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Select item 103757561.

Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH

Hong Chen, Suping Zhang, Yunteng Sun, Jiao Chen, Ke Yuan, Ying Zhang, Xiaohong Yang, Xiangquan Lin, Ruimin Chen

Orphanet J Rare Dis. 2023; 18: 221. Published online 2023 Jul 27. doi: 10.1186/s13023-023-02757-8

PMCID:: PMC10375756

Abstract Article PDF–4.5M

Select item 92222192.

Heterozygous NPR2 Variants in Idiopathic Short Stature

Lana Stavber, Maria Joao Gaia, Tinka Hovnik, Barbara Jenko Bizjan, Maruša Debeljak, Jernej Kovač, Jasna Šuput Omladič, Tadej Battelino, Primož Kotnik, Klemen Dovč

Genes (Basel) 2022 Jun; 13(6): 1065. Published online 2022 Jun 15. doi: 10.3390/genes13061065

PMCID:: PMC9222219

Abstract Article PDF–416K

Select item 90245243.

Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature

Qiuyue Li, Xin Fan, Wei Lu, Chengjun Sun, Zhou Pei, Miaoying Zhang, Jinwen Ni, Jing Wu, Fa-Xing Yu, Feihong Luo

Cells. 2022 Apr; 11(8): 1265. Published online 2022 Apr 8. doi: 10.3390/cells11081265

PMCID:: PMC9024524

Abstract Article PDF–3.3M

Select item 74422784.

Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations

Patrick C Hanley, Harsh S Kanwar, Corine Martineau, Michael A Levine

J Clin Endocrinol Metab. 2020 Oct; 105(10): 3190–3202. Published online 2020 Jul 28. doi: 10.1210/clinem/dgaa491

PMCID:: PMC7442278

Abstract Article

Select item 73744435.

A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan)

Saima Mustafa, Zafrin Akhtar, Muhammad Latif, Mubashir Hassan, Muhammad Faisal, Furhan Iqbal

Genes Genomics. 2020; 42(8): 847–854. Published online 2020 Jun 6. doi: 10.1007/s13258-020-00955-3

PMCID:: PMC7374443

Abstract Article PDF–1.2M

Select item 70570906.

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations

Il Tae Hwang, Yusuke Mizuno, Naoko Amano, Hye Jin Lee, Young Suk Shim, Hyo‐Kyoung Nam, Young‐Jun Rhie, Seung Yang, Kee‐Hyoung Lee, Tomonobu Hasegawa, Min Jae Kang

Mol Genet Genomic Med. 2020 Mar; 8(3): e1146. Published online 2020 Jan 20. doi: 10.1002/mgg3.1146

PMCID:: PMC7057090

Abstract Article PDF–890K

Select item 44130127.

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

Jerid W. Robinson, Deborah M. Dickey, Kohji Miura, Toshimi Michigami, Keiichi Ozono, Lincoln R. Potter

Bone. Author manuscript; available in PMC 2015 Apr 29.

Published in final edited form as: Bone. 2013 Oct; 56(2): 375–382. Published online 2013 Jul 1. doi: 10.1016/j.bone.2013.06.024

PMCID:: PMC4413012

Abstract Article PDF–1.3M

Select item 43824118.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature

Sophie R. Wang, Christina M. Jacobsen, Heather Carmichael, Aaron B. Edmund, Jerid W. Robinson, Robert C. Olney, Timothy C. Miller, Jennifer E. Moon, Veronica Mericq, Lincoln R. Potter, Matthew L. Warman, Joel N. Hirschhorn, Andrew Dauber

Hum Mutat. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Hum Mutat. 2015 Apr; 36(4): 474–481. Published online 2015 Mar 16. doi: 10.1002/humu.22773

PMCID:: PMC4382411

Abstract Article PDF–398K

Select item 37959189.

Association of Genetic Variation with Gene Expression and Protein Abundance within the Natriuretic Peptide Pathway

David E. Lanfear, Bipin Sunkara, Jia Li, Sharad Rastogi, Ramesh C. Gupta, Badri Padhukasahasram, L. Keoki Williams, Hani N. Sabbah

J Cardiovasc Transl Res. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: J Cardiovasc Transl Res. 2013 Oct; 6(5): 826–833. Published online 2013 Jul 9. doi: 10.1007/s12265-013-9491-y

PMCID:: PMC3795918

Abstract Article PDF–929K

Select item 367303410.

Mutations in Tyr⁸⁰⁸ reveal a potential auto-inhibitory mechanism of guanylate cyclase-B regulation

Takeshi Katafuchi

Biosci Rep. 2013; 33(3): e00039. Prepublished online 2013 Apr 15. Published online 2013 May 24. doi: 10.1042/BSR20130025

PMCID:: PMC3673034

Abstract Article PDF–834K

Select item 345899411.

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

Saadullah Khan, Raja Hussain Ali, Sanaullah Abbasi, Muhammad Nawaz, Noor Muhammad, Wasim Ahmad

BMC Med Genet. 2012; 13: 44. Published online 2012 Jun 12. doi: 10.1186/1471-2350-13-44

PMCID:: PMC3458994

Abstract Article PDF–1.7M

Select item 341167812.

