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Items: 1 to 50 of 126

1.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Nov 1;128(11):5185. doi: 10.1172/JCI124649. Epub 2018 Nov 1. No abstract available.

2.

Comparing Upper Airway Stimulation to Transoral Robotic Base of Tongue Resection for Treatment of Obstructive Sleep Apnea.

Huntley C, Topf MC, Christopher V, Doghramji K, Curry J, Boon M.

Laryngoscope. 2018 Sep 12. doi: 10.1002/lary.27484. [Epub ahead of print]

PMID:
30208214
3.

Association of Positive Initial Margins With Survival Among Patients With Squamous Cell Carcinoma Treated With Total Laryngectomy.

Tassone P, Savard C, Topf MC, Keane W, Luginbuhl A, Curry J, Cognetti D.

JAMA Otolaryngol Head Neck Surg. 2018 Jul 26. doi: 10.1001/jamaoto.2018.1095. [Epub ahead of print]

PMID:
30054637
4.

Identification by virtual screening and functional characterisation of novel positive and negative allosteric modulators of the α7 nicotinic acetylcholine receptor.

Smelt CLC, Sanders VR, Newcombe J, Burt RP, Sheppard TD, Topf M, Millar NS.

Neuropharmacology. 2018 Sep 1;139:194-204. doi: 10.1016/j.neuropharm.2018.07.009. Epub 2018 Jul 20.

5.

AJCC-8ed nodal staging does not predict outcomes in surgically managed HPV-associated oropharyngeal cancer.

Hobelmann KC, Topf MC, Bar-Ad V, Luginbuhl AJ, Keane WM, Curry JM, Cognetti DM.

Oral Oncol. 2018 Jul;82:138-143. doi: 10.1016/j.oraloncology.2018.05.016. Epub 2018 May 28.

PMID:
29909888
6.

Modeling Protein Complexes Using Restraints from Crosslinking Mass Spectrometry.

Bullock JMA, Sen N, Thalassinos K, Topf M.

Structure. 2018 Jul 3;26(7):1015-1024.e2. doi: 10.1016/j.str.2018.04.016. Epub 2018 May 24.

7.

Jwalk and MNXL web server: model validation using restraints from crosslinking mass spectrometry.

Bullock JMA, Thalassinos K, Topf M.

Bioinformatics. 2018 Oct 15;34(20):3584-3585. doi: 10.1093/bioinformatics/bty366.

8.

TERT, HRAS, and EIF1AX Mutations in a Patient with Follicular Adenoma.

Topf MC, Wang ZX, Tuluc M, Pribitkin EA.

Thyroid. 2018 Jun;28(6):815-817. doi: 10.1089/thy.2017.0504. Epub 2018 May 18.

PMID:
29669480
9.

Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties.

Fedele L, Newcombe J, Topf M, Gibