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Items: 1 to 50 of 195

1.

Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.

Cross SH, Mckie L, Keighren M, West K, Thaung C, Davey T, Soares DC, Sanchez-Pulido L, Jackson IJ.

Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2875-2887. doi: 10.1167/iovs.18-25954.

PMID:
31266059
2.

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, FitzPatrick DR.

PLoS Genet. 2018 Dec 26;14(12):e1007866. doi: 10.1371/journal.pgen.1007866. eCollection 2018 Dec.

3.

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

Morgan MD, Pairo-Castineira E, Rawlik K, Canela-Xandri O, Rees J, Sims D, Tenesa A, Jackson IJ.

Nat Commun. 2018 Dec 10;9(1):5271. doi: 10.1038/s41467-018-07691-z.

4.

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.

Findlay AS, Carter RN, Starbuck B, McKie L, Nováková K, Budd PS, Keighren MA, Marsh JA, Cross SH, Simon MM, Potter PK, Morton NM, Jackson IJ.

Dis Model Mech. 2018 Dec 18;11(12). pii: dmm036426. doi: 10.1242/dmm.036426.

5.

A Cell/Cilia Cycle Biosensor for Single-Cell Kinetics Reveals Persistence of Cilia after G1/S Transition Is a General Property in Cells and Mice.

Ford MJ, Yeyati PL, Mali GR, Keighren MA, Waddell SH, Mjoseng HK, Douglas AT, Hall EA, Sakaue-Sawano A, Miyawaki A, Meehan RR, Boulter L, Jackson IJ, Mill P, Mort RL.

Dev Cell. 2018 Nov 19;47(4):509-523.e5. doi: 10.1016/j.devcel.2018.10.027.

6.

Cell signalling: Red alert about lipid's role in skin cancer.

Jackson IJ, Patton EE.

Nature. 2017 Sep 21;549(7672):337-339. doi: 10.1038/nature23550. Epub 2017 Sep 6. No abstract available.

7.

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P.

Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13.

8.

KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability.

Yeyati PL, Schiller R, Mali G, Kasioulis I, Kawamura A, Adams IR, Playfoot C, Gilbert N, van Heyningen V, Wills J, von Kriegsheim A, Finch A, Sakai J, Schofield CJ, Jackson IJ, Mill P.

J Cell Biol. 2017 Apr 3;216(4):999-1013. doi: 10.1083/jcb.201607032. Epub 2017 Feb 28.

9.

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

Potter PK, Bowl MR, Jeyarajan P, Wisby L, Blease A, Goldsworthy ME, Simon MM, Greenaway S, Michel V, Barnard A, Aguilar C, Agnew T, Banks G, Blake A, Chessum L, Dorning J, Falcone S, Goosey L, Harris S, Haynes A, Heise I, Hillier R, Hough T, Hoslin A, Hutchison M, King R, Kumar S, Lad HV, Law G, MacLaren RE, Morse S, Nicol T, Parker A, Pickford K, Sethi S, Starbuck B, Stelma F, Cheeseman M, Cross SH, Foster RG, Jackson IJ, Peirson SN, Thakker RV, Vincent T, Scudamore C, Wells S, El-Amraoui A, Petit C, Acevedo-Arozena A, Nolan PM, Cox R, Mallon AM, Brown SD.

Nat Commun. 2016 Aug 18;7:12444. doi: 10.1038/ncomms12444.

10.

Reconciling diverse mammalian pigmentation patterns with a fundamental mathematical model.

Mort RL, Ross RJH, Hainey KJ, Harrison OJ, Keighren MA, Landini G, Baker RE, Painter KJ, Jackson IJ, Yates CA.

Nat Commun. 2016 Jan 6;7:10288. doi: 10.1038/ncomms10288.

11.

The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells.

Parker A, Cross SH, Jackson IJ, Hardisty-Hughes R, Morse S, Nicholson G, Coghill E, Bowl MR, Brown SD.

Dis Model Mech. 2015 Dec;8(12):1555-68. doi: 10.1242/dmm.023176. Epub 2015 Nov 5.

12.

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.

Handley MT, Carpanini SM, Mali GR, Sidjanin DJ, Aligianis IA, Jackson IJ, FitzPatrick DR.

Open Biol. 2015 Jun;5(6):150047. doi: 10.1098/rsob.150047.

13.

Maintenance of distinct melanocyte populations in the interfollicular epidermis.

Glover JD, Knolle S, Wells KL, Liu D, Jackson IJ, Mort RL, Headon DJ.

Pigment Cell Melanoma Res. 2015 Jul;28(4):476-80. doi: 10.1111/pcmr.12375. Epub 2015 Apr 30.

