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

[1]  Yang Yu,et al.  The Structure, Function and Regulation of Protein Tyrosine Phosphatase Receptor Type J and Its Role in Diseases , 2022, Cells.

[2]  T. Battelino,et al.  Heterozygous NPR2 Variants in Idiopathic Short Stature , 2022, Genes.

[3]  Fa-Xing Yu,et al.  Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature , 2022, Cells.

[4]  X. Tu,et al.  Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type , 2022, Frontiers in Genetics.

[5]  Hui Zhou,et al.  MAP3K1 Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development , 2022, Frontiers in Genetics.

[6]  Hong Chen,et al.  NPR2 gene variants in familial short stature: a single-center study , 2021, Journal of pediatric endocrinology & metabolism : JPEM.

[7]  Y. Mori,et al.  C-type natriuretic peptide facilitates autonomic Ca2+ entry in growth plate chondrocytes for stimulating bone growth , 2021, bioRxiv.

[8]  Yiping Shen,et al.  A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children , 2021, The Journal of clinical endocrinology and metabolism.

[9]  S. Castellana,et al.  Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia , 2020, Genes.

[10]  H. Pan,et al.  Clinical Characteristics of short stature patients with NPR2 mutation and the therapeutic response to rhGH. , 2020, The Journal of clinical endocrinology and metabolism.

[11]  M. Levine,et al.  Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations. , 2020, The Journal of clinical endocrinology and metabolism.

[12]  J. Silke Faculty Opinions recommendation of DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability. , 2020, Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature.

[13]  M. Faienza,et al.  Growth plate gene involment and isolated short stature , 2020, Endocrine.

[14]  P. Kučerová,et al.  NPR2 variants are frequent among children with familiar short stature and respond well to growth hormone therapy. , 2020, The Journal of clinical endocrinology and metabolism.

[15]  C. Gong,et al.  Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature , 2019, Orphanet Journal of Rare Diseases.

[16]  K. Ozono,et al.  CREB activation in hypertrophic chondrocytes is involved in the skeletal overgrowth in epiphyseal chondrodysplasia Miura type caused by activating mutations of natriuretic peptide receptor B , 2018, Human molecular genetics.

[17]  C. Botti,et al.  Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia , 2018, Case reports in endocrinology.

[18]  Douglas E. V. Pires,et al.  DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability , 2018, Nucleic Acids Res..

[19]  Reece K. Hart,et al.  HGVS Recommendations for the Description of Sequence Variants: 2016 Update , 2016, Human mutation.

[20]  J. Argente Challenges in the Management of Short Stature , 2015, Hormone Research in Paediatrics.

[21]  M. Phillip,et al.  Short and tall stature: a new paradigm emerges , 2015, Nature Reviews Endocrinology.

[22]  David S. Goodsell,et al.  AutoDockFR: Advances in Protein-Ligand Docking with Explicitly Specified Binding Site Flexibility , 2015, PLoS Comput. Biol..

[23]  Gabriela A. Vasques,et al.  Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders , 2014, Hormone Research in Paediatrics.

[24]  Jaroslav Bendl,et al.  PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations , 2014, PLoS Comput. Biol..

[25]  A. Verkerk,et al.  An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities. , 2013, The Journal of clinical endocrinology and metabolism.

[26]  Gabriela A. Vasques,et al.  Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature. , 2013, The Journal of clinical endocrinology and metabolism.

[27]  K. Chihara,et al.  Standardized centile curves and reference intervals of serum insulin-like growth factor-I (IGF-I) levels in a normal Japanese population using the LMS method. , 2012, Endocrine journal.

[28]  Stefano Pascarella,et al.  PyMod: sequence similarity searches, multiple sequence-structure alignments, and homology modeling within PyMOL , 2012, BMC Bioinformatics.

[29]  Anita R. Maguire,et al.  Confab - Systematic generation of diverse low-energy conformers , 2011, J. Cheminformatics.

[30]  K. Roy,et al.  Chemometric modeling, docking and in silico design of triazolopyrimidine-based dihydroorotate dehydrogenase inhibitors as antimalarials. , 2010, European journal of medicinal chemistry.

[31]  C. Ji,et al.  [Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years]. , 2009, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[32]  A. Olson,et al.  AutoDock Vina: Improving the speed and accuracy of docking with a new scoring function, efficient optimization, and multithreading , 2009, J. Comput. Chem..

[33]  W. Wilcox,et al.  C-natriuretic peptide: an important regulator of cartilage. , 2007, Molecular genetics and metabolism.

[34]  Y. Kamei,et al.  Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. , 2007, The Journal of clinical endocrinology and metabolism.

[35]  D. Dickey,et al.  Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. , 2006, Endocrine reviews.

[36]  H. Prats,et al.  Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis , 2005, Journal of Cell Science.

[37]  N. Tamura,et al.  Regulation of the Guanylyl Cyclase-B Receptor by Alternative Splicing* , 2003, Journal of Biological Chemistry.

[38]  Gabriela A. Vasques,et al.  Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2 , 2017, Journal of pediatric endocrinology & metabolism : JPEM.

[39]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..