research Keratins and disease at a glance
Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
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300-330 / 1000+ resultsresearch Directed Expression of Keratin 16 to the Progenitor Basal Cells of Transgenic Mouse Skin Delays Skin Maturation
Keratin 16 delays skin maturation and affects skin and hair development in mice.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Environmental Air Pollutants Affecting Skin Functions with Systemic Implications
Air pollution harms skin health and can worsen skin diseases.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Keratins 6, 16, and 17 in Health and Disease: A Summary of Recent Findings
Keratins 6, 16, and 17 increase in damaged or diseased skin and may help diagnose skin issues.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Two Mechanisms Regulate Keratin K15 Expression In Keratinocytes: Role of PKC/AP-1 and FOXM1 Mediated Signalling
Keratin 15 expression in skin cells is regulated by two mechanisms involving PKC/AP-1 and FOXM1.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
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 Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research YAP/TAZ Signalling Controls Epidermal Keratinocyte Fate
YAP and TAZ proteins control skin cell growth and repair.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research From structural resilience to cell specification — Intermediate filaments as regulators of cell fate
Intermediate filaments are crucial for cell differentiation and stem cell function.
research The origins of skin diversity: lessons from dermal fibroblasts
New research shows that skin diversity is influenced by different types of dermal fibroblasts and their development, especially involving the Wnt/β-catenin pathway.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Autophagy critically controls skin inflammation and apoptosis-induced stem cell activation
Autophagy helps control skin inflammation and cancer responses and regulates hair growth by affecting stem cell activity.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research Phytochemicals for Hair Health Targeting Growth Signaling Molecules in Hair Follicular Stem Cells: A New Strategy for Hair Growth
Natural extracts may promote hair growth with fewer side effects than conventional treatments.
research Hair and Nail Manifestations of Systemic Disease
Early baldness in men may indicate risks for obesity, metabolic syndrome, insulin resistance, and heart disease, similar to women with PCOS. Alopecia areata is often linked with autoimmune diseases and mental health issues. Certain hair disorders are due to genetic issues, and chemotherapy can cause hair loss through specific biological pathways. Iron deficiency's link to hair loss is still disputed.
research A State-of-the-Art Overview on (Epi)Genomics and Personalized Skin Rejuvenating Strategies
Personalized skin rejuvenation using genomics shows promise but needs more research.
research Treatment Survival and Reasons for Discontinuation in Patients with Recalcitrant Folliculitis Decalvans
Effective immunomodulatory treatments and a personalized approach are crucial for managing severe folliculitis decalvans.
research Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib
Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
research Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.