BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

204 related articles for article (PubMed ID: 31151987)

  • 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
    Blood; 2019 Jul; 134(3):277-290. PubMed ID: 31151987
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Somatic genetic rescue of a germline ribosome assembly defect.
    Tan S; Kermasson L; Hilcenko C; Kargas V; Traynor D; Boukerrou AZ; Escudero-Urquijo N; Faille A; Bertrand A; Rossmann M; Goyenechea B; Jin L; Moreil J; Alibeu O; Beaupain B; Bôle-Feysot C; Fumagalli S; Kaltenbach S; Martignoles JA; Masson C; Nitschké P; Parisot M; Pouliet A; Radford-Weiss I; Tores F; de Villartay JP; Zarhrate M; Koh AL; Phua KB; Reversade B; Bond PJ; Bellanné-Chantelot C; Callebaut I; Delhommeau F; Donadieu J; Warren AJ; Revy P
    Nat Commun; 2021 Aug; 12(1):5044. PubMed ID: 34413298
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    Blood; 2021 Nov; 138(21):2117-2128. PubMed ID: 34115847
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in
    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
    J Med Genet; 2017 Aug; 54(8):558-566. PubMed ID: 28331068
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
    Finch AJ; Hilcenko C; Basse N; Drynan LF; Goyenechea B; Menne TF; González Fernández A; Simpson P; D'Santos CS; Arends MJ; Donadieu J; Bellanné-Chantelot C; Costanzo M; Boone C; McKenzie AN; Freund SM; Warren AJ
    Genes Dev; 2011 May; 25(9):917-29. PubMed ID: 21536732
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.
    García-Márquez A; Gijsbers A; de la Mora E; Sánchez-Puig N
    J Biol Chem; 2015 Jul; 290(29):17669-17678. PubMed ID: 25991726
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    Br J Haematol; 2019 May; 185(3):627-630. PubMed ID: 30198570
    [No Abstract]   [Full Text] [Related]  

  • 8. Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics.
    Delre P; Alberga D; Gijsbers A; Sánchez-Puig N; Nicolotti O; Saviano M; Siliqi D; Mangiatordi GF
    J Biomol Struct Dyn; 2020 Oct; 38(17):5219-5229. PubMed ID: 31838967
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Defective ribosome assembly in Shwachman-Diamond syndrome.
    Wong CC; Traynor D; Basse N; Kay RR; Warren AJ
    Blood; 2011 Oct; 118(16):4305-12. PubMed ID: 21803848
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    Nat Struct Mol Biol; 2015 Nov; 22(11):914-9. PubMed ID: 26479198
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.
    Gijsbers A; Montagut DC; Méndez-Godoy A; Altamura D; Saviano M; Siliqi D; Sánchez-Puig N
    Int J Mol Sci; 2018 Dec; 19(12):. PubMed ID: 30545121
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
    Koh AL; Bonnard C; Lim JY; Liew WK; Thoon KC; Thomas T; Ali NAB; Ng AYJ; Tohari S; Phua KB; Venkatesh B; Reversade B; Jamuar SS
    Am J Med Genet A; 2020 Sep; 182(9):2010-2020. PubMed ID: 32657013
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Further evidence for the involvement of
    Tan QK; Cope H; Spillmann RC; Stong N; Jiang YH; McDonald MT; Rothman JA; Butler MW; Frush DP; Lachman RS; Lee B; Bacino CA; Bonner MJ; McCall CM; Pendse AA; Walley N; ; Shashi V; Pena LDM
    Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 29970384
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
    Bezzerri V; Cipolli M
    Mol Diagn Ther; 2019 Apr; 23(2):281-290. PubMed ID: 30413969
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
    Kennedy AL; Myers KC; Bowman J; Gibson CJ; Camarda ND; Furutani E; Muscato GM; Klein RH; Ballotti K; Liu S; Harris CE; Galvin A; Malsch M; Dale D; Gansner JM; Nakano TA; Bertuch A; Vlachos A; Lipton JM; Castillo P; Connelly J; Churpek J; Edwards JR; Hijiya N; Ho RH; Hofmann I; Huang JN; Keel S; Lamble A; Lau BW; Norkin M; Stieglitz E; Stock W; Walkovich K; Boettcher S; Brendel C; Fleming MD; Davies SM; Weller EA; Bahl C; Carter SL; Shimamura A; Lindsley RC
    Nat Commun; 2021 Feb; 12(1):1334. PubMed ID: 33637765
    [TBL] [Abstract][Full Text] [Related]  

  • 16. eIF6 rebinding dynamically couples ribosome maturation and translation.
    Jaako P; Faille A; Tan S; Wong CC; Escudero-Urquijo N; Castro-Hartmann P; Wright P; Hilcenko C; Adams DJ; Warren AJ
    Nat Commun; 2022 Mar; 13(1):1562. PubMed ID: 35322020
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    Biomolecules; 2022 Aug; 12(8):. PubMed ID: 36009035
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.
    Reilly CR; Shimamura A
    Blood; 2023 Mar; 141(13):1513-1523. PubMed ID: 36542827
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evolutionary and functional relationships in the ribosome biogenesis SBDS and EFL1 protein families.
    Méndez-Godoy A; García-Montalvo D; Martínez-Castilla LP; Sánchez-Puig N
    Mol Genet Genomics; 2021 Nov; 296(6):1263-1278. PubMed ID: 34453201
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
    Furutani E; Shah AS; Zhao Y; Andorsky D; Dedeoglu F; Geddis A; Zhou Y; Libermann TA; Myers KC; Shimamura A
    Am J Med Genet A; 2020 Jul; 182(7):1754-1760. PubMed ID: 32293785
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.