Affiliation: Cleveland Clinic Foundation
Lietman S, Ding C, Levine M. A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Joint Surg Am. 2005;87:2489-94 pubmed
..We therefore used PNA-clamping to detect low copy numbers of mutant GNAS alleles in DNA from peripheral blood cells from patients with McCune-Albright syndrome and fibrous dysplasia...
Lietman S, Goldfarb J, Desai N, Levine M. Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy. J Clin Endocrinol Metab. 2008;93:901-4 pubmed
..We describe herein a proband with AHO and severe skeletal deformities (including phocomelia) related to a novel GNAS mutation and the delivery of a male infant with homozygous normal GNAS genotype after PGD. ..
Lietman S, Tenenbaum Rakover Y, Jap T, Yi Chi W, De Ming Y, Ding C, et al
. A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. J Clin Endocrinol Metab. 2009;94:4372-9 pubmed publisher
..This study demonstrates the importance of genetic testing in FHH to distinguish between de novo and inherited mutations of the CASR gene and assist in management decisions. ..
Lietman S, Germain Lee E, Levine M. Hypercalcemia in children and adolescents. Curr Opin Pediatr. 2010;22:508-15 pubmed publisher
..Parathyroid surgery, the conventional treatment for adults with symptomatic primary hyperparathyroidism, is recommended for all children with primary hyperparathyroidism. ..
Correa D, Lietman S. Articular cartilage repair: Current needs, methods and research directions. Semin Cell Dev Biol. 2017;62:67-77 pubmed publisher
..Methods include engineering of tissue implants and we discuss the needs and options for tissue scaffolds, cell sources, and growth and differentiation factors to generate de novo or repair bona fide articular cartilage. ..
Lietman S, Kalinchinko N, Deng X, Kohanski R, Levine M. Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. Hum Mutat. 2006;27:717-8 pubmed
..1244G>A), p.D420E (c.1259G>A), and p.P418R (c.1253C>G)) increased activity of NFAT (nuclear factor of activated T-cells), an osteoclastogenic mediator, indicating that cherubism results from gain of function mutations in SH3BP2...
Lietman S, Prescott N, Hicks D, Westra W, Levine M. SH3BP2 is rarely mutated in exon 9 in giant cell lesions outside cherubism. Clin Orthop Relat Res. 2007;459:22-7 pubmed
..Although many multinucleated giant cell lesions of bone share histologic features, the primary genetic defect in cherubism and these other giant cell lesions appears different...
Lietman S, Yin L, Levine M. SH3BP2 is an activator of NFAT activity and osteoclastogenesis. Biochem Biophys Res Commun. 2008;371:644-8 pubmed publisher
..7 cells potentiates sRANKL-stimulated phosphorylation of PLCgamma1 and 2, thus providing a mechanistic pathway for the rapid translocation of NFATc1 into the nucleus and increased osteoclastogenesis in cherubism. ..
Lietman S, Yin L, Levine M. SH3BP2 mutations potentiate osteoclastogenesis via PLC?. J Orthop Res. 2010;28:1425-30 pubmed publisher
..The consequent activation of calcineurin and NFAT proteins induces the excessive osteoclastic phenotype of cherubism. ..