research The human keratins: biology and pathology
Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
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570-600 / 1000+ results research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is crucial for normal hair structure and pigmentation.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Sgk3 links growth factor signaling to maintenance of progenitor cells in the hair follicle
Sgk3 is essential for normal hair follicle growth and maintenance.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research S100A6 Protein—Expression and Function in Norm and Pathology
S100A6 protein is linked to disease progression, especially in cancers.
research Mrp3, a Mitogen-Regulated Protein/Proliferin Gene Expressed in Wound Healing and in Hair Follicles*
Mrp3 helps in wound healing and hair growth.
research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes
Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
research Assembly of Hair Keratins in Transfected Epithelial Cells
Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Gata6 promotes hair follicle progenitor cell renewal by genome maintenance during proliferation
Gata6 is important for protecting hair growth cells from DNA damage and keeping normal hair growth.
research GATA3 inhibits proliferation and induces expression of both early and late differentiation markers in keratinocytes of the human epidermis
research Lineage commitment of dermal fibroblast progenitors is controlled by Kdm6b‐mediated chromatin demethylation
Kdm6b is crucial for skin cell differentiation.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
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 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
research 1440 DNA dioxygenases Tet2/3 regulate gene promoter accessibility and chromatin topology in lineage-specific loci to control keratinocyte differentiation and hair growth
Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
research Correspondence
RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro
Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
RXRα is crucial for hair growth and skin cell function.
research Functional mapping of the mouse hairless gene promoter region
Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
research Basonuclin is associated with the ribosomal RNA genes on human keratinocyte mitotic chromosomes
Basonuclin may help control ribosomal RNA gene activity in skin cells.
research Oncogenic Kras induces spatiotemporally specific tissue deformation through converting pulsatile into sustained ERK activation
The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
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 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.