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Year Number of Results
2014 5
2015 8
2016 15
2017 20
2018 13
2019 21
2020 13
2021 9
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89 results
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Page 1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Comprehensive Proteomic Analysis of Human Erythropoiesis.
Gautier EF, Ducamp S, Leduc M, Salnot V, Guillonneau F, Dussiot M, Hale J, Giarratana MC, Raimbault A, Douay L, Lacombe C, Mohandas N, Verdier F, Zermati Y, Mayeux P. Gautier EF, et al. Cell Rep. 2016 Aug 2;16(5):1470-1484. doi: 10.1016/j.celrep.2016.06.085. Epub 2016 Jul 21. Cell Rep. 2016. PMID: 27452463 Free PMC article.
A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome.
Bondu S, Alary AS, Lefèvre C, Houy A, Jung G, Lefebvre T, Rombaut D, Boussaid I, Bousta A, Guillonneau F, Perrier P, Alsafadi S, Wassef M, Margueron R, Rousseau A, Droin N, Cagnard N, Kaltenbach S, Winter S, Kubasch AS, Bouscary D, Santini V, Toma A, Hunault M, Stamatoullas A, Gyan E, Cluzeau T, Platzbecker U, Adès L, Puy H, Stern MH, Karim Z, Mayeux P, Nemeth E, Park S, Ganz T, Kautz L, Kosmider O, Fontenay M. Bondu S, et al. Sci Transl Med. 2019 Jul 10;11(500):eaav5467. doi: 10.1126/scitranslmed.aav5467. Sci Transl Med. 2019. PMID: 31292266 Free PMC article. Clinical Trial.
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G. Arrondel C, et al. Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x. Nat Commun. 2019. PMID: 31481669 Free PMC article.
Lkb1 suppresses amino acid-driven gluconeogenesis in the liver.
Just PA, Charawi S, Denis RGP, Savall M, Traore M, Foretz M, Bastu S, Magassa S, Senni N, Sohier P, Wursmer M, Vasseur-Cognet M, Schmitt A, Le Gall M, Leduc M, Guillonneau F, De Bandt JP, Mayeux P, Romagnolo B, Luquet S, Bossard P, Perret C. Just PA, et al. Nat Commun. 2020 Nov 30;11(1):6127. doi: 10.1038/s41467-020-19490-6. Nat Commun. 2020. PMID: 33257663 Free PMC article.
Comprehensive proteomic analysis of murine terminal erythroid differentiation.
Gautier EF, Leduc M, Ladli M, Schulz VP, Lefèvre C, Boussaid I, Fontenay M, Lacombe C, Verdier F, Guillonneau F, Hillyer CD, Mohandas N, Gallagher PG, Mayeux P. Gautier EF, et al. Blood Adv. 2020 Apr 14;4(7):1464-1477. doi: 10.1182/bloodadvances.2020001652. Blood Adv. 2020. PMID: 32282884 Free PMC article.
p53 activation during ribosome biogenesis regulates normal erythroid differentiation.
Le Goff S, Boussaid I, Floquet C, Raimbault A, Hatin I, Andrieu-Soler C, Salma M, Leduc M, Gautier EF, Guyot B, d'Allard D, Montel-Lehry N, Ducamp S, Houvert A, Guillonneau F, Giraudier S, Cramer-Bordé E, Morlé F, Diaz JJ, Hermine O, Taylor N, Kinet S, Verdier F, Padua RA, Mohandas N, Gleizes PE, Soler E, Mayeux P, Fontenay M. Le Goff S, et al. Blood. 2021 Jan 7;137(1):89-102. doi: 10.1182/blood.2019003439. Blood. 2021. PMID: 32818241
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