research The Association Between rs2476601 Polymorphism in PTPN22 Gene and Risk of Alopecia Areata
The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
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840-863 / 863 resultsresearch New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Retinoic Acid Exerts Sexually Dimorphic Effects on Muscle Energy Metabolism and Function
Retinoic acid affects male and female muscle energy use and function differently.
research Prevalence and Some Risk Factors with Therapeutic Trial of Sheep Dermatophytosis in Egypt
Tioconazole cream is highly effective and easy to use for treating sheep dermatophytosis.
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.
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 Genome Wide Association Analysis of Root Hair Traits in Rice Reveals Novel Genomic Regions Controlling Epidermal Cell Differentiation
Scientists found new genetic areas that affect how rice root hairs grow and develop.
research Identification of the Keratin-Associated Protein 22-2 Gene in Capra Hircus and Its Association with Cashmere Traits
A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
research Systematic Review of Exosome Treatment in Hair Restoration: Preliminary Evidence, Safety, and Future Directions
Exosome treatment for hair growth is promising but not FDA-approved and needs more research on safety and how it works.
research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Adrenal and Gonadal Activity, Androgen Concentrations, and Adult Height Outcomes in Boys With Silver-Russell Syndrome
Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
research A Frameshift Mutation in the TRPS1 Gene Showing a Mild Phenotype of Trichorhinophalangeal Syndrome Type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research The Impact of Vitamin D Receptor Gene Polymorphisms (FokI, ApaI, TaqI) in Correlation with Oxidative Stress and Hormonal and Dermatologic Manifestations in Polycystic Ovary Syndrome
Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.
research C-Reactive Protein as a Novel Biomarker for Vitamin D Deficiency in Alopecia Areata
High CRP levels could indicate vitamin D deficiency in people with alopecia areata.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research A Missense Mutation in Lama3 Causes Androgen Alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.
research Developmental Mapping of Hair Follicles in the Embryonic Stages of Cashmere Goats Using Proteomic and Metabolomic Construction
Hair follicle development in cashmere goats involves dynamic changes in proteins and metabolites, with key roles for oxytocin, MAPK, and Ca2+ pathways.
research 46,XY Disorders of Sex Development Due to Type 2 5-Alpha Reductase Deficiency in Three Siblings: A Case Report from a Low-Resource Setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Collodion Baby to Bathing Suit Ichthyosis: A 6-Year Follow-Up
A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
research Pathogenesis of Androgenetic Alopecia
Androgenetic alopecia, or hair loss, is caused by a mix of genetics, hormones, and environment, where testosterone affects hair growth and causes hair to become smaller and grow for a shorter time.
research Clouston’s Syndrome: A Rare Case Report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.