research CRISPR/Cas9‐mediated loss of FGF5 function increases wool staple length in sheep
Disabling the FGF5 gene in sheep leads to longer wool.
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research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Rare and common genetic determinants of metabolic individuality and their effects on human health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations
Male mice with FGF5 mutations grow longer hair than females.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Hirsutism Beyond PCOS: Genome-wide Evidence for Genetic Factors
Genetic factors, including a variant near the FGF5 gene, contribute to hirsutism and are linked to PCOS and metabolic traits.
research Discovery of Four New FGF5 Variants Causing Long Hair in the Dog
Four new FGF5 gene variants cause long hair in dogs.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice
Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
research Genetic Prediction of Male Pattern Baldness
Genetic factors can predict male pattern baldness risk.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research Circulating androgen regulation by androgen-catabolizing gut bacteria in male mouse gut
Certain gut bacteria can lower androgen levels in male mice.
research Lineage Commitment of Dermal Fibroblast Progenitors is Mediated by Chromatin De-repression
Skin cell types develop when specific genes are turned on by removing certain chemical tags from DNA.
research Transcriptomic Analysis of Human Skin Wound Healing and Rejuvenation Following Ablative Fractional Laser Treatment
Ablative fractional laser treatment rejuvenates aged skin by activating genes related to wound healing and tissue regeneration.
research GTL1 is required for a robust root hair growth response to avoid nutrient overloading
GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Comparative spatial transcriptomics of hair follicle-T cell interactions in mouse, dog and human reveals conserved drivers of primary cicatricial alopecia
Potential therapeutic targets for scarring hair loss are identified.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
Genetic testing is crucial for diagnosing rare hair loss disorders.
research A 3D microtumour system that faithfully represents ovarian cancer minimal residual disease
The study developed a 3D model that closely imitates remaining ovarian cancer after treatment and identified a potential drug targeting resistant cancer cells.
research A novel fracture lattice in spiny mouse skin facilitates tissue autotomy and regeneration
Spiny mice have a unique skin structure that helps them heal and regenerate quickly.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Mediator 1 ablation induces enamel-to-hair lineage conversion through enhancer dynamics
Removing Mediator 1 causes teeth cells to turn into hair cells.
research Hyperactivation of sympathetic nerves drives depletion of melanocyte stem cells
Stress can cause hair to turn gray by depleting stem cells.
research Evidence that Myc activation depletes the epidermal stem cell compartment by modulating adhesive interactions with the local microenvironment
Myc activation reduces skin stem cells by affecting cell adhesion.
research Hair follicle immune privilege and its collapse in alopecia areata
Hair follicles are normally protected from the immune system, but when this protection fails, it can cause hair loss in alopecia areata.
research Development of Heritable Melanoma in Transgenic Mice
The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.