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.
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900-930 / 1000+ resultsresearch Mechanisms of proton inhibition and sensitization of the cation channel TRPV3
Acid can block TRPV3 from outside the cell but boost its function from inside.
research An ERK-dependent molecular switch antagonizes fibrosis and promotes regeneration in spiny mice ( Acomys )
High levels of ERK activity are key for tissue regeneration in spiny mice, and activating ERK can potentially redirect scar-forming healing towards regenerative healing in mammals.
research LHX2: a transcription factor in development, homeostasis, repair, and disease
LHX2 is crucial for development, tissue repair, and preventing diseases.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research 855 Targeted deletion of crif1 in mouse skin epidermis impairs skin homeostasis
Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research AP-2α/AP-2β transcription factors are key regulators of epidermal homeostasis
AP-2α and AP-2β are crucial for healthy skin and hair.
research Keratins of the human hair follicle: “Hyperproliferative” keratins consistently expressed in outer root sheath cells in vivo and in vitro
Outer root sheath cells consistently express certain keratins influenced by their environment.
research Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation.
Keratin K14 expression varies between hair follicles and epidermis, affecting cell differentiation.
research Polymorphism of keratin-associated protein (KAP) 7 gene and its association with wool traits in Rambouillet sheep
The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.
research OR2AT4, an Ectopic Olfactory Receptor, Suppresses Oxidative Stress-Induced Senescence in Human Keratinocytes
OR2AT4 helps reduce aging and cell damage in human skin cells.
research Rps14 upregulation promotes inner ear progenitor proliferation and hair cell regeneration in the neonatal mouse cochlea
Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
research Alisertib is active as single agent in recurrent atypical teratoid rhabdoid tumors in 4 children
Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.
research ROR2 regulates self-renewal and maintenance of hair follicle stem cells
ROR2 is essential for hair follicle stem cell renewal and maintenance.
research Efficient In Vitro Transfection of Human Keratinocytes with an Adenovirus-Enhanced Receptor-Mediated System
The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Suppression of Wnt/β-catenin signaling by EGF receptor is required for hair follicle development
Blocking Wnt/β-catenin signaling with EGF receptor is necessary for proper hair growth.
research Control of androgen receptor expression in human keratinocytes and in a reconstituted human epidermis model with selective antisense oligonucleotides
Antisense oligonucleotides can reduce androgen receptor levels in skin cells, suggesting potential for treating skin disorders.
research Proteomics Characterization of Primary Human Oral Epithelial Cells Using a Novel Culture Technique for Use in Tissue Regeneration
Epithelial-derived Pop-Up Keratinocytes (ePUKs) may enhance wound healing in regenerative medicine.
research Investigation of ROP GTPase Activity and Cytoskeleton Dynamics During Tip Growth in Root Hairs and Pollen Tubes
ROP GTPase helps control the growth of pollen tubes and root hairs by managing cell structure and movement.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Histologic Compatibility Investigation of Human-hair Keratin Art ificial Tendon Transplantation in the Muscle of Rabbits
Human-hair keratin artificial tendons are biocompatible and degrade well in rabbits.
research 869 The specification of Merkel cell in the back skin and glabrous paw skin is controlled by FGFR2-meditated signaling
FGFR2 signaling controls Merkel cell formation in different skin regions.
research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms
Scientists discovered two versions of a new human hair keratin gene.
research Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues II. Concomitant and mutually exclusive synthesis of trichocytic and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix, lingual papilla, thymic reticulum)
Trichocytic cytokeratins are found in hair, nails, tongue, and thymus cells, showing complex regulation in tissue development.
research Keratinocyte Cytokine Networks Associated with Human Melanocytic Nevus Development
Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.