research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
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research Two Parietal Cephaloceles In A Female Neonate
A baby girl had two brain-related growths removed and is developing normally.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Endocannabinoids Limit Excessive Mast Cell Maturation And Activation In Human Skin
Endocannabinoids help control mast cell activity in human skin.
research Delayed Epidermal Permeability Barrier Formation and Hair Follicle Aberrations in Inv-Cldn6 Mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
research Foxp1 Regulates the Proliferation of Hair Follicle Stem Cells in Response to Oxidative Stress During Hair Cycling
Foxp1 helps control hair stem cell growth and response to stress during hair growth cycles.
research Rapamycin But Not Acarbose Decreases Age-Related Loss of Outer Hair Cells in the Mouse Cochlea
Rapamycin reduces age-related hearing cell loss in mice, but acarbose does not.
research Diagnostic Imaging in Congenital Adrenal Hyperplasia: How Does It Help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research Distinct Mechanisms for Sebaceous Gland Self-Renewal and Regeneration Provide Durability in Response to Injury
Sebaceous glands can heal and regenerate after injury using their own stem cells and help from hair follicle cells.
research The Transcriptional Regulator Prdm1 Is Essential for the Early Development of the Sensory Whisker Follicle and Is Linked to the Beta-Catenin First Dermal Signal
Prdm1 is necessary for early whisker development in mice but not for other hair, and its absence changes nerve and brain patterns related to whiskers.
research Col4a2-eGFP Mouse Model Reveals the Molecular and Functional Dynamics of Basement Membrane Remodelling in Hair Follicle Morphogenesis
Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Overview of the Circadian Clock in the Hair Follicle Cycle
The circadian clock plays a key role in hair growth and its disruption can affect hair regeneration.
research The Alopecia Areata Phenotype Is Induced by the Water Avoidance Stress Test in CCHCR1-Deficient Mice
Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Pathways to Inflammation: Acne Pathophysiology
Acne is caused by genetics, diet, hormones, and bacteria, with treatments not yet curative.
research Morphogenesis, Growth Cycle, and Molecular Regulation of Hair Follicles
Hair growth and health are influenced by factors like age, environment, and nutrition, and are controlled by various molecular pathways. Red light can promote hair growth, and understanding these processes can help treat hair-related diseases.
research Genetic Basis of Polycystic Ovary Syndrome
The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Helpful Diagnostic Markers of Steroidogenesis for Defining Hyperandrogenemia in Hirsute Women
The study concluded that androstendione and DHEA are important for diagnosing high male hormone levels in women with excessive hair growth.
research Endoplasmic Reticulum in Health and Disease: The 12th International Calreticulin Workshop, Delphi, Greece
The workshop discussed the role of a protein called calreticulin in health and disease, its potential as a treatment target, and its possible use as a disease marker.
research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Spatial Gene Profiling in the Ischemic Heart
A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
research The Role of Candidate Pharmacogenetic Variants in Determining Valproic Acid Efficacy, Toxicity, and Concentrations in Patients with Epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Author Response: Plant Trans-Golgi Network/Early Endosome pH Regulation Requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for pH balance and normal cell function in plants.
research Decision Letter: Plant Trans-Golgi Network/Early Endosome pH Regulation Requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for ion balance and proper plant cell function.
research Editor's Evaluation: Plant Trans-Golgi Network/Early Endosome pH Regulation Requires Cation Chloride Cotransporter (CCC1)
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
research Post-Implantation Erythema
Post-implantation erythema is a red skin condition after medical device implantation that sometimes goes away on its own.
research Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.