research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
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150-180 / 1000+ resultsresearch Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Intermittent Low-dose Ritlecitinib in Refractory Paediatric Alopecia Areata: A Case Report with Therapeutic Implications
Low-dose Ritlecitinib may help children with stubborn Alopecia Areata.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research TOWARDS NOVEL DIAGNOSTIC MARKER BASED ON BREAST ARTERIAL CALCIFICATIONS
Detecting early breast arterial calcifications can help assess cardiovascular disease risk.
research Smart Diagnostic System for Health Risk Assessment
WomenCare helps predict PCOD risk in women to encourage early medical consultation.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research Generation of Genetically Modified Rats Using CRISPR/Cas9 Genome-Editing System to Reveal Novel Vitamin D Actions
Genetically modified rats help reveal how vitamin D affects bone and skin health.
research 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 c-Kit - The Novel Receptor: Physiological Roles, Downstream Signaling and Implications in Cancer
c-Kit is important for heart regeneration and cancer development.
research Central Centrifugal Cicatricial Alopecia
CCCA is a common, scarring hair loss in Black women that needs early detection.
research Targeting cardiac hypertrophy through a nuclear co‐repressor
Targeting NCoR1 can help treat heart enlargement and dysfunction.
research A New Assessment Method of Vitiligo by Combination of Dermoscopy and Reflectance Confocal Microscopy
The new method combining dermoscopy and Reflectance Confocal Microscopy is more effective for evaluating vitiligo.
research 1329 CENPV is a novel CYLD-interacting molecule regulating ciliary acetylated tubulin
CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
research Patient Considerations when Using Ritlecitinib for Alopecia Areata in Adolescents: Guidance for the Clinicians
Clinicians should consider individual factors and communicate risks and benefits when prescribing ritlecitinib for adolescent alopecia areata.
research 3212 Isolated basilar artery reversible cerebral vasoconstriction syndrome associated with finasteride and vaping
RCVS should be considered in thunderclap headaches, and MRA and DSA are better for diagnosis than CT angiogram.
research Obesity resistance of the stearoyl-CoA desaturase-deficient (scd1 -/-) mouse results from disruption of the epidermal lipid barrier and adaptive thermoregulation
Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Genetic Fate Mapping Using Site-Specific Recombinases
The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Detection of circular RNA expression and related quantitative trait loci in the human dorsolateral prefrontal cortex
Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
research ROR2 regulates self-renewal and maintenance of hair follicle stem cells
ROR2 is essential for hair follicle stem cell renewal and maintenance.
research Radiesse
Radiesse is a versatile facial injectable used for cosmetic improvements and long-term collagen production, with careful dosing needed to prevent complications.
research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research Atualização em Coriorretinopatia Serosa Central
CSC is linked to mineralocorticoid receptor damage, stress, and steroid use, with treatments including drugs and laser therapies to prevent eye damage.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Extrapulmonary disorders associated with Rhodococcus equi infection in foals: 150 cases (1987–2007)
Foals with Rhodococcus equi infection often have other health problems that lower their chances of survival.
research Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report
MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
research The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII)
Intravenous and oral calcium effectively treated vitamin D dependent rickets type II, improving growth and bone health.
research REV7: a small but mighty regulator of genome maintenance and cancer development
REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.