Marx SJ - Search Results

1

Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.

Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN. Pidasheva S, et al. Among authors: marx sj. Hum Mol Genet. 2005 Jun 15;14(12):1679-90. doi: 10.1093/hmg/ddi176. Epub 2005 May 6. Hum Mol Genet. 2005. PMID: 15879434

2

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK. Guan B, et al. Among authors: marx sj. Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. doi: 10.1016/j.ajhg.2016.08.018. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745835 Free PMC article.

3

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM, et al. Pollak MR, et al. Among authors: marx sj. J Clin Invest. 1994 Mar;93(3):1108-12. doi: 10.1172/JCI117062. J Clin Invest. 1994. PMID: 8132750 Free PMC article.

4

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.

Simonds WF, James-Newton LA, Agarwal SK, Yang B, Skarulis MC, Hendy GN, Marx SJ. Simonds WF, et al. Among authors: marx sj. Medicine (Baltimore). 2002 Jan;81(1):1-26. doi: 10.1097/00005792-200201000-00001. Medicine (Baltimore). 2002. PMID: 11807402 Free article. Review. No abstract available.

5

Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.

Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ. Simonds WF, et al. Among authors: marx sj. J Clin Endocrinol Metab. 2004 Jan;89(1):96-102. doi: 10.1210/jc.2003-030675. J Clin Endocrinol Metab. 2004. PMID: 14715834

6

The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3.

Agarwal SK, Simonds WF, Marx SJ. Agarwal SK, et al. Among authors: marx sj. Mol Cancer. 2008 Aug 7;7:65. doi: 10.1186/1476-4598-7-65. Mol Cancer. 2008. PMID: 18687124 Free PMC article.

7

Hereditary hormone excess: genes, molecular pathways, and syndromes.

Marx SJ, Simonds WF. Marx SJ, et al. Endocr Rev. 2005 Aug;26(5):615-61. doi: 10.1210/er.2003-0037. Epub 2005 Jan 4. Endocr Rev. 2005. PMID: 15632315 Review.

8

Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression.

Woodard GE, Lin L, Zhang JH, Agarwal SK, Marx SJ, Simonds WF. Woodard GE, et al. Among authors: marx sj. Oncogene. 2005 Feb 10;24(7):1272-6. doi: 10.1038/sj.onc.1208274. Oncogene. 2005. PMID: 15580289

9

Hyperparathyroidism in hereditary syndromes: special expressions and special managements.

Marx SJ, Simonds WF, Agarwal SK, Burns AL, Weinstein LS, Cochran C, Skarulis MC, Spiegel AM, Libutti SK, Alexander HR Jr, Chen CC, Chang R, Chandrasekharappa SC, Collins FS. Marx SJ, et al. J Bone Miner Res. 2002 Nov;17 Suppl 2:N37-43. J Bone Miner Res. 2002. PMID: 12412776 Review.

10

Editorial: Imaging to detect early endocrine cancers.

Marx SJ, Simonds WF. Marx SJ, et al. J Clin Endocrinol Metab. 2006 Aug;91(8):2861-3. doi: 10.1210/jc.2006-1226. J Clin Endocrinol Metab. 2006. PMID: 16894022 No abstract available.

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