research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
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420-450 / 741 results 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.
research KRT17 Promotes Endometrial Cancer Cell Migration and Angiogenesis by Regulating HIF-1α/VEGF Pathway
KRT17 may be a new target for endometrial cancer treatment because it helps cancer cells move and form new blood vessels.
research Case of Epidermolytic Ichthyosis with a Novel L157P Mutation in KRT10 Complicated by Hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Correction of Hair Shaft Defects Through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
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 Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
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 Keratin 17 in Disease Pathogenesis: From Cancer to Dermatoses
Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
research Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research p53 Is a Direct Transcriptional Repressor of Keratin 17: Lessons from a Rat Model of Radiation Dermatitis
The protein p53 directly reduces the production of Keratin 17, a skin and hair protein, in rats with radiation dermatitis.
research Association Analysis of Polymorphisms in Six Keratin Genes with Wool Traits in Sheep
Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
research Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene
Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
research Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness
Both gene and non-gene areas of DNA evolved to make some mammals hairless.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Isolated Autosomal Recessive Woolly Hair/Hypotrichosis: Genetics, Pathogenesis, and Therapies
Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
research The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets?
The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
research Early Dengue Virus Infection in Human Skin: A Cycle of Inflammation and Infectivity
Chicken feather gene mutation helps understand human hair disorders.
research Proteomics Analysis of the Secondary Hair Follicle Cycle in Liaoning Cashmere Goat
The study found specific proteins that could mark different growth stages of cashmere goat hair and may help improve cashmere production.
research 3D-SeboSkin Model for Human Ex Vivo Studies of Hidradenitis Suppurativa/Acne Inversa
Scientists created a 3D skin model to study a chronic skin disease and test treatments.
research Proteomics as a Tool to Improve Novel Insights into Skin Diseases: What We Know and Where We Should Be Going
Proteomics combined with other technologies can lead to a better understanding of skin diseases.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Single-Cell Sequencing Reveals Differential Cell Types in Skin Tissues of Liaoning Cashmere Goats and Key Genes Potentially Related to the Fineness of Cashmere Fiber
Certain genes are linked to the quality of cashmere in goats.
research Identification of the Key Proteins Associated With Different Hair Types in Sheep and Goats
Different proteins are linked to the varying thickness of sheep and goat hair types.
research Transcriptome Analysis Reveals the Genetic Basis Underlying the Development of Skin Appendages and Immunity in Hedgehog (Atelerix Albiventris)
Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
research The Transcriptional Regulator Prdm1 Is Essential for the Early Development of the Sensory Whisker Follicle and Is Linked to the Beta-Catenin First Dermal Signal
Prdm1 is necessary for early whisker development in mice but not for other hair, and its absence changes nerve and brain patterns related to whiskers.
research Differential Expression of Keratin and Keratin Associated Proteins Are Linked with Hair Loss Condition in Spontaneously Mutated Inbred Mice
Abnormal gene expression related to keratin causes hair loss in certain mice.
research Differential Expression of Keratin and Keratin-Associated Proteins Linked with Hair Loss in Spontaneously Mutated Inbred Mice
Hair loss in certain mice is linked to changes in keratin-related genes.