Literature DB >> 35528827

CNP-related Short and Tall Stature: A Close-knit Family of Growth Disorders.

Julian C Lui1, Jeffrey Baron1.   

Abstract

Entities:  

Keywords:  C-type natriuretic peptide; NPR-C; NPR3; Tall stature

Year:  2022        PMID： 35528827      PMCID： PMC9070793          DOI： 10.1210/jendso/bvac064

Source DB:  PubMed          Journal:  J Endocr Soc        ISSN： 2472-1972


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  8 in total

1.  Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).

Authors:  Jung Min Ko; Jun-Seok Bae; Jin Sun Choi; Kohji Miura; Hye Ran Lee; Ok-Hwa Kim; Nayoung K D Kim; Sun Kyung Oh; Keiichi Ozono; Choon-Ki Lee; In Ho Choi; Woong-Yang Park; Tae-Joon Cho
Journal:  Am J Med Genet A       Date:  2015-02-27       Impact factor: 2.802

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

Authors:  Sabine E Hannema; Hermine A van Duyvenvoorde; Thomas Premsler; Ruey-Bing Yang; Thomas D Mueller; Birgit Gassner; Heike Oberwinkler; Ferdinand Roelfsema; Gijs W E Santen; Timothy Prickett; Sarina G Kant; Annemieke J M H Verkerk; André G Uitterlinden; Eric Espiner; Claudia A L Ruivenkamp; Wilma Oostdijk; Alberto M Pereira; Monique Losekoot; Michaela Kuhn; Jan M Wit
Journal:  J Clin Endocrinol Metab       Date:  2013-09-20       Impact factor: 5.958

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

Authors:  Gabriela A Vasques; Naoko Amano; Ana J Docko; Mariana F A Funari; Elisangela P S Quedas; Mirian Y Nishi; Ivo J P Arnhold; Tomonobu Hasegawa; Alexander A L Jorge
Journal:  J Clin Endocrinol Metab       Date:  2013-09-03       Impact factor: 5.958

4.  Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

Authors:  Eveline Boudin; Tjeerd R de Jong; Tim C R Prickett; Bruno Lapauw; Kaatje Toye; Viviane Van Hoof; Ilse Luyckx; Aline Verstraeten; Hugo S A Heymans; Eelco Dulfer; Lut Van Laer; Ian R Berry; Angus Dobbie; Ed Blair; Bart Loeys; Eric A Espiner; Jan M Wit; Wim Van Hul; Peter Houpt; Geert R Mortier
Journal:  Am J Hum Genet       Date:  2018-07-19       Impact factor: 11.025

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

Authors:  Cynthia F Bartels; Hulya 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
Journal:  Am J Hum Genet       Date:  2004-05-14       Impact factor: 11.025

Review 6.  Recent research on the growth plate: Recent insights into the regulation of the growth plate.

Authors:  Julian C Lui; Ola Nilsson; Jeffrey Baron
Journal:  J Mol Endocrinol       Date:  2014-04-16       Impact factor: 5.098

7.  Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.

Authors:  Peter Lauffer; Eveline Boudin; Daniëlle C M van der Kaay; Saskia Koene; Arie van Haeringen; Vera van Tellingen; Wim Van Hul; Timothy C R Prickett; Geert Mortier; Eric A Espiner; Hermine A van Duyvenvoorde
Journal:  J Endocr Soc       Date:  2022-02-10
  8 in total

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