14.

The melanocyte lineage in development and disease.

Mort RL, Jackson IJ, Patton EE.

Development. 2015 Apr 1;142(7):1387. doi: 10.1242/dev.123729. No abstract available.

15.

Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction.

Jadeja S, Barnard AR, McKie L, Cross SH, White JK; Sanger Mouse Genetics Project, Robertson M, Budd PS, MacLaren RE, Jackson IJ.

Invest Ophthalmol Vis Sci. 2015 May;56(5):3015-26. doi: 10.1167/iovs.14-15735.

16.

The melanocyte lineage in development and disease.

Mort RL, Jackson IJ, Patton EE.

Development. 2015 Feb 15;142(4):620-32. doi: 10.1242/dev.106567. Review. Erratum in: Development. 2015 Apr 1;142(7):1387.

17.

Fucci2a: a bicistronic cell cycle reporter that allows Cre mediated tissue specific expression in mice.

Mort RL, Ford MJ, Sakaue-Sawano A, Lindstrom NO, Casadio A, Douglas AT, Keighren MA, Hohenstein P, Miyawaki A, Jackson IJ.

Cell Cycle. 2014;13(17):2681-96. doi: 10.4161/15384101.2015.945381.

18.

Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.

Chen J, Ingham N, Kelly J, Jadeja S, Goulding D, Pass J, Mahajan VB, Tsang SH, Nijnik A, Jackson IJ, White JK, Forge A, Jagger D, Steel KP.

PLoS Genet. 2014 Oct 30;10(10):e1004688. doi: 10.1371/journal.pgen.1004688. eCollection 2014 Oct.

19.

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL, Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan E, Jarman AP, Mill P.

PLoS Genet. 2014 Sep 18;10(9):e1004577. doi: 10.1371/journal.pgen.1004577. eCollection 2014 Sep.

20.

Genetic background influences age-related decline in visual and nonvisual retinal responses, circadian rhythms, and sleep.

Banks G, Heise I, Starbuck B, Osborne T, Wisby L, Potter P, Jackson IJ, Foster RG, Peirson SN, Nolan PM.

Neurobiol Aging. 2015 Jan;36(1):380-93. doi: 10.1016/j.neurobiolaging.2014.07.040. Epub 2014 Aug 2.

21.

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.

Handley MT, Mégarbané A, Meynert AM, Brown S, Freyer E, Taylor MS, Jackson IJ, Aligianis IA.

Mol Genet Genomic Med. 2014 Jul;2(4):319-25. doi: 10.1002/mgg3.70. Epub 2014 Mar 11.

22.

Ex vivo culture of mouse embryonic skin and live-imaging of melanoblast migration.

Mort RL, Keighren M, Hay L, Jackson IJ.

J Vis Exp. 2014 May 19;(87). doi: 10.3791/51352.

23.

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

Cross SH, Macalinao DG, McKie L, Rose L, Kearney AL, Rainger J, Thaung C, Keighren M, Jadeja S, West K, Kneeland SC, Smith RS, Howell GR, Young F, Robertson M, van T' Hof R, John SW, Jackson IJ.

PLoS Genet. 2014 May 8;10(5):e1004359. doi: 10.1371/journal.pgen.1004359. eCollection 2014 May. Erratum in: PLoS Genet. 2014 Dec;10(12):e1004917.

24.

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton.

Carpanini SM, McKie L, Thomson D, Wright AK, Gordon SL, Roche SL, Handley MT, Morrison H, Brownstein D, Wishart TM, Cousin MA, Gillingwater TH, Aligianis IA, Jackson IJ.

Dis Model Mech. 2014 Jun;7(6):711-22. doi: 10.1242/dmm.015222. Epub 2014 Apr 24.

25.

Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis.

Kasioulis I, Syred HM, Tate P, Finch A, Shaw J, Seawright A, Fuszard M, Botting CH, Shirran S, Adams IR, Jackson IJ, van Heyningen V, Yeyati PL.

Mol Biol Cell. 2014 Apr;25(8):1216-33. doi: 10.1091/mbc.E13-08-0471. Epub 2014 Feb 19.

26.

Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes.

Hall EA, Keighren M, Ford MJ, Davey T, Jarman AP, Smith LB, Jackson IJ, Mill P.

PLoS Genet. 2013;9(12):e1003928. doi: 10.1371/journal.pgen.1003928. Epub 2013 Dec 26.

27.

A trans-acting protein effect causes severe eye malformation in the Mp mouse.

