research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
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180-210 / 1000+ results research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research LB1053 Dysregulation of antioxidant enzyme PRDX5 in alopecia areata
PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
research 229 Single cell transcriptomics identifies a potential role for Arg1+ macrophages in alopecia areata pathogenesis
Arg1+ macrophages may play a role in causing alopecia areata.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Updated Integrated Safety Analysis of Ritlecitinib up to ~5 Years in Adolescents With Alopecia Areata From the ALLEGRO Clinical Trials
Ritlecitinib is generally safe for adolescents with alopecia areata over 5 years.
research Epigenetic regulation of 5α reductase-1 underlies adaptive plasticity of reproductive function and pubertal timing
Environmental factors affect reproductive traits by altering the SRD5A1 gene.
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 Analysis of familial history in Chinese patients with androgenetic alopecia
Family history affects hair loss severity and onset more in men than women.
research Correspondence
RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Real-world assessment of ritlecitinib in patients with severe alopecia areata: a 24-week multicentre retrospective study
Ritlecitinib may be more effective for severe alopecia areata than conventional treatments.
research Involvement of RIPK1 in Alopecia Areata
RIPK1 inhibitors might help prevent alopecia areata.
research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
research Updated Integrated Safety Analysis of Ritlecitinib Over 72 Months In Patients With Alopecia Areata From the ALLEGRO Clinical Trial Program
Ritlecitinib is generally safe for alopecia areata patients over 72 months.
research Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene
Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
research Integrated Safety Analysis of Ritlecitinib, an Oral JAK3/TEC Family Kinase Inhibitor, for the Treatment of Alopecia Areata from the ALLEGRO Clinical Trial Program
Ritlecitinib is safe and well-tolerated for treating alopecia areata in patients aged 12 and older.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Hair Loss Profiles and Ritlecitinib Efficacy in Patients with Alopecia Areata: Post Hoc Analysis of the ALLEGRO Phase 2b/3 Study
Ritlecitinib effectively improves hair growth in alopecia areata patients, regardless of hair loss pattern.
research Family History and Risk of Hair Loss
Men with a family history of hair loss are more likely to experience it themselves, especially if both parents have hair loss.
research Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED
Ruxolitinib reduced inflammation and improved symptoms in APECED patients but may cause anemia and weight gain.
research Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles
Runx1 helps control the KAP5 gene in human hair follicles.
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 Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
research Genetic Variants at 20p11 Confer Risk to Androgenetic Alopecia in the Chinese Han Population
Genetic variants at 20p11 increase baldness risk in Chinese Han people.
research ROBO4 deletion ameliorates PAF-mediated skin inflammation via regulating the mRNA translation efficiency of LPCAT1/LPCAT2 and the expression of PAF receptor
Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.