{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T16:10:20Z","timestamp":1737994220972,"version":"3.33.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T00:00:00Z","timestamp":1725062400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T00:00:00Z","timestamp":1725062400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Res"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1038\/s41390-024-03490-z","type":"journal-article","created":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T07:01:55Z","timestamp":1725087715000},"page":"1626-1635","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Functional analysis of a novel pathogenic variant in CREBBP associated with bone development"],"prefix":"10.1038","volume":"96","author":[{"given":"Qing","family":"Fang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunlan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jue","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qihua","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,8,31]]},"reference":[{"key":"3490_CR1","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1016\/j.paed.2017.10.001","volume":"28","author":"AD Calder","year":"2018","unstructured":"Calder, A. D. & Foley, P. Skeletal dysplasias: an overview. Paediatr. Child Health (Oxf.) 28, 84\u201392 (2018).","journal-title":"Paediatr. Child Health (Oxf.)"},{"key":"3490_CR2","doi-asserted-by":"publisher","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","volume":"167","author":"L Bonafe","year":"2015","unstructured":"Bonafe, L. et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am. J. Med Genet Part A 167, 2869\u20132892 (2015).","journal-title":"Am. J. Med Genet Part A"},{"key":"3490_CR3","doi-asserted-by":"publisher","first-page":"1722","DOI":"10.1016\/j.celrep.2018.07.041","volume":"24","author":"R Raisner","year":"2018","unstructured":"Raisner, R. et al. Enhancer Activity Requires CBP\/P300 Bromodomain-Dependent Histone H3K27 Acetylation. Cell Rep. 24, 1722\u20131729 (2018).","journal-title":"Cell Rep."},{"key":"3490_CR4","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1182\/blood-2010-09-307942","volume":"118","author":"SN Zimmer","year":"2011","unstructured":"Zimmer, S. N. et al. Crebbp haploinsufficiency in mice alters the bone marrow microenvironment, leading to loss of stem cells and excessive myelopoiesis. Blood 118, 69\u201379 (2011).","journal-title":"Blood"},{"key":"3490_CR5","first-page":"2905","volume":"22","author":"C Gao","year":"2020","unstructured":"Gao, C. et al. Downregulating CREBBP inhibits proliferation and cell cycle progression and induces daunorubicin resistance in leukemia cells. Mol. Med. Rep. 22, 2905\u20132915 (2020).","journal-title":"Mol. Med. Rep."},{"key":"3490_CR6","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1007\/978-3-319-53889-1_3","volume":"978","author":"E Korzus","year":"2017","unstructured":"Korzus, E. Rubinstein-Taybi Syndrome and epigenetic alterations. Adv. Exp. Med. Biol. 978, 39\u201362 (2017).","journal-title":"Adv. Exp. Med. Biol."},{"key":"3490_CR7","doi-asserted-by":"publisher","first-page":"10215","DOI":"10.1073\/pnas.94.19.10215","volume":"94","author":"Y Tanaka","year":"1997","unstructured":"Tanaka, Y. et al. Abnormal skeletal patterning in embryos lacking a single CBP allele: a partial similarity with Rubinstein-Taybi syndrome. Proc. Natl Acad. Sci. 94, 10215 (1997).","journal-title":"Proc. Natl Acad. Sci."},{"key":"3490_CR8","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1002\/ajmg.a.32596","volume":"149A","author":"LG Biesecker","year":"2009","unstructured":"Biesecker, L. G. et al. Elements of morphology: standard terminology for the hands and feet. Am. J. Med. Genet. Part A 149A, 93\u2013127 (2009).","journal-title":"Am. J. Med. Genet. Part A"},{"key":"3490_CR9","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1002\/ajmg.a.32597","volume":"149A","author":"BD Hall","year":"2009","unstructured":"Hall, B. D. et al. Elements of morphology: standard terminology for the periorbital region. Am. J. Med. Genet. Part A 149A, 29\u201339 (2009).","journal-title":"Am. J. Med. Genet. Part A"},{"key":"3490_CR10","doi-asserted-by":"publisher","first-page":"3482","DOI":"10.1016\/j.csbj.2021.06.014","volume":"19","author":"B Zu","year":"2021","unstructured":"Zu, B. et al. Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing. Computational Struct. Biotechnol. J. 19, 3482\u20133490 (2021).","journal-title":"Computational Struct. Biotechnol. J."},{"key":"3490_CR11","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1016\/j.cca.2015.03.019","volume":"446","author":"J Wang","year":"2015","unstructured":"Wang, J. et al. Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. Clin. Chim. Acta 446, 9\u201314 (2015).","journal-title":"Clin. Chim. Acta"},{"key":"3490_CR12","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1056\/NEJMc1310150","volume":"370","author":"J Wang","year":"2014","unstructured":"Wang, J. et al. Primary ovarian insufficiency collaboration. mutations in HFM1 in recessive primary ovarian insufficiency. N. Engl. J. Med. 370, 972\u2013974 (2014).","journal-title":"N. Engl. J. Med."},{"key":"3490_CR13","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.542004","volume":"11","author":"Y Xiang","year":"2020","unstructured":"Xiang, Y. et al. A novel nonsense GLI3 variant is associated with polydactyly and syndactyly in a family by blocking the sonic hedgehog signaling pathway. Front Genet 11, 542004 (2020).","journal-title":"Front Genet"},{"key":"3490_CR14","doi-asserted-by":"publisher","first-page":"2681","DOI":"10.1002\/ajmg.a.37800","volume":"170","author":"LA Menke","year":"2016","unstructured":"Menke, L. A. et al. CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. Am. J. Med Genet A 170, 2681\u20132693 (2016).","journal-title":"Am. J. Med Genet A"},{"key":"3490_CR15","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1002\/ajmg.a.38626","volume":"176","author":"LA Menke","year":"2018","unstructured":"Menke, L. A. et al. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. Am. J. Med Genet A 176, 862\u2013876 (2018).","journal-title":"Am. J. Med Genet A"},{"key":"3490_CR16","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1002\/ajmg.a.61131","volume":"179","author":"S Banka","year":"2019","unstructured":"Banka, S. et al. Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Am. J. Med Genet A. 179, 1058\u20131062 (2019).","journal-title":"Am. J. Med Genet A."},{"key":"3490_CR17","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1002\/ajmg.a.62533","volume":"188","author":"E Nishi","year":"2022","unstructured":"Nishi, E. et al. The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome. Am. J. Med Genet A. 188, 446\u2013453 (2022).","journal-title":"Am. J. Med Genet A."},{"key":"3490_CR18","doi-asserted-by":"publisher","first-page":"a026534","DOI":"10.1101\/cshperspect.a026534","volume":"7","author":"N Attar","year":"2017","unstructured":"Attar, N. & Kurdistani, S. K. Exploitation of EP300 and CREBBP lysine acetyltransferases by cancer. Cold Spring Harb. Perspect. Med. 7, a026534 (2017).","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"3490_CR19","doi-asserted-by":"publisher","first-page":"384","DOI":"10.2174\/156800910791208535","volume":"10","author":"X Xiao","year":"2010","unstructured":"Xiao, X. et al. Targeting CREB for cancer therapy: friend or foe. Curr. Cancer Drug Targets 10, 384\u2013391 (2010).","journal-title":"Curr. Cancer Drug Targets"},{"key":"3490_CR20","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1016\/j.tins.2005.06.005","volume":"28","author":"WA Carlezon","year":"2005","unstructured":"Carlezon, W. A. et al. The many faces of CREB. Trends Neurosci. 28, 436\u2013445 (2005).","journal-title":"Trends Neurosci."