Rainger J, Keighren M, Keene DR, Charbonneau NL, Rainger JK, Fisher M, Mella S, Huang JT, Rose L, van't Hof R, Sakai LY, Jackson IJ, Fitzpatrick DR.

PLoS Genet. 2013;9(12):e1003998. doi: 10.1371/journal.pgen.1003998. Epub 2013 Dec 12.

28.

How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns.

Jackson IJ.

Pigment Cell Melanoma Res. 2013 Jul;26(4):438-9. doi: 10.1111/pcmr.12101. Epub 2013 Apr 17. No abstract available.

PMID:
23923821
29.

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.

Simon MM, Greenaway S, White JK, Fuchs H, Gailus-Durner V, Wells S, Sorg T, Wong K, Bedu E, Cartwright EJ, Dacquin R, Djebali S, Estabel J, Graw J, Ingham NJ, Jackson IJ, Lengeling A, Mandillo S, Marvel J, Meziane H, Preitner F, Puk O, Roux M, Adams DJ, Atkins S, Ayadi A, Becker L, Blake A, Brooker D, Cater H, Champy MF, Combe R, Danecek P, di Fenza A, Gates H, Gerdin AK, Golini E, Hancock JM, Hans W, Hölter SM, Hough T, Jurdic P, Keane TM, Morgan H, Müller W, Neff F, Nicholson G, Pasche B, Roberson LA, Rozman J, Sanderson M, Santos L, Selloum M, Shannon C, Southwell A, Tocchini-Valentini GP, Vancollie VE, Westerberg H, Wurst W, Zi M, Yalcin B, Ramirez-Solis R, Steel KP, Mallon AM, de Angelis MH, Herault Y, Brown SD.

Genome Biol. 2013 Jul 31;14(7):R82. doi: 10.1186/gb-2013-14-7-r82.

30.

A conditional zebrafish MITF mutation reveals MITF levels are critical for melanoma promotion vs. regression in vivo.

Lister JA, Capper A, Zeng Z, Mathers ME, Richardson J, Paranthaman K, Jackson IJ, Elizabeth Patton E.

J Invest Dermatol. 2014 Jan;134(1):133-140. doi: 10.1038/jid.2013.293. Epub 2013 Jul 5.

31.

Signatures of diversifying selection in European pig breeds.

Wilkinson S, Lu ZH, Megens HJ, Archibald AL, Haley C, Jackson IJ, Groenen MA, Crooijmans RP, Ogden R, Wiener P.

PLoS Genet. 2013 Apr;9(4):e1003453. doi: 10.1371/journal.pgen.1003453. Epub 2013 Apr 25.

32.

A CNS-specific hypomorphic Pdgfr-beta mutant model of diabetic retinopathy.

Jadeja S, Mort RL, Keighren M, Hart AW, Joynson R, Wells S, Potter PK, Jackson IJ.

Invest Ophthalmol Vis Sci. 2013 May 1;54(5):3569-78. doi: 10.1167/iovs.12-11125.

33.

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA.

Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296.

PMID:
23420520
34.

Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.

Kinsler VA, Abu-Amero S, Budd P, Jackson IJ, Ring SM, Northstone K, Atherton DJ, Bulstrode NW, Stanier P, Hennekam RC, Sebire NJ, Moore GE, Healy E.

J Invest Dermatol. 2012 Aug;132(8):2026-32. doi: 10.1038/jid.2012.95. Epub 2012 May 10.

35.

P-Rex1 is required for efficient melanoblast migration and melanoma metastasis.

Lindsay CR, Lawn S, Campbell AD, Faller WJ, Rambow F, Mort RL, Timpson P, Li A, Cammareri P, Ridgway RA, Morton JP, Doyle B, Hegarty S, Rafferty M, Murphy IG, McDermott EW, Sheahan K, Pedone K, Finn AJ, Groben PA, Thomas NE, Hao H, Carson C, Norman JC, Machesky LM, Gallagher WM, Jackson IJ, Van Kempen L, Beermann F, Der C, Larue L, Welch HC, Ozanne BW, Sansom OJ.

Nat Commun. 2011 Nov 22;2:555. doi: 10.1038/ncomms1560.

36.

Rac1 drives melanoblast organization during mouse development by orchestrating pseudopod- driven motility and cell-cycle progression.

Li A, Ma Y, Yu X, Mort RL, Lindsay CR, Stevenson D, Strathdee D, Insall RH, Chernoff J, Snapper SB, Jackson IJ, Larue L, Sansom OJ, Machesky LM.

Dev Cell. 2011 Oct 18;21(4):722-34. doi: 10.1016/j.devcel.2011.07.008. Epub 2011 Sep 15.

