research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
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480-510 / 1000+ results research The role of CYP19A1 and ESR2 gene polymorphisms in female androgenetic alopecia in the Polish population
No significant link was found between the studied genes and female hair loss in the Polish population.
research Structural insights into SARS-CoV-2 spike protein and its natural mutants found in Mexican population
Mutations in the spike protein affect drug binding and effectiveness.
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 Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research Genetic alterations involved in the expression of the coloring of tortoiseshell and calcial hair in domestic cats males: review.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT
MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis
G allele of AR Stul polymorphism linked to higher hair loss risk, especially in white people.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Image 4_Associations between ionomic profile and metabolic abnormalities in a murine model of sodium sulfide induced alopecia areata.tif
Targeting specific metabolic and ionic pathways may improve alopecia areata treatment.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research RETRACTED: Causal role of immune cells in alopecia areata: A two‐sample Mendelian randomization study
The study suggested certain immune cells might cause alopecia areata, but it was retracted.
research Modulation of Androgen Receptor Transcriptional Activity
Androgen receptor activity is influenced by hormones, co-factors, modifications, and mutations.
research Image 1_Associations between ionomic profile and metabolic abnormalities in a murine model of sodium sulfide induced alopecia areata.tif
Targeting specific metabolic and ionic pathways may improve alopecia areata treatment.
research The crosstalk between PTEN ‐induced kinase 1‐mediated mitophagy and the inflammasome in the pathogenesis of alopecia areata
Targeting mitophagy may help treat alopecia areata by reducing inflammasome activation.
research Alopecia Areata in Aging C3H/HeJ Mice
Alopecia areata in these mice is inherited, more common in young females, and can be treated with triamcinolone acetonide.
research Comparative Gene Expression Profiling of Senescent and Androgenetic Alopecia Using Microarray Analysis
SA linked to mitochondrial issues and oxidative stress, while AGA involves disrupted hair growth genes.
research 164 Epigenetic and transcriptional profiling of PBMCs in mild and severe alopecia areata using single-cell RNA-Seq and ATAC-Seq
The study identified key immune cell differences between mild and severe alopecia areata.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Heat treatment increases the incidence of alopecia areata in the C3H/HeJ mouse model
Heat treatment increases hair loss in certain mice.