research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
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210-240 / 1000+ results research Gingerol ameliorates chronic graft-versus-host disease by regulating treg/Th17 transdifferenciation
Gingerol may help treat chronic graft-versus-host disease by improving immune cell balance.
research Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish
Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
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 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 Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Human placental mesenchymal stromal cell‐derived exosome‐enriched extracellular vesicles for chronic cutaneous graft‐versus‐host disease: A case report
Exosome-enriched vesicles from placental cells improved skin condition in a patient with chronic graft-versus-host disease.
research Immunomodulatory properties of mesenchymal stromal/stem cells: The link with metabolism
Enhancing glycolysis in mesenchymal stromal/stem cells boosts their immune functions and therapy potential.
research Regulatory T cells in dominant immunologic tolerance
Regulatory T cells help prevent autoimmunity and have potential for treating autoimmune diseases.
research Alopecia Universalis and Chronic Graft-vs-Host Disease Treated With Ruxolitinib
Ruxolitinib may help treat hair loss and symptoms in patients with chronic graft-versus-host disease.
research LB881 Unraveling mechanisms of scarring alopecia in discoid lupus: Insights from spatial transcriptomics
CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss in Discoid Lupus.
research An Innovative Scalp-Dyeing Technique with Gentian Violet Solution During Follicular Unit Extraction for White-Haired Follicular Units
A new method using gentian violet dye makes it easier to see and work with white hair in hair transplant surgeries.
research Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research γδ T cells mediate a requisite portion of a wound healing response triggered by cutaneous poxvirus infection
γδ T cells are crucial for early wound healing after a skin virus infection.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Clinical Features and Treatment Options of Vogt-Koyanagi-Harada Disease
Early treatment with corticosteroids and immunosuppressants is crucial for managing Vogt-Koyanagi-Harada disease.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research MON-014 Evaluation of Healthcare of Gender-Dysphoric Veterans in the Veterans Affairs Northern California Health Care System (VANCHCS)
Care for gender-dysphoric Veterans can be improved with a consistent, team-based approach.
research Demethylation of ITGAV accelerates osteogenic differentiation in a blast-induced heterotopic ossification in vitro cell culture model
Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Growth hormone substitution in adult growth hormone‐deficient men augments androgen effects on the skin
Growth hormone therapy boosts androgen effects on skin in men.
research Targeting the Hypoxic Microenvironment in Cutaneous Chronic Graft-Versus-Host Disease through PI3Kδ Inhibition
PI3Kδ inhibition may effectively treat cutaneous chronic graft-versus-host disease.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Verrucous hemangioma leg: A challenging birthmark
A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.