research Genes for intermediate filament proteins and the draft sequence of the human genome
The study found 65 intermediate filament genes, including new keratins, and suggested updating keratin naming.
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30-60 / 1000+ resultsresearch The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10
A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research ‘Atrichosis’, a new hairless gene with cyst formation in rats
A new gene causes hairlessness and skin cysts in rats.
research The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle
CDP is crucial for lung and hair follicle cell development.
research Formation of regulator/target gene relationships during evolution
Gene regulatory regions evolve faster than protein coding regions, allowing new gene relationships without changing transcription factors.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue
A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Knockout of the ING5 epigenetic regulator confirms roles in stem cell maintenance and tumor suppression in vivo
ING5 is crucial for stem cell maintenance and preventing certain cancers.
research Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research A novel 22-bp InDel within FGF7 gene is significantly associated with growth traits in goat
A specific gene variation in goats is linked to better growth traits.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research The Hairless Phenotype of the Hirosaki Hairless Rat Is Due to the Deletion of an 80-kb Genomic DNA Containing Five Basic Keratin Genes
Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
research Genetically separable determinants of hair keratin gene expression
Mutations in the Whn gene affect hair keratin gene expression differently.
research Skin regional specification and higher-order HoxC regulation
A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells
A truncated protein linked to breast cancer may change cell adhesion.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Terrestrial vertebrates have two keratin gene clusters; striking differences in teleost fish
Terrestrial vertebrates have balanced keratin gene clusters, unlike teleost fish.
research Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Identification and dissection of an enhancer controlling epithelial gene expression in skin
A specific DNA region controls skin cell gene expression by working with certain proteins.
research Few Simple Sequence Repeats in Human Hair
Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
research Transcriptome analysis reveals the genetic basis underlying the development of skin appendages and immunity in hedgehog (Atelerix albiventris)
Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.