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Results: 1 to 20 of 106

1.

An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.

Hannema SE, van Duyvenvoorde HA, Premsler T, Yang RB, Mueller TD, Gassner B, Oberwinkler H, Roelfsema F, Santen GW, Prickett T, Kant SG, Verkerk AJ, Uitterlinden AG, Espiner E, Ruivenkamp CA, Oostdijk W, Pereira AM, Losekoot M, Kuhn M, Wit JM.

J Clin Endocrinol Metab. 2013 Dec;98(12):E1988-98. doi: 10.1210/jc.2013-2358. Epub 2013 Sep 20.

PMID:
24057292
[PubMed - indexed for MEDLINE]
2.

Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.

Hachiya R, Ohashi Y, Kamei Y, Suganami T, Mochizuki H, Mitsui N, Saitoh M, Sakuragi M, Nishimura G, Ohashi H, Hasegawa T, Ogawa Y.

J Clin Endocrinol Metab. 2007 Oct;92(10):4009-14. Epub 2007 Jul 24.

PMID:
17652215
[PubMed - indexed for MEDLINE]
3.

A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B.

Robinson JW, Dickey DM, Miura K, Michigami T, Ozono K, Potter LR.

Bone. 2013 Oct;56(2):375-82. doi: 10.1016/j.bone.2013.06.024. Epub 2013 Jul 1.

PMID:
23827346
[PubMed - indexed for MEDLINE]
4.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.

Olney RC, Bükülmez H, Bartels CF, Prickett TC, Espiner EA, Potter LR, Warman ML.

J Clin Endocrinol Metab. 2006 Apr;91(4):1229-32. Epub 2005 Dec 29.

PMID:
16384845
[PubMed - indexed for MEDLINE]
5.

An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.

Miura K, Namba N, Fujiwara M, Ohata Y, Ishida H, Kitaoka T, Kubota T, Hirai H, Higuchi C, Tsumaki N, Yoshikawa H, Sakai N, Michigami T, Ozono K.

PLoS One. 2012;7(8):e42180. doi: 10.1371/journal.pone.0042180. Epub 2012 Aug 3.

PMID:
22870295
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse.

Tsuji T, Kunieda T.

J Biol Chem. 2005 Apr 8;280(14):14288-92. Epub 2005 Feb 18.

PMID:
15722353
[PubMed - indexed for MEDLINE]
Free Article
7.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.

Vasques GA, Amano N, Docko AJ, Funari MF, Quedas EP, Nishi MY, Arnhold IJ, Hasegawa T, Jorge AA.

J Clin Endocrinol Metab. 2013 Oct;98(10):E1636-44. doi: 10.1210/jc.2013-2142. Epub 2013 Sep 3.

PMID:
24001744
[PubMed - indexed for MEDLINE]
8.

Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.

Miura K, Kim OH, Lee HR, Namba N, Michigami T, Yoo WJ, Choi IH, Ozono K, Cho TJ.

Am J Med Genet A. 2014 Jan;164A(1):156-63. doi: 10.1002/ajmg.a.36218. Epub 2013 Nov 20.

PMID:
24259409
[PubMed - in process]
9.

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML.

Am J Hum Genet. 2004 Jul;75(1):27-34. Epub 2004 May 14.

PMID:
15146390
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

C-type natriuretic Peptide down-regulates expression of its cognate receptor in rat aortic smooth muscle cells.

Rahmutula D, Gardner DG.

Endocrinology. 2005 Nov;146(11):4968-74. Epub 2005 Aug 18.

PMID:
16109786
[PubMed - indexed for MEDLINE]
11.

A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

Geister KA, Brinkmeier ML, Hsieh M, Faust SM, Karolyi IJ, Perosky JE, Kozloff KM, Conti M, Camper SA.

Hum Mol Genet. 2013 Jan 15;22(2):345-57. doi: 10.1093/hmg/dds432. Epub 2012 Oct 12.

PMID:
23065701
[PubMed - indexed for MEDLINE]
Free Article
12.

Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias.

Yasoda A, Nakao K.

Endocr J. 2010;57(8):659-66. Epub 2010 Jun 18. Review.

PMID:
20567091
[PubMed - indexed for MEDLINE]
Free Article
13.

Gastrointestinal tract disorder in natriuretic peptide receptor B gene mutant mice.

Sogawa C, Abe A, Tsuji T, Koizumi M, Saga T, Kunieda T.

Am J Pathol. 2010 Aug;177(2):822-8. doi: 10.2353/ajpath.2010.091278. Epub 2010 Jul 8.

PMID:
20616347
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Bifurcation of axons from cranial sensory neurons is disabled in the absence of Npr2-induced cGMP signaling.

Ter-Avetisyan G, Rathjen FG, Schmidt H.

J Neurosci. 2014 Jan 15;34(3):737-47. doi: 10.1523/JNEUROSCI.4183-13.2014.

PMID:
24431432
[PubMed - indexed for MEDLINE]
Free Article
15.

Identification and characterization of the major phosphorylation sites of the B-type natriuretic peptide receptor.

Potter LR, Hunter T.

J Biol Chem. 1998 Jun 19;273(25):15533-9.

PMID:
9624142
[PubMed - indexed for MEDLINE]
Free Article
16.
17.

Lysophosphatidic acid inhibits C-type natriuretic peptide activation of guanylyl cyclase-B.

Abbey SE, Potter LR.

Endocrinology. 2003 Jan;144(1):240-6. Erratum in: Endocrinology. 2004 Mar;145(3):1301.

PMID:
12488350
[PubMed - indexed for MEDLINE]
18.

CNP/NPR2 signaling maintains oocyte meiotic arrest in early antral follicles and is suppressed by EGFR-mediated signaling in preovulatory follicles.

Tsuji T, Kiyosu C, Akiyama K, Kunieda T.

Mol Reprod Dev. 2012 Nov;79(11):795-802. doi: 10.1002/mrd.22114. Epub 2012 Sep 28.

PMID:
22987720
[PubMed - indexed for MEDLINE]
19.

Phosphorylation of the kinase homology domain is essential for activation of the A-type natriuretic peptide receptor.

Potter LR, Hunter T.

Mol Cell Biol. 1998 Apr;18(4):2164-72.

PMID:
9528788
[PubMed - indexed for MEDLINE]
Free PMC Article
20.
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