3,298 results on '"Uitto, Jouni"'
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2. DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity
3. Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management
4. Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians
5. Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency
6. Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum
7. Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes
8. Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification
9. Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder
10. Toward treatment and cure of epidermolysis bullosa
11. Knockdown of SDR9C7 Impairs Epidermal Barrier Function
12. Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder
13. Aberrant recruitment of leukocytes defines poor wound healing in patients with recessive dystrophic epidermolysis bullosa
14. Meeting Report: The First Global Congress on Epidermolysis Bullosa, EB2020 London: Toward Treatment and Cure
15. Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders
16. Meeting Report of the 4th Annual Meeting of the Chinese Society for Investigative Dermatology: Reflections on the Rise of Cutaneous Biology Research in China
17. Clinical Challenge and Call for Research on Keloid Disorder: Meeting Report from The 3rd International Keloid Research Foundation Symposium, Beijing 2019
18. Molecular Mechanisms of Glucocorticoid Action on Connective Tissue Metabolism
19. Disorders Associated with Collagen Biosynthesis
20. Genetic Diseases of Collagen in Animals
21. Pathology of the Elastic Fibers
22. Connective Tissue Disease
23. Fibrotic Skin Diseases
24. Applications of Spherical Nucleic Acid Nanoparticles as Delivery Systems
25. Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum
26. Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020
27. Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)
28. Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations
29. Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders
30. Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders
31. Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6–/– Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI
32. Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development
33. Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases
34. Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A
35. EB2017—Progress in Epidermolysis Bullosa Research toward Treatment and Cure
36. Kidney stones are prevalent in individuals with pseudoxanthoma elasticum, a genetic ectopic mineralization disorder
37. Trauma-Induced Nanohydroxyapatite Deposition in Skeletal Muscle is Sufficient to Drive Heterotopic Ossification
38. Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility
39. Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration
40. Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6–/– Mouse Model of PXE
41. Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa
42. Misbalanced CXCL12 and CCL5 Chemotactic Signals in Vitiligo Onset and Progression
43. Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum
44. Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium—2016
45. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity
46. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages
47. Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis
48. Pathology of the Extracellular Matrix in Atherosclerosis: In Vivo and in Vitro Models*
49. Pseudoxanthoma Elasticum: Mutations in the MRP6 Gene Encoding a Transmembrane ATP-Binding Cassette (ABC) Transporter
50. Ubinuclein, a Novel Nuclear Protein Interacting with Cellular and Viral Transcription Factors
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