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Page 1
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. Schrauwen I, et al. Among authors: lafont dt. J Bone Miner Res. 2019 Feb;34(2):375-386. doi: 10.1002/jbmr.3594. Epub 2018 Nov 5. J Bone Miner Res. 2019. PMID: 30395363 Free PMC article. Clinical Trial.
Slc20a2, Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength.
Beck-Cormier S, Lelliott CJ, Logan JG, Lafont DT, Merametdjian L, Leitch VD, Butterfield NC, Protheroe HJ, Croucher PI, Baldock PA, Gaultier-Lintia A, Maugars Y, Nicolas G, Banse C, Normant S, Magne N, Gérardin E, Bon N, Sourice S, Guicheux J, Beck L, Williams GR, Bassett JHD. Beck-Cormier S, et al. Among authors: lafont dt. J Bone Miner Res. 2019 Jun;34(6):1101-1114. doi: 10.1002/jbmr.3691. Epub 2019 Mar 19. J Bone Miner Res. 2019. PMID: 30721528 Free PMC article.
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.
White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC; Sanger Institute Mouse Genetics Project; Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP. White JK, et al. Cell. 2013 Jul 18;154(2):452-64. doi: 10.1016/j.cell.2013.06.022. Cell. 2013. PMID: 23870131 Free PMC article.
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
Chee JM, Lanoue L, Clary D, Higgins K, Bower L, Flenniken A, Guo R, Adams DJ, Bosch F, Braun RE, Brown SDM, Chin HG, Dickinson ME, Hsu CW, Dobbie M, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Mammano F, Nutter LMJ, Parkinson H, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y; International Mouse Phenotyping Consortium; Brooks B, McKerlie C, Lloyd KCK, Westerberg H, Moshiri A. Chee JM, et al. BMC Biol. 2023 Feb 3;21(1):22. doi: 10.1186/s12915-022-01475-0. BMC Biol. 2023. PMID: 36737727 Free PMC article.
Alkaline ceramidase 1 is essential for mammalian skin homeostasis and regulating whole-body energy expenditure.
Liakath-Ali K, Vancollie VE, Lelliott CJ, Speak AO, Lafont D, Protheroe HJ, Ingvorsen C, Galli A, Green A, Gleeson D, Ryder E, Glover L, Vizcay-Barrena G, Karp NA, Arends MJ, Brenn T, Spiegel S, Adams DJ, Watt FM, van der Weyden L. Liakath-Ali K, et al. J Pathol. 2016 Jul;239(3):374-83. doi: 10.1002/path.4737. Epub 2016 May 30. J Pathol. 2016. PMID: 27126290 Free PMC article.
The role of sphingosine-1-phosphate transporter Spns2 in immune system function.
Nijnik A, Clare S, Hale C, Chen J, Raisen C, Mottram L, Lucas M, Estabel J, Ryder E, Adissu H; Sanger Mouse Genetics Project; Adams NC, Ramirez-Solis R, White JK, Steel KP, Dougan G, Hancock RE. Nijnik A, et al. J Immunol. 2012 Jul 1;189(1):102-11. doi: 10.4049/jimmunol.1200282. Epub 2012 Jun 4. J Immunol. 2012. PMID: 22664872 Free PMC article.
Targeting of Slc25a21 is associated with orofacial defects and otitis media due to disrupted expression of a neighbouring gene.
Maguire S, Estabel J, Ingham N, Pearson S, Ryder E, Carragher DM, Walker N; Sanger MGP Slc25a21 Project Team; Bussell J, Chan WI, Keane TM, Adams DJ, Scudamore CL, Lelliott CJ, Ramírez-Solis R, Karp NA, Steel KP, White JK, Gerdin AK. Maguire S, et al. PLoS One. 2014 Mar 18;9(3):e91807. doi: 10.1371/journal.pone.0091807. eCollection 2014. PLoS One. 2014. PMID: 24642684 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.
Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome.
Balmus G, Larrieu D, Barros AC, Collins C, Abrudan M, Demir M, Geisler NJ, Lelliott CJ, White JK, Karp NA, Atkinson J, Kirton A, Jacobsen M, Clift D, Rodriguez R; Sanger Mouse Genetics Project; Adams DJ, Jackson SP. Balmus G, et al. Nat Commun. 2018 Apr 27;9(1):1700. doi: 10.1038/s41467-018-03770-3. Nat Commun. 2018. PMID: 29703891 Free PMC article.
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. Nat Commun. 2020 Jan 31;11(1):655. doi: 10.1038/s41467-020-14284-2. Nat Commun. 2020. PMID: 32005800 Free PMC article.
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