research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
Search
for
Sort by
Research
30 / 829 results 
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 Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates
Unani medicine and modern dermatology both offer treatments for ichthyosis, a condition causing dry, scaly skin.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research Proceedings of the Inaugural Pediatric Dermatology Research Alliance (PeDRA) 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 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 Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
Understanding embryologic layers improves skin disorder diagnosis and supports developing targeted therapies.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Abstracts
New treatments and diagnostic methods for various animal skin conditions showed promising results.
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 Index
The document is a detailed medical reference on skin and genetic disorders.
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 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 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 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 Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation
mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
research Identification of a novelPNPLA1mutation 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 Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Conditional knock out of N-WASP in keratinocytes causes skin barrier defects and atopic dermatitis-like inflammation
N-WASP is essential for healthy skin and preventing inflammation.
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 The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
A mutation in the KRT75 gene causes frizzle feathers in chickens.
research Loss of Keratin K2 Expression Causes Aberrant Aggregation of K10, Hyperkeratosis, and Inflammation
Loss of keratin K2 causes skin problems and inflammation.
research Sebaceous immunobiology - skin homeostasis, pathophysiology, coordination of innate immunity and inflammatory response and disease associations
Sebaceous glands play a key role in skin health, immunity, and various skin diseases.
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 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 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
Genetic factors influence hair traits like shape, color, and greying in Latin Americans.
research The Cytology and Cytochemistry of the Wool Follicle
Wool follicles are complex, involving interactions between different cell types and structures.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.