research Epidermolysis Bullosa Simplex 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.
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360-390 / 1000+ resultsresearch Ichthyosis Hystrix: A Rare Case in a Three-Day-Old Male Infant
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Sebaceous Gland Diseases: Clinical Picture, Risk Factors, and Treatment
Different sebaceous gland diseases can be treated with medications, hormone therapy, or surgical methods.
research Dermatopathia Pigmentosa Reticularis: A Rare Reticulate Pigmentary Disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
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 First Symposium on Natural Gene Therapy of the Skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research The Keratins and Their Disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
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.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Differential Expression of KRT83 Regulated by the Transcription Factor CAP1 in Chinese Tan Sheep
CAP1 decreases the expression of a hair-related protein in young Tan sheep's skin.
research Loss of Keratin K2 Expression Causes Aberrant Aggregation of K10, Hyperkeratosis, and Inflammation
Loss of keratin K2 causes skin problems and inflammation.
research The Relationship Between Keratin 18 and Epithelial-Derived Tumors: As a Diagnostic Marker, Prognostic Marker, and Its Role in Tumorigenesis
Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.
research Two Mouse Mutations Mapped to Chromosome 11 with Differing Morphologies but Similar Progressive Inflammatory Alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research Natural Course of Epidermolysis Bullosa Simplex with Mottled Pigmentation in a Japanese Family with the p.P25L Mutation in KRT5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Two Mutations at KRT74 and EDAR Synergistically Drive the Fine-Wool Production in Chinese Sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Transcriptome Analysis of Improved Wool Production in Skin-Specific Transgenic Sheep Overexpressing Ovine β-Catenin
Genetically modified sheep with more β-catenin grew more wool without changing the wool's length or thickness.
research Human Keratinocytes Derived from the Bulge Region of Hair Follicles Are Refractory to Differentiation
Hair follicle cells resist turning into skin cells.
research Diffuse Partial Woolly Hair in a Patient with Epidermolysis Bullosa Simplex with Mottled Pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures
The study found that immune responses disrupt hair growth cycles, causing hair loss in alopecia areata.
research Gene-Knockout Mice With Abnormal Epidermal and Hair Follicular Development
Knocking out certain genes in mice helps understand skin and hair growth problems.
research Single-Cell Transcriptomics Reveals the Molecular Anatomy of Sheep Hair Follicle Heterogeneity and Wool Curvature
The research identified genes that explain why some sheep have curly wool and others have straight wool.
research Discovery of Genes and Proteins Possibly Regulating Mean Wool Fibre Diameter Using cDNA Microarray and Proteomic Approaches
Researchers identified genes and proteins that may influence wool thickness in sheep.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
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 Research Techniques Made Simple: Zebrafish Models for Human Dermatologic Disease
Zebrafish are useful for studying and developing treatments for human skin diseases.
research Integration Analysis of Hair Follicle Transcriptome and Proteome Reveals the Mechanisms Regulating Wool Fiber Diameter in Angora Rabbits
The research identified key proteins that affect wool fiber thickness in Angora rabbits.
research Functional Redundancy of Frizzled 3 and Frizzled 6 in Planar Cell Polarity Control of Mouse Hair Follicles
Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.