An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene

Kohji Miura, Noriyuki Namba, Makoto Fujiwara, Yasuhisa Ohata, Hidekazu Ishida, Taichi Kitaoka, Takuo Kubota, Haruhiko Hirai, Chikahisa Higuchi, Noriyuki Tsumaki, Hideki Yoshikawa, Norio Sakai, Toshimi Michigami, Keiichi Ozono

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

PMCID:: PMC3411678

Abstract Article PDF–693K

Select item 320193413.

Mendelian Randomization Study of B-Type Natriuretic Peptide and Type 2 Diabetes: Evidence of Causal Association from Population Studies

Roman Pfister, Stephen Sharp, Robert Luben, Paul Welsh, Inês Barroso, Veikko Salomaa, Aline Meirhaeghe, Kay-Tee Khaw, Naveed Sattar, Claudia Langenberg, Nicholas J. Wareham

PLoS Med. 2011 Oct; 8(10): e1001112. Published online 2011 Oct 25. doi: 10.1371/journal.pmed.1001112

PMCID:: PMC3201934

Abstract Article PDF–335K

Select item 290346414.

NPR-B natriuretic peptide receptors in human corneal epithelium: mRNA, immunohistochemistochemical, protein, and biochemical pharmacology studies

Parvaneh Katoli, Najam A. Sharif, Anupam Sule, Slobodan D. Dimitrijevich

Mol Vis. 2010; 16: 1241–1252. Published online 2010 Jul 7.

PMCID:: PMC2903464

Abstract Article PDF–2.4M

Select item 263877315.

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

Alistair N. Hume, Jens Buttgereit, Aydah M. Al-Awadhi, Sarah S. Al-Suwaidi, Anne John, Michael Bader, Miguel C. Seabra, Lihadh Al-Gazali, Bassam R. Ali

Hum Mol Genet. 2009 Jan 15; 18(2): 267–277. Published online 2008 Oct 22. doi: 10.1093/hmg/ddn354

PMCID:: PMC2638773

Abstract Article PDF–1.3M

Select item 137723816.

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

S G Kant, A Polinkovsky, S Mundlos, B Zabel, R T Thomeer, H M Zonderland, L Shih, A van Haeringen, M L Warman

Am J Hum Genet. 1998 Jul; 63(1): 155–162. doi: 10.1086/301917

PMCID:: PMC1377238

Summary PDF–1000K

Select item 118200417.

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

Cynthia F. Bartels, Hülya Bükülmez, Pius Padayatti, David K. Rhee, Conny van Ravenswaaij-Arts, Richard M. Pauli, Stefan Mundlos, David Chitayat, Ling-Yu Shih, Lihadh I. Al-Gazali, Sarina Kant, Trevor Cole, Jenny Morton, Valérie Cormier-Daire, Laurence Faivre, Melissa Lees, Jeremy Kirk, Geert R. Mortier, Jules Leroy, Bernhard Zabel, Chong Ae Kim, Yanick Crow, Nancy E. Braverman, Focco van den Akker, Matthew L. Warman

Am J Hum Genet. 2004 Jul; 75(1): 27–34. Published online 2004 May 14. doi: 10.1086/422013

PMCID:: PMC1182004

Abstract Article PDF–612K

Select item 941422218.

The pseudokinase domains of guanylyl cyclase–A and –B allosterically increase the affinity of their catalytic domains for substrate

Aaron B. Edmund, Timothy F. Walseth, Nicholas M. Levinson, Lincoln R. Potter

Sci Signal. Author manuscript; available in PMC 2022 Aug 26.

Published in final edited form as: Sci Signal. 2019 Jan 29; 12(566): eaau5378. Published online 2019 Jan 29. doi: 10.1126/scisignal.aau5378

PMCID:: PMC9414222

Abstract Article PDF–4.0M

Select item 547322519.

Skeletal overgrowth-causing mutations mimic an allosterically activated conformation of guanylyl cyclase-B that is inhibited by 2,4,6,-trinitrophenyl ATP

Deborah M. Dickey, Neil M. Otto, Lincoln R. Potter

J Biol Chem. 2017 Jun 16; 292(24): 10220–10229. Published online 2017 Apr 27. doi: 10.1074/jbc.M117.780536

PMCID:: PMC5473225

Abstract Article PDF–2.1M

Select item 441139820.

Guanylyl Cyclases A and B Are Asymmetric Dimers That Are Allosterically Activated by ATP Binding to the Catalytic Domain

Jerid W. Robinson, Lincoln R. Potter

Sci Signal. Author manuscript; available in PMC 2015 Apr 28.

Published in final edited form as: Sci Signal. 2012 Sep 4; 5(240): ra65. Published online 2012 Sep 4. doi: 10.1126/scisignal.2003253

PMCID:: PMC4411398

Abstract Article PDF–1.7M

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