research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
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660-690 / 1000+ resultsresearch [An immunohistochemical study on the normal human skin using an anti-hair keratin monoclonal antibody (HKN-2)].
research Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease
BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
research 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
research 412 High amphiregulin expression is a high-risk feature of acute graft-versus-host disease of the skin
High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Questionnaire Modifications and Alternative Scoring Methods of the Dermatology Life Quality Index: A Systematic Review
There is a significant need for better-validated quality of life tools in dermatology.
research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
A mutation in mice causes hair loss and immune problems.
research Validation and casework testing of the BioPlex-11 for STR typing of telogen hair roots
BioPlex-11 improves DNA profiling from telogen hair roots in forensic work.
research At the Root: Cutaneous Langerhans Cell Histiocytosis
A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Serum Level of Programmed Death Ligand1 in Alopecia Areata Patients in Relation to Disease Severity
Higher levels of PD-L1 are linked to more severe hair loss in people with Alopecia Areata.
research Association between Serum Brain-derived Neurotrophic Factor and 25-OH Vitamin D Levels with Vitamin D Receptors Gene Polymorphism (rs2228570) in Patients with Autoimmune Thyroiditis and Hypothyroidism
The VDR gene polymorphism does not affect BDNF levels in autoimmune thyroiditis and hypothyroidism patients.
research Plasmacytoid dendritic cells as a key player in the initiation phase of alopecia areata-induced C3H/HeJ mouse
Plasmacytoid dendritic cells, which overproduce IFN-α, may play a crucial role in starting alopecia areata, an autoimmune disease causing hair loss.
research Altered expression of intracellular Toll-like receptors in peripheral blood mononuclear cells from patients with alopecia areata
Increased Toll-like receptors in blood cells may contribute to alopecia areata and could be a target for new treatments.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Structure of human type II 5 alpha-reductase gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research Cytokine profiling of alopecia areata phenotypic subsets
Higher levels of IL-1a and IL-1RA were found in severe alopecia areata cases.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research 555 Dermal single-cell atlas: a novel tool to explore fibroblast heterogeneity
A new tool helps study hair follicle cells to develop better treatments for hair disorders.
research Bioinformatics analysis of genes associated with the patchy-type alopecia areata: CD2 may be a new therapeutic target
CD2 might be a new treatment target for patchy alopecia areata.
research Cloning and Characterization of a Mouse Type I Hair Keratin cDNA
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research MiR‐200c‐3p as a novel genetic marker and therapeutic tool for alopecia areata
miR-200c-3p could help diagnose and treat alopecia areata.
research SLAGANJE DVA INSTRUMENTA ZA OCENU KVALITETA ŽIVOTA U DERMATOLOGIJI
Using both DLQI and Skindex-16 together gives a better understanding of quality of life in skin disease patients.
research A humanized IL-2 fusion protein enhances T regulatory cells in vivo and restrains disease in a murine model of Alopecia Areata 4760
A humanized IL-2 fusion protein boosts T regulatory cells and helps control hair loss in Alopecia Areata.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.