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Journal Abstract Search

270 related items for PubMed ID: 33199730

  • 1. RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
    Farooq M, Lindbæk L, Krogh N, Doganli C, Keller C, Mönnich M, Gonçalves AB, Sakthivel S, Mang Y, Fatima A, Andersen VS, Hussain MS, Eiberg H, Hansen L, Kjaer KW, Gopalakrishnan J, Pedersen LB, Møllgård K, Nielsen H, Baig SM, Tommerup N, Christensen ST, Larsen LA.
    Nat Commun; 2020 Nov 16; 11(1):5816. PubMed ID: 33199730
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  • 4. RINT-1 interacts with MSP58 within nucleoli and plays a role in ribosomal gene transcription.
    Yang CP, Kuo YL, Lee YC, Lee KH, Chiang CW, Wang JM, Hsu CC, Chang WC, Lin DY.
    Biochem Biophys Res Commun; 2016 Sep 16; 478(2):873-80. PubMed ID: 27530925
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  • 5. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
    Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P.
    Am J Hum Genet; 2012 May 04; 90(5):871-8. PubMed ID: 22521416
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  • 8. Nom1 mediates pancreas development by regulating ribosome biogenesis in zebrafish.
    Qin W, Chen Z, Zhang Y, Yan R, Yan G, Li S, Zhong H, Lin S.
    PLoS One; 2014 May 04; 9(6):e100796. PubMed ID: 24967912
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  • 9. A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
    Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Altmüller J, Thiele H, Hussain MS, Cirak S, Baig SM, Nürnberg P.
    Genes (Basel); 2021 Sep 24; 12(10):. PubMed ID: 34680889
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  • 10. Aberrant cortical development is driven by impaired cell cycle and translational control in a DDX3X syndrome model.
    Hoye ML, Calviello L, Poff AJ, Ejimogu NE, Newman CR, Montgomery MD, Ou J, Floor SN, Silver DL.
    Elife; 2022 Jun 28; 11():. PubMed ID: 35762573
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  • 11. Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage.
    Burkhalter MD, Stiff T, Maerz LD, Casar Tena T, Wiese H, Gerhards J, Sailer SA, Vu LAT, Duong Phu M, Donow C, Alupei M, Iben S, Groth M, Wiese S, Church JA, Jeggo PA, Philipp M.
    Cell Death Dis; 2024 Sep 09; 15(9):660. PubMed ID: 39251572
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  • 12. The Yin and Yang of Autosomal Recessive Primary Microcephaly Genes: Insights from Neurogenesis and Carcinogenesis.
    Zhou X, Zhi Y, Yu J, Xu D.
    Int J Mol Sci; 2020 Mar 01; 21(5):. PubMed ID: 32121580
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  • 13. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
    Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS.
    Brain; 2019 Apr 01; 142(4):867-884. PubMed ID: 30879067
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  • 14. The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.
    Shohayeb B, Ho U, Yeap YY, Parton RG, Millard SS, Xu Z, Piper M, Ng DCH.
    Hum Mol Genet; 2020 Jan 15; 29(2):248-263. PubMed ID: 31816041
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  • 15. Time is of the essence: the molecular mechanisms of primary microcephaly.
    Phan TP, Holland AJ.
    Genes Dev; 2021 Dec 01; 35(23-24):1551-1578. PubMed ID: 34862179
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  • 16. CPAP promotes timely cilium disassembly to maintain neural progenitor pool.
    Gabriel E, Wason A, Ramani A, Gooi LM, Keller P, Pozniakovsky A, Poser I, Noack F, Telugu NS, Calegari F, Šarić T, Hescheler J, Hyman AA, Gottardo M, Callaini G, Alkuraya FS, Gopalakrishnan J.
    EMBO J; 2016 Apr 15; 35(8):803-19. PubMed ID: 26929011
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  • 17. The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
    Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG.
    Am J Hum Genet; 2011 May 13; 88(5):523-35. PubMed ID: 21529752
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  • 19. DNA Replication proteins in primary microcephaly syndromes.
    Tingler M, Philipp M, Burkhalter MD.
    Biol Cell; 2022 Jun 13; 114(6):143-159. PubMed ID: 35182397
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