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For: Quintos JB, Guo MH, Dauber A. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene. J Pediatr Endocrinol Metab 2015;28:927-32. [PMID: 25741789 DOI: 10.1515/jpem-2014-0450] [Cited by in Crossref: 34] [Cited by in F6Publishing: 33] [Article Influence: 5.7] [Reference Citation Analysis]
Number Citing Articles
1 Wu S, Wang C, Cao Q, Zhu Z, Liu Q, Gu X, Zheng B, Zhou W, Jia Z, Gu W, Li X. The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation. Front Genet 2022;13:891040. [PMID: 35620465 DOI: 10.3389/fgene.2022.891040] [Reference Citation Analysis]
2 Yin LP, Zheng HX, Zhu H. Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review. World J Clin Cases 2022; 10(9): 2809-2815 [DOI: 10.12998/wjcc.v10.i9.2809] [Reference Citation Analysis]
3 Sun J, Jiang L, Liu G, Ma C, Zheng J, Niu L. Evaluation of Growth Hormone Therapy in Seven Chinese Children With Familial Short Stature Caused by Novel ACAN Variants. Front Pediatr 2022;10:819074. [PMID: 35330881 DOI: 10.3389/fped.2022.819074] [Reference Citation Analysis]
4 Yin LP, Zheng HX, Zhu H. Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review. World J Clin Cases 2022;10:2811-7. [PMID: 35434101 DOI: 10.12998/wjcc.v10.i9.2811] [Reference Citation Analysis]
5 Wei M, Ying Y, Li Z, Weng Y, Luo X. Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations. Mol Genet Genomic Med 2021;9:e1823. [PMID: 34605228 DOI: 10.1002/mgg3.1823] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
6 Mancioppi V, Prodam F, Mellone S, Ricotti R, Giglione E, Grasso N, Vurchio D, Petri A, Rabbone I, Giordano M, Bellone S. Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature. Front Genet 2021;12:708864. [PMID: 34456977 DOI: 10.3389/fgene.2021.708864] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
7 Lin L, Li M, Luo J, Li P, Zhou S, Yang Y, Chen K, Weng Y, Ge X, Mireguli M, Wei H, Yang H, Li G, Sun Y, Cui L, Zhang S, Chen J, Zeng G, Xu L, Luo X, Shen Y. A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children. J Clin Endocrinol Metab 2021;106:e2711-9. [PMID: 33606014 DOI: 10.1210/clinem/dgab088] [Cited by in Crossref: 2] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
8 Olivieri DJ, Massingham LJ, Schwab JL, Quintos JB. Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant. Case Rep Endocrinol 2021;2021:5571524. [PMID: 34194850 DOI: 10.1155/2021/5571524] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
9 Liang H, Miao H, Pan H, Yang H, Gong F, Duan L, Chen S, Wang L, Zhu H. Growth-Promoting Therapies May Be Useful In Short Stature Patients With Nonspecific Skeletal Abnormalities Caused By Acan Heterozygous Mutations: Six Chinese Cases And Literature Review. Endocr Pract 2020;26:1255-68. [PMID: 33471655 DOI: 10.4158/EP-2019-0518] [Cited by in Crossref: 4] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
10 Uchida N, Shibata H, Nishimura G, Hasegawa T. A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease. Hum Genome Var 2020;7:44. [PMID: 33298914 DOI: 10.1038/s41439-020-00132-8] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
11 Muthuirulan P, Capellini TD. Complex Phenotypes: Mechanisms Underlying Variation in Human Stature. Curr Osteoporos Rep 2019;17:301-23. [PMID: 31441021 DOI: 10.1007/s11914-019-00527-9] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
12 Ye X, Fang D, He Y, Yan H, Qiu W, Sun Y. Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes. Eur J Med Genet 2020;63:104074. [PMID: 32980524 DOI: 10.1016/j.ejmg.2020.104074] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
13 Mohammadian Khonsari N, Mohammad Poor Nami S, Hakak-Zargar B, Voth T. Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report. Mol Cell Pediatr 2020;7:11. [PMID: 32935225 DOI: 10.1186/s40348-020-00104-6] [Reference Citation Analysis]
14 Perchard R, Murray PG, Payton A, Highton GL, Whatmore A, Clayton PE. Novel Mutations and Genes That Impact on Growth in Short Stature of Undefined Aetiology: The EPIGROW Study. J Endocr Soc 2020;4:bvaa105. [PMID: 32939436 DOI: 10.1210/jendso/bvaa105] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
15 Wang Y, Ge J, Ma J, Qiao L, Li T. Short stature with precocious puberty caused by aggrecan gene mutation: A case report. Medicine (Baltimore) 2020;99:e21635. [PMID: 32846772 DOI: 10.1097/MD.0000000000021635] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
16 Faienza MF, Chiarito M, Brunetti G, D'Amato G. Growth plate gene involment and isolated short stature. Endocrine 2021;71:28-34. [PMID: 32504378 DOI: 10.1007/s12020-020-02362-w] [Cited by in Crossref: 2] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
17 Stavber L, Hovnik T, Kotnik P, Lovrečić L, Kovač J, Tesovnik T, Bertok S, Dovč K, Debeljak M, Battelino T, Avbelj Stefanija M. High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature. Eur J Endocrinol 2020;182:243-53. [PMID: 31841439 DOI: 10.1530/EJE-19-0771] [Cited by in Crossref: 6] [Cited by in F6Publishing: 14] [Article Influence: 2.0] [Reference Citation Analysis]
