111C Uitto, Jouni J - Thomas Jefferson University - Thomas Jefferson University
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Jouni J. Uitto, MD, PhD

Contact Dr. Uitto

233 South Tenth Street
Bluemle Life Sciences Building, Suite 450
Philadelphia, PA 19107

(215) 503-5785

Most Recent Peer-reviewed Publications

  1. Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations
  2. Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene
  3. Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: A large deletion/insertion mutation in the enpp1 gene
  4. Juxta-articular joint-capsule mineralization in CD73 deficient mice: Similarities to patients with NT5E mutations
  5. Mutations in the ABCC6 gene as a cause of generalized arterial calcifica 1884 tion of infancy: Genotypic overlap with pseudoxanthoma elasticum
  6. Mouse models for pseudoxanthoma elasticum: Genetic and dietary modulation of the ectopic mineralization phenotypes
  7. Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; Pharmacological correction of the mislocalized proteins
  8. Zebrafish as a model system to study skin biology and pathology
  9. Altered MCM protein levels and autophagic flux in aged and systemic sclerosis dermal fibroblasts
  10. Phenotypic Characterization of the KK/HlJ Inbred Mouse Strain
  11. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes
  12. Heritable disorders of connective tissue: Introduction to mini-review cluster
  13. Ectopic mineralization disorders of the extracellular matrix of connective tissue: Molecular genetics and pathomechanisms of aberrant calcification
  14. Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: The Abcc6 tm1Jfk and Enpp1 asj mutant mice
  15. Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris
  16. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
  17. Changes in dermal fibroblasts from Abcc6-/- mice are present before and after the onset of ectopic tissue mineralization
  18. Mouse alopecia areata and heart disease: Know your mouse!
  19. Pseudoxanthoma elasticum: Diagnostic features, classification and treatment options
  20. Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum
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