research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
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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 A Short Report on Melanocyte/Melanoma Culture, Senescence, and Reproducibility
Clear documentation and shared best practices are essential for improving research consistency in pigment cells.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research From the Microscopic Sweat Gland to Large Datasets: The Power of Quantitative Traits in Dermatology
Using quantitative traits in genetics can improve understanding and management of skin health and conditions.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research GWASs Identify Genetic Loci Associated with Human Scalp Hair Whorl Direction
Certain genes influence the direction of hair whorls on the scalp.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research Two-Stage Machine Learning-Based GWAS for Wool Traits in Central Anatolian Merino Sheep
Machine learning can effectively identify genes to improve wool quality in sheep.
research Author response: ETS family transcriptional regulators drive chromatin dynamics and malignancy in squamous cell carcinomas
ETS2 is crucial in squamous cell carcinoma development and could be a therapeutic target.
research Stimulation of ectodermal organ development by Ectodysplasin-A1
Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research JAK inhibition decreases the autoimmune burden in Down syndrome
JAK inhibition may help manage autoimmune conditions in Down syndrome.
research Lichen Planopilaris-Like Changes Arising within an Epidermal Nevus: Does This Case Suggest Clues to the Etiology of Lichen Planopilaris?
Microorganism overgrowth and hyperkeratosis may trigger immune reactions causing lichen planopilaris.
research DEVELOPMENT OF A DESMOCOLLIN-3 ACTIVE MOUSE MODEL RECAPITULATING HUMAN ATYPICAL PEMPHIGUS
Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.
research A modified FLIT-B model of trigeminal neuralgia reveals anterior cingulate cortex involvement in anxiety-like behavior in mice
Inhibiting certain brain neurons may reduce pain and anxiety in trigeminal neuralgia.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Roles of Nutritional Selenium in Mouse Aging and Age‐related Degenerations
Selenium deficiency worsens aging symptoms in mice.
research Macrophage Related Chronic Inflammation in Non-Healing Wounds
Macrophage issues cause chronic wound inflammation, but therapies can help.
research In Vitro Differences Between Keratinocyte Stem Cells and Transit-Amplifying Cells of the Human Hair Follicle
Hair follicle stem cells have greater longevity and adhesion, while transit-amplifying cells are more mobile.
research Criteria for Diagnosis of Polycystic Ovary Syndrome during Adolescence: Literature Review
Diagnose PCOS in teens using irregular periods and high androgen levels, not ultrasound.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research PandaOmics: An AI-Driven Platform for Therapeutic Target and Biomarker Discovery
PandaOmics uses AI to find new disease treatment targets and biomarkers.
research Commitment of Oral-Derived Stem Cells in Dental and Maxillofacial Applications
Oral-derived stem cells can effectively regenerate bone and tissues in dental procedures.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.