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Items: 1 to 20 of 89

1.

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.

Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR.

Hum Mol Genet. 2009 Jan 15;18(2):267-77. doi: 10.1093/hmg/ddn354. Epub 2008 Oct 22.

2.

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.

3.

Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.

Irfanullah, Umair M, Khan S, Ahmad W.

Ann Hum Genet. 2015 Jul;79(4):238-44. doi: 10.1111/ahg.12116. Epub 2015 May 11.

PMID:
25959430
4.

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.

Khan S, Ali RH, Abbasi S, Nawaz M, Muhammad N, Ahmad W.

BMC Med Genet. 2012 Jun 12;13:44.

5.

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
6.

Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.

Amano N, Mukai T, Ito Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T.

J Clin Endocrinol Metab. 2014 Apr;99(4):E713-8. doi: 10.1210/jc.2013-3525. Epub 2014 Jan 28.

PMID:
24471569
7.

Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.

Wang W, Song MH, Miura K, Fujiwara M, Nawa N, Ohata Y, Kitaoka T, Kubota T, Namba N, Jin DK, Kim OH, Ozono K, Cho TJ.

Am J Med Genet A. 2016 Feb;170A(2):426-34. doi: 10.1002/ajmg.a.37463. Epub 2015 Nov 14.

PMID:
26567084
8.

Forced homodimerization by site-directed mutagenesis alters guanylyl cyclase activity of natriuretic peptide receptor B.

Langenickel T, Buttgereit J, Pagel I, Dietz R, Willenbrock R, Bader M.

Hypertension. 2004 Feb;43(2):460-5. Epub 2003 Dec 22.

9.

Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions.

Potter LR, Abbey-Hosch S, Dickey DM.

Endocr Rev. 2006 Feb;27(1):47-72. Epub 2005 Nov 16. Review.

PMID:
16291870
10.

Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.

John A, Kizhakkedath P, Al-Gazali L, Ali BR.

Gene. 2015 Apr 25;561(1):148-56. doi: 10.1016/j.gene.2015.02.038. Epub 2015 Feb 14.

PMID:
25688877
11.

C-type natriuretic peptide in growth: a new paradigm.

Olney RC.

Growth Horm IGF Res. 2006 Jul;16 Suppl A:S6-14. Epub 2006 May 22. Review.

PMID:
16716628
12.

Cardiac hypertrophy in transgenic rats expressing a dominant-negative mutant of the natriuretic peptide receptor B.

Langenickel TH, Buttgereit J, Pagel-Langenickel I, Lindner M, Monti J, Beuerlein K, Al-Saadi N, Plehm R, Popova E, Tank J, Dietz R, Willenbrock R, Bader M.

Proc Natl Acad Sci U S A. 2006 Mar 21;103(12):4735-40. Epub 2006 Mar 14.

13.

Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

Milhem RM, Ben-Salem S, Al-Gazali L, Ali BR.

Invest Ophthalmol Vis Sci. 2014 Apr 17;55(6):3423-31. doi: 10.1167/iovs.14-13885.

PMID:
24744206
14.

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
15.

Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism.

Dickey DM, Edmund AB, Otto NM, Chaffee TS, Robinson JW, Potter LR.

J Biol Chem. 2016 May 20;291(21):11385-93. doi: 10.1074/jbc.M115.704015. Epub 2016 Mar 15.

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18.

Reduced affinity of iodinated forms of Tyr0 C-type natriuretic peptide for rat natriuretic peptide receptor B.

Thibault G, Grove KL, Deschepper CF.

Mol Pharmacol. 1995 Dec;48(6):1046-53.

PMID:
8848004
19.

The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM).

Shapiro F, Barone L, Johnson A, Flynn E.

BMC Musculoskelet Disord. 2014 Oct 15;15:347. doi: 10.1186/1471-2474-15-347.

20.

Defective trafficking of nephrin missense mutants rescued by a chemical chaperone.

Liu XL, Doné SC, Yan K, Kilpeläinen P, Pikkarainen T, Tryggvason K.

J Am Soc Nephrol. 2004 Jul;15(7):1731-8.

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