research Gene expression profiling analysis reveals fur development in rex rabbits (Oryctolagus cuniculus)
Gene expression affects fur development in rex rabbits.
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90-120 / 1000+ resultsresearch Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Whole-transcriptome analysis reveals the profiles and roles of coding and non-coding RNAs during hair follicle cycling in Rex rabbits
Key genes and RNA networks regulate hair growth and follicle density in Rex rabbits.
research Maculopapular rash upon antibiotic therapy in a patient with rheumatoid arthritis
Methotrexate caused a rare skin rash in a rheumatoid arthritis patient, which resolved after stopping the drug.
research QuantAnts machines discover biomarkers for RAS signaling activation and design sgRNAs for CRISPR to target complex CD9, CD34, and CD74.
The QuantAnts machines can find cancer markers and create CRISPR targets for them.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research A Study on the Clinical Profile and Pharmacogenetics of Methotrexate Treatment in Patients with Rheumatoid Arthritis.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Safety Assessment of Ritlecitinib Based on the FDA Adverse Event Reporting System (FAERS ) Database: A Real‐World Pharmacovigilance Study
Ritlecitinib has common side effects like headache and acne, and unexpected ones like diabetes and thyroid issues.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Retinoic-Acid-Related Orphan Receptor Alpha Is Involved in the Regulation of the Cytoskeleton of Hair Follicle Stem Cells
RORA affects hair follicle stem cells' structure and movement, potentially helping treat hair loss.
research A Case of Rhupus with Rowell Syndrome
A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research A Mutation of the Androgen Receptor Associated with Partial Androgen Resistance, Familial Gynecomastia, and Fertility*
A subtle androgen receptor abnormality can allow normal male development and sometimes fertility despite partial androgen resistance.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research A disproportionality analysis of adverse events caused by pexidartinib from the FDA adverse event reporting system
Pexidartinib often causes liver issues and fatigue, especially in women.
research Fine mapping of the human AR/EDA2R locus in androgenetic alopecia
Genetic marker rs12558842 strongly linked to male hair loss.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Peroxisome Proliferator Activated Receptor-Gamma Tissue Expression and Gene Polymorphism in Alopecia Areata in an Egyptian Sample
PPAR-γ may be a key target for treating alopecia areata and other skin conditions.
research 586 Increase in CD8+ effector memory cells re-expressing CD45RA (TEMRA) reflects disease activity and enables early prediction of therapeutic outcome in rapidly progressive alopecia areata
Increased TEMRA cells can predict treatment outcomes in rapidly progressive alopecia areata.
research Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease
Mutations in certain receptors can cause diseases and offer new treatment options.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Keratin 79 is a PPARA target that is highly expressed by liver damage
Keratin 79 is linked to liver damage and may help diagnose liver diseases.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.