},{"key":"3490_CR21","doi-asserted-by":"crossref","unstructured":"Tang W., et al. Association study of CREB1 and CBP genes with Alzheimer\u2019s disease in Han Chinese. Asia Pac Psychiatry. 9. (2017)","DOI":"10.1111\/appy.12274"},{"key":"3490_CR22","doi-asserted-by":"crossref","unstructured":"Hadjipanayis A., et al. Thu0033 Rna profling of healthy and rheumatoid arthritis subjects treated with tofacitinib monotherapy. 284.1\u2013284. (2019)","DOI":"10.1136\/annrheumdis-2019-eular.1928"},{"key":"3490_CR23","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1007\/s10930-020-09951-8","volume":"40","author":"OE Akinsiku","year":"2021","unstructured":"Akinsiku, O. E. et al. Update and potential opportunities in CBP [cyclic adenosine monophosphate (cAMP) response element-binding protein (CREB)-binding protein] research using computational techniques. Protein J 40, 19\u201327 (2021).","journal-title":"Protein J"},{"key":"3490_CR24","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1530\/EJE-21-0557","volume":"185","author":"L Sentchordi-Montan\u00e9","year":"2021","unstructured":"Sentchordi-Montan\u00e9, L. et al. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. Eur. Endocrinol. 185, 691\u2013705 (2021).","journal-title":"Eur. Endocrinol."},{"key":"3490_CR25","doi-asserted-by":"publisher","first-page":"e0239450","DOI":"10.1371\/journal.pone.0239450","volume":"15","author":"H Tang","year":"2020","unstructured":"Tang, H. et al. Integrative analysis of long non-coding RNA and mRNA in broilers with valgus-varus deformity. PLoS One 15, e0239450 (2020).","journal-title":"PLoS One"},{"key":"3490_CR26","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.ejmg.2012.09.005","volume":"56","author":"B Deemer","year":"2013","unstructured":"Deemer, B. et al. Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. Eur. J. Med Genet 56, 26 (2013).","journal-title":"Eur. J. Med Genet"},{"key":"3490_CR27","first-page":"348e51","volume":"376","author":"F Petrij","year":"1995","unstructured":"Petrij, F. et al. RubinsteineTaybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376, 348e51 (1995).","journal-title":"Nature"},{"key":"3490_CR28","first-page":"255e62","volume":"52","author":"RC Hennekam","year":"1993","unstructured":"Hennekam, R. C. et al. Deletion at chromosome 16p13.3 as a cause of RubinsteineTaybi syndrome: clinical aspects. Am. J. Hum. Genet 52, 255e62 (1993).","journal-title":"Am. J. Hum. Genet"},{"key":"3490_CR29","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1080\/15476286.2016.1271524","volume":"14","author":"KK Ebbesen","year":"2017","unstructured":"Ebbesen, K. K. et al. Insights into circular RNA biology. RNA Biol. 14, 1035\u20131045 (2017).","journal-title":"RNA Biol."},{"key":"3490_CR30","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1038\/nature02871","volume":"431","author":"V Ambros","year":"2004","unstructured":"Ambros, V. The functions of animal microRNAs. Nature 431, 350\u2013355 (2004).","journal-title":"Nature"},{"key":"3490_CR31","doi-asserted-by":"publisher","first-page":"117363","DOI":"10.1016\/j.lfs.2020.117363","volume":"245","author":"J Qiao","year":"2020","unstructured":"Qiao, J. et al. Microarray analysis of circRNAs expression profile in gliomas reveals that circ_0037655 could promote glioma progression by regulating miR-214\/PI3K signaling. Life Sci. 245, 117363 (2020).","journal-title":"Life Sci."},{"key":"3490_CR32","doi-asserted-by":"publisher","first-page":"147730","DOI":"10.1016\/j.brainres.2021.147730","volume":"1775","author":"L Zhang","year":"2022","unstructured":"Zhang, L. et al. Circ-CREBBP promotes cell tumorigenesis and glutamine catabolism in glioma by regulating miR-375\/glutaminase axis. Brain Res 1775, 147730 (2022).","journal-title":"Brain Res"},{"key":"3490_CR33","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1016\/j.jhsa.2014.08.043","volume":"40","author":"DT Hutchinson","year":"2015","unstructured":"Hutchinson, D. T. et al. Rubinstein\u2013Taybi Syndrome. J. Hand Surg. Am. 40, 1711\u20131712 (2015).","journal-title":"J. Hand Surg. Am."