Contact
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
- 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
- Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum
- Bi-Allelic variants in KCNU1 cause impaired acrosome reactions and male infertility
- 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