research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
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270-300 / 1000+ results research Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair (vol 8, pg 241, 2008)
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research A curated catalog of canine and equine keratin genes
61 functional keratin genes were identified in dogs and horses, leading to updated gene annotations.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Human gene correlation analysis (HGCA): A tool for the identification of transcriptionally co-expressed genes
The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research Spatial transcriptomics of a giant pilomatricoma
The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research A Unique Type I Keratin Intermediate Filament Gene Family is Abundantly Expressed in the Inner Root Sheaths of Sheep and Human Hair Follicles
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research Molecular cloning, characterization, and expression of sheep FGF5 gene
Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
research Differential Expression of Genes Encoding a Cysteine-Rich Keratin Family in the Hair Cuticle
research A Novel Gene Homologous to Teashirt is Differentially Expressed in Neonatal Mouse Skin During Development of Hair Follicles
research Characterisation of Four New Genes in the Ovine KAP19 Family
Four new genes related to sheep wool were discovered, showing genetic diversity.
research Transcriptome-based Selection and Validation of Optimal House-keeping Genes for Skin Research in Goats (Capra hircus)
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
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 Bioinformatics analysis and verification of m6A related genes based on the construction of keloid diagnostic model
IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
research Cross-species amplification of human microsatellite markers in pig-tailed and stump-tailed macaques
Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
research Integrated Analysis of Methylome and Transcriptome Changes Reveals the Underlying Regulatory Signatures Driving Curly Wool Transformation in Chinese Zhongwei Goats
PDGFC gene may help select goats with desirable curly wool traits.
research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
This study reports on a Pakistani family with three individuals affected by IFAP syndrome type I, linked to the recurrent MBTPS2 splice-site variant c.970+5G>A. This variant has also been identified in Chinese and Argentinian families. Haplotype analyses indicate that this is a recurrent mutational hotspot rather than a result of a founder effect. The study also notes variability in phenotypic severity among the families, suggesting the presence of additional modifying factors.