},{"key":"3490_CR34","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1002\/ajmg.a.61922","volume":"185","author":"PT Yu","year":"2021","unstructured":"Yu, P. T. et al. Rubinstein-Taybi syndrome in Chinese population with four novel mutations. Am. J. Med Genet A. 185, 267\u2013273 (2021).","journal-title":"Am. J. Med Genet A."},{"key":"3490_CR35","doi-asserted-by":"publisher","first-page":"e1009","DOI":"10.1002\/mgg3.1009","volume":"7","author":"S Yu","year":"2019","unstructured":"Yu, S. et al. Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly. Mol. Genet Genom. Med. 7, e1009 (2019).","journal-title":"Mol. Genet Genom. Med."},{"key":"3490_CR36","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1093\/hmg\/10.10.1071","volume":"10","author":"T Murata","year":"2001","unstructured":"Murata, T. et al. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in RubinsteinTaybi syndrome. Hum. Mol. Genet 10, 1071\u20131076 (2001).","journal-title":"Hum. Mol. Genet"},{"key":"3490_CR37","first-page":"458","volume":"45","author":"R Huh","year":"2015","unstructured":"Huh, R. et al. Letter to the Editor: a novel mutation in the CREBBP gene of a Korean girl with Rubinstein\u2013Taybi syndrome. Ann. Clin. Lab Sci. 45, 458\u2013461 (2015).","journal-title":"Ann. Clin. Lab Sci."},{"key":"3490_CR38","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1038\/nm.2385","volume":"17","author":"Q Huang","year":"2011","unstructured":"Huang, Q. et al. Caspase 3-mediated stimulation of tumor cell repopulation during cancer radiotherapy. Nat. Med 17, 860\u2013866 (2011).","journal-title":"Nat. Med"},{"key":"3490_CR39","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1242\/dev.105536","volume":"142","author":"E Kozhemyakina","year":"2015","unstructured":"Kozhemyakina, E. et al. A pathway to bone: signaling molecules and transcription factors involved in chondrocyte development and maturation. Development 142, 817\u2013831 (2015).","journal-title":"Development"},{"key":"3490_CR40","doi-asserted-by":"publisher","first-page":"1885","DOI":"10.1002\/jbmr.4925","volume":"38","author":"LL Zhang","year":"2023","unstructured":"Zhang, L. L. et al. Acetyltransferases CBP\/p300 control transcriptional switch of \u03b2-catenin and stat1 promoting osteoblast differentiation. J. Bone Min. Res 38, 1885\u20131899 (2023).","journal-title":"J. Bone Min. Res"}],"container-title":["Pediatric Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41390-024-03490-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41390-024-03490-z","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41390-024-03490-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T15:36:40Z","timestamp":1737992200000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41390-024-03490-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,31]]},"references-count":40,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["3490"],"URL":"https:\/\/doi.org\/10.1038\/s41390-024-03490-z","relation":{},"ISSN":["0031-3998","1530-0447"],"issn-type":[{"type":"print","value":"0031-3998"},{"type":"electronic","value":"1530-0447"}],"subject":[],"published":{"date-parts":[[2024,8,31]]},"assertion":[{"value":"24 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 July 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 August 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 August 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The study protocol was approved by the Ethics Committee of Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University(no. SCMCIRB-K2017008),and written informed consent was obtained from all participants or their legal guardians. All animal procedures were approved by the animal ethics committee of Shanghai Children\u2019s Medical Center (no. SCMC-LAWEC-2019-015).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and informed consent"}}]}}