Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 265

1.

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.

Knapp KM, Sullivan R, Murray J, Gimenez G, Arn P, D'Souza P, Gezdirici A, Wilson WG, Jackson AP, Ferreira C, Bicknell LS.

J Med Genet. 2019 Nov 29. pii: jmedgenet-2019-106396. doi: 10.1136/jmedgenet-2019-106396. [Epub ahead of print]

2.

Storybooks to facilitate children's communication following parental suicide: paraprofessional counselors' perceptions.

Regehr LJ, Heath MA, Jackson AP, Nelson D, Cutrer-Párraga EA.

Death Stud. 2019 Nov 21:1-10. doi: 10.1080/07481187.2019.1692972. [Epub ahead of print]

PMID:
31752609
3.

Gating control of the cardiac sodium channel Nav1.5 by its β3-subunit involves distinct roles for a transmembrane glutamic acid and the extracellular domain.

Salvage SC, Zhu W, Habib ZF, Hwang SS, Irons JR, Huang CLH, Silva JR, Jackson AP.

J Biol Chem. 2019 Oct 28. pii: jbc.RA119.010283. doi: 10.1074/jbc.RA119.010283. [Epub ahead of print]

4.

Adverse experiences in early childhood and their longitudinal impact on later behavioral problems of children living in poverty.

Choi JK, Wang D, Jackson AP.

Child Abuse Negl. 2019 Dec;98:104181. doi: 10.1016/j.chiabu.2019.104181. Epub 2019 Sep 12.

PMID:
31521904
5.

VAPPER: High-throughput variant antigen profiling in African trypanosomes of livestock.

Silva Pereira S, Heap J, Jones AR, Jackson AP.

Gigascience. 2019 Sep 1;8(9). pii: giz091. doi: 10.1093/gigascience/giz091.

6.

Clinical expression and antigenic profiles of a Plasmodium vivax vaccine candidate: merozoite surface protein 7 (PvMSP-7).

Cheng CW, Jongwutiwes S, Putaporntip C, Jackson AP.

Malar J. 2019 Jun 13;18(1):197. doi: 10.1186/s12936-019-2826-7.

7.

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.

Hull S, Arno G, Ostergaard P, Pontikos N, Robson AG, Webster AR, Hogg CR, Wright GA, Henderson RHH, Martin CA, Jackson AP, Mansour S, Moore AT, Michaelides M.

Am J Ophthalmol. 2019 Nov;207:87-98. doi: 10.1016/j.ajo.2019.05.001. Epub 2019 May 8.

PMID:
31077665
8.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM.

Hum Mutat. 2019 Aug;40(8):1063-1070. doi: 10.1002/humu.23776. Epub 2019 Jun 23.

9.

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR.

PLoS Genet. 2019 Mar 11;15(3):e1007605. doi: 10.1371/journal.pgen.1007605. eCollection 2019 Mar.

10.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

11.

Transcriptome, proteome and draft genome of Euglena gracilis.

Ebenezer TE, Zoltner M, Burrell A, Nenarokova A, Novák Vanclová AMG, Prasad B, Soukal P, Santana-Molina C, O'Neill E, Nankissoor NN, Vadakedath N, Daiker V, Obado S, Silva-Pereira S, Jackson AP, Devos DP, Lukeš J, Lebert M, Vaughan S, Hampl V, Carrington M, Ginger ML, Dacks JB, Kelly S, Field MC.

BMC Biol. 2019 Feb 7;17(1):11. doi: 10.1186/s12915-019-0626-8.

12.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP.

Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29.

13.

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Heyn P, Logan CV, Fluteau A, Challis RC, Auchynnikava T, Martin CA, Marsh JA, Taglini F, Kilanowski F, Parry DA, Cormier-Daire V, Fong CT, Gibson K, Hwa V, Ibáñez L, Robertson SP, Sebastiani G, Rappsilber J, Allshire RC, Reijns MAM, Dauber A, Sproul D, Jackson AP.

Nat Genet. 2019 Jan;51(1):96-105. doi: 10.1038/s41588-018-0274-x. Epub 2018 Nov 26.

14.

The influence of group values and behavior on adolescent male perceptions of and use of homophobic language.

Bailey BM, Heath MA, Jackson AP, Coyne SM, Williams MS.

J Adolesc. 2018 Dec;69:1-10. doi: 10.1016/j.adolescence.2018.08.005. Epub 2018 Sep 11.

