research Decision letter: Structural basis of malodour precursor transport in the human axilla
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
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810-840 / 1000+ resultsresearch Morphological and functional analysis on M3R mediated sweating in TSC1 k/o mouse
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
research Exosomal miR-222-3p derived from dermal papilla cells inhibits melanogenesis in melanocytes by targeting SOX10 in rabbits
Exosomal miR-222-3p reduces melanin production in rabbits by targeting the SOX10 gene.
research Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner
research NRF2 coordinates ferroptosis and disulfidptosis in dermal papilla cells via redox metabolic reprogramming in androgenetic alopecia
research 167 Epidermal GRK2 knockout triggers a hair loss phenotype with features resembling immune-mediated alopecias
Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
research Aberrant Wnt Signaling Induces Comedo-Like Changes in the Murine Upper Hair Follicle
Overactive Wnt signaling in mouse skin stem cells causes acne-like cysts and shrinking oil glands, which some treatments can partially fix.
research The Rho GTPase exchange factor Vav2 promotes extensive age-dependent rewiring of the hair follicle stem cell transcriptome
Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
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 Mapping the expression of epithelial hair follicle stem cell‐related transcription factors LHX 2 and SOX 9 in the human hair follicle
LHX2 and SOX9 identify unique hair follicle cell groups, crucial for hair maintenance.
research Differential Expression of Genes Encoding a Cysteine-Rich Keratin Family in the Hair Cuticle
research ARHGEF3 Regulates Hair Follicle Morphogenesis
ARHGEF3 is essential for proper hair follicle development.
research Abnormal differentiation of epidermis in transgenic mice constitutively expressing cyclooxygenase-2 in skin
Overexpression of COX-2 in mice skin causes abnormal skin and hair development.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia
Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
research Cleave but not leave: Astrotactin proteins in development and disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research 1373 Specific in vivo ablation of Lrig1-positive follicular stem cells results in sebaceous gland loss in mice
Removing Lrig1-positive stem cells in mice causes temporary loss of sebaceous glands.
research Genetic effects of vascular endothelial growth factor and its receptor 2 on feather maturity in three chicken breeds
VEGF and VEGFR-2 genes influence feather maturity, and specific genetic markers can improve chicken breeding.
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
research Tumor suppressor activity of ODC antizyme in MEK-driven skin tumorigenesis
Antizyme slows skin tumor growth by reducing cell growth in mice.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research DHT deficiency perturbs the integrity of the rat seminiferous epithelium by disrupting tight and adherens junctions
DHT deficiency can disrupt cell connections in rat testes, possibly affecting fertility.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.