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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2001 1
2002 1
2003 1
2004 1
2005 1
2006 1
2008 1
2010 2
2011 2
2012 1
2013 1
2014 1
2015 6
2016 1
2017 2
2018 6
2019 5
2020 4
2021 5
2022 2
2023 2
2024 0

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PubMed for id: 79631

42 results

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Page 1
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.
Stepensky P, Chacón-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Méndez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sánchez-Puig N, Elpeleg O. Stepensky P, et al. J Med Genet. 2017 Aug;54(8):558-566. doi: 10.1136/jmedgenet-2016-104366. Epub 2017 Mar 22. J Med Genet. 2017. PMID: 28331068
Functional analysis of a novel glioma antigen, EFTUD1.
Saito K, Iizuka Y, Ohta S, Takahashi S, Nakamura K, Saya H, Yoshida K, Kawakami Y, Toda M. Saito K, et al. Neuro Oncol. 2014 Dec;16(12):1618-29. doi: 10.1093/neuonc/nou132. Epub 2014 Jul 11. Neuro Oncol. 2014. PMID: 25015090 Free PMC article.
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan S, Kermasson L, Hoslin A, Jaako P, Faille A, Acevedo-Arozena A, Lengline E, Ranta D, Poirée M, Fenneteau O, Ducou le Pointe H, Fumagalli S, Beaupain B, Nitschké P, Bôle-Feysot C, de Villartay JP, Bellanné-Chantelot C, Donadieu J, Kannengiesser C, Warren AJ, Revy P. Tan S, et al. Blood. 2019 Jul 18;134(3):277-290. doi: 10.1182/blood.2018893404. Epub 2019 May 31. Blood. 2019. PMID: 31151987 Free PMC article.
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A, Nicolis E, Pintani E, Maserati E, Cipolli M, Danesino C, Scotti C, Minelli A. Morini J, et al. Br J Haematol. 2019 May;185(3):627-630. doi: 10.1111/bjh.15594. Epub 2018 Sep 10. Br J Haematol. 2019. PMID: 30198570 Free article. No abstract available.
Mechanism of eIF6 release from the nascent 60S ribosomal subunit.
Weis F, Giudice E, Churcher M, Jin L, Hilcenko C, Wong CC, Traynor D, Kay RR, Warren AJ. Weis F, et al. Nat Struct Mol Biol. 2015 Nov;22(11):914-9. doi: 10.1038/nsmb.3112. Epub 2015 Oct 19. Nat Struct Mol Biol. 2015. PMID: 26479198 Free PMC article.
Shwachman-Diamond Syndrome.
Nelson A, Myers K. Nelson A, et al. 2008 Jul 17 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Jul 17 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301722 Free Books & Documents. Review.
42 results