{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:42:13Z","timestamp":1791999733555,"version":"4.4.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T00:00:00Z","timestamp":1572220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T00:00:00Z","timestamp":1572220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2020,2]]},"DOI":"10.1038\/s10038-019-0682-5","type":"journal-article","created":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T10:07:32Z","timestamp":1572257252000},"page":"133-141","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Alazami syndrome: the first case of papillary thyroid carcinoma"],"prefix":"10.1038","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0113-783X","authenticated-orcid":false,"given":"Ivan","family":"Ivanovski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5033-7854","authenticated-orcid":false,"given":"Stefano Giuseppe","family":"Caraffi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Magnani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simonetta","family":"Rosato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzia","family":"Pollazzon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Matalonga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simonetta","family":"Piana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Nicoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Baldo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Bernasconi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Frasoldati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orsetta","family":"Zuffardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,10,28]]},"reference":[{"key":"682_CR1","doi-asserted-by":"publisher","first-page":"1429","DOI":"10.1002\/humu.22175","volume":"33","author":"AM Alazami","year":"2012","unstructured":"Alazami AM, Al-Owain M, Alzahrani F, Shuaib T, Al-Shamrani H, Al-Falki YH, et al. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum Mutat 2012;33:1429\u201334.","journal-title":"Hum Mutat"},{"key":"682_CR2","unstructured":"OMIM [Internet]. Accessed 11Aug 2019. https:\/\/www.omim.org\/ ."},{"key":"682_CR3","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1038\/nature10423","volume":"478","author":"H Najmabadi","year":"2011","unstructured":"Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011;478:57\u201363.","journal-title":"Nature"},{"key":"682_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1089\/thy.2015.0020","volume":"26","author":"BR Haugen","year":"2016","unstructured":"Haugen BR, Alexander EK, Bible KC, Doherty GM, Mandel SJ, Nikiforov YE, et al. 2015 American Thyroid Association Management Guidelines for adult patients with thyroid nodules and differentiated thyroid cancer: The American Thyroid Association Guidelines task force on thyroid nodules and differentiated thyroid cancer. Thyroid 2016;26:1\u2013133.","journal-title":"Thyroid"},{"key":"682_CR5","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1111\/his.13373","volume":"72","author":"J Guilmette","year":"2018","unstructured":"Guilmette J, Nos\u00e9 V. Hereditary and familial thyroid tumours. Histopathology 2018;72:70\u201381.","journal-title":"Histopathology"},{"key":"682_CR6","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1530\/EC-19-0069","volume":"8","author":"B Pekova","year":"2019","unstructured":"Pekova B, Dvorakova S, Sykorova V, Vacinova G, Vaclavikova E, Moravcova J, et al. Somatic genetic alterations in a large cohort of pediatric thyroid nodules. Endocr Connect 2019;8:796\u2013805.","journal-title":"Endocr Connect"},{"key":"682_CR7","doi-asserted-by":"publisher","first-page":"1321","DOI":"10.1002\/ijc.31825","volume":"144","author":"F Ye","year":"2019","unstructured":"Ye F, Gao H, Xiao L, Zuo Z, Liu Y, Zhao Q, et al. Whole exome and target sequencing identifies MAP2K5 as novel susceptibility gene for familial non-medullary thyroid carcinoma. Int J Cancer 2019;144:1321\u201330.","journal-title":"Int J Cancer"},{"key":"682_CR8","doi-asserted-by":"publisher","first-page":"18014","DOI":"10.1038\/hgv.2018.14","volume":"5","author":"S Dateki","year":"2018","unstructured":"Dateki S, Kitajima T, Kihara T, Watanabe S, Yoshiura K, Moriuchi H. Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. Hum Genome Var 2018;5:18014.","journal-title":"Hum Genome Var"},{"key":"682_CR9","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1007\/s11033-018-4470-7","volume":"46","author":"M Elmas","year":"2019","unstructured":"Elmas M, Y\u0131ld\u0131z H, Erdo\u011fan M, Gogus B, Avc\u0131 K, Solak M. Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience. Mol Biol Rep 2019;46:287\u201399.","journal-title":"Mol Biol Rep"},{"key":"682_CR10","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/jhg.2015.134","volume":"61","author":"IHIM Hollink","year":"2016","unstructured":"Hollink IHIM, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, De Man SA, et al. Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. J Hum Genet 2016;61:229\u201333.","journal-title":"J Hum Genet"},{"key":"682_CR11","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-016-3093-4","volume":"17","author":"B Holohan","year":"2016","unstructured":"Holohan B, Kim W, Lai TP, Hoshiyama H, Zhang N, Alazami AM, et al. Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. BMC Genomics 2016;17:749.","journal-title":"BMC Genomics"},{"key":"682_CR12","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.ejmg.2018.07.003","volume":"62","author":"M Imbert-Bouteille","year":"2019","unstructured":"Imbert-Bouteille M, Mau Them FT, Thevenon J, Guignard T, Gatinois V, Riviere JB, et al. LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. Eur J Med Genet 2019;62:161\u20136.","journal-title":"Eur J Med Genet"},{"key":"682_CR13","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1016\/j.neuron.2015.09.048","volume":"88","author":"E Karaca","year":"2015","unstructured":"Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, et al. Genes that affect brain structure and function identified by rare variant analyses of mendelian neurologic disease. Neuron. 2015;88:499\u2013513.","journal-title":"Neuron"},{"key":"682_CR14","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1002\/ajmg.a.37396","volume":"170","author":"TT Ling","year":"2016","unstructured":"Ling TT, Sorrentino S. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. Am J Med Genet Part A 2016;170:217\u20139.","journal-title":"Am J Med Genet Part A"},{"key":"682_CR15","doi-asserted-by":"publisher","DOI":"10.1038\/npjgenmed.2015.12","volume":"1","author":"DJ Stavropoulos","year":"2016","unstructured":"Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, et al. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. npj Genom Med 2016;1:15012.","journal-title":"npj Genom Med"},{"key":"682_CR16","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1002\/ajmg.a.61189","volume":"179","author":"MH Wojcik","year":"2019","unstructured":"Wojcik MH, Linnea K, Stoler JM, Rappaport L. Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. Am J Med Genet Part A 2019;179:1565\u201369.","journal-title":"Am J Med Genet Part A"},{"key":"682_CR17","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1038\/embor.2008.72","volume":"9","author":"A Markert","year":"2008","unstructured":"Markert A, Grimm M, Martinez J, Wiesner J, Meyerhans A, Meyuhas O, et al. The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes. EMBO Rep 2008;9:569\u201375.","journal-title":"EMBO Rep"},{"key":"682_CR18","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1080\/21541264.2017.1344346","volume":"9","author":"S Egloff","year":"2018","unstructured":"Egloff S, Studniarek C, Kiss T. 7SK small nuclear RNA, a multifunctional transcriptional regulatory RNA with gene-specific features. Transcription 2018;9:95\u2013101.","journal-title":"Transcription"},{"key":"682_CR19","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1016\/j.molcel.2008.01.003","volume":"29","author":"N He","year":"2008","unstructured":"He N, Jahchan NS, Hong E, Li Q, Bayfield MA, Maraia RJ, et al. A La-related protein modulates 7SK snRNP integrity to suppress P-TEFb-dependent transcriptional elongation and tumorigenesis. Mol Cell 2008;29:588\u201399.","journal-title":"Mol Cell"},{"key":"682_CR20","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1083\/jcb.200604035","volume":"174","author":"J Kreuger","year":"2006","unstructured":"Kreuger J, Spillmann D, Li JP, Lindahl U. Interactions between heparan sulfate and proteins: the concept of specificity. J Cell Biol. 2006;174:323\u20137.","journal-title":"J Cell Biol"},{"key":"682_CR21","doi-asserted-by":"publisher","first-page":"2477","DOI":"10.1101\/gad.202242.112","volume":"26","author":"D Okamura","year":"2012","unstructured":"Okamura D, Maeda I, Taniguchi H, Tokitake Y, Ikeda M, Ozato K, et al. Cell cycle gene-specific control of transcription has a critical role in proliferation of primordial germ cells. Genes Dev 2012;26:2477\u201382.","journal-title":"Genes