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Items: 32

1.

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.

Levine AP, Chan MMY, Sadeghi-Alavijeh O, Wong EKS, Cook HT, Ashford S, Carss K, Christian MT, Hall M, Harris CL, McAlinden P, Marchbank KJ, Marks SD, Maxwell H, Megy K, Penkett CJ, Mozere M, Stirrups KE, Tuna S, Wessels J, Whitehorn D; MPGN/DDD/C3 Glomerulopathy Rare Disease Group; NIHR BioResource, Johnson SA, Gale DP.

J Am Soc Nephrol. 2020 Jan 9. pii: ASN.2019040433. doi: 10.1681/ASN.2019040433. [Epub ahead of print]

PMID:
31919107
2.

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet JC, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA; NIHR BioResource, Frontini M, Freson K, Turro E.

Blood. 2019 Dec 5;134(23):2070-2081. doi: 10.1182/blood.2019000782.

PMID:
31217188
3.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

4.

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource, Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K.

Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.

PMID:
31064749
5.

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.

Heremans J, Garcia-Perez JE, Turro E, Schlenner SM, Casteels I, Collin R, de Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K; National Institute for Health Research BioResource, Thys C, Van Geet C, Van Nieuwenhove E, Wouters C, Meyts I, Freson K, Liston A.

J Allergy Clin Immunol. 2018 Aug;142(2):630-646. doi: 10.1016/j.jaci.2017.11.061. Epub 2018 Jan 31.

PMID:
29391254
6.

Platelet function is modified by common sequence variation in megakaryocyte super enhancers.

Petersen R, Lambourne JJ, Javierre BM, Grassi L, Kreuzhuber R, Ruklisa D, Rosa IM, Tomé AR, Elding H, van Geffen JP, Jiang T, Farrow S, Cairns J, Al-Subaie AM, Ashford S, Attwood A, Batista J, Bouman H, Burden F, Choudry FA, Clarke L, Flicek P, Garner SF, Haimel M, Kempster C, Ladopoulos V, Lenaerts AS, Materek PM, McKinney H, Meacham S, Mead D, Nagy M, Penkett CJ, Rendon A, Seyres D, Sun B, Tuna S, van der Weide ME, Wingett SW, Martens JH, Stegle O, Richardson S, Vallier L, Roberts DJ, Freson K, Wernisch L, Stunnenberg HG, Danesh J, Fraser P, Soranzo N, Butterworth AS, Heemskerk JW, Turro E, Spivakov M, Ouwehand WH, Astle WJ, Downes K, Kostadima M, Frontini M.

Nat Commun. 2017 Jul 13;8:16058. doi: 10.1038/ncomms16058.

7.

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD; NIHR BioResource, Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E.

Blood. 2017 Jan 26;129(4):520-524. doi: 10.1182/blood-2016-08-732248. Epub 2016 Nov 14.

8.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E.

Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.

9.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett CJ, Ashford S, Attwood A, Austin S, Bakchoul T, Collins P, Deevi SV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C; BRIDGE-BPD Consortium, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WH.

Sci Transl Med. 2016 Mar 2;8(328):328ra30. doi: 10.1126/scitranslmed.aad7666. Epub 2016 Mar 2.

10.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD.

Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24.

11.

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.

Ba-Abbad R, Arno G, Carss K, Stirrups K, Penkett CJ, Moore AT, Michaelides M, Raymond FL, Webster AR, Holder GE.

Ophthalmology. 2016 Mar;123(3):668-71.e2. doi: 10.1016/j.ophtha.2015.09.045. Epub 2015 Nov 7. No abstract available.

PMID:
26560832
12.

Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing.

Rainbow DB, Yang X, Burren O, Pekalski ML, Smyth DJ, Klarqvist MD, Penkett CJ, Brugger K, Martin H, Todd JA, Wallace C, Wicker LS.

Eur J Immunol. 2015 Nov;45(11):3200-3. doi: 10.1002/eji.201545646. Epub 2015 Oct 1. No abstract available.

13.

PDBe: Protein Data Bank in Europe.

Velankar S, Alhroub Y, Alili A, Best C, Boutselakis HC, Caboche S, Conroy MJ, Dana JM, van Ginkel G, Golovin A, Gore SP, Gutmanas A, Haslam P, Hirshberg M, John M, Lagerstedt I, Mir S, Newman LE, Oldfield TJ, Penkett CJ, Pineda-Castillo J, Rinaldi L, Sahni G, Sawka G, Sen S, Slowley R, Sousa da Silva AW, Suarez-Uruena A, Swaminathan GJ, Symmons MF, Vranken WF, Wainwright M, Kleywegt GJ.

Nucleic Acids Res. 2011 Jan;39(Database issue):D402-10. doi: 10.1093/nar/gkq985. Epub 2010 Nov 2.

14.

Straightforward and complete deposition of NMR data to the PDBe.

Penkett CJ, van Ginkel G, Velankar S, Swaminathan J, Ulrich EL, Mading S, Stevens TJ, Fogh RH, Gutmanas A, Kleywegt GJ, Henrick K, Vranken WF.

J Biomol NMR. 2010 Oct;48(2):85-92. doi: 10.1007/s10858-010-9439-3. Epub 2010 Aug 3.

15.

PDBe: Protein Data Bank in Europe.

