research New developments in the molecular treatment of ichthyosis: review of the literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
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360-390 / 1000+ results research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review
Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
research Deciphering the molecular drivers for cashmere/pashmina fiber production in goats: a comprehensive review
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
research Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research Frontal fibrosing alopecia: A review of disease pathogenesis
The cause of Frontal fibrosing alopecia, a type of hair loss, is complex, likely involving immune responses and genetics, but is not fully understood.
research Effects of SLC45A2 and GPNMB on Melanin Deposition Based on Transcriptome Sequencing in Chicken Feather Follicles
SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Identification of the Key Genes Associated with Different Hair Types in the Inner Mongolia Cashmere Goat
Key genes, including KRT39 and KRT74, influence hair length in Inner Mongolia cashmere goats.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.
research A review of genotrichoses and hair pathology associated with inherited skin diseases
Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
research TMT-Based Quantitative Proteomic Analysis Reveals the Effect of Bone Marrow Derived Mesenchymal Stem Cell on Hair Follicle Regeneration
Bone marrow stem cells and their medium help hair regrowth.
research The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.
research Characterization of hairless (Hr) and FGF5genes provides insights into the molecular basis of hair loss in cetaceans
Cetaceans lost hair due to changes in the Hr and FGF5 genes.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research The role of WNT10B in physiology and disease: A 10-year update
WNT10B is important for body functions and linked to diseases like osteoporosis, obesity, and cancer.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
research Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research Gene network analysis reveals candidate genes related with the hair follicle development in sheep
Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
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 Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Keratin 15 promotes a progenitor cell state in basal keratinocytes of skin epidermis
Keratin 15 helps maintain skin cell growth and repair.
research Biomedical applications of organoids in genetic diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.