Li Research
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
- Liver-directed base editing of ABCC6 prevents ectopic calcification in a variant-humanized mouse model of pseudoxanthoma elasticum
- Hexasodium Fytate (SNF472 or CSL525) Inhibits Ectopic Calcification in Various Pseudoxanthoma Elasticum and Calcinosis Cutis Animal Models
- Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs
- Novel treatment for PXE: Recombinant ENPP1 enzyme therapy
- 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
- Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders
- Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes
- Iatrogenic Hypertriglyceridemia when Treating Pityriasis Rubra Pilaris: An algorithm for Monitoring and Treatment during Retinoid Therapy
- 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
- Comment on “Clinical practice guidelines for pseudoxanthoma elasticum (2017)”: The importance of mutation analysis
- INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6−/− mouse model of pseudoxanthoma elasticum
- 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
- Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder
- Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum