PubMed (GeneRIF) for id: 2137

Year	Number of Results
2000	1
2008	2
2009	2
2010	1
2011	1
2012	1
2015	1
2017	4
2018	1
2019	1
2021	2
2022	1
2024	0

1

Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.

Marques C, Poças J, Gomes C, Faria-Ramos I, Reis CA, Vivès RR, Magalhães A. Marques C, et al. J Biol Chem. 2022 Nov;298(11):102546. doi: 10.1016/j.jbc.2022.102546. Epub 2022 Sep 28. J Biol Chem. 2022. PMID: 36181793 Free PMC article.

2

REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway.

Zhang H, Corredor ALG, Messina-Pacheco J, Li Q, Zogopoulos G, Kaddour N, Wang Y, Shi BY, Gregorieff A, Liu JL, Gao ZH. Zhang H, et al. Commun Biol. 2021 Jun 7;4(1):688. doi: 10.1038/s42003-021-02193-z. Commun Biol. 2021. PMID: 34099862 Free PMC article.

3

Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.

Akalın A, Taskiran EZ, Şimşek-Kiper PÖ, Utine E, Alanay Y, Özçelik U, Boduroğlu K. Akalın A, et al. Am J Med Genet A. 2021 Oct;185(10):3104-3110. doi: 10.1002/ajmg.a.62378. Epub 2021 Jun 4. Am J Med Genet A. 2021. PMID: 34089299

4

EXTL3-interacting endometriosis-specific serum factors induce colony formation of endometrial stromal cells.

Aints A, Mölder S, Salumets A. Aints A, et al. Sci Rep. 2019 Aug 29;9(1):12562. doi: 10.1038/s41598-019-48840-8. Sci Rep. 2019. PMID: 31467315 Free PMC article.

5

Structural and Biophysical Characterization of Human EXTL3: Domain Organization, Glycosylation, and Solution Structure.

Awad W, Kjellström S, Svensson Birkedal G, Mani K, Logan DT. Awad W, et al. Biochemistry. 2018 Feb 20;57(7):1166-1177. doi: 10.1021/acs.biochem.7b00557. Epub 2018 Feb 5. Biochemistry. 2018. PMID: 29346724

6

Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

Notarangelo LD. Notarangelo LD. J Hum Genet. 2017 Aug;62(8):737-738. doi: 10.1038/jhg.2017.47. Epub 2017 Apr 27. J Hum Genet. 2017. PMID: 28446799 Free PMC article. No abstract available.

7

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

Guo L, Elcioglu NH, Mizumoto S, Wang Z, Noyan B, Albayrak HM, Yamada S, Matsumoto N, Miyake N, Nishimura G, Ikegawa S. Guo L, et al. J Hum Genet. 2017 Aug;62(8):797-801. doi: 10.1038/jhg.2017.38. Epub 2017 Mar 23. J Hum Genet. 2017. PMID: 28331220 Free PMC article.

8

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. Volpi S, et al. J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1. J Exp Med. 2017. PMID: 28148688 Free PMC article.

9

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. Oud MM, et al. Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132690 Free PMC article.

10

Reduced Expression of EXTL2, a Member of the Exostosin (EXT) Family of Glycosyltransferases, in Human Embryonic Kidney 293 Cells Results in Longer Heparan Sulfate Chains.

Katta K, Imran T, Busse-Wicher M, Grønning M, Czajkowski S, Kusche-Gullberg M. Katta K, et al. J Biol Chem. 2015 May 22;290(21):13168-77. doi: 10.1074/jbc.M114.631754. Epub 2015 Mar 31. J Biol Chem. 2015. PMID: 25829497 Free PMC article.

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