research Localized Variant of Junctional Epidermolysis Bullosa With R795X Mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
Search
for
Sort by
Research
390-420 / 1000+ results 
research The Human Skin Microbiome in Selected Cutaneous Diseases
Changes in skin microbes play a role in some skin diseases and could lead to new treatments.
research The Developmental Basis of Fingerprint Pattern Formation and Variation
Fingerprints form uniquely before birth due to specific genetic pathways and local signals.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research In Search of New Therapeutics: Molecular Aspects of the PCOS Pathophysiology - Genetics, Hormones, Metabolism and Beyond
New treatments are needed for PCOS that target its genetic, hormonal, and metabolic causes.
research 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 The Effect of DNMTs and MBPs on Hypomethylation in Systemic Lupus Erythematosus
Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Alopecia Areata: Pathogenesis, Genetic Factors, and Treatments Using Mouse Models
The document concludes that ongoing research using animal models is crucial for better understanding and treating Alopecia Areata.
research Short Anagen Hair Syndrome Is Caused by Mutations in the WNT10A Gene and Has a Genetic Overlap With Male Pattern Hair Loss
Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
research Geriatric Dermatology: Overview
Skin problems in the elderly are unique and may indicate other diseases, involving changes in skin, hair, nails, and increased cancer risk.
research Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Novel Approaches to Characterize Age-Related Remodeling of the Dermal-Epidermal Junction in 2D, 3D, and In Vivo
3D imaging shows clearer details of skin structure changes with age.
research Hairless-Knockout Piglets Generated Using CRISPR/Cas9 Exhibit Abnormalities in Skin and Thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Drug Eruptions
Any medication can cause skin reactions, some due to allergies and others due to dosage or genetic factors.
research Inducing Fate Changes at the Hair Follicle Stem Cell Niche
The study found that aging hair follicle stem cells change behavior, leading to hair loss, but drugs targeting these cells may help restore hair growth.
research Ulcerative Colitis and Total Alopecia in a Mother and Her Son
A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.
research Polycystic Ovary Syndrome in Adult Women
PCOS is a common hormonal disorder in women that can affect skin, fertility, and metabolism, and treatment is tailored to individual needs.
research Hair Shaft Dysplasias
Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
research A Locus on Distal Chromosome 10 (Ahl4) Affecting Age-Related Hearing Loss in A/J Mice
Scientists found a gene in mice that causes early hearing loss.
research Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
research Mite Burden and Immunophenotypic Response to Demodex Musculi in Swiss Webster, BALB/c, C57BL/6, and NSG Mice
NSG mice had the most mites, and genetic factors affect immune response and susceptibility.
research Update on Melasma—Part I: Pathogenesis
Melasma's causes include genetics, sun exposure, hormones, and oxidative stress, and understanding these can help create better treatments.
research Normal and Aging Hair Biology and Structure: Aging and Hair
Hair gets thinner, grayer, and changes texture with age due to genetics, environment, and cellular changes, affecting the growth cycle.
research Clinical and Trichoscopic Characteristics of Temporal Triangular Alopecia: A Multicenter Study
Temporal triangular alopecia is a non-scarring hair loss in children, often linked to other health conditions.
research 19-Year-Old Female with Hair Thinning and Heavy Periods
Lack of certain nutrients may contribute to hair loss and proper diet or supplements could improve it.