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.
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720-750 / 1000+ results research Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair"
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
research Keratins: the hair shaft's backbone revealed
Keratins are crucial for hair strength, and mutations in certain keratin genes cause hair disorders.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research 315 Butyrophilin-like 2 (BTNL2) controls auto-aggressive dermal γδT lymphocytes that attack human hair follicles.
BTNL2 helps protect hair follicles from immune attacks.
research MEGA PROTAC, MEGA DOCK-based PROTAC mediated ternary complex formation pipeline with sequential filtering and rank aggregation
MEGA PROTAC improves prediction and ranking of protein complexes better than existing methods.
research Promoter Methylation Changes in KRT17: A Novel Epigenetic Marker for Wool Production in Angora Rabbit
Changes in KRT17 gene activity linked to wool production in Angora rabbits.
research Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma
Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
research The Functional Organization of Cutaneous Low-Threshold Mechanosensory Neurons
Different hair follicles in the skin are innervated by unique combinations of mechanosensory neurons, crucial for touch sensation.
research Characterization of a mouse Scube3 reporter line
Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
research Hair Follicle Transglutaminases and the Formation of ε-(γ-Glutamyl) Cross-links
Transglutaminases help form strong hair by linking proteins, and can potentially alter hair properties.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Directed Expression of a Chimeric Type II Keratin Partially Rescues Keratin 5-null Mice
A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
research Human dermal fibroblast‐derived secretory proteins for regulating nerve restoration: A bioinformatic approach
Human dermal fibroblast proteins help restore nerves during healing.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research Shaping Up Mitochondrion in Motion
Mitochondria change shape to meet energy needs during cell movement.
research Targeting the stem cell niche: role of collagen XVII in skin aging and wound repair
Collagen XVII is important for skin aging and wound healing.
research Sox21 Regulates Anapc10 Expression and Determines the Fate of Ectodermal Organ
Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
research Expression of the Intermediate Filament Keratin Gene,K15,in the Basal Cell Layers of Epithelia and the Hair Follicle
K15 gene is mainly active in the basal layers of hair follicles and epithelia, aiding early skin cell development.
research NFAT5 mediates hypertonic stress-induced atherosclerosis via activating NLRP3 inflammasome in endothelium
NFAT5 triggers atherosclerosis under stress by activating inflammation in blood vessels.
research 1372 Modulation of YBX1 phosphorylation determines epidermal stem cell function
Changing YBX1 protein activity affects skin stem cell function and aging.
research Transcriptional Governance of Hair Follicle Stem Cell Quiescence and Niche Maintenance in Long-Term Tissue Regeneration
FOXC1 is essential for keeping hair follicle stem cells inactive and maintaining their environment for healthy hair growth.
research Protective mitophagy in human hypoxic cardiomyocytes: mechanistic insights into SGLT2 inhibitor Dapagliflozin cardioprotection in ischemic injury
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research Hair-Specific Keratins: Characterization and Expression of a Mouse Type I Keratin Gene
research miR‐124 promotes neural differentiation in mouse bulge stem cells by repressing Ptbp1 and Sox9
miR-124 helps mouse hair follicle stem cells become nerve cells by blocking Ptbp1 and Sox9.
research Tight Junction barriers in human hair follicles – role of claudin-1
Claudin-1 is important for the barrier function and growth of hair.
research Keratinocytes as Depository of Ammonium-Inducible Glutamine Synthetase: Age- and Anatomy-Dependent Distribution in Human and Rat Skin
Keratinocytes help manage skin nitrogen metabolism, varying by age and skin area.
research Metabolic and transcriptomic reprogramming during contact inhibition-induced quiescence is mediated by YAP-dependent and YAP-independent mechanisms
Quiescent cells have increased mitochondrial activity and ECM gene expression, but reduced glycolysis.