18 Hodax JK, Quintos JB, Gruppuso PA, Chen Q, Desai S, Jayasuriya CT. Aggrecan is required for chondrocyte differentiation in ATDC5 chondroprogenitor cells. PLoS One 2019;14:e0218399. [PMID: 31206541 DOI: 10.1371/journal.pone.0218399] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
19 Jacob M, Menon S, Botti C, Marshall I. Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia. Case Rep Endocrinol 2018;2018:7658496. [PMID: 30622824 DOI: 10.1155/2018/7658496] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
20 Struck AK, Dierks C, Braun M, Hellige M, Wagner A, Oelmaier B, Beineke A, Metzger J, Distl O. A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan. BMC Genet 2018;19:91. [PMID: 30305023 DOI: 10.1186/s12863-018-0678-8] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
21 Xu D, Sun C, Zhou Z, Wu B, Yang L, Chang Z, Zhang M, Xi L, Cheng R, Ni J, Luo F. Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children. BMC Med Genet 2018;19:79. [PMID: 29769040 DOI: 10.1186/s12881-018-0591-z] [Cited by in Crossref: 6] [Cited by in F6Publishing: 9] [Article Influence: 1.5] [Reference Citation Analysis]
22 Sentchordi-montané L, Aza-carmona M, Benito-sanz S, Barreda- Bonis AC, Sánchez-garre C, Prieto-matos P, Ruiz-ocaña P, Lechuga-sancho A, Carcavilla-urquí A, Mulero-collantes I, Martos-moreno GA, del Pozo A, Vallespín E, Offiah A, Parrón-pajares M, Dinis I, Sousa SB, Ros-pérez P, González-casado I, Heath KE. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. Clin Endocrinol 2018;88:820-9. [DOI: 10.1111/cen.13581] [Cited by in Crossref: 16] [Cited by in F6Publishing: 22] [Article Influence: 4.0] [Reference Citation Analysis]
23 Crippa M, Giangiobbe S, Villa R, Bestetti I, De Filippis T, Fatti L, Taurino J, Larizza L, Persani L, Bellini F, Finelli P, Bonati MT. A balanced reciprocal translocation t (10;15) (q22.3; q26.1) interrupting ACAN gene in a family with proportionate short stature. J Endocrinol Invest. 2018;41:929-936. [PMID: 29302920 DOI: 10.1007/s40618-017-0819-3] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 2.3] [Reference Citation Analysis]
24 Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT. Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med 2018;20:630-8. [PMID: 29758562 DOI: 10.1038/gim.2017.159] [Cited by in Crossref: 51] [Cited by in F6Publishing: 59] [Article Influence: 10.2] [Reference Citation Analysis]
25 Kang MJ. Novel genetic cause of idiopathic short stature. Ann Pediatr Endocrinol Metab 2017;22:153-7. [PMID: 29025200 DOI: 10.6065/apem.2017.22.3.153] [Cited by in Crossref: 15] [Cited by in F6Publishing: 17] [Article Influence: 3.0] [Reference Citation Analysis]
26 Hauer NN, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dörr HG, Thiel CT. Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Sci Rep 2017;7:12225. [PMID: 28939912 DOI: 10.1038/s41598-017-12465-6] [Cited by in Crossref: 23] [Cited by in F6Publishing: 37] [Article Influence: 4.6] [Reference Citation Analysis]
27 van der Steen M, Pfundt R, Maas SJWH, Bakker-van Waarde WM, Odink RJ, Hokken-Koelega ACS. ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment. J Clin Endocrinol Metab 2017;102:1458-67. [PMID: 27710243 DOI: 10.1210/jc.2016-2941] [Cited by in Crossref: 25] [Cited by in F6Publishing: 31] [Article Influence: 5.0] [Reference Citation Analysis]
28 Dateki S. ACAN mutations as a cause of familial short stature. Clin Pediatr Endocrinol 2017;26:119-25. [PMID: 28804204 DOI: 10.1297/cpe.26.119] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 2.8] [Reference Citation Analysis]
29 Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. J Clin Endocrinol Metab 2017;102:460-9. [PMID: 27870580 DOI: 10.1210/jc.2016-3313] [Cited by in Crossref: 47] [Cited by in F6Publishing: 61] [Article Influence: 9.4] [Reference Citation Analysis]
30 Hu X, Gui B, Su J, Li H, Li N, Yu T, Zhang Q, Xu Y, Li G, Chen Y, Qing Y, Li C, Luo J, Fan X, Ding Y, Li J, Wang J, Wang X, Chen S, Shen Y; Chinese Genetic Short Stature Consortium. Novel pathogenic ACAN variants in non-syndromic short stature patients. Clin Chim Acta 2017;469:126-9. [PMID: 28396070 DOI: 10.1016/j.cca.2017.04.004] [Cited by in Crossref: 20] [Cited by in F6Publishing: 26] [Article Influence: 4.0] [Reference Citation Analysis]
31 Dateki S, Nakatomi A, Watanabe S, Shimizu H, Inoue Y, Baba H, Yoshiura KI, Moriuchi H. Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation. J Hum Genet 2017;62:717-21. [PMID: 28331218 DOI: 10.1038/jhg.2017.33] [Cited by in Crossref: 13] [Cited by in F6Publishing: 24] [Article Influence: 2.6] [Reference Citation Analysis]
32 Gibson BG, Briggs MD. The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases. Orphanet J Rare Dis 2016;11:86. [PMID: 27353333 DOI: 10.1186/s13023-016-0459-2] [Cited by in Crossref: 36] [Cited by in F6Publishing: 35] [Article Influence: 6.0] [Reference Citation Analysis]
33 de Bruin C, Dauber A. Genomic insights into growth and its disorders: an update. Curr Opin Endocrinol Diabetes Obes 2016;23:51-6. [PMID: 26702851 DOI: 10.1097/MED.0000000000000209] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 1.1] [Reference Citation Analysis]