research Data from Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin
Ribonucleotide excision repair is crucial to prevent skin cancer.
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930-960 / 1000+ resultsresearch A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research POLYCOMB REPRESSIVE COMPLEX 1 IS REQUIRED TO MAINTAIN STEM CELL IDENTITY AND TO PRESERVE ADULT TISSUE HOMEOSTASIS.
Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
research Neurotrophin-4 modulates the mechanotransducer Cav3.2 T-type calcium current in mice down-hair neurons
Neurotrophin-4 increases calcium current in specific mouse neurons through the PI3K pathway.
research Expression patterns of the glial cell line–derived neurotrophic factor, neurturin, their cognate receptors GFRα-1, GFRα-2, and a common signal transduction element c-Ret in the human skin hair follicles
Certain proteins and their receptors are more active during the growth phase of human hair and could be targeted to treat hair disorders.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research Breast cancer resistance protein identifies clonogenic keratinocytes in human interfollicular epidermis
ABCG2 protein marks stem-like skin cells in human epidermis.
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 Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Identification of llama KRTAP7-1 and KRTAP8-1 fiber genes and polymorphism screening
Mutations in specific llama genes may affect fiber quality for textiles.
research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study
The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1
Two new gene clusters important for hair formation were found on human chromosome 11.
research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
research Refractory/relapse thrombocytopenia in a patient with Evans' syndrome successfully treated with zanubrutinib
A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
research Generation of the Krt24-CreERT2 Mouse Line Targeting Outer Bulge Hair Follicle Cells
The study created a mouse model to better understand hair follicle stem cells' role in hair growth and repair.
research Integrin β1 Establishes Liver Microstructure and Modulates Transforming Growth Factor β during Liver Development and Regeneration
Integrin β1 is crucial for liver structure and function, preventing fibrosis.
research Exploring differential gene expression and biomarker potential in systemic lupus erythematosus: a retrospective study
FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
research p63 regulates Satb1 to control tissue-specific chromatin remodeling during development of the epidermis
p63 controls Satb1 to help skin develop properly.
research Expression and tissue distribution analysis of vimentin and transthyretin proteins associated with coat colors in sheep (Ovis aries)
Vimentin and transthyretin proteins are linked to black coat color in sheep.
research Thyroid hormones and androgens differentially regulate gene expression in testes and ovaries of sexually mature Silurana tropicalis
Thyroid hormones and androgens affect gene expression in frog reproductive organs differently between males and females.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research 25 years of ERβ: a personal journey
ERβ has potential in treating prostate cancer and neurodegenerative diseases, but human studies are needed before clinical use.
research 850 After skin wounding, noncoding dsRNA coordinates prostaglandins and WNT7b to promote regeneration
Double stranded RNA helps skin wounds heal by coordinating specific proteins and signaling pathways.
research Analysis of changes in microRNA expression profiles in response to the troxerutin-mediated antioxidant effect in human dermal papilla cells
research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
research THY1-mediated mechanisms converge to drive YAP activation in skin homeostasis and repair
Targeting THY1 can improve skin repair and healing.
research Ginsenoside Rb1 retards aging process by regulating cell cycle, apoptotic pathway and metabolism of aging mice
Ginsenoside Rb1 slows down aging in mice by affecting cell growth, cell death, and metabolism.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.