{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:18:16Z","timestamp":1790817496136,"version":"4.1.0"},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Higher Education Commission (HEC), Islamabad, Pakistan"},{"name":"HEC-Indigenous PhD scholarships"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The International Journal of Biochemistry &amp; Cell Biology"],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1016\/j.biocel.2018.07.004","type":"journal-article","created":{"date-parts":[[2018,7,18]],"date-time":"2018-07-18T11:14:20Z","timestamp":1531912460000},"page":"76-86","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"special_numbering":"C","title":["Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux"],"prefix":"10.1016","volume":"102","author":[{"family":"Irfanullah","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Zeb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naila","family":"Shinwari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khadim","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syed Zohaib Tayyab","family":"Gilani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadullah","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keun Woo","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syed Irfan","family":"Raza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shabir","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khurram","family":"Liaqat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1541-7258","authenticated-orcid":false,"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.biocel.2018.07.004_bib0005","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.softx.2015.06.001","article-title":"GROMACS: High performance molecular simulations through multi-level parallelism from laptops to supercomputers","volume":"1","author":"Abraham","year":"2015","journal-title":"SoftwareX."},{"key":"10.1016\/j.biocel.2018.07.004_bib0010","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1104\/pp.16.00569","article-title":"A Single Amino-Acid Substitution in the Sodium Transporter HKT1 Associated with Plant Salt Tolerance","volume":"171","author":"Ali","year":"2016","journal-title":"Plant Physiol."},{"issue":"4","key":"10.1016\/j.biocel.2018.07.004_bib0015","doi-asserted-by":"crossref","first-page":"E713","DOI":"10.1210\/jc.2013-3525","article-title":"Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature","volume":"99","author":"Amano","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.biocel.2018.07.004_bib0020","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1086\/422013","article-title":"Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux","volume":"75","author":"Bartels","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.biocel.2018.07.004_bib0025","doi-asserted-by":"crossref","first-page":"01410","DOI":"10.1063\/1.2408420","article-title":"Parrinello, M. Canonical sampling through velocity rescaling","volume":"126","author":"Bussi","year":"2007","journal-title":"J Chem Phys."},{"issue":"suppl 1","key":"10.1016\/j.biocel.2018.07.004_bib0030","first-page":"102","article-title":"Acromesomelic dysplasia type Maroteaux: broadening the spectrum of NPR2 mutations","volume":"78","author":"Castro-Feij\u00f3o","year":"2012","journal-title":"Horm. Res"},{"key":"10.1016\/j.biocel.2018.07.004_bib0035","doi-asserted-by":"crossref","first-page":"10089","DOI":"10.1063\/1.464397","article-title":"Particle Mesh Ewald: an N\u22c5 log (N) method for Ewald sums in large systems","volume":"98","author":"Darden","year":"1993","journal-title":"J Chem Phys."},{"key":"10.1016\/j.biocel.2018.07.004_bib0040","doi-asserted-by":"crossref","first-page":"11385","DOI":"10.1074\/jbc.M115.704015","article-title":"Catalytically active guanylyl cyclase B requires endoplasmic reticulum-mediated glycosylation, and mutations that inhibit this process cause dwarfism","volume":"291","author":"Dickey","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.biocel.2018.07.004_bib0045","doi-asserted-by":"crossref","first-page":"6573","DOI":"10.1021\/bi012159+","article-title":"Intrinsic disorder and protein function","volume":"41","author":"Dunker","year":"2002","journal-title":"Biochemistry."},{"issue":"2","key":"10.1016\/j.biocel.2018.07.004_bib0050","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1385\/MB:23:2:139","article-title":"Bioinformatics methods to predict protein structure and function","volume":"23","author":"Edwards","year":"2003","journal-title":"Mol. Biotechnol."