research EP-2271: The role of mitochondria in the non-targeted effect of ionizing radiation
Mitochondria may influence how cells respond to radiation, affecting nearby non-irradiated cells.
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720-750 / 1000+ results research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Receptor tyrosine kinase Kit action in skin melanocytes: is it exclusively cell autonomous?
KIT's role in skin cells is not entirely independent, as other cells can influence its function.
research An eGFP-Col4a2 mouse model reveals basement membrane dynamics underlying hair follicle morphogenesis
Basement membrane changes are crucial for hair follicle development.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Intracellular protons accelerate aging and switch on aging hallmarks in mice
Acid inside cells speeds up aging and turns on aging signs in mice.
research Molecular mechanisms of Y chromosome loss and UTY gene activity
Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
research Visualising Androgen Receptor Activity in Male and Female Mice
Androgen receptors are active in many tissues of both male and female mice, not just reproductive organs.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research The Role of gp91phox and the Effect of Tranexamic Acid Administration on Hair Color in Mice
Tranexamic acid turns white hair brown in certain mice by affecting specific proteins.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research 026 Altered Skin Wound Healing in Homeobox Gene Msx-2 Knockout Mice
Msx-2 gene removal speeds up skin wound healing in mice.
research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15
research Highly Upregulated Lhx2 in the Foxn1−/− Nude Mouse Phenotype Reflects a Dysregulated and Expanded Epidermal Stem Cell Niche
The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Role of foxn1 in Xenopus laevis thymopoiesis.
FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
research The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse
Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is essential for proper hair structure and color.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research The alopecia areata phenotype is induced by the water avoidance stress test in cchcr1-deficient mice
Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
research Delineation of Matriptase Protein Expression by Enzymatic Gene Trapping Suggests Diverging Roles in Barrier Function, Hair Formation, and Squamous Cell Carcinogenesis
Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
research In the quest to stymie time, will laboratory data stand up in man?
Genetic manipulations that extend lifespan in mice may not work as effectively in humans.
research MEX3A regulates Lgr5 + stem cell maintenance in the developing intestinal epithelium
MEX3A is crucial for maintaining intestinal stem cells in mice.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.