research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
Search
for
Sort by
Research
930-960 / 1000+ results research Clinical Snippets
Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
research PCSK9: From Nature’s Loss to Patient’s Gain
Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.
research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research Deciphering gene regulatory programs in mouse embryonic skin through single-cell multiomics analysis
HT-scCAT-seq helps understand gene regulation in embryonic skin development.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research SOCS3 treatment prevents the development of alopecia areata by inhibiting CD8+ T cell-mediated autoimmune destruction
SOCS3 treatment can prevent hair loss by stopping harmful immune responses.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Determining the Relationship Among Cattle Genotype, Hair Coat Score, and Productivity Through the Investigation of Single Nucleotide Polymorphisms within Prolactin, Dopamine Receptor D2, and Melatonin Receptor 1A
research Genetics of blond hair
Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research 41701 Efficacy of the Oral JAK1/JAK2 Inhibitor CTP-543 (Deuruxolitinib) in Adult Patients with Moderate to Severe Alopecia Areata: Results from the Multinational Double-Blind, Placebo-Controlled THRIVE-AA1 Phase 3 Trial
CTP-543 effectively promotes hair regrowth in adults with moderate to severe alopecia areata.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Regulation of Hair Follicle Growth and Development by Different Alternative Spliceosomes of FGF5 in Rabbits
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Author Correction: Weekly treatment with SAMiRNA targeting the androgen receptor ameliorates androgenetic alopecia
research Erratum
The document contains an error.
research A Case of Steatocystoma Multiplex in a Psoriatic Patient during Treatment with Anti-IL-12/23
Ustekinumab treatment may reveal a genetic tendency for steatocystoma multiplex in psoriasis patients.
research Circ 0020938 inhibits hair follicle stem cells proliferation via the miR-142-5p/DSG4 axis in cashmere goats
Circ 0020938 slows down hair growth in cashmere goats.
research Lack of association between Vitamin D receptor FokI polymorphism and alopecia areata.
Vitamin D receptor FokI gene variation is not linked to alopecia areata.
research CD8-positive Lymphocytes in Graft-Versus-Host Disease of Humanized NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ Mice
CD8+ T cells play a key role in graft-versus-host disease in certain mice models.
research Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects
Combining genetic models helps improve heat tolerance in beef cattle.
research Spectrum of clinical manifestations of SLE patients from India and its correlation with KIR gene polymorphism
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.