research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
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research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Molecular cloning, characterization, and expression of sheep FGF5 gene
Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Subchronic study of sperm morphology, genotoxic and mutagenic effect of Lepidium sativum seeds aqueous extract in vivo
High doses of Lepidium sativum seed extract are toxic and should be used with caution.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research The malignant capacity of skin tumours induced by expression of a mutant H-ras transgene depends on the cell type targeted
The risk of skin tumors becoming malignant depends on the specific skin cell type affected.
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 Surface modification and endothelialization of biomaterials as potential scaffolds for vascular tissue engineering applications
Improving artificial vascular grafts requires better materials and surface designs to reduce blood clotting and support blood vessel cell growth.
research Apoptosis in human skin development: Morphogenesis, periderm, and stem cells
Apoptosis is essential for human skin development and forming a functional epidermis.
research Wnt1/βcatenin injury response activates the epicardium and cardiac fibroblasts to promote cardiac repair
Wnt1/βcatenin signaling is crucial for heart repair after injury.
research Towards a molecular understanding of hair loss and its treatment
Future hair loss treatments should aim to extend hair growth, reactivate resting follicles, reverse shrinkage, and possibly create new follicles, with gene therapy showing promise.
research Hair follicle differentiation and regulation.
Hair follicle growth and development are controlled by specific genes and molecular signals.
research ATP-dependent chromatin remodeling during mammalian development
ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
research Noninvasive method for assessing the human circadian clock using hair follicle cells
Scientists found a new, less invasive way to study body clocks using hair cells, which shows shift workers' body clocks don't match their lifestyles.
research Human skin stem cells and the ageing process
Skin aging is due to impaired stem cell mobilization or fewer responsive stem cells.
research What’s Sex Got to Do With COVID-19? Gender-Based Differences in the Host Immune Response to Coronaviruses
Men generally have more severe COVID-19 cases and higher death rates than women due to biological differences.
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 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 Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research Gene Array Profiling and Immunomodulation Studies Define a Cell-Mediated Immune Response Underlying the Pathogenesis of Alopecia Areata in a Mouse Model and Humans
Alopecia areata is caused by an immune response, and targeting immune cells might help treat it.
research Genetic basis of skin appendage development
Hair, teeth, and mammary glands develop similarly at first but use different genes later.
research Development and homeostasis of the sebaceous gland
The document concludes that understanding the sebaceous gland's development and function is key to addressing related skin diseases and aging effects.
research Differentiation of Mouse Induced Pluripotent Stem Cells into a Multipotent Keratinocyte Lineage
Scientists turned mouse stem cells into skin cells that can grow into skin layers and structures.
research Wool Keratin-Associated Protein Genes in Sheep—A Review
Understanding wool keratin-associated proteins in sheep can help improve wool quality through selective breeding.
research Molecular basis of hypohidrotic ectodermal dysplasia: an update
Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.