37.

Mouse genomic variation and its effect on phenotypes and gene regulation.

Keane TM, Goodstadt L, Danecek P, White MA, Wong K, Yalcin B, Heger A, Agam A, Slater G, Goodson M, Furlotte NA, Eskin E, Nellåker C, Whitley H, Cleak J, Janowitz D, Hernandez-Pliego P, Edwards A, Belgard TG, Oliver PL, McIntyre RE, Bhomra A, Nicod J, Gan X, Yuan W, van der Weyden L, Steward CA, Bala S, Stalker J, Mott R, Durbin R, Jackson IJ, Czechanski A, Guerra-Assunção JA, Donahue LR, Reinholdt LG, Payseur BA, Ponting CP, Birney E, Flint J, Adams DJ.

Nature. 2011 Sep 14;477(7364):289-94. doi: 10.1038/nature10413.

38.

Differentiated melanocyte cell division occurs in vivo and is promoted by mutations in Mitf.

Taylor KL, Lister JA, Zeng Z, Ishizaki H, Anderson C, Kelsh RN, Jackson IJ, Patton EE.

Development. 2011 Aug;138(16):3579-89. doi: 10.1242/dev.064014. Epub 2011 Jul 19.

39.

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR.

PLoS Genet. 2011 Jul;7(7):e1002114. doi: 10.1371/journal.pgen.1002114. Epub 2011 Jul 7. Erratum in: PLoS Genet. 2018 Dec 26;14(12):e1007866.

40.

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ.

Am J Hum Genet. 2011 Apr 8;88(4):508-15. doi: 10.1016/j.ajhg.2011.03.015.

41.

A zebrafish model for nevus regeneration.

Richardson J, Zeng Z, Ceol C, Mione M, Jackson IJ, Patton EE.

Pigment Cell Melanoma Res. 2011 Apr;24(2):378-81. doi: 10.1111/j.1755-148X.2011.00839.x. No abstract available.

42.

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.

Cross SH, McKie L, West K, Coghill EL, Favor J, Bhattacharya S, Brown SD, Jackson IJ.

Hum Mol Genet. 2011 Jan 15;20(2):223-34. doi: 10.1093/hmg/ddq457. Epub 2010 Oct 13.

43.

Involvement of the melanocortin-1 receptor in acute pain and pain of inflammatory but not neuropathic origin.

Delaney A, Keighren M, Fleetwood-Walker SM, Jackson IJ.

PLoS One. 2010 Sep 13;5(9):e12498. doi: 10.1371/journal.pone.0012498.

45.

Human beta-defensin 3 has immunosuppressive activity in vitro and in vivo.

Semple F, Webb S, Li HN, Patel HB, Perretti M, Jackson IJ, Gray M, Davidson DJ, Dorin JR.

Eur J Immunol. 2010 Apr;40(4):1073-8. doi: 10.1002/eji.200940041.

46.

Ex vivo live imaging of melanoblast migration in embryonic mouse skin.

Mort RL, Hay L, Jackson IJ.

Pigment Cell Melanoma Res. 2010 Apr;23(2):299-301. doi: 10.1111/j.1755-148X.2010.00669.x. Epub 2010 Jan 7. No abstract available.

47.

Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume.

Van Agtmael T, Bailey MA, Schlötzer-Schrehardt U, Craigie E, Jackson IJ, Brownstein DG, Megson IL, Mullins JJ.

Hum Mol Genet. 2010 Mar 15;19(6):1119-28. doi: 10.1093/hmg/ddp584. Epub 2010 Jan 7.

48.

Genetic determinants of hair and eye colours in the Scottish and Danish populations.

Mengel-From J, Wong TH, Morling N, Rees JL, Jackson IJ.

BMC Genet. 2009 Dec 30;10:88. doi: 10.1186/1471-2156-10-88.

49.

Palmitoylation regulates epidermal homeostasis and hair follicle differentiation.

Mill P, Lee AW, Fukata Y, Tsutsumi R, Fukata M, Keighren M, Porter RM, McKie L, Smyth I, Jackson IJ.

PLoS Genet. 2009 Nov;5(11):e1000748. doi: 10.1371/journal.pgen.1000748. Epub 2009 Nov 26.

50.

GABAergic amacrine cells and visual function are reduced in PAC1 transgenic mice.

Lang B, Zhao L, Cai L, McKie L, Forrester JV, McCaig CD, Jackson IJ, Shen S.

Neuropharmacology. 2010 Jan;58(1):215-25. doi: 10.1016/j.neuropharm.2009.07.003. Epub 2009 Jul 9.

PMID:
19596361

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