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Human and mouse essentiality screens as a resource for disease gene discovery.
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H, Flenniken AM, Morgan H, Westerberg H, Konopka T, Hsu CW, Christiansen A, Lanza DG, Beaudet AL, Heaney JD, Fuchs H, Gailus-Durner V, Sorg T, Prochazka J, Novosadova V, Lelliott CJ, Wardle-Jones H, Wells S, Teboul L, Cater H, Stewart M, Hough T, Wurst W, Sedlacek R, Adams DJ, Seavitt JR, Tocchini-Valentini G, Mammano F, Braun RE, McKerlie C, Herault Y, de Angelis MH, Mallon AM, Lloyd KCK, Brown SDM, Parkinson H, Meehan TF, Smedley D; Genomics England Research Consortium; International Mouse Phenotyping Consortium. Cacheiro P, et al. Among authors: prochazka j. Nat Commun. 2020 Jan 31;11(1):655. doi: 10.1038/s41467-020-14284-2. Nat Commun. 2020. PMID: 32005800 Free PMC article.
Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype.
Szczerkowska KI, Petrezselyova S, Lindovsky J, Palkova M, Dvorak J, Makovicky P, Fang M, Jiang C, Chen L, Shi M, Liu X, Zhang J, Kubik-Zahorodna A, Schuster B, Beck IM, Novosadova V, Prochazka J, Sedlacek R. Szczerkowska KI, et al. Among authors: prochazka j. Cell Biosci. 2019 Feb 21;9:21. doi: 10.1186/s13578-019-0280-4. eCollection 2019. Cell Biosci. 2019. PMID: 30834109 Free PMC article.
WNT5A is transported via lipoprotein particles in the cerebrospinal fluid to regulate hindbrain morphogenesis.
Kaiser K, Gyllborg D, Procházka J, Salašová A, Kompaníková P, Molina FL, Laguna-Goya R, Radaszkiewicz T, Harnoš J, Procházková M, Potěšil D, Barker RA, Casado ÁG, Zdráhal Z, Sedláček R, Arenas E, Villaescusa JC, Bryja V. Kaiser K, et al. Among authors: prochazka j. Nat Commun. 2019 Apr 2;10(1):1498. doi: 10.1038/s41467-019-09298-4. Nat Commun. 2019. PMID: 30940800 Free PMC article.
Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.
Swan AL, Schütt C, Rozman J, Del Mar Muñiz Moreno M, Brandmaier S, Simon M, Leuchtenberger S, Griffiths M, Brommage R, Keskivali-Bond P, Grallert H, Werner T, Teperino R, Becker L, Miller G, Moshiri A, Seavitt JR, Cissell DD, Meehan TF, Acar EF, Lelliott CJ, Flenniken AM, Champy MF, Sorg T, Ayadi A, Braun RE, Cater H, Dickinson ME, Flicek P, Gallegos J, Ghirardello EJ, Heaney JD, Jacquot S, Lally C, Logan JG, Teboul L, Mason J, Spielmann N, McKerlie C, Murray SA, Nutter LMJ, Odfalk KF, Parkinson H, Prochazka J, Reynolds CL, Selloum M, Spoutil F, Svenson KL, Vales TS, Wells SE, White JK, Sedlacek R, Wurst W, Lloyd KCK, Croucher PI, Fuchs H, Williams GR, Bassett JHD, Gailus-Durner V, Herault Y, Mallon AM, Brown SDM, Mayer-Kuckuk P, Hrabe de Angelis M; IMPC Consortium. Swan AL, et al. Among authors: prochazka j. PLoS Genet. 2020 Dec 28;16(12):e1009190. doi: 10.1371/journal.pgen.1009190. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33370286 Free PMC article.
Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene.
Šedová L, Buková I, Bažantová P, Petrezsélyová S, Prochazka J, Školníková E, Zudová D, Včelák J, Makovický P, Bendlová B, Šeda O, Sedlacek R. Šedová L, et al. Among authors: prochazka j. Int J Mol Sci. 2021 Apr 7;22(8):3810. doi: 10.3390/ijms22083810. Int J Mol Sci. 2021. PMID: 33916973 Free PMC article.
526 results