PMID:
30199834
15.

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome.

Llorens-Agost M, Luessing J, van Beneden A, Eykelenboom J, O'Reilly D, Bicknell LS, Reynolds JJ, van Koegelenberg M, Hurles ME, Brady AF, Jackson AP, Stewart GS, Lowndes NF.

Hum Mutat. 2018 Dec;39(12):1847-1853. doi: 10.1002/humu.23648. Epub 2018 Sep 24.

PMID:
30199583
16.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. No abstract available.

17.

The Structure of a Conserved Telomeric Region Associated with Variant Antigen Loci in the Blood Parasite Trypanosoma congolense.

Abbas AH, Silva Pereira S, D'Archivio S, Wickstead B, Morrison LJ, Hall N, Hertz-Fowler C, Darby AC, Jackson AP.

Genome Biol Evol. 2018 Sep 1;10(9):2458-2473. doi: 10.1093/gbe/evy186.

18.

Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin.

Hiller B, Hoppe A, Haase C, Hiller C, Schubert N, Müller W, Reijns MAM, Jackson AP, Kunkel TA, Wenzel J, Behrendt R, Roers A.

Cancer Res. 2018 Oct 15;78(20):5917-5926. doi: 10.1158/0008-5472.CAN-18-1099. Epub 2018 Aug 28.

19.

Dynamical and Biological Panspermia Constraints Within Multi-planet Exosystems.

Veras D, Armstrong DJ, Blake JA, Gutiérrez-Marcos JF, Jackson AP, Schäefer H.

Astrobiology. 2018 Sep;18(9):1106-1122. doi: 10.1089/ast.2017.1786. Epub 2018 Aug 10.

PMID:
30095987
20.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

21.

Variant antigen repertoires in Trypanosoma congolense populations and experimental infections can be profiled from deep sequence data using universal protein motifs.

Silva Pereira S, Casas-Sánchez A, Haines LR, Ogugo M, Absolomon K, Sanders M, Kemp S, Acosta-Serrano Á, Noyes H, Berriman M, Jackson AP.

Genome Res. 2018 Sep;28(9):1383-1394. doi: 10.1101/gr.234146.118. Epub 2018 Jul 13.

22.

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.

Zimmermann M, Murina O, Reijns MAM, Agathanggelou A, Challis R, Tarnauskaitė Ž, Muir M, Fluteau A, Aregger M, McEwan A, Yuan W, Clarke M, Lambros MB, Paneesha S, Moss P, Chandrashekhar M, Angers S, Moffat J, Brunton VG, Hart T, de Bono J, Stankovic T, Jackson AP, Durocher D.

Nature. 2018 Jul;559(7713):285-289. doi: 10.1038/s41586-018-0291-z. Epub 2018 Jul 4.

23.

RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.

Benitez-Guijarro M, Lopez-Ruiz C, Tarnauskaitė Ž, Murina O, Mian Mohammad M, Williams TC, Fluteau A, Sanchez L, Vilar-Astasio R, Garcia-Canadas M, Cano D, Kempen MH, Sanchez-Pozo A, Heras SR, Jackson AP, Reijns MA, Garcia-Perez JL.

EMBO J. 2018 Aug 1;37(15). pii: e98506. doi: 10.15252/embj.201798506. Epub 2018 Jun 29.

24.
25.

Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke.

McGlasson S, Rannikmäe K, Bevan S, Logan C, Bicknell LS, Jury A; UK Young Lacunar Stroke Study, Jackson AP, Markus HS, Sudlow C, Hunt DPJ.

Wellcome Open Res. 2017 Nov 2;2:106. doi: 10.12688/wellcomeopenres.12631.1. eCollection 2017.

26.

Acute effects of exercise on appetite, ad libitum energy intake and appetite-regulatory hormones in lean and overweight/obese men and women.

Douglas JA, King JA, Clayton DJ, Jackson AP, Sargeant JA, Thackray AE, Davies MJ, Stensel DJ.

Int J Obes (Lond). 2017 Dec;41(12):1737-1744. doi: 10.1038/ijo.2017.181. Epub 2017 Aug 3.

27.

cGAS surveillance of micronuclei links genome instability to innate immunity.

Mackenzie KJ, Carroll P, Martin CA, Murina O, Fluteau A, Simpson DJ, Olova N, Sutcliffe H, Rainger JK, Leitch A, Osborn RT, Wheeler AP, Nowotny M, Gilbert N, Chandra T, Reijns MAM, Jackson AP.

