research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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390-420 / 1000+ resultsresearch Severe follicular hyperplasia and spontaneous papilloma formation in transgenic mice expressing theneu oncogene under the control of the bovine keratin 5 promoter
ErbB2 signaling is crucial for skin cell growth and cancer development in mice.
research 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath
A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
research Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice
Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
research Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
research A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue
A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research Engineering a New Mouse Model for Vitiligo
A new mouse model for vitiligo helps study immune responses and potential treatments.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Mitogen‐regulated protein/proliferin mRNA induction following single applications of tumor promoters to murine skin
mrp/plf-mRNA can indicate tumor-promoting effects in skin.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
Researchers found a gene mutation responsible for a rare hair loss condition.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Detection of Bim and Puma in mouse hair follicles using immunofluorescence and TUNEL assay double staining
Bim and Puma proteins are found in developing mouse hair follicles and are involved in more than just cell death.
research Microphthalmic-associated transcription factor integrates melanocyte biology and melanoma progression.
Mitf plays a key role in melanoma progression and is linked to disease stage.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Spatiotemporal Labeling of Melanocytes in Mice
The research showed how melanocytes develop, move, and respond to UV light, and their stem cells' role in hair color and skin cancer risk.
research Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
A new gene mutation causes long hair in some Maine Coon cats.
research Modeling of chronic radiation-induced cystitis in mice
Researchers developed a mouse model that successfully mimics the bladder damage seen in humans after radiation therapy.
research 1123 COPPER LOADING (CuL) STUDIES IN BRINDLED (Br) MOUSE HEMIZYGOTES AND HETEROZYGOTES
Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research A Window into Mammalian Basement Membrane Development: Insights from themTurq2-Col4a1Mouse Model
The mTurq2-Col4a1 mouse model shows that cells can divide while attached to stable basement membranes during development.
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.