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3,073 results

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Page 1
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
Matsumura K, Seiriki K, Okada S, Nagase M, Ayabe S, Yamada I, Furuse T, Shibuya H, Yasuda Y, Yamamori H, Fujimoto M, Nagayasu K, Yamamoto K, Kitagawa K, Miura H, Gotoda-Nishimura N, Igarashi H, Hayashida M, Baba M, Kondo M, Hasebe S, Ueshima K, Kasai A, Ago Y, Hayata-Takano A, Shintani N, Iguchi T, Sato M, Yamaguchi S, Tamura M, Wakana S, Yoshiki A, Watabe AM, Okano H, Takuma K, Hashimoto R, Hashimoto H, Nakazawa T. Matsumura K, et al. Among authors: tamura m. Nat Commun. 2020 Feb 26;11(1):859. doi: 10.1038/s41467-020-14697-z. Nat Commun. 2020. PMID: 32103003 Free PMC article.
High-throughput discovery of novel developmental phenotypes.
Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center; MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bućan M, Murray SA. Dickinson ME, et al. Among authors: tamura m. Nature. 2016 Sep 22;537(7621):508-514. doi: 10.1038/nature19356. Epub 2016 Sep 14. Nature. 2016. PMID: 27626380 Free PMC article.
New insights into the role of Jmjd3 and Utx in axial skeletal formation in mice.
Naruse C, Shibata S, Tamura M, Kawaguchi T, Abe K, Sugihara K, Kato T, Nishiuchi T, Wakana S, Ikawa M, Asano M. Naruse C, et al. Among authors: tamura m. FASEB J. 2017 Jun;31(6):2252-2266. doi: 10.1096/fj.201600642R. Epub 2017 Feb 10. FASEB J. 2017. PMID: 28188179
These results suggest that the demethylase activity of Jmjd3, but not that of Utx, affects mouse axial patterning in concert with alterations in Hox gene expression.-Naruse, C., Shibata, S., Tamura, M., Kawaguchi, T., Abe, K., Sugihara, K., Kato, T., Nishiuchi, T., …
These results suggest that the demethylase activity of Jmjd3, but not that of Utx, affects mouse axial patterning in concert with alteration …
Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene.
Fujihira H, Masahara-Negishi Y, Tamura M, Huang C, Harada Y, Wakana S, Takakura D, Kawasaki N, Taniguchi N, Kondoh G, Yamashita T, Funakoshi Y, Suzuki T. Fujihira H, et al. Among authors: tamura m. PLoS Genet. 2017 Apr 20;13(4):e1006696. doi: 10.1371/journal.pgen.1006696. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28426790 Free PMC article.
Prevalence of sexual dimorphism in mammalian phenotypic traits.
Karp NA, Mason J, Beaudet AL, Benjamini Y, Bower L, Braun RE, Brown SDM, Chesler EJ, Dickinson ME, Flenniken AM, Fuchs H, Angelis MH, Gao X, Guo S, Greenaway S, Heller R, Herault Y, Justice MJ, Kurbatova N, Lelliott CJ, Lloyd KCK, Mallon AM, Mank JE, Masuya H, McKerlie C, Meehan TF, Mott RF, Murray SA, Parkinson H, Ramirez-Solis R, Santos L, Seavitt JR, Smedley D, Sorg T, Speak AO, Steel KP, Svenson KL; International Mouse Phenotyping Consortium; Wakana S, West D, Wells S, Westerberg H, Yaacoby S, White JK. Karp NA, et al. Nat Commun. 2017 Jun 26;8:15475. doi: 10.1038/ncomms15475. Nat Commun. 2017. PMID: 28650954 Free PMC article.
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.
Bowl MR, Simon MM, Ingham NJ, Greenaway S, Santos L, Cater H, Taylor S, Mason J, Kurbatova N, Pearson S, Bower LR, Clary DA, Meziane H, Reilly P, Minowa O, Kelsey L; International Mouse Phenotyping Consortium; Tocchini-Valentini GP, Gao X, Bradley A, Skarnes WC, Moore M, Beaudet AL, Justice MJ, Seavitt J, Dickinson ME, Wurst W, de Angelis MH, Herault Y, Wakana S, Nutter LMJ, Flenniken AM, McKerlie C, Murray SA, Svenson KL, Braun RE, West DB, Lloyd KCK, Adams DJ, White J, Karp N, Flicek P, Smedley D, Meehan TF, Parkinson HE, Teboul LM, Wells S, Steel KP, Mallon AM, Brown SDM. Bowl MR, et al. Nat Commun. 2017 Oct 12;8(1):886. doi: 10.1038/s41467-017-00595-4. Nat Commun. 2017. PMID: 29026089 Free PMC article.
Identification of genetic elements in metabolism by high-throughput mouse phenotyping.
Rozman J, Rathkolb B, Oestereicher MA, Schütt C, Ravindranath AC, Leuchtenberger S, Sharma S, Kistler M, Willershäuser M, Brommage R, Meehan TF, Mason J, Haselimashhadi H; IMPC Consortium; Hough T, Mallon AM, Wells S, Santos L, Lelliott CJ, White JK, Sorg T, Champy MF, Bower LR, Reynolds CL, Flenniken AM, Murray SA, Nutter LMJ, Svenson KL, West D, Tocchini-Valentini GP, Beaudet AL, Bosch F, Braun RB, Dobbie MS, Gao X, Herault Y, Moshiri A, Moore BA, Kent Lloyd KC, McKerlie C, Masuya H, Tanaka N, Flicek P, Parkinson HE, Sedlacek R, Seong JK, Wang CL, Moore M, Brown SD, Tschöp MH, Wurst W, Klingenspor M, Wolf E, Beckers J, Machicao F, Peter A, Staiger H, Häring HU, Grallert H, Campillos M, Maier H, Fuchs H, Gailus-Durner V, Werner T, Hrabe de Angelis M. Rozman J, et al. Nat Commun. 2018 Jan 18;9(1):288. doi: 10.1038/s41467-017-01995-2. Nat Commun. 2018. PMID: 29348434 Free PMC article.
Melanocytes contribute to the vasculature of the choroid.
Shibuya H, Watanabe R, Maeno A, Ichimura K, Tamura M, Wakana S, Shiroishi T, Ohba K, Takeda K, Tomita H, Shibahara S, Yamamoto H. Shibuya H, et al. Among authors: tamura m. Genes Genet Syst. 2018 Sep 15;93(2):51-58. doi: 10.1266/ggs.17-00058. Epub 2018 Apr 2. Genes Genet Syst. 2018. PMID: 29607881 Free article.
3,073 results