research Few Simple Sequence Repeats in Human Hair
Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
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research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research The development of several organs and appendages is impaired in mice lacking Sp6
Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
research The Wave complex controls epidermal morphogenesis and proliferation by suppressing Wnt–Sox9 signaling
The Wave complex controls skin growth by suppressing certain signals.
research Thiazole: A Versatile Standalone Moiety Contributing to the Development of Various Drugs and Biologically Active Agents
Thiazole, a sulfur and nitrogen chemical, is useful in creating potential drugs for conditions like seizures, cancer, bacterial infections, tuberculosis, inflammation, malaria, viruses, Alzheimer's, diabetes, and A1-receptor 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 Keratin expression in mammalian skin, hair and nail [Abstract]
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3
A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
research Acidic and basic hair/nail ("hard") keratins: their colocalization in upper cortical and cuticle cells of the human hair follicle and their relationship to "soft" keratins.
Hair and nail cells share similar proteins, indicating a common differentiation pathway.
research A Fatty Acid / Protein Complex in Human Hair
A fatty acid/protein complex in human hair helps protect it from damage.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Three cDNA sequences of mouse type I keratins. Cellular localization of the mRNAs in normal and hyperproliferative tissues.
Different keratins have unique expression patterns in mouse skin cells.
research The Intermediate Filament Architecture as Determined by X-Ray Diffraction Modeling of Hard α-Keratin
Hard α-keratin in hair has a unique, nonordered structure, different from other fibers.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research The susceptibility of disulfide bonds to modification in keratin fibers undergoing tensile stress
Disulfide bonds in keratin fibers break more easily under stress, especially when wet, affecting fiber strength.
research Organization and Expression of Hair Follicle Genes.
Hair growth is controlled by specific gene clusters and proteins, and cysteine affects hair gene expression in sheep.
research Connexin mutations in human disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
research Transglutaminase Activity Is Conserved in Stratified Epithelia and Skin Appendages of Mammals and Birds
Transglutaminase activity is important for skin and is found in both mammals and birds.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Multi-omics analysis of functional substances and expression verification in cashmere fineness
The study concluded that the arachidonic acid pathway and the protein KRT79 play a role in determining the fineness of cashmere.
research The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research The Emerging Structural Pharmacology of ATP-Sensitive Potassium Channels
KATP channels are important for energy balance and are targeted by drugs for diabetes, hypoglycemia, hypertension, and hair loss.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
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 Targeted Inactivation of Gh/Tissue Transglutaminase II
Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
research Active mitochondria in healthy spiny mouse fibroblasts resemble megamitochondria and remain resilient across lifespan
Spiny mice have resilient, large mitochondria that help them regenerate tissue.