Nature. 2017 Aug 24;548(7668):461-465. doi: 10.1038/nature23449. Epub 2017 Jul 24.

28.

Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Bober MB, Jackson AP.

Curr Osteoporos Rep. 2017 Aug;15(4):399. doi: 10.1007/s11914-017-0389-5. No abstract available.

29.

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.

Martin CA, Murray JE, Carroll P, Leitch A, MacKenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study,, Wood AJ, Vagnarelli P, Jackson AP.

Genes Dev. 2017 May 1;31(9):953. doi: 10.1101/gad.300871.117. No abstract available.

30.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Bober MB, Jackson AP.

Curr Osteoporos Rep. 2017 Apr;15(2):61-69. doi: 10.1007/s11914-017-0348-1. Review. Erratum in: Curr Osteoporos Rep. 2017 Jul 15;:.

31.

Multiple targets for flecainide action: implications for cardiac arrhythmogenesis.

Salvage SC, Chandrasekharan KH, Jeevaratnam K, Dulhunty AF, Thompson AJ, Jackson AP, Huang CL.

Br J Pharmacol. 2018 Apr;175(8):1260-1278. doi: 10.1111/bph.13807. Epub 2017 May 12. Review.

32.

Selective Proteomic Proximity Labeling Assay Using Tyramide (SPPLAT): A Quantitative Method for the Proteomic Analysis of Localized Membrane-Bound Protein Clusters.

Rees JS, Li XW, Perrett S, Lilley KS, Jackson AP.

Curr Protoc Protein Sci. 2017 Apr 3;88:19.27.1-19.27.18. doi: 10.1002/cpps.27.

PMID:
28369668
33.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.

Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13.

34.

Correction: Variant Exported Blood-Stage Proteins Encoded by Plasmodium Multigene Families Are Expressed in Liver Stages Where They Are Exported into the Parasitophorous Vacuole.

Fougère A, Jackson AP, Bechtsi DP, Braks JA, Annoura T, Fonager J, Spaccapelo R, Ramesar J, Chevalley-Maurel S, Klop O, van der Laan AM, Tanke HJ, Kocken CH, Pasini EM, Khan SM, Böhme U, van Ooij C, Otto TD, Janse CJ, Franke-Fayard B.

PLoS Pathog. 2017 Jan 17;13(1):e1006128. doi: 10.1371/journal.ppat.1006128. eCollection 2017 Jan.

35.

Correction: Variant Exported Blood-Stage Proteins Encoded by Plasmodium Multigene Families Are Expressed in Liver Stages Where They Are Exported into the Parasitophorous Vacuole.

Fougère A, Jackson AP, Paraskevi Bechtsi D, Braks JA, Annoura T, Fonager J, Spaccapelo R, Ramesar J, Chevalley-Maurel S, Klop O, van der Laan AM, Tanke HJ, Kocken CH, Pasini EM, Khan SM, Böhme U, van Ooij C, Otto TD, Janse CJ, Franke-Fayard B.

PLoS Pathog. 2016 Dec 14;12(12):e1006107. doi: 10.1371/journal.ppat.1006107. eCollection 2016 Dec.

36.

Variant Exported Blood-Stage Proteins Encoded by Plasmodium Multigene Families Are Expressed in Liver Stages Where They Are Exported into the Parasitophorous Vacuole.

Fougère A, Jackson AP, Bechtsi DP, Braks JA, Annoura T, Fonager J, Spaccapelo R, Ramesar J, Chevalley-Maurel S, Klop O, van der Laan AM, Tanke HJ, Kocken CH, Pasini EM, Khan SM, Böhme U, van Ooij C, Otto TD, Janse CJ, Franke-Fayard B.

PLoS Pathog. 2016 Nov 16;12(11):e1005917. doi: 10.1371/journal.ppat.1005917. eCollection 2016 Nov. Erratum in: PLoS Pathog. 2016 Dec 14;12 (12 ):e1006107. PLoS Pathog. 2017 Jan 17;13(1):e1006128.

37.

Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability.

Woodward J, Taylor GC, Soares DC, Boyle S, Sie D, Read D, Chathoth K, Vukovic M, Tarrats N, Jamieson D, Campbell KJ, Blyth K, Acosta JC, Ylstra B, Arends MJ, Kranc KR, Jackson AP, Bickmore WA, Wood AJ.

