research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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690-720 / 1000+ resultsresearch Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research 476 Development of an intrinsic skin sensor for blood glucose level with CRISPR-mediated genome editing in epidermal stem cells
Researchers created a skin graft that senses blood glucose and could treat diabetes using CRISPR-edited stem cells.
research TCDD-induced activation of aryl hydrocarbon receptor regulates the skin stem cell population
TCDD disrupts skin stem cells, causing skin issues like chloracne.
research Corticotropin-Releasing Factor Down-Regulates Hair Growth-Related Cytokines in Cultured Human Dermal Papilla Cells
CRF can cause hair loss, but blocking its receptors might prevent this.
research Expression of retinoid-X receptors (-Æ,-a,-a) and retinoic acid receptors (-Æ,-a,-a) in normal human skin: an immunohistological evaluation
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
research Conditional expression of the ErbB2 oncogene elicits reversible hyperplasia in stratified epithelia and up-regulation of TGFα expression in transgenic mice
research Cedrol from Platycladus orientalis (L.) Franco regulates M1/M2 polarization of macrophages and promotes hair regeneration
Cedrol promotes hair growth better than baricitinib by regulating immune cells.
research Crosslinking Between Trichocyte Keratins and Keratin Associated Proteins
research Dermal EZH2 orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell development and hair growth in mice.
research 218 Chemokine receptor CCR5 is the novel target for the treatment of alopecia areata
Blocking the CCR5 receptor may be a new way to treat hair loss from alopecia areata.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Cytoplasmic Ca2+ concentrations in intact Merkel cells of an isolated, functioning rat sinus hair preparation
research Genomewide analysis of copy number variants in alopecia areata in a C entral E uropean cohort reveals association with MCHR 2
MCHR2 gene duplications may be linked to alopecia areata.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Role of the ACTH/MC2R System in the Hair Cycle in Mice
The ACTH/MC2R system is crucial for controlling hair growth cycles in mice.
research Corticotropin releasing factor-1 receptor antagonism associated with favorable outcomes of male reproductive health biochemical parameters
Blocking CRF1 receptors improved male hormone levels and reduced testicular tumor size in men with a specific adrenal condition.
research Human gene correlation analysis (HGCA): A tool for the identification of transcriptionally co-expressed genes
The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research P25 ELF5 regulation of normal skin development and homeostasis
ELF5 is essential for skin cell growth and maintenance.
research 0866 Role of transcriptional elongation in dermal fat development
Nelfb is essential for dermal fat development and survival.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research 1347 Updated skin transcriptomic atlas depicted by reciprocal contribution of single-nucleus RNA sequencing and single-cell RNA sequencing
The research updated the skin cell profile, finding new skin cell markers and showing fibroblasts' key role in skin health.
research eLife assessment: CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
research Inhibition of 17α-hydroxylase/C17,20 lyase reduces gating deficits consequent to dopaminergic activation
Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.
research Deletion of an Enhancer in FGF5 is Associated With Ectopic Expression in Goat Hair Follicles and the Cashmere Growth Phenotype
A genetic variant in goats is linked to cashmere growth.
research Twist1 is required for the development of UVB‐induced squamous cell carcinoma
Twist1 is crucial for UVB-induced skin cancer development.