research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
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30 / 346 results research Key Factors in the Complex and Coordinated Network of Skin Keratinization: Their Significance and Involvement in Common Skin Conditions
Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research The Role of Tight Junctions in Skin Barrier Function and Dermal Absorption
Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Collodion Baby to Bathing Suit Ichthyosis: A 6-Year Follow-Up
A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
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.
research Cell Death by Cornification
Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
research Protease Activity, Localization, and Inhibition in the Human Hair Follicle
The study suggests that a new protease inhibitor can make hair harder to pull out, potentially reducing hair loss.
research Australasian Society for Dermatology Research Meeting, May 2006
The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Transglutaminase Activity Is Conserved in Stratified Epithelia and Skin Appendages of Mammals and Birds
Transglutaminase activity is important for skin and is found in both mammals and birds.
research Vitamin D in Dermatology and Cosmetology
Vitamin D is crucial for skin health and managing skin diseases.
research A Kaleidoscope of Keratin Gene Expression and the Mosaic of Its Regulatory Mechanisms
Keratin protein production in cells is controlled by a complex system that changes with cell type, health, and conditions like injury or cancer.
research Cell-Based Model Systems for Validation of Efficacy Claims for Cosmetic Ingredients
Cell-based models help test if cosmetic ingredients really work for hair growth and skin health.
research Identification of a Preferred Substrate Peptide for Transglutaminase 3 and Detection of In Situ Activity in Skin and Hair Follicles
The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
research Proprietary Herbal Extract Downregulates the Gene Expression of IL-1α in HaCaT Cells: Possible Implications Against Nonscarring Alopecia
A herbal extract may help treat certain types of hair loss by reducing a specific gene's activity.
research Transglutaminase-3 Enzyme: A Putative Actor in Human Hair Shaft Scaffolding?
TGase 3 helps build hair structure by forming strong bonds between proteins.
research Cystatin M/E Is a High Affinity Inhibitor of Cathepsin V and Cathepsin L by a Reactive Site Distinct from the Legumain-binding Site
Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.
research Xenobiotic-Metabolizing Enzymes in the Skin of Rat, Mouse, Pig, Guinea Pig, Man, and in Human Skin Models
Different species and human skin models vary in their skin enzyme activities, with pig skin and some models closely matching human skin, useful for safety assessments and understanding the skin's protective roles.
research Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function
Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Current Application of Achillea Millefolium L. Based on Uses Mentioned by Ibn Rushd: A Review
Modern research supports traditional uses of Yarrow for hair loss and skin issues.
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 Generation of iPS-Derived Model Cells for Analyses of Hair Shaft Differentiation
Researchers created a mouse cell line to study hair growth and test hair growth drugs.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.