Genes Dev. 2016 Oct 1;30(19):2173-2186. Epub 2016 Oct 13.

38.

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study, Wood AJ, Vagnarelli P, Jackson AP.

Genes Dev. 2016 Oct 1;30(19):2158-2172. Epub 2016 Oct 13. Erratum in: Genes Dev. 2017 May 1;31(9):953.

39.

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.

Kavanagh D, McGlasson S, Jury A, Williams J, Scolding N, Bellamy C, Gunther C, Ritchie D, Gale DP, Kanwar YS, Challis R, Buist H, Overell J, Weller B, Flossmann O, Blunden M, Meyer EP, Krucker T, Evans SJ, Campbell IL, Jackson AP, Chandran S, Hunt DP.

Blood. 2016 Dec 15;128(24):2824-2833. Epub 2016 Sep 23.

40.

The Effects of Collaborative Care Training on Case Managers' Perceived Depression-Related Services Delivery.

Landry CM, Jackson AP, Tang L, Miranda J, Chung B, Jones F, Ong MK, Wells K.

Psychiatr Serv. 2017 Feb 1;68(2):123-130. doi: 10.1176/appi.ps.201500550. Epub 2016 Sep 15.

41.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS.

Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30.

42.

Genome of Leptomonas pyrrhocoris: a high-quality reference for monoxenous trypanosomatids and new insights into evolution of Leishmania.

Flegontov P, Butenko A, Firsov S, Kraeva N, Eliáš M, Field MC, Filatov D, Flegontova O, Gerasimov ES, Hlaváčová J, Ishemgulova A, Jackson AP, Kelly S, Kostygov AY, Logacheva MD, Maslov DA, Opperdoes FR, O'Reilly A, Sádlová J, Ševčíková T, Venkatesh D, Vlček Č, Volf P, Votýpka J, Záhonová K, Yurchenko V, Lukeš J.

Sci Rep. 2016 Mar 29;6:23704. doi: 10.1038/srep23704.

43.

Gene family phylogeny and the evolution of parasite cell surfaces.

Jackson AP.

Mol Biochem Parasitol. 2016 Sep - Oct;209(1-2):64-75. doi: 10.1016/j.molbiopara.2016.03.007. Epub 2016 Mar 21. Review.

PMID:
27012486
44.

The effect of prone positioning with surgical bolsters on liver blood flow in healthy volunteers.

Chikhani M, Evans DL, Blatcher AW, Jackson AP, Guha IN, Aithal GP, Moppett IK.

Anaesthesia. 2016 May;71(5):550-5. doi: 10.1111/anae.13416. Epub 2016 Mar 7.

45.

Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.

Mackenzie KJ, Carroll P, Lettice L, Tarnauskaitė Ž, Reddy K, Dix F, Revuelta A, Abbondati E, Rigby RE, Rabe B, Kilanowski F, Grimes G, Fluteau A, Devenney PS, Hill RE, Reijns MA, Jackson AP.

EMBO J. 2016 Apr 15;35(8):831-44. doi: 10.15252/embj.201593339. Epub 2016 Feb 22.

46.

Kinetoplastid Phylogenomics Reveals the Evolutionary Innovations Associated with the Origins of Parasitism.

Jackson AP, Otto TD, Aslett M, Armstrong SD, Bringaud F, Schlacht A, Hartley C, Sanders M, Wastling JM, Dacks JB, Acosta-Serrano A, Field MC, Ginger ML, Berriman M.

Curr Biol. 2016 Jan 25;26(2):161-172. doi: 10.1016/j.cub.2015.11.055. Epub 2015 Dec 24. Review.

47.

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

Krøigård AB, Jackson AP, Bicknell LS, Baple E, Brusgaard K, Hansen LK, Ousager LB.

Clin Dysmorphol. 2016 Apr;25(2):68-72. doi: 10.1097/MCD.0000000000000110. No abstract available.

48.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP.

Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23.

49.

Meier-Gorlin syndrome.

de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM.

Orphanet J Rare Dis. 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. Review.

50.

Protein Neighbors and Proximity Proteomics.

Rees JS, Li XW, Perrett S, Lilley KS, Jackson AP.

Mol Cell Proteomics. 2015 Nov;14(11):2848-56. doi: 10.1074/mcp.R115.052902. Epub 2015 Sep 8. Review.

Supplemental Content

Loading ...
Support Center