Velankar S, Best C, Beuth B, Boutselakis CH, Cobley N, Sousa Da Silva AW, Dimitropoulos D, Golovin A, Hirshberg M, John M, Krissinel EB, Newman R, Oldfield T, Pajon A, Penkett CJ, Pineda-Castillo J, Sahni G, Sen S, Slowley R, Suarez-Uruena A, Swaminathan J, van Ginkel G, Vranken WF, Henrick K, Kleywegt GJ.

Nucleic Acids Res. 2010 Jan;38(Database issue):D308-17. doi: 10.1093/nar/gkp916. Epub 2009 Oct 25.

16.

The NMR restraints grid at BMRB for 5,266 protein and nucleic acid PDB entries.

Doreleijers JF, Vranken WF, Schulte C, Lin J, Wedell JR, Penkett CJ, Vuister GW, Vriend G, Markley JL, Ulrich EL.

J Biomol NMR. 2009 Dec;45(4):389-96. doi: 10.1007/s10858-009-9378-z. Epub 2009 Oct 7.

17.

Distinct transcriptional outputs associated with mono- and dimethylated histone H3 arginine 2.

Kirmizis A, Santos-Rosa H, Penkett CJ, Singer MA, Green RD, Kouzarides T.

Nat Struct Mol Biol. 2009 Apr;16(4):449-51. doi: 10.1038/nsmb.1569. Epub 2009 Mar 8.

18.

Navigating public microarray databases.

Penkett CJ, Bähler J.

Comp Funct Genomics. 2004;5(6-7):471-9. doi: 10.1002/cfg.427.

19.

Rapidly regulated genes are intron poor.

Jeffares DC, Penkett CJ, Bähler J.

Trends Genet. 2008 Aug;24(8):375-8. doi: 10.1016/j.tig.2008.05.006. Epub 2008 Jun 27. Erratum in: Trends Genet. 2008 Oct;24(10):488.

PMID:
18586348
20.

Dynamic repertoire of a eukaryotic transcriptome surveyed at single-nucleotide resolution.

Wilhelm BT, Marguerat S, Watt S, Schubert F, Wood V, Goodhead I, Penkett CJ, Rogers J, Bähler J.

Nature. 2008 Jun 26;453(7199):1239-43. doi: 10.1038/nature07002. Epub 2008 May 18.

PMID:
18488015
21.

Multiple pathways differentially regulate global oxidative stress responses in fission yeast.

Chen D, Wilkinson CR, Watt S, Penkett CJ, Toone WM, Jones N, Bähler J.

Mol Biol Cell. 2008 Jan;19(1):308-17. Epub 2007 Nov 14.

22.

Arginine methylation at histone H3R2 controls deposition of H3K4 trimethylation.

Kirmizis A, Santos-Rosa H, Penkett CJ, Singer MA, Vermeulen M, Mann M, Bähler J, Green RD, Kouzarides T.

Nature. 2007 Oct 18;449(7164):928-32. Epub 2007 Sep 26.

23.
24.

Genome-wide characterization of fission yeast DNA replication origins.

Heichinger C, Penkett CJ, Bähler J, Nurse P.

EMBO J. 2006 Nov 1;25(21):5171-9. Epub 2006 Oct 19.

25.

YOGY: a web-based, integrated database to retrieve protein orthologs and associated Gene Ontology terms.

Penkett CJ, Morris JA, Wood V, Bähler J.

Nucleic Acids Res. 2006 Jul 1;34(Web Server issue):W330-4.

26.

Impairment of the TFIIH-associated CDK-activating kinase selectively affects cell cycle-regulated gene expression in fission yeast.

Lee KM, Miklos I, Du H, Watt S, Szilagyi Z, Saiz JE, Madabhushi R, Penkett CJ, Sipiczki M, Bähler J, Fisher RP.

Mol Biol Cell. 2005 Jun;16(6):2734-45. Epub 2005 Apr 13.

27.

Periodic gene expression program of the fission yeast cell cycle.

Rustici G, Mata J, Kivinen K, Lió P, Penkett CJ, Burns G, Hayles J, Brazma A, Nurse P, Bähler J.

Nat Genet. 2004 Aug;36(8):809-17. Epub 2004 Jun 13.

PMID:
15195092
28.

Whole-genome microarrays of fission yeast: characteristics, accuracy, reproducibility, and processing of array data.

Lyne R, Burns G, Mata J, Penkett CJ, Rustici G, Chen D, Langford C, Vetrie D, Bähler J.

BMC Genomics. 2003 Jul 10;4(1):27.

29.
30.
31.

Structural and dynamical characterization of a biologically active unfolded fibronectin-binding protein from Staphylococcus aureus.

Penkett CJ, Redfield C, Jones JA, Dodd I, Hubbard J, Smith RA, Smith LJ, Dobson CM.

Biochemistry. 1998 Dec 1;37(48):17054-67.

PMID:
9836601
32.

NMR analysis of main-chain conformational preferences in an unfolded fibronectin-binding protein.

Penkett CJ, Redfield C, Dodd I, Hubbard J, McBay DL, Mossakowska DE, Smith RA, Dobson CM, Smith LJ.

J Mol Biol. 1997 Nov 28;274(2):152-9.

PMID:
9398523

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