},{"issue":"10","key":"10.1016\/j.biocel.2018.07.004_bib0055","doi-asserted-by":"crossref","first-page":"4009","DOI":"10.1210\/jc.2007-1101","article-title":"Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development","volume":"92","author":"Hachiya","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"12","key":"10.1016\/j.biocel.2018.07.004_bib0060","doi-asserted-by":"crossref","first-page":"E1988","DOI":"10.1210\/jc.2013-2358","article-title":"An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities","volume":"98","author":"Hannema","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"8","key":"10.1016\/j.biocel.2018.07.004_bib0065","doi-asserted-by":"crossref","first-page":"E1133","DOI":"10.1210\/jc.2015-1612","article-title":"Heterozygous NPR2 mutations cause disproportionate short stature, similar to L\u00e9ri-Weill Dyschondrosteosis","volume":"100","author":"Hisado-Oliva","year":"2015","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"1","key":"10.1016\/j.biocel.2018.07.004_bib0070","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/nmeth.4067","article-title":"CHARMM36m: an improved force field for folded and intrinsically disordered proteins","volume":"14","author":"Huang","year":"2017","journal-title":"Nat. Methods"},{"issue":"4","key":"10.1016\/j.biocel.2018.07.004_bib0075","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1111\/ahg.12116","article-title":"Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families","volume":"79","author":"Irfanullah","year":"2015","journal-title":"Ann. Hum. Genet."},{"issue":"1","key":"10.1016\/j.biocel.2018.07.004_bib0080","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/1471-2350-13-44","article-title":"Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux","volume":"13","author":"Khan","year":"2012","journal-title":"BMC. Med. Genet."},{"issue":"4","key":"10.1016\/j.biocel.2018.07.004_bib0085","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1161\/01.CIR.86.4.1081","article-title":"Molecular biology of the natriuretic peptides and their receptors","volume":"86","author":"Koller","year":"1992","journal-title":"Circulation."},{"key":"10.1016\/j.biocel.2018.07.004_bib0090","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1096\/fasebj.7.2.7680013","article-title":"Intracellular cyclic GMP receptor proteins","volume":"7","author":"Lincoln","year":"1993","journal-title":"FASEB. J."},{"issue":"8","key":"10.1016\/j.biocel.2018.07.004_bib0095","doi-asserted-by":"crossref","first-page":"e42180","DOI":"10.1371\/journal.pone.0042180","article-title":"An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene","volume":"7","author":"Miura","year":"2012","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.biocel.2018.07.004_bib0100","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/ajmg.a.36218","article-title":"Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene","volume":"164 A","author":"Miura","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.biocel.2018.07.004_bib0105","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1210\/jc.2005-1949","article-title":"Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature","volume":"91","author":"Olney","year":"2006","journal-title":"J. Clin. Endocr. Metab."},{"key":"10.1016\/j.biocel.2018.07.004_bib0110","doi-asserted-by":"crossref","first-page":"7182","DOI":"10.1063\/1.328693","article-title":"Polymorphic transitions in single crystals: a new molecular dynamics method","volume":"52","author":"Parrinello","year":"1981","journal-title":"J Appl Phys."},{"issue":"16","key":"10.1016\/j.biocel.2018.07.004_bib0115","doi-asserted-by":"crossref","first-page":"4164","DOI":"10.1073\/pnas.1715896115","article-title":"Structural dynamics is a determinant of the functional significance of missense variants","volume":"115","author":"Ponzoni","year":"2018","journal-title":"Proc Natl Acad Sci U S A."},{"key":"10.1016\/j.biocel.2018.07.004_bib0120","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0022-2836(63)80023-6","article-title":"Stereochemistry of polypeptide chain configurations","volume":"7","author":"Ramachandran","year":"1963","journal-title":"J. mol. Biol"},{"issue":"2","key":"10.1016\/j.biocel.2018.07.004_bib0125","first-page":"219","article-title":"A novel mutation in NPR2 gene in a patient with acromesomelic dysplasia, Maroteaux type","volume":"26","author":"Sag","year":"2015","journal-title":"Genet. Couns."},{"key":"10.1016\/j.biocel.2018.07.004_bib0130","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1006\/jmbi.1993.1626","article-title":"Comparative protein modelling by satisfaction of spatial restraints","volume":"234","author":"Sali","year":"1993","journal-title":"J Mol. Biol."