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Page 1
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Tona R, Chen W, Nakano Y, Reyes LD, Petralia RS, Wang YX, Starost MF, Wafa TT, Morell RJ, Cravedi KD, du Hoffmann J, Miyoshi T, Munasinghe JP, Fitzgerald TS, Chudasama Y, Omori K, Pierpaoli C, Banfi B, Dong L, Belyantseva IA, Friedman TB. Tona R, et al. Among authors: starost mf. Hum Mol Genet. 2019 May 1;28(9):1530-1547. doi: 10.1093/hmg/ddy445. Hum Mol Genet. 2019. PMID: 30602030 Free PMC article.
Deafness and stria vascularis defects in S1P2 receptor-null mice.
Kono M, Belyantseva IA, Skoura A, Frolenkov GI, Starost MF, Dreier JL, Lidington D, Bolz SS, Friedman TB, Hla T, Proia RL. Kono M, et al. Among authors: starost mf. J Biol Chem. 2007 Apr 6;282(14):10690-6. doi: 10.1074/jbc.M700370200. Epub 2007 Feb 6. J Biol Chem. 2007. PMID: 17284444 Free article.
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.
Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velásquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ. Schultz JM, et al. Among authors: starost mf. Am J Hum Genet. 2009 Jul;85(1):25-39. doi: 10.1016/j.ajhg.2009.06.003. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576567 Free PMC article.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB. Imtiaz A, et al. Among authors: starost mf. Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440. Hum Mol Genet. 2018. PMID: 29293958 Free PMC article.
Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.
Morell RJ, Olszewski R, Tona R, Leitess S, Wafa TT, Taukulis I, Schultz JM, Thomason EJ, Richards K, Whitley BN, Hill C, Saunders T, Starost MF, Fitzgerald T, Wilson E, Ohyama T, Friedman TB, Hoa M. Morell RJ, et al. Among authors: starost mf. J Neurosci. 2020 Apr 8;40(15):2976-2992. doi: 10.1523/JNEUROSCI.2278-19.2020. Epub 2020 Mar 9. J Neurosci. 2020. PMID: 32152201 Free PMC article.
Mouse Prkar1a haploinsufficiency leads to an increase in tumors in the Trp53+/- or Rb1+/- backgrounds and chemically induced skin papillomas by dysregulation of the cell cycle and Wnt signaling.
Almeida MQ, Muchow M, Boikos S, Bauer AJ, Griffin KJ, Tsang KM, Cheadle C, Watkins T, Wen F, Starost MF, Bossis I, Nesterova M, Stratakis CA. Almeida MQ, et al. Among authors: starost mf. Hum Mol Genet. 2010 Apr 15;19(8):1387-98. doi: 10.1093/hmg/ddq014. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080939 Free PMC article.
99 results