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750-780 / 1000+ resultsresearch 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 706 Engrailed-1 promotes eccrine sweat gland development in permissive environments
The Engrailed-1 gene plays a key role in the development of sweat glands in mice.
research Emerging Strategies in Smart Nano-PROTAC for Stimuli-Responsive Protein Degradation and Precision Cancer Therapy
Smart nano-PROTACs improve cancer treatment by targeting proteins more precisely and reducing side effects.
research Improved 2α-Hydroxylation Efficiency of Steroids by CYP154C2 Using Structure-Guided Rational Design
Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
research Functional analysis of the PIP5K1A gene in Liaoning Cashmere goats: an investigation based on bioinformatics, tissue localization, and biological functions
The PIP5K1A gene helps cashmere growth in goats by promoting cell proliferation, and melatonin boosts its expression.
research Sulfotransferases, sulfatases and formylglycine-generating enzymes: a sulfation fascination
The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Inheritance of Some Electrophoretic Phenotypes of Human Hair
Human hair protein patterns are inherited genetically.
research Glutamate transporter Slc1a3 mediates inter‐niche stem cell activation during skin growth
The protein SLC1A3 is important for activating skin stem cells and is necessary for normal hair and skin growth in mice.
research Efficient In Vitro Transfection of Human Keratinocytes with an Adenovirus-Enhanced Receptor-Mediated System
The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
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.
research AP-2α/AP-2β transcription factors are key regulators of epidermal homeostasis
AP-2α and AP-2β are crucial for healthy skin and hair.
research Krtap16, Characterization of a New Hair Keratin-associated Protein (KAP) Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13
Hoxc13 regulates specific hair protein genes on mouse chromosome 16.
research Extracellular Caspase-1 induces hair stem cell migration in wounded and inflamed skin conditions
Caspase-1 helps hair stem cells move to heal wounded or inflamed skin.
research The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein
Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.
research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
research Genetically engineered biomimetic ATP-responsive nanozyme for the treatment of cardiac fibrosis
A new engineered treatment shows promise in curing heart fibrosis.
research Identification and single-cell analysis of prognostic genes related to mitochondrial and neutrophil extracellular traps in bladder cancer
Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
research 852 Targeted deletion of crif1 in mouse skin epidermis impairs skin homeostasis
Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
research Structural Analyses of the Transient Receptor Potential Channels TRPV3 and TRPV6
TRPV3 and TRPV6 channels change structure to regulate calcium and heat responses.
research Vitamin E TPGS based transferosomes augmented TAT as a promising delivery system for improved transdermal delivery of raloxifene
The new delivery system improved raloxifene's skin absorption and effectiveness against cancer cells.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Matriptase Expression and Zymogen Activation in Human Pilosebaceous Unit
Matriptase is highly active in hair follicles and sebaceous glands, especially during hair growth phases.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research The Proximal Promoter of the Human Transglutaminase 3 Gene
The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
research A Group of Type I Keratin Genes on Human Chromosome 17: Characterization and Expression
Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.