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Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.
Joyce PI, Fratta P, Landman AS, Mcgoldrick P, Wackerhage H, Groves M, Busam BS, Galino J, Corrochano S, Beskina OA, Esapa C, Ryder E, Carter S, Stewart M, Codner G, Hilton H, Teboul L, Tucker J, Lionikas A, Estabel J, Ramirez-Solis R, White JK, Brandner S, Plagnol V, Bennet DL, Abramov AY, Greensmith L, Fisher EM, Acevedo-Arozena A. Joyce PI, et al. Among authors: esapa c. Hum Mol Genet. 2016 Jan 15;25(2):291-307. doi: 10.1093/hmg/ddv471. Epub 2015 Nov 24. Hum Mol Genet. 2016. PMID: 26604141 Free PMC article.
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.
de Angelis MH, Nicholson G, Selloum M, White J, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs H, Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, Amann G, André P, Atkins S, Auburtin A, Ayadi A, Becker J, Becker L, Bedu E, Bekeredjian R, Birling MC, Blake A, Bottomley J, Bowl M, Brault V, Busch DH, Bussell JN, Calzada-Wack J, Cater H, Champy MF, Charles P, Chevalier C, Chiani F, Codner GF, Combe R, Cox R, Dalloneau E, Dierich A, Di Fenza A, Doe B, Duchon A, Eickelberg O, Esapa CT, El Fertak L, Feigel T, Emelyanova I, Estabel J, Favor J, Flenniken A, Gambadoro A, Garrett L, Gates H, Gerdin AK, Gkoutos G, Greenaway S, Glasl L, Goetz P, Da Cruz IG, Götz A, Graw J, Guimond A, Hans W, Hicks G, Hölter SM, Höfler H, Hancock JM, Hoehndorf R, Hough T, Houghton R, Hurt A, Ivandic B, Jacobs H, Jacquot S, Jones N, Karp NA, Katus HA, Kitchen S, Klein-Rodewald T, Klingenspor M, Klopstock T, Lalanne V, Leblanc S, Lengger C, le Marchand E, Ludwig T, Lux A, McKerlie C, Maier H, Mandel JL, Marschall S, Mark M, Melvin DG, Meziane H, Micklich K, Mittelhauser C, Monassier L, Moulaert D, Muller S, Naton B, Neff F, Nolan PM, Nutter LM, Ollert M, Pavlovic G, Pellegata NS, … See abstract for full author list ➔ de Angelis MH, et al. Among authors: esapa ct. Nat Genet. 2015 Sep;47(9):969-978. doi: 10.1038/ng.3360. Epub 2015 Jul 27. Nat Genet. 2015. PMID: 26214591 Free PMC article.
Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling.
Richards T, Modarage K, Dean C, McCarthy-Boxer A, Hilton H, Esapa C, Norman J, Wilson P, Goggolidou P. Richards T, et al. Among authors: esapa c. Biochim Biophys Acta Mol Basis Dis. 2019 Feb 1;1865(2):378-390. doi: 10.1016/j.bbadis.2018.11.003. Epub 2018 Nov 7. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30414501 Free PMC article.
ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis.
Goggolidou P, Stevens JL, Agueci F, Keynton J, Wheway G, Grimes DT, Patel SH, Hilton H, Morthorst SK, DiPaolo A, Williams DJ, Sanderson J, Khoronenkova SV, Powles-Glover N, Ermakov A, Esapa CT, Romero R, Dianov GL, Briscoe J, Johnson CA, Pedersen LB, Norris DP. Goggolidou P, et al. Development. 2014 Oct;141(20):3966-77. doi: 10.1242/dev.107755. Development. 2014. PMID: 25294941 Free PMC article.
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways.
Agnew T, Goldsworthy M, Aguilar C, Morgan A, Simon M, Hilton H, Esapa C, Wu Y, Cater H, Bentley L, Scudamore C, Poulton J, Morten KJ, Thompson K, He L, Brown SDM, Taylor RW, Bowl MR, Cox RD. Agnew T, et al. Among authors: esapa c. Cell Rep. 2018 Dec 18;25(12):3315-3328.e6. doi: 10.1016/j.celrep.2018.11.080. Cell Rep. 2018. PMID: 30566859 Free PMC article.
46 results