research The Functional Diversity of Epidermal Keratins Revealed by the Partial Rescue of the Keratin 14 Null Phenotype by Keratin 16
K16 can partially replace K14 but causes hair loss and skin issues.
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research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
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 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 Keratins and Skin Disease: Genetic and Molecular Roles
Keratin mutations cause skin diseases and could lead to new treatments.
research Keratosis Follicularis Spinulosa Decalvans: A Family Study of Seven Male Cases and Six Female Carriers
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Nilotinib-Induced Keratosis Pilaris
Nilotinib can cause keratosis pilaris, a skin condition.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Harlequin Ichthyosis (ICHQ): A Juvenile Lethal Mouse Mutation with Ichthyosiform Dermatitis
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
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 A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Mechanical Anisotropy of Hair Affected by Genetic Diseases Highlights Structural Information Related to Differential Crosslinking in Keratins
research Subcutaneous Emphysema Resulting from Liquid Nitrogen Spray
Liquid nitrogen spray caused a temporary, harmless swelling under the skin in an elderly woman.
research Cross-Linked Features of Mouse Pelage Hair Resistant to Detergent Extraction
Some mutant mice have hair with abnormal cross-linking, mainly in the cuticle, not affecting other hair parts.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
research Harnessing Neuroendocrine Controls of Keratin Expression: A New Therapeutic Strategy for Skin Diseases?
Using neurohormones to control keratin can lead to new skin disease treatments.
research Expression Profiling Reveals Genes Involved in the Regulation of Wool Follicle Bulb Regression and Regeneration in Sheep
The research identified genes and pathways important for sheep wool growth and shedding.
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 Proteomic Characterization of Damaged Single Hairs Recovered After an Explosion for Protein-Based Human Identification
Explosions don't stop hair proteins from being used to identify people.
research Dermatological Manifestations of Obesity
Obese people are more likely to have certain skin conditions like dark patches, stretch marks, skin tags, and bumpy skin.
research Cicatricial Alopecias
Some hair loss disorders cause permanent loss due to scarring, and treatments like steroids don't always work well.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Oral Retinoids in Dermatology
Oral retinoids are effective for severe skin conditions but require careful use due to side effects.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
research Chemotherapy of Psoriasis and Other Skin Disorders with Oral Retinoids
Oral retinoids are effective for treating severe skin disorders but have reversible side effects and risks for pregnant women.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Congenital and Hereditary Skin Diseases in Bovines
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.