research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
Search
for
Sort by
Research
690-720 / 1000+ results research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Towards Defining the Pathogenesis of the Hairless Phenotype
The hairless gene mutation causes baldness by disrupting hair follicle structure.
research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Ectopic Expression of the nude Gene Induces Hyperproliferation and Defects in Differentiation: Implications for the Self-Renewal of Cutaneous Epithelia
The nude gene causes skin cell overgrowth and improper development, leading to hair and urinary issues.
research Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle
Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
research Efficient delivery of transgenes to human hair follicle progenitor cells using topical lipoplex
research 131 Mutational landscape of extramammary Paget disease
The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
research Gene Editing Technologies in Aesthetic Dermatology—Mechanisms, Emerging Applications, and Patient Safety Paradigms
Gene editing holds promise for skin treatments but needs careful safety and ethical consideration.
research Expression of a dominant negative mutant of epidermal growth factor receptor in the epidermis of transgenic mice elicits striking alterations in hair follicle development and skin structure.
Blocking EGFR in mice causes hair loss and skin changes.
research Engineering a New Mouse Model for Vitiligo
A new mouse model for vitiligo helps study immune responses and potential treatments.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Roles of p38- and c-jun NH2-terminal kinase-mediated pathways in 2-methoxyestradiol-induced p53 induction and apoptosis
2-Methoxyestradiol causes cancer cell death by activating specific pathways, but androgens can block this effect.
research Comparison of the acute ultraviolet photoresponse in congenic albino hairless C57BL /6J mice relative to outbred SKH 1 hairless mice
B6.Cg-Tyr c−2J Hr hr /J mice have a stronger delayed sunburn reaction and are good for UV research.
research Redox-directed interventions targeting skin photodamage
Some treatments can improve skin's defense against damage, but overuse may cause other skin problems.
research Spatiotemporal control of CRISPR/Cas9 gene editing
The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.
research Utilizing functional genomics approaches to characterize risk genes in alopecia areata
Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.
research The effect of proteolytic enzymes on hair follicles of transgenic mice expressing the lac Z‐protein in cells of the bulge region
Proteolytic enzymes damage hair follicles by detaching stem cells.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Protein Kinase Cε, which Sensitizes Skin to Sun's UV Radiation–Induced Cutaneous Damage and Development of Squamous Cell Carcinomas, Associates with Stat3
Protein Kinase Cε increases skin sensitivity to UV damage and skin cancer risk.
research 778 Designing and utilizing a c-Rel specific bioassay in drug repurposing screen for HNSCC
A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Optimisation of a Murine Infection Model With Trichophyton mentagrophytes for Studying the Pathogenesis of Dermatophytosis
The study developed a successful mouse model to study skin infections, highlighting the importance of choosing the right fungal strains.
research Il-10 family members as novel responders to genotoxic stress
IL-19 and IL-24 help cells respond to DNA damage and could be targeted for cancer and age-related disease treatments.
research Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice
Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
research Studies of E2s Related to Unconventional Ubiquitination in Arabidopsis thaliana
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.