research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
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 novel calmodulin‐interacting Domain of Unknown Function 506 protein represses root hair elongation in Arabidopsis
The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
research XEDAR activates the non-canonical NF-κB pathway
XEDAR triggers a specific signaling pathway in cells.
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Cancer vaccine strategies and studies of human thioredoxin reductase splice variants
Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
research Novel Drugs Targeting Retinoic Acid Receptors
Newer retinoid drugs are effective for skin conditions but have significant side effects.
research Suppression of Vitamin D Receptor and Induction of Retinoid X Receptor α Expression During Squamous Differentiation of Cultured Keratinocytes
As skin cells mature, vitamin D receptor levels decrease while retinoid X receptor α levels increase.
research Association of prior 5-α-reductase inhibitor exposure with ICI benefit in metastatic RCC: Multicentre cohort with single-cell immune profiling.
Using 5-α-reductase inhibitors before treatment improves outcomes for patients with metastatic renal cell carcinoma.
research Evolution of Ritlecitinib Population Pharmacokinetic Models During Clinical Drug Development
Ritlecitinib shows promise as a versatile treatment for various autoimmune and inflammatory diseases.
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 Ruxolitinib protects skin stem cells and maintains skin homeostasis in murine graft-versus-host disease
Ruxolitinib helps protect skin stem cells and keeps skin healthy in mice with skin GVHD.
research Wanita dengan Sindrom Rupus : Lupus Eritematosus Sistemik dan Artritis Reumatoid
A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
research Expression of retinoid nuclear receptor superfamily members in human hair follicles and its implication in hair growth.
RXR agonists may promote hair growth in humans.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Editorial Comment
5-ARI therapy may help prevent prostate cancer progression.
research Developing a JAK Inhibitor for Targeted Local Delivery: Ruxolitinib Cream
Ruxolitinib cream effectively targets and treats inflammatory skin diseases.
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 Single‐cell transcriptomics reveals a senescence‐associated IL ‐6/ CCR6 axis driving radiodermatitis
Blocking certain immune signals can reduce skin damage from radiation therapy.
research Characterization of a Test for Invasive Breast Cancer Using X-ray Diffraction of Hair—Results of a Clinical Trial
Combining hair x-ray diffraction with mammography improves breast cancer detection.
research The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1
Ruxolitinib may effectively treat APS-1 by reducing harmful immune responses.
research Various Applications of Tofacitinib and Ruxolitinib (Janus Kinase Inhibitors) in Dermatology and Rheumatology: A Review of Current Evidence and Future Perspective
Tofacitinib and ruxolitinib are effective and safe for treating various autoimmune skin and joint disorders.
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 Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Diagnosis of breast cancer by X-ray diffraction of hair
X-ray diffraction of hair might help detect breast cancer non-invasively.
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.