research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
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870-900 / 1000+ resultsresearch De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Spiny Keratoderma
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
research Selenoproteins Are Essential for Proper Keratinocyte Function and Skin Development
Selenoproteins are crucial for healthy skin and hair.
research Animal models of human skin disease
Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13 -Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation
The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
research The expanding significance of keratin intermediate filaments in normal and diseased epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research 1299 Live imaging of keratin network in stratum granulosum reveals dynamic cytoskeletal changes during cornification in mice in vivo
The keratin network in mouse skin changes during cornification and affects the skin's protective barrier.
research Keratin function and regulation in tissue homeostasis and pathogenesis
Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
research Keratins: Dynamic, flexible structural proteins of epithelial cells
Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
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 A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Human hair keratins
research Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes
FTase and GGTase-I are essential for skin keratinocyte health.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Deletion of the epidermis derived laminin γ1 chain leads to defects in the regulation of late hair morphogenesis
Deleting a specific protein in skin cells disrupts normal hair growth and development.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.