},{"key":"10.1016\/j.biocel.2018.07.004_bib0135","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1110\/ps.062416606","article-title":"Statistical potential for assessment and prediction of protein structures","volume":"15","author":"Shen","year":"2006","journal-title":"Protein Sci."},{"key":"10.1016\/j.biocel.2018.07.004_bib0140","doi-asserted-by":"crossref","first-page":"11545","DOI":"10.1038\/ncomms11545","article-title":"Evidence that phytochrome functions as a protein kinase in plant light signaling","volume":"7","author":"Shin","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.biocel.2018.07.004_bib0145","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/prot.340170404","article-title":"Recognition of errors in three-dimensional structures of proteins","volume":"17","author":"Sippl","year":"1993","journal-title":"Proteins."},{"key":"10.1016\/j.biocel.2018.07.004_bib0150","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0959-440X(95)80081-6","article-title":"Knowledge-based potentials for proteins","volume":"5","author":"Sippl","year":"1995","journal-title":"Curr. Opin. Struc. Biol."},{"issue":"14","key":"10.1016\/j.biocel.2018.07.004_bib0155","doi-asserted-by":"crossref","first-page":"14288","DOI":"10.1074\/jbc.C500024200","article-title":"A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn\/cn mouse","volume":"280","author":"Tsuji","year":"2005","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.biocel.2018.07.004_bib0160","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.bbrc.2008.08.139","article-title":"Hypomorphic mutation in mouse Nppc gene causes retarded bone growth due to impaired endochondral ossification","volume":"376","author":"Tsuji","year":"2008","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"5","key":"10.1016\/j.biocel.2018.07.004_bib0165","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1006\/jmbi.2001.4922","article-title":"Structural insights into the ligand binding domains of membrane bound guanylyl cyclases and natriuretic peptide receptors","volume":"311","author":"van den Akker","year":"2001","journal-title":"J. Mol. Biol."},{"issue":"10","key":"10.1016\/j.biocel.2018.07.004_bib0170","doi-asserted-by":"crossref","first-page":"E1636","DOI":"10.1210\/jc.2013-2142","article-title":"Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature","volume":"98","author":"Vasques","year":"2013","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"4","key":"10.1016\/j.biocel.2018.07.004_bib0175","first-page":"222","article-title":"Role of the natriuretic peptide system in normal growth and growth disorders","volume":"82","author":"Vasques","year":"2014","journal-title":"Hormone Molecular Biology and Clinical Investigation"},{"key":"10.1016\/j.biocel.2018.07.004_bib0180","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/nbt.2106","article-title":"Three-dimensional reconstruction of protein networks provides insight into human genetic disease","volume":"30","author":"Wang","year":"2012","journal-title":"Nat. Biotechnol."},{"issue":"4","key":"10.1016\/j.biocel.2018.07.004_bib0185","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1002\/humu.22773","article-title":"Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature","volume":"36","author":"Wang","year":"2015","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.biocel.2018.07.004_bib0190","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1002\/ajmg.a.37463","article-title":"Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports","volume":"170A","author":"Wang","year":"2016","journal-title":"Am. J. Med Genet. A."}],"container-title":["The International Journal of Biochemistry &amp; Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1357272518301547?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1357272518301547?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T07:11:42Z","timestamp":1761203502000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1357272518301547"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":38,"alternative-id":["S1357272518301547"],"URL":"https:\/\/doi.org\/10.1016\/j.biocel.2018.07.004","relation":{},"ISSN":["1357-2725"],"issn-type":[{"value":"1357-2725","type":"print"}],"subject":[],"published":{"date-parts":[[2018,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux","name":"articletitle","label":"Article Title"},{"value":"The International Journal of Biochemistry & Cell Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.biocel.2018.07.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}