research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
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research Alopecia in Harlequin Mutant Mice Is Associated with Reduced AIF Protein Levels and Expression of Retroviral Elements
Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Keratinocytes and Adipose-Derived Mesenchymal Stem Cells: The Heir and the Spare to Regenerative Cellular Therapies for Difficult-to-Heal Skin Wounds
Keratinocytes and adipose-derived stem cells can effectively heal difficult skin wounds.
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 Detection of Circular RNA Expression and Related Quantitative Trait Loci in the Human Dorsolateral Prefrontal Cortex
Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
research Bioinformatic Analysis of Gene Expression Data Reveals Src Family Protein Tyrosine Kinases as Key Players in Androgenetic Alopecia
Protein tyrosine kinases are key in male pattern baldness, affecting skin structure, hair growth, and immune responses.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Loss of Epidermal Evi/Wls Results in a Phenotype Resembling Psoriasiform Dermatitis
Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
research Exosomes Mediate Sensory Hair Cell Protection in the Inner Ear
Exosomes are crucial for protecting sensory hair cells in the inner ear.
research Disruption of the Temporally Regulated Cloaca Endodermal β-Catenin Signaling Causes Anorectal Malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research IL-36γ Drives Skin Toxicity Induced by EGFR/MEK Inhibition and Commensal Cutibacterium Acnes
A protein called IL-36γ causes skin side effects from certain cancer treatments when combined with a common skin bacteria.
research A Conditional Multi-Trait Sequence GWAS Discovers Pleiotropic Candidate Genes and Variants for Sheep Wool, Skin Wrinkle, and Breech Cover Traits
Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
research The Mouse Hairy Ears Mutation Exhibits an Extended Growth (Anagen) Phase in Hair Follicles and Altered Hoxc Gene Expression in the Ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research Epidermal PPARγ Is a Key Homeostatic Regulator of Cutaneous Inflammation and Barrier Function in Mouse Skin
PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Evidence for 1,25-Dihydroxyvitamin D3-Independent Transactivation by the Vitamin D Receptor
The vitamin D receptor can work without its usual activating molecule.
research Distinct Tooth Regeneration Systems Deploy a Conserved Battery of Genes
Different species use the same genes for tooth regeneration.
research Recent Advances in Genome-Editing Technology with CRISPR/Cas9 Variants and Stimuli-Responsive Targeting Approaches within Tumor Cells: A Future Perspective of Cancer Management
New CRISPR/Cas9 variants and nanotechnology-based delivery methods are improving cancer treatment, but choosing the best variant and overcoming certain limitations remain challenges.
research Keratin Promotes Differentiation of Keratinocytes Seeded on Collagen/Keratin Hydrogels
Keratin helps skin cells mature when added to a collagen mix, which could be important for skin and hair health.
research Effects of KRTAP20-1 Gene Variation on Wool Traits in Chinese Tan Sheep
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Structure and Expression of Genes for a Class of Cysteine-Rich Proteins of the Cuticle Layers of Differentiating Wool and Hair Follicles
Researchers found genes for cysteine-rich proteins that form the protective layer of hair in humans and sheep.
research Quantification of the Vitamin D Receptor-Coregulator Interaction
Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
research Keratin Intermediate Filaments in the Colon: Guardians of Epithelial Homeostasis
Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
research Non-Viral Delivery of the CRISPR/Cas System: DNA Versus RNA Versus RNP
RNA delivery is best for in-body use, while RNP delivery is good for outside-body use. Both methods are expected to greatly impact future treatments.
research Genetic Association of Wool Quality Characteristics in United States Rambouillet Sheep
Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.
research Epithelial-Mesenchymal Micro-Niches Govern Stem Cell Lineage Choices
Different small areas within hair follicles send specific signals that control what type of cells stem cells become.
research The Auxin-Regulated CrRLK1L Kinase ERULUS Controls Cell Wall Composition During Root Hair Tip Growth
ERULUS controls root hair growth by regulating cell wall composition and pectin activity.