Levine MA - Search Results

1

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.

Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA. Li Q, et al. Among authors: levine ma. J Invest Dermatol. 2014 Mar;134(3):658-665. doi: 10.1038/jid.2013.370. Epub 2013 Sep 5. J Invest Dermatol. 2014. PMID: 24008425 Free PMC article.

2

Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6^-/- Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI.

Li Q, Huang J, Pinkerton AB, Millan JL, van Zelst BD, Levine MA, Sundberg JP, Uitto J. Li Q, et al. Among authors: levine ma. J Invest Dermatol. 2019 Feb;139(2):360-368. doi: 10.1016/j.jid.2018.07.030. Epub 2018 Aug 18. J Invest Dermatol. 2019. PMID: 30130617 Free PMC article.

3

The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.

Li Q, Sundberg JP, Levine MA, Terry SF, Uitto J. Li Q, et al. Among authors: levine ma. Cell Cycle. 2015;14(7):1082-9. doi: 10.1080/15384101.2015.1007809. Cell Cycle. 2015. PMID: 25607347 Free PMC article.

4

Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy.

Li Q, Kingman J, Sundberg JP, Levine MA, Uitto J. Li Q, et al. Among authors: levine ma. J Invest Dermatol. 2016 Jan;136(1):275-283. doi: 10.1038/JID.2015.377. J Invest Dermatol. 2016. PMID: 26763447 Free PMC article.

5

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

Ralph D, Levine MA, Richard G, Morrow MM, Flynn EK, Uitto J, Li Q. Ralph D, et al. Among authors: levine ma. Hum Mutat. 2022 Sep;43(9):1183-1200. doi: 10.1002/humu.24391. Epub 2022 May 18. Hum Mutat. 2022. PMID: 35475527 Free PMC article. Review.

6

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q. Ralph D, et al. Among authors: levine ma. PLoS Genet. 2022 Apr 28;18(4):e1010192. doi: 10.1371/journal.pgen.1010192. eCollection 2022 Apr. PLoS Genet. 2022. PMID: 35482848 Free PMC article.

7

Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6^-/- ).

Li Q, Kingman J, Sundberg JP, Levine MA, Uitto J. Li Q, et al. Among authors: levine ma. Oncotarget. 2018 Jul 20;9(56):30721-30730. doi: 10.18632/oncotarget.10738. eCollection 2018 Jul 20. Oncotarget. 2018. PMID: 30112102 Free PMC article.

8

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).

Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA. Ferreira CR, et al. Among authors: levine ma. Genet Med. 2021 Feb;23(2):396-407. doi: 10.1038/s41436-020-00983-0. Epub 2020 Oct 2. Genet Med. 2021. PMID: 33005041 Free PMC article.

9

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

Li D, Tian L, Hou C, Kim CE, Hakonarson H, Levine MA. Li D, et al. Among authors: levine ma. J Clin Endocrinol Metab. 2016 May;101(5):2196-200. doi: 10.1210/jc.2016-1211. Epub 2016 Mar 10. J Clin Endocrinol Metab. 2016. PMID: 26963954 Free PMC article.

10

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA. Li D, et al. Among authors: levine ma. Eur J Hum Genet. 2015 Feb;23(2):264-6. doi: 10.1038/ejhg.2014.76. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781753 Free PMC article.

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