing multiple autoimmune diseases in one patient is very challenging.
research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Ornithine Decarboxylase Expression in Cutaneous Papillomas in SENCAR Mice Is Associated with Altered Expression of Keratins 1 and 10
High ODC and low K1 and K10 may indicate early skin tumors in mice.
research Society for Endocrinology Guidelines for Testosterone Replacement Therapy in Male Hypogonadism
Testosterone replacement is recommended for men with low testosterone levels and symptoms of hypogonadism.
research Pallister-Killian Syndrome: A Case Study
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Efficacy of Asymmetric siRNA Targeting Androgen Receptor for the Treatment of Androgenetic Alopecia
The conclusion is that a treatment called cp-asiAR can reduce hair loss and promote hair growth, making it a potential new therapy for androgenetic alopecia.
research LO-010 Relationship Between The EULAR/ACR Classification Criteria And Organ Damage In Systemic Lupus Erythematosus
Higher EULAR/ACR scores in SLE patients predict more organ damage.
research Finasteride: The First 5α-Reductase Inhibitor
Finasteride treats enlarged prostate and baldness, but may cause limited urinary improvement and sex-related side effects.
research Expression and Distribution of the Guanine Nucleotide-Binding Protein Subunit Alpha-S in Mice Skin Tissues and Its Association with White and Black Coat Colors
The protein Gnαs is found more in black mice than white mice and may influence their coat color.