research [Construction and identification of mouse model with conditional knockout of p75 neurotrophin receptor gene in epidermal cells by Cre-loxP system].
Removing the p75 gene in mouse skin cells didn't affect their skin or hair growth.
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research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research Cyclic hair-loss and regrowth in transgenic mice overexpressing an intermediate filament gene.
Mice with extra sheep genes had hair that fell out and regrew in cycles.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research c-Myc activation in transgenic mouse epidermis results in mobilization of stem cells and differentiation of their progeny
c-Myc activation in mouse skin increases sebaceous gland growth and affects hair follicle development.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease
Basal cell carcinomas need extra mutations to grow from small to large tumors.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research Transgenic mice overexpressing protein kinase C epsilon in their epidermis exhibit reduced papilloma burden but enhanced carcinoma formation after tumor promotion.
Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Localization and Expression of Cornifin-α/SPRR1 in Mouse Epidermis, Anagen Follicles, and Skin Neoplasms
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteins
A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
research A new species ofAplodontopus(Acari: Astigmata: Chortoglyphidae) from the yellow-bellied marmot,Marmota flaviventris(Rodentia: Sciuridae) in Eastern Washington, USA, with observations on its pathology
Researchers found a new mite species causing severe hair loss and skin problems in yellow-bellied marmots.
research Polymorphic CAG repeat numbers in the androgen receptor gene of female pattern hair loss patients
Longer CAG repeats in gene linked to more severe hair loss in females.
research Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner
research The role of cathepsin E in terminal differentiation of keratinocytes
Cathepsin E is crucial for normal skin cell differentiation and development.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research An Ultra-high Sulfur Keratin Gene is Expressed Specifically During Hair Growth
research Association of the KAP 8.1 Gene Polymorphisms with Fibre Traits in Inner Mongolian Cashmere Goats
KAP8.1 gene variations affect cashmere weight in Inner Mongolian goats.
research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research Connexin mutations in human disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin.
Too much keratin 16 in mice skin causes abnormal skin thickening and structure.