research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
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research The character “hairless” in the mouse
Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.
research Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research Ectodysplasin research—Where to next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
research Biochemistry of epidermal stem cells
The review found that different stem cell types in the skin are crucial for repair and could help treat skin diseases and cancer.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
Mutations in β1 integrins cause embryonic death but have milder effects on skin.
research Use of Induced Pluripotent Stem Cells in Dermatological Research
iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
research Stem Cell Competition for Niche Occupancy: Emerging Themes and Mechanisms
Stem cells compete for space using cell adhesion, and mutations can affect their competitive success, with implications for tissue health and disease.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research High-resolution structures of mutants of residues that affect access to the ligand-binding cavity of human lipocalin-type prostaglandin D synthase
Mutations in the enzyme don't significantly change how it binds to its specific substances.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
research Hair for brain trade-off, a metabolic bypass for encephalization
Human hair loss may have evolved to help increase brain size.
research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
The ASIP gene is crucial for determining cattle coat color.
research Tradescantia-Based Test Systems Can Be Used for the Evaluation of the Toxic Potential of Harmful Algal Blooms
Tradescantia plants can effectively test for the toxicity of harmful algae.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
research Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits
A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes (Hospitalization and Surgery)
Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
research 738 Cryo-EM and molecular dynamics of TRPV3 channel in activated state reveal structural features implicated in severe itch and hyperkeratosis
The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.
research Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment
Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
research Two females with hair loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research QuantAnts machines discover biomarkers for RAS signaling activation and design sgRNAs for CRISPR to target complex CD9, CD34, and CD74.
The QuantAnts machines can find cancer markers and create CRISPR targets for them.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
Improved genetic diagnosis of PCOS can lead to better patient outcomes.