research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
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research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Care of the Newborn with Ichthyosis
Newborns with ichthyosis need specific care based on their skin type.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Cornification
Cornification is the process where living skin cells die to create a protective barrier, and problems with it can cause skin diseases.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Index
The document is a detailed medical reference on skin and genetic disorders.
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 Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research Proceedings of the Inaugural Pediatric Dermatology Research Alliance Conference
The conference concluded with plans for joint research into children's skin conditions and emphasized the importance of collaboration and patient-focused research.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Skin-Specific Regulation of SREBP Processing and Lipid Biosynthesis by Glycerol Kinase 5
A gene called Gk5 controls lipid production in the skin and affects hair growth.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
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 Sebaceous Immunobiology: Skin Homeostasis, Innate Immunity Coordination, Inflammatory Response, and Disease Associations
Sebaceous glands play a key role in skin health, immunity, and various skin diseases.
research Loss of Keratin K2 Expression Causes Aberrant Aggregation of K10, Hyperkeratosis, and Inflammation
Loss of keratin K2 causes skin problems and inflammation.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
research Potential Factors Contributing to Androgenetic Alopecia
Male pattern baldness may be caused by factors like poor blood circulation, scalp tension, stress, and hormonal imbalances, but the exact causes are still unclear.
research Abstracts
New treatments and diagnostic methods for various animal skin conditions showed promising results.
research The Cytology and Cytochemistry of the Wool Follicle
Wool follicles are complex, involving interactions between different cell types and structures.
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 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 The Skin at Different Ages
Skin changes throughout life, from development before birth to aging effects like wrinkles, influenced by both genetics and environment.
research A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues
The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.