research Evolution of Hard Proteins in the Sauropsid Integument in Relation to the Cornification of Skin Derivatives in Amniotes
Hard skin features like scales, feathers, and hair evolved through specific protein changes in different animal groups.
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research Altered Methylation Pattern of the SRD5A2 Gene in the Cerebrospinal Fluid of Post-Finasteride Patients: A Pilot Study
Finasteride affects SRD5A2 gene pattern, possibly causing lasting side effects.
research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Human Type 3 5α-Reductase Is Expressed in Peripheral Tissues at Higher Levels Than Types 1 and 2 and Its Activity Is Potently Inhibited by Finasteride and Dutasteride
Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.
research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene
Researchers found a new mutation causing total hair loss from birth.
research Spontaneous Fertility in a Male Patient with Testotoxicosis Despite Suppression of FSH Levels
A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research GWAS for Male-Pattern Baldness Identifies 71 Susceptibility Loci Explaining 38% of the Risk
Researchers found 71 genetic regions linked to male pattern baldness, which account for 38% of its genetic risk.
research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Therapeutic Potential of Patient iPSC-Derived Melanocytes in Autologous Transplantation
Patient-derived melanocytes can potentially treat vitiligo by restoring skin pigmentation.
research Tumor Necrosis Factor-Alpha and Polycystic Ovarian Syndrome: A Clinical, Biochemical, and Molecular Genetic Study
High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
research Relationship of Early-Onset Baldness to Prostate Cancer in African-American Men
Early-onset baldness is linked to a higher risk of aggressive prostate cancer in African-American men, especially before age 60.
research Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angioedema
The conclusion suggests a new way to classify bradykinin-mediated angio-oedema based on different causes and its possible link with urticaria, which could improve diagnosis and treatment.
research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research From Bedside to Bench: Regulation of Host Factors in SARS-CoV-2 Infection
The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research The Role of Histone Demethylases in Disease
Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
research Characterization of Mouse Profilaggrin: Evidence for Nuclear Engulfment and Translocation of the Profilaggrin B-Domain During Epidermal Differentiation
Mouse profilaggrin helps in skin cell differentiation and may be involved in calcium signaling.
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 An Essential Role for RXRα in the Development of Th2 Responses
RXRα is crucial for proper immune response and links diet to immune function.
research Effect of Dietary Methylsulfonylmethane Supplementation on Growth Performance, Hair Quality, Fecal Microbiota, and Metabolome in Ragdoll Kittens
MSM supplementation in kittens improves hair quality and growth rate without harming their health.
research New Frontiers in CRISPR/Cas9 Delivery Systems for Gene Editing
Efficient delivery systems are needed for the clinical use of CRISPR-Cas9 gene editing.
research Prostate Cancer and Androgenic Alopecia
The document suggests more research is needed to understand the link between baldness and prostate cancer.
research Identification of Long Noncoding RNAs in Mouse Hair Follicle Stem Cells Using Computational Methods
Scientists found new and known long non-coding RNAs in mouse hair follicle stem cells that may be important for stem cell function and could be targets for cancer treatment.
research Automated Machine Learning Analysis of Patients With Chronic Skin Disease Using a Medical Smartphone App: Retrospective Study
Machine learning can predict symptoms and quality of life in chronic skin disease patients using smartphone app data, and shows that app use varies with patient characteristics.
research Quantitative Single-Cell Approaches to Stem Cell Research
New single-cell analysis techniques are improving our understanding of stem cells and could help in treating diseases.