research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
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300-330 / 1000+ resultsresearch Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research A temperature-sensitive FERONIA mutant allele that alters root hair growth
A mutant FERONIA gene affects root hair growth at high temperatures.
research Removing all obstacles: A critical role for p53 in promoting tissue renewal
The gene p53 is crucial for removing damaged cells to allow for healthy tissue renewal.
research Rare and common genetic determinants of metabolic individuality and their effects on human health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles
HoxC genes are crucial for normal hair and nail development.
research Are sex hormones promising candidates to explain sex disparities in the COVID-19 pandemic?
Sex hormones like estrogen and testosterone may affect COVID-19 severity differently in men and women, potentially influencing prevention and treatment strategies.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Evolution of Trichocyte Keratins
Hair keratins evolved from ancient proteins, diversifying through gene changes, crucial for forming claws and later hair in mammals.
research Androgen Receptor Actions Modify Skin Structure and Chemical Carcinogen-induced Skin Cancer Susceptibility in Mice
Androgen receptor inactivation delays skin cancer onset and reduces incidence in mice, with gender differences in susceptibility.
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 Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse
Reduced plakoglobin and steroid abuse increase the risk of heart rhythm issues.
research Stimuli-responsive nanoformulations for CRISPR-Cas9 genome editing
Advancements in nanoformulations for CRISPR-Cas9 genome editing can respond to specific triggers for controlled gene editing, showing promise in treating incurable diseases, but challenges like precision and system design complexity still need to be addressed.
research Molecular Evolution and Protein Structure Variation of Dkk Family
Dkk genes evolved faster in birds and reptiles, affecting hair development functions.
research SNP variation in male pattern hair loss in Russians with different dihydrotestosterone levels
Certain gene variations increase male hair loss risk, influenced by hormone levels.
research The Multifaceted Functions of TRPV4 and Calcium Oscillations in Tissue Repair
TRPV4 helps cells repair tissue and reduce scarring by controlling calcium levels.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Antioxidant and Antiproliferative Activity of Finasteride against Glioblastoma Cells
High-dose finasteride may help treat glioblastoma but needs localized delivery for effectiveness.
research Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Agouti and Agouti-related Protein: Analogies and Contrasts
Agouti and AGRP affect pigmentation and obesity, with implications for metabolic disorders.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Hair keratin KRT81 is expressed in normal and breast cancer cells and contributes to their invasiveness
The hair keratin gene KRT81 is found in both normal and breast cancer cells and helps them invade surrounding tissues.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Comparative Spatial Transcriptomic and Single-Cell Analyses of Human Nail Units and Hair Follicles Show Transcriptional Similarities between the Onychodermis and Follicular Dermal Papilla
Human nails and hair follicles have similar gene activity, especially in the cells that contribute to their growth and development.