Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1993 1
2000 1
2001 2
2002 1
2004 1
2005 1
2006 1
2007 2
2008 2
2009 1
2010 1
2011 3
2012 1
2013 2
2014 4
2015 4
2016 3
2017 9
2018 4
2019 8
2020 3
2021 6
2022 6
2023 9
2024 6
2025 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

76 results

Results by year

Filters applied: . Clear all
Page 1
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.
SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation factor-like GTPase 1 (EFL1) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. ...In mice, Efl1 …
SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation fact …
Shwachman-Diamond Syndrome.
Nelson A, Myers K. Nelson A, et al. 2008 Jul 17 [updated 2024 Sep 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2008 Jul 17 [updated 2024 Sep 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301722 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of SDS is established in a proband with the classic clinical findings of exocrine pancreatic dysfunction and bone marrow dysfunction and/or biallelic pathogenic variants in DNAJC21, EFL1, or SBDS or a heterozygous pathogenic variant in SRP5 …
DIAGNOSIS/TESTING: The diagnosis of SDS is established in a proband with the classic clinical findings of exocrine pancreatic dysfunction an …
Arabidopsis ELF4-like proteins EFL1 and EFL3 influence flowering time.
Lin K, Zhao H, Gan S, Li G. Lin K, et al. Gene. 2019 Jun 5;700:131-138. doi: 10.1016/j.gene.2019.03.047. Epub 2019 Mar 24. Gene. 2019. PMID: 30917931
Under both long-day (LD) and short-day (SD) conditions, overexpression of EFL1 not only completely rescued the early flowering phenotype of the elf4 mutant, but also delayed flowering. ...These results suggest that EFL1 and EFL3 are involved in flowering time regula …
Under both long-day (LD) and short-day (SD) conditions, overexpression of EFL1 not only completely rescued the early flowering phenot …
Altered Conformational Landscape upon Sensing Guanine Nucleotides in a Disease Mutant of Elongation Factor-like 1 (EFL1) GTPase.
Pérez-Juárez J, Tapia-Vieyra JV, Gutiérrez-Magdaleno G, Sánchez-Puig N. Pérez-Juárez J, et al. Biomolecules. 2022 Aug 19;12(8):1141. doi: 10.3390/biom12081141. Biomolecules. 2022. PMID: 36009035 Free PMC article.
This process is mediated by the concerted action of the Elongation Factor-like 1 (human EFL1, yeast Efl1) GTPase and its effector, the Shwachman-Bodian-Diamond syndrome protein (human SBDS, yeast Sdo1). ...These findings point to the molecular malfunction of an E …
This process is mediated by the concerted action of the Elongation Factor-like 1 (human EFL1, yeast Efl1) GTPase and its effec …
Euphorbia factor L1 inhibited transport channel and energy metabolism in human colon adenocarcinoma cell line Caco-2.
Chen X, Hu H, Lin X, Chen M, Bao W, Wu Y, Li C, Gao Y, Hou S, Yang Q, Chen L, Zhang J, Chen K, Wang Q, Zhu A. Chen X, et al. Biomed Pharmacother. 2023 Dec 31;169:115919. doi: 10.1016/j.biopha.2023.115919. Epub 2023 Nov 22. Biomed Pharmacother. 2023. PMID: 37992574 Free article.
Euphorbia factor L1 (EFL1) is a kind of lathyrane-type diterpenoid and is isolated from the medical herb Euphorbia lathyris L. ...The interaction between EFL1 and the tight junction proteins Occludin, Claudin-4, Tricellulin, ZO-1, JAM-1, and E-cadherin was simulated …
Euphorbia factor L1 (EFL1) is a kind of lathyrane-type diterpenoid and is isolated from the medical herb Euphorbia lathyris L. ...The …
Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.
Cario H, Bertrand A, Tan S, Auber B, Erlacher M, Mair EM, von Hardenberg S, Lebrecht D, Revy P, Warren AJ. Cario H, et al. Br J Haematol. 2024 Dec;205(6):2363-2369. doi: 10.1111/bjh.19793. Epub 2024 Oct 8. Br J Haematol. 2024. PMID: 39379149 Free PMC article.
We report on an infant with a very severe, fatal clinical course caused by biallelic EFL1 variants: c.89A>G, p.(His30Arg), and c.2599A>G, p.(Asn867Asp). Functional analysis of patient-derived B-lymphoblastoid and SV40-transformed fibroblast cell lines suggests that t …
We report on an infant with a very severe, fatal clinical course caused by biallelic EFL1 variants: c.89A>G, p.(His30Arg), and c.2 …
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Lee S, Shin CH, Lee J, Jeong SD, Hong CR, Kim JD, Kim AR, Park B, Son SJ, Kokhan O, Yoo T, Ko JS, Sohn YB, Kim OH, Ko JM, Cho TJ, Wright NT, Seong JK, Jin SW, Kang HJ, Kim HH, Choi M. Lee S, et al. Blood. 2021 Nov 25;138(21):2117-2128. doi: 10.1182/blood.2021010913. Blood. 2021. PMID: 34115847 Free article.
Recent reports suggest that recessive variants in EFL1 are also responsible for SDS. However, the precise genetic mechanism that leads to EFL1-induced SDS remains incompletely understood. ...The loss of EFL1 resulted in a pronounced inhibition of terminal oli …
Recent reports suggest that recessive variants in EFL1 are also responsible for SDS. However, the precise genetic mechanism that lead …
76 results