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450-480 / 1000+ resultsresearch 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 Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Pro-Insulin-Like Growth Factor-II Ameliorates Age-Related Inefficient Regenerative Response by Orchestrating Self-Reinforcement Mechanism of Muscle Regeneration
Pro-IGF-II improves muscle repair in old mice.
research Matrix-Degrading Type II Transmembrane Serine Protease Matriptase: Its Role in Cancer Development and Malignancy
Matriptase imbalance contributes to cancer development and spread.
research 1392 Activation of Id2 gene regulatory network ruling quiescence of hair follicle stem cells
Id2 gene helps keep hair follicle stem cells inactive.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride
Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
research Inhibitory effects of the ATP-sensitive potassium channel openers cromakalim, pinacidil and minoxidil on the carbachol–response curve in porcine detrusor muscle
Certain drugs can reduce bladder muscle contractions, potentially helping treat bladder diseases.
research Molecular Cloning and Expression Analysis of Prostaglandin E Receptor 2 Gene in Cashmere Goat (Capra hircus) Skin during Hair Follicle Development
The PTGER2 gene is highly active in Cashmere goat skin and its activity changes with the hair growth cycle.
research The cDNA-deduced amino acid sequence for trichohyalin, a differentiation marker in the hair follicle, contains a 23 amino acid repeat.
Trichohyalin, a hair follicle protein, has a part with repeating patterns of 23 amino acids.
research Two‐photon microscopy for intracutaneous imaging of stem cell activity in mice
Two-photon microscopy effectively tracks live stem cell activity in mouse skin with minimal harm and clear images.
research Homology Modeling of 5-alpha-Reductase 2 Using Available Experimental Data
Accurate protein modeling can help develop new treatments for prostate cancer and other diseases.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research A Novel Type II Cytokeratin, mK6irs, is Expressed in the Huxley and Henle Layers of the Mouse Inner Root Sheath
A new protein, mK6irs, is found in specific hair layers and may help understand hair growth and diseases.
research Neurotrophin-4 modulates the mechanotransducer Cav3.2 T-type calcium current in mice down-hair neurons
Neurotrophin-4 increases calcium current in specific mouse neurons through the PI3K pathway.
research GLI2 Is Expressed in Normal Human Epidermis and BCC and Induces GLI1 Expression by Binding to its Promoter
GLI2 activates GLI1, promoting skin tumor growth and hair development.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Expression and Activity Assay of Human Steroid 5 Alpha-Reductase Type II in CHO Cells
Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.
research eLife assessment: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
research State-dependent signaling by Cav1.2 regulates hair follicle stem cell function
Cav1.2 affects hair growth and could be a target for hair loss treatments.
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.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep
The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.