research An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa
A rare genetic condition can mimic symptoms of other diseases, making diagnosis challenging.
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510-540 / 1000+ resultsresearch Alopecia Universalis Associated with a Mutation in the Human hairless Gene
A mutation in the human hairless gene causes alopecia universalis.
research 26 Characterization of a murine model of aa induced by adoptive transfer of cultured lymph node cells
The study developed a mouse model for Alopecia Areata that responds to treatment, useful for future research.
research Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
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 Transduction‐induced overexpression of Merkel cell T antigens in human hair follicles induces formation of pathological cell clusters with Merkel cell carcinoma‐like phenotype
Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Clinical Snippets
R-spondin2 may help treat hair loss, gene differences could explain baldness, a peptide's regulation is linked to psoriasis, B-defensin gene copies may affect a skin condition's risk and severity, and potential markers and targets for alopecia areata were identified.
research Analyse phénotypique et fonctionnelle de la population CD4+CD160+ dans les lésions de dermatite atopique
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Hairless triggers reactivation of hair growth by promoting Wnt signaling
The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Detection of NUDT15 R139C variants and azathioprine utilization in patients with dermatologic conditions
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research 54022 Pooled Safety Assessments from the Multinational Phase 3 THRIVE-AA1 and THRIVE-AA2 Trials of Deuruxolitinib in Adult Patients with Moderate to Severe Alopecia Areata
research Physical and Functional Interaction between the Vitamin D Receptor and Hairless Corepressor, Two Proteins Required for Hair Cycling
Vitamin D receptor and hairless protein are essential for hair growth.
research Safety and Efficacy of Nucleic Acid Polymers in Monotherapy and Combined with Immunotherapy in Treatment-Naive Bangladeshi Patients with HBeAg+ Chronic Hepatitis B Infection
Nucleic acid polymers can enhance antiviral responses and improve treatment outcomes for chronic hepatitis B.
research Evaluation of serum Level of Human Beta Defensin 1 patients With Alopecia Areata
Human Beta Defensin 1 levels do not predict the risk or severity of Alopecia Areata.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research The E211 G>A Androgen Receptor Polymorphism Is Associated with a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
research [The effect of 1, 25-dihydroxyvitamin D3 on cultured human hair follicle cells from a patients with vitamin D-dependent rickets type II with alopecia].
DDR-II hair follicle cells don't respond to 1, 25-dihydroxyvitamin D3, aiding diagnosis.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research LncRNA RP11-818O24.3 regulates proliferation and differentiation of hair follicle stem cells by targeting FGF2/PI3K/AKT pathway
LncRNA RP11-818O24.3 may help treat hair loss by boosting hair follicle stem cell growth and differentiation.
research Effect of PTPN22, FAS/FASL, IL2RA and CTLA4 genetic polymorphisms on the risk of developing alopecia areata: A systematic review of the literature and meta-analysis
The T allele of the PTPN22 gene may increase the risk of alopecia areata.
research Transgenic HPV11-E2 protein modulates URR activity in vivo
The E2 protein affects gene activity in hair follicles of mice.
research LB1602 Skin cancer in skin of color transplant patients
Non-white organ transplant patients have worse skin cancer outcomes due to later diagnosis and treatment.
research 056 IL-15 prolongs hair growth and operates as a guardian of human hair follicle immune privilege
IL-15 helps maintain hair growth and protects the immune status of hair follicles.