233 S. 10th Street
Room 431
Philadelphia, PA 19107
Highlighted Publications
Huang, Jianhe, Ralph, Douglas, Boraldi, Federica, Quaglino, Daniela, Uitto, Jouni, Li, Qiaoli. 2022. Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum. Journal of Investigative Dermatology, Volume 142, Issue 8, 2022, Pages 2140-2148.e1, ISSN 0022-202X,
Ralph D., van de Wetering K., Uitto J., Li Q. Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification (2022). American Journal of Pathology, 192 (5), pp. 762 - 770.
Ralph D., Nitschke Y., Levine M.A., Caffet M., Wurst T., Saeidian A.H., Youssefian L., Vahidnezhad H., Terry S.F., Rutsch F., Uitto J., Li Q. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification (2022) PLoS Genetics, 18 (4), art. no. e1010192
Kowal L., Huang J., Luo H., Singh J., Snook A.E., Uitto J., Li Q. Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder (2022) Journal of Investigative Dermatology, 142 (4), pp. 1085 - 1093.
Saeidian A.H., Youssefian L., Huang J., Touati A., Vahidnezhad H., Kowal L., Caffet M., Wurst T., Singh J., Snook A.E., Ryu E., Fortina P., Terry S.F., Schoenecker J.G., Uitto J., Li Q. Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort (2022) Genetics in Medicine, 24 (1), pp. 75 - 86
Publications
- Novel treatment for PXE: Recombinant ENPP1 enzyme therapy
- COX15 deficiency causes oocyte ferroptosis
- Magnesium Decreases Urine Supersaturation but Not Calcium Oxalate Stone Formation in Genetic Hypercalciuric Stone-Forming Rats
- Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum
- Iatrogenic Hypertriglyceridemia when Treating Pityriasis Rubra Pilaris: An algorithm for Monitoring and Treatment during Retinoid Therapy
- Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes
- Novel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification
- Weighing the Evidence for the Roles of Plasma Versus Local Pyrophosphate in Ectopic Calcification Disorders
- The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals
- Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma
- Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum
- INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6−/− mouse model of pseudoxanthoma elasticum
- Comment on “Clinical practice guidelines for pseudoxanthoma elasticum (2017)”: The importance of mutation analysis
- Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification
- ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification
- Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum
- Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder
- Inorganic pyrophosphate is reduced in patients with systemic sclerosis
- Lipoid Proteinosis Due to Homozygous Deletion Mutation (c.735delTG) in the ECM1 Gene Presents with Seizures and Hoarseness but No Skin Involvement
- Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort