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
- Novel treatment for PXE: Recombinant ENPP1 enzyme therapy
- COX15 deficiency causes oocyte ferroptosis
- Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility
- Magnesium Decreases Urine Supersaturation but Not Calcium Oxalate Stone Formation in Genetic Hypercalciuric Stone-Forming Rats
- Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
- Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure
- 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
- 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
- Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
- Novel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification
- A novel homozygous variant in ZFP36L2 cause female infertility due to oocyte maturation defect
- Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility
- ADGB variants cause asthenozoospermia and male infertility
- Weighing the Evidence for the Roles of Plasma Versus Local Pyrophosphate in Ectopic Calcification Disorders
- Karyopherin α deficiency contributes to human preimplantation embryo arrest
- 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
- Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest
- Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma