research 265 Modulation of disease-central cytokine pathways with TAK-279, a highly selective oral tyrosine kinase 2 (TYK2) inhibitor, defines clinical response in patients with psoriasis
TAK-279 effectively reduces psoriasis symptoms and is safe.
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960-990 / 1000+ resultsresearch Emergence of hereditary hyperplastic gingivitis in Newfoundland and Labrador, Canada: an exploration into the molecular aetiology at both the gene and genome levels
Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Recalcitrant lichen planopilaris treated with upadacitinib: a case series
Upadacitinib may effectively treat resistant lichen planopilaris.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Kerion Celsi in a Nepalese Boy: An Underdiagnosed Cause of Scalp Swelling
Fungal infections should be considered in scalp swelling to avoid misdiagnosis.
research Symptomatic hypercalcemia and scarring alopecia as presenting features of sarcoidosis
Sarcoidosis can cause severe high calcium levels, hair loss, and kidney failure.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Faculty Opinions recommendation of Hidradenitis suppurativa as a potential subtype of autoinflammatory keratinization disease.
Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
research Treatment of alopecia areata with the janus kinase inhibitor upadacitinib: A retrospective cohort study
Upadacitinib improved hair regrowth and quality of life in alopecia areata patients with minimal side effects.
research Loss of PIKFyve Kinase Function Driven by Platelet Factor 4 Promoter Results in Platelet Lysosomal Storage Defects and Infiltration of Multiple Organs with Vacuolated Macrophages
PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.
research Combined C3b and Factor B Autoantibodies and MPGN Type II
The FDA did not approve certain drugs for prostate cancer prevention due to concerns about their effectiveness and potential risks.
research Castleman’s Disease Combined with the Development of Systemic Lupus Erythematosus
A 16-year-old boy with Castleman's disease and lupus was successfully treated and showed no recurrence.
research Perspectives of Chinese Adult Patients with Alopecia Areata on Janus Kinase Inhibitors Therapy: A Qualitative Analysis Based on Social Media Platforms
Chinese patients with alopecia areata value JAK inhibitors but worry about side effects and relapse, highlighting the need for education and support.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Public Interest in JAK Inhibitors for Alopecia Areata: A Google Trend Analysis (Preprint)
Interest in JAK inhibitors for hair loss increased significantly after media coverage and FDA approval.
research Bioconversion, Pharmacokinetics, and Therapeutic Mechanisms of Ginsenoside Compound K and Its Analogues for Treating Metabolic Diseases
Ginsenoside compound K shows promise for treating metabolic diseases like diabetes and obesity.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Systemic lupus erythematosus (SLE) in the eastern region of Saudi Arabia. A comparative study
SLE patients in eastern Saudi Arabia have a generally good prognosis despite multi-organ involvement.
research Innovative Therapeutic Strategies in TYK2-Targeted Treatments: From Cancer to Autoimmune Disorders
TYK2 inhibitors show promise for treating cancer and autoimmune disorders.
research Lupus Pneumonitis Masquerading as Pulmonary Tuberculosis–A Case Study
Lupus pneumonitis can mimic tuberculosis and should be considered in diagnoses.
research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study
SQSTM1 gene issues may increase the risk of alopecia areata.
research Tofacitinib therapy for children with severe alopecia areata
Tofacitinib may help treat severe childhood alopecia areata, but risks require careful consideration.
research JAK 1-3 inhibitors and TYK-2 inhibitors in dermatology: Practical pearls for the primary care physician
Primary care doctors need to monitor JAK and TYK-2 inhibitors carefully for skin conditions.
research Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug–disease interactions
ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
research Novel investigational drugs for alopecia areata and future perspectives
JAK inhibitors are safe and effective for treating moderate-to-severe alopecia areata.
research Multifocal alopecia of the scalp, axillae, and body
A young man was diagnosed with a rare hair loss condition usually seen in older women.