Dev"},{"key":"682_CR22","doi-asserted-by":"publisher","first-page":"7527","DOI":"10.1093\/nar\/gkw585","volume":"44","author":"AJ C. Quaresma","year":"2016","unstructured":"C. Quaresma AJ, Bugai A, Barboric M. Cracking the control of RNA polymerase II elongation by 7SK snRNP and P-TEFb. Nucleic Acids Res. 2016;44:7527\u201339.","journal-title":"Nucleic Acids Res"},{"key":"682_CR23","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1038\/labinvest.2012.59","volume":"92","author":"Y Cheng","year":"2012","unstructured":"Cheng Y, Jin Z, Agarwal R, Ma K, Yang J, Ibrahim S, et al. LARP7 is a potential tumor suppressor gene in gastric cancer. Lab Investig 2012;92:1013\u20139.","journal-title":"Lab Investig"},{"key":"682_CR24","doi-asserted-by":"publisher","first-page":"e02907","DOI":"10.7554\/eLife.02907","volume":"3","author":"X Ji","year":"2014","unstructured":"Ji X, Lu H, Zhou Q, Luo K. LARP7 suppresses P-TEFb activity to inhibit breast cancer progression and metastasis. Elife 2014;3:e02907.","journal-title":"Elife"},{"key":"682_CR25","first-page":"7521","volume":"17","author":"X Sui","year":"2018","unstructured":"Sui X, Sui Y, Wang Y. LARP7 in papillary thyroid carcinoma induces NIS expression through suppression of the SHH signaling pathway. Mol Med Rep 2018;17:7521\u20138.","journal-title":"Mol Med Rep"},{"key":"682_CR26","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1634\/theoncologist.2016-0279","volume":"22","author":"P Vanden Borre","year":"2017","unstructured":"Vanden Borre P, Schrock AB, Anderson PM, Morris JC, Heilmann AM, Holmes O, et al. Pediatric, adolescent, and young adult thyroid carcinoma harbors frequent and diverse targetable genomic alterations, including kinase fusions. Oncologist 2017;22:255\u201363.","journal-title":"Oncologist"},{"key":"682_CR27","doi-asserted-by":"publisher","first-page":"D941","DOI":"10.1093\/nar\/gky1015","volume":"47","author":"JG Tate","year":"2019","unstructured":"Tate JG, Bamford S, Jubb HC, Sondka Z, Beare DM, Bindal N, et al. COSMIC: the catalogue of somatic mutations in Cancer. Nucleic Acids Res. 2019;47:D941\u20137.","journal-title":"Nucleic Acids Res"},{"key":"682_CR28","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1016\/j.neo.2018.09.003","volume":"20","author":"OR Puli","year":"2018","unstructured":"Puli OR, Danysh BP, McBeath E, Sinha DK, Hoang NM, Powell RT, et al. The transcription factor ETV5 mediates BRAFV600E-induced proliferation and TWIST1 expression in papillary thyroid cancer cells. Neoplasia 2018;20:1121\u201334.","journal-title":"Neoplasia"},{"key":"682_CR29","doi-asserted-by":"publisher","first-page":"3373","DOI":"10.1093\/nar\/gkv173","volume":"43","author":"E Uchikawa","year":"2015","unstructured":"Uchikawa E, Natchiar KS, Han X, Proux F, Roblin P, Zhang E, et al. Structural insight into the mechanism of stabilization of the 7SK small nuclear RNA by LARP7. Nucleic Acids Res. 2015;43:3373\u201388.","journal-title":"Nucleic Acids Res"},{"key":"682_CR30","first-page":"9977","volume":"44","author":"CD Eichhorn","year":"2016","unstructured":"Eichhorn CD, Chug R, Feigon J. hLARP7 C-terminal domain contains an xRRM that binds the 3\u2032 hairpin of 7SK RNA. Nucleic Acids Res 2016;44:9977\u201389.","journal-title":"Nucleic Acids Res"},{"key":"682_CR31","doi-asserted-by":"publisher","first-page":"D754","DOI":"10.1093\/nar\/gkx1098","volume":"46","author":"DR Zerbino","year":"2018","unstructured":"Zerbino DR, Achuthan P, Akanni W, Amode MR, Barrell D, Bhai J, et al. Ensembl 2018. Nucleic Acids Res. 2018;46:D754\u201361.","journal-title":"Nucleic Acids Res"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s10038-019-0682-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s10038-019-0682-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s10038-019-0682-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T05:39:16Z","timestamp":1695361156000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-019-0682-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,28]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["682"],"URL":"https:\/\/doi.org\/10.1038\/s10038-019-0682-5","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,28]]},"assertion":[{"value":"6 July 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 September 2019","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 September 2019","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 October 2019","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}