research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
Search
for
Sort by
Research
630-660 / 1000+ results research Progeroide Syndrome
Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
research Possible involvement of 5α-reduced neurosteroids in adrenergic and serotonergic stimulation of GFAP gene expression in rat C6 glioma cells
5α-reduced neurosteroids may help regulate glial cell differentiation.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Generalised Glucocorticoid Resistance
Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
research Lentivirus‐mediated subcutaneous JAM‐A modification promotes skin wound healing in a mouse model by strengthening the secretory function and proliferation of fibroblasts
JAM-A modification speeds up skin wound healing by boosting fibroblast growth.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research 865 Conditional ablation of JAK-STAT5 signaling induces anagen hair growth
Blocking JAK-STAT5 signaling in mice leads to hair growth.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research 177 Chronic graft-versus-host disease exhibits distinct Th1-skewing and barrier abnormalities in the skin
Chronic graft-versus-host disease in the skin shows strong Th1 immune response and unique barrier issues.
research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
research The Relation of the SHBG Gene Polymorphism (rs1799941) with PCOS in a Group of Iraqi Women
Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.
research Selective Janus kinase 1 inhibition resolves inflammation and restores hair growth offering a viable treatment option for alopecia areata
Blocking Janus kinase 1 helps stop inflammation and regrow hair, making it a good treatment for hair loss from alopecia areata.
research Evaluation of serum G protein-coupled estrogen receptor 1 (GPER-1) levels in patients with androgenetic alopecia
Alopecia patients have less GPER-1, which might affect hair loss.
research The prevalence and types of androgenetic alopecia in Korean men and women
AGA more common in men, Koreans have lower rates and unique patterns.
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 Generation of Cashmere Goats Carrying an EDAR Gene Mutant Using CRISPR-Cas9-Mediated Genome Editing
CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
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 Loss of Gata6 causes dilation of the hair follicle canal and sebaceous duct
Removing Gata6 causes hair follicle and sebaceous duct enlargement.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research The Role of rs6152 Allele and Non-Genetic Factors in Androgenetic Alopecia: A Pilot Study in the Indonesian Local Population
The rs6152 allele is not a good marker for baldness in the Indonesian population, but family history, age, gender, high blood pressure, and body weight are linked to the risk.