research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
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780-810 / 1000+ resultsresearch The Naked (N) Mutation, Chromosome 15
The naked mutation in mice causes hair loss and helps identify keratin genes.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research An in vivo method for the detection of somatic mutations at the cellular level in mice
A new method can detect mutations in mice by observing changes in hair follicle cells.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Polymorphism in the A2M gene associated with high-quality milk in Murrah buffaloes (Bubalus bubalis)
Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
research The human keratins: biology and pathology
Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease
Histone demethylases can change gene expression and may be linked to diseases like cancer.
research Molecular principles of hair follicle induction and morphogenesis
Hair follicle development is controlled by interactions between skin tissues and specific molecular signals.
research Severe cutaneous adverse reactions to drugs
Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.
research Wnt Signaling in Skin Development, Homeostasis, and Disease
Wnt signaling is crucial for skin development and health, and its disruption can cause skin diseases.
research Roles for Msx and Dlx homeoproteins in vertebrate development
Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
research Biology of the Hair Follicle: The Basics
The document concludes that understanding hair follicle biology can lead to better hair loss treatments.
research Types I and II Keratin Intermediate Filaments
Keratins are crucial for cell structure, growth, and disease risk.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
research Macrophages Contribute to the Cyclic Activation of Adult Hair Follicle Stem Cells
Macrophages help activate hair follicle stem cells, affecting hair growth and skin repair.
research The effects of oestrogens on linear bone growth
Oestrogens are key for bone growth during puberty in both boys and girls.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research The Lysosomal Protease Cathepsin L Is an Important Regulator of Keratinocyte and Melanocyte Differentiation During Hair Follicle Morphogenesis and Cycling
Cathepsin L is essential for normal hair growth and development.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research The pathophysiology of polycystic ovary syndrome: trying to understand PCOS and its endocrinology
The conclusion is that PCOS is caused by ovarian sensitivity to hormones and disrupted hormone control, possibly due to ovarian factors, and more research is needed.
research Regulatory T Cells: the Many Faces of Foxp3
Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
research Neurosteroidogenesis Today: Novel Targets for Neuroactive Steroid Synthesis and Action and Their Relevance for Translational Research
New targets for making and using brain-synthesized steroids could lead to better treatments for brain disorders and alcoholism.