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Page 1
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
Theil AF, Mandemaker IK, van den Akker E, Swagemakers SMA, Raams A, Wüst T, Marteijn JA, Giltay JC, Colombijn RM, Moog U, Kotzaeridou U, Ghazvini M, von Lindern M, Hoeijmakers JHJ, Jaspers NGJ, van der Spek PJ, Vermeulen W. Theil AF, et al. Among authors: ghazvini m. Hum Mol Genet. 2017 Dec 1;26(23):4689-4698. doi: 10.1093/hmg/ddx351. Hum Mol Genet. 2017. PMID: 28973399 Free PMC article.
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.
de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V; GROUP Study Consortium; Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA. de Vrij FM, et al. Among authors: ghazvini m. Mol Psychiatry. 2019 May;24(5):757-771. doi: 10.1038/s41380-017-0004-2. Epub 2018 Jan 4. Mol Psychiatry. 2019. PMID: 29302076 Free PMC article.
Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.
de Esch CE, Ghazvini M, Loos F, Schelling-Kazaryan N, Widagdo W, Munshi ST, van der Wal E, Douben H, Gunhanlar N, Kushner SA, Pijnappel WW, de Vrij FM, Geijsen N, Gribnau J, Willemsen R. de Esch CE, et al. Among authors: ghazvini m. Stem Cell Reports. 2014 Oct 14;3(4):548-55. doi: 10.1016/j.stemcr.2014.07.013. Epub 2014 Sep 11. Stem Cell Reports. 2014. PMID: 25358783 Free PMC article.
A simplified protocol for differentiation of electrophysiologically mature neuronal networks from human induced pluripotent stem cells.
Gunhanlar N, Shpak G, van der Kroeg M, Gouty-Colomer LA, Munshi ST, Lendemeijer B, Ghazvini M, Dupont C, Hoogendijk WJG, Gribnau J, de Vrij FMS, Kushner SA. Gunhanlar N, et al. Among authors: ghazvini m. Mol Psychiatry. 2018 May;23(5):1336-1344. doi: 10.1038/mp.2017.56. Epub 2017 Apr 18. Mol Psychiatry. 2018. PMID: 28416807 Free PMC article.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS. Perenthaler E, et al. Among authors: ghazvini m. Acta Neuropathol. 2020 Mar;139(3):415-442. doi: 10.1007/s00401-019-02109-6. Epub 2019 Dec 9. Acta Neuropathol. 2020. PMID: 31820119 Free PMC article.
Cystic renal-epithelial derived induced pluripotent stem cells from polycystic kidney disease patients.
Kenter AT, Rentmeester E, van Riet J, Boers R, Boers J, Ghazvini M, Xavier VJ, van Leenders GJLH, Verhagen PCMS, van Til ME, Eussen B, Losekoot M, de Klein A, Peters DJM, van IJcken WFJ, van de Werken HJG, Zietse R, Hoorn EJ, Jansen G, Gribnau JH. Kenter AT, et al. Among authors: ghazvini m. Stem Cells Transl Med. 2020 Apr;9(4):478-490. doi: 10.1002/sctm.18-0283. Epub 2020 Mar 12. Stem Cells Transl Med. 2020. PMID: 32163234 Free PMC article.
Differential contributions of mammalian Rad54 paralogs to recombination, DNA damage repair, and meiosis.
Wesoly J, Agarwal S, Sigurdsson S, Bussen W, Van Komen S, Qin J, van Steeg H, van Benthem J, Wassenaar E, Baarends WM, Ghazvini M, Tafel AA, Heath H, Galjart N, Essers J, Grootegoed JA, Arnheim N, Bezzubova O, Buerstedde JM, Sung P, Kanaar R. Wesoly J, et al. Among authors: ghazvini m. Mol Cell Biol. 2006 Feb;26(3):976-89. doi: 10.1128/MCB.26.3.976-989.2006. Mol Cell Biol. 2006. PMID: 16428451 Free PMC article.
Stable X chromosome reactivation in female human induced pluripotent stem cells.
Barakat TS, Ghazvini M, de Hoon B, Li T, Eussen B, Douben H, van der Linden R, van der Stap N, Boter M, Laven JS, Galjaard RJ, Grootegoed JA, de Klein A, Gribnau J. Barakat TS, et al. Among authors: ghazvini m. Stem Cell Reports. 2015 Feb 10;4(2):199-208. doi: 10.1016/j.stemcr.2014.12.012. Epub 2015 Jan 29. Stem Cell Reports. 2015. PMID: 25640760 Free PMC article.
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study.
Quadri M, Mandemakers W, Grochowska MM, Masius R, Geut H, Fabrizio E, Breedveld GJ, Kuipers D, Minneboo M, Vergouw LJM, Carreras Mascaro A, Yonova-Doing E, Simons E, Zhao T, Di Fonzo AB, Chang HC, Parchi P, Melis M, Correia Guedes L, Criscuolo C, Thomas A, Brouwer RWW, Heijsman D, Ingrassia AMT, Calandra Buonaura G, Rood JP, Capellari S, Rozemuller AJ, Sarchioto M, Fen Chien H, Vanacore N, Olgiati S, Wu-Chou YH, Yeh TH, Boon AJW, Hoogers SE, Ghazvini M, IJpma AS, van IJcken WFJ, Onofrj M, Barone P, Nicholl DJ, Puschmann A, De Mari M, Kievit AJ, Barbosa E, De Michele G, Majoor-Krakauer D, van Swieten JC, de Jong FJ, Ferreira JJ, Cossu G, Lu CS, Meco G, Cortelli P, van de Berg WDJ, Bonifati V; International Parkinsonism Genetics Network. Quadri M, et al. Among authors: ghazvini m. Lancet Neurol. 2018 Jul;17(7):597-608. doi: 10.1016/S1474-4422(18)30179-0. Epub 2018 Jun 7. Lancet Neurol. 2018. PMID: 29887161
63 results