research The Role of AUTS2 in Neurodevelopment and Human Evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
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research Biomedical Engineering Approaches for the Delivery of JAGGED1 as a Potential Tissue Regenerative Therapy
JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research References
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Conditional Activin Receptor Type 1B (Acvr1b) Knockout Mice Reveal Hair Loss Abnormality
Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
research Role of the Wnt Signaling Pathway in Keratoacanthoma
The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Dysregulation of Grainyhead-Like 3 Expression Causes Widespread Developmental Defects
Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
research Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
FGF5 gene mutations cause long hair in domestic cats.
research Cell Death in Skin Function, Inflammation, and Disease
Different types of cell death affect skin health and inflammation, and understanding them could improve treatments for skin diseases.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Female-Patterned Alopecia in Teenage Brothers with Unusual Histologic Features
Two teenage brothers had a rare, treatment-resistant form of female-pattern hair loss with unusual scalp changes.
research Revisiting the Significance of Keratin Expression in Complex Epithelia
Keratin gene expression helps understand different types of skin cells and their development, and should be used carefully as biological markers.
research Identification of the C-Terminal Tail Domain of AHF/Trichohyalin as the Critical Site for Modulation of the Keratin Filamentous Meshwork in the Keratinocyte
The C-terminal tail of AHF/trichohyalin is essential for organizing keratin filaments in keratinocytes.
research Self-Consistent Field Theory for the Interactions Between Keratin Intermediate Filaments
Keratin filaments' elasticity is influenced by their terminal domains and surrounding medium.
research A Detailed Mapping of the Readily Accessible Disulfide Bonds in the Cortex of Wool Fibers
Researchers found that the most reachable bonds in wool fibers are near the ends of certain proteins, which help stabilize the fiber's structure.
research Bone Metabolism in Patients With Hidradenitis Suppurativa: A Case-Control Study
People with hidradenitis suppurativa often have lower vitamin D levels, weaker hip bones, and altered bone metabolism markers.
research Minoxidil May Suppress Androgen Receptor-Related Functions
Minoxidil can reduce functions related to androgen receptors.
research GLI2-Specific Transcriptional Activation of the Bone Morphogenetic Protein/Activin Antagonist Follistatin in Human Epidermal Cells
GLI2 increases follistatin production in human skin cells.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Mouse Models with a Disrupted PTHrP Gene or a Disrupted PTH Gene (PTH−/− Mice)
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
research Hair Keratinization in Health and Disease
Understanding intermediate filaments helps explain hair health and related diseases.
research Structures of Get3D Reveal a Distinct Architecture Associated with the Emergence of Photosynthesis
Get3d protein helps maintain photosynthesis in plants and photosynthetic bacteria.
research Expression of the L-Fucose Moiety on Infrainfundibular Follicular Keratinocytes of Terminal Follicles, Its Decreased Expression on Vellus and Indeterminate Follicles of Androgenetic Alopecia, and Re-Expression in Drug-Induced Hair Regrowth
Sugar molecule helps hair growth, less in balding, returns with treatment.
research A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Stress-Induced c-Jun-Dependent Vitamin D Receptor Activation Dissects the Non-Classical VDR Pathway from the Classical VDR Activity
Stress activates a special function of the Vitamin D receptor with the help of c-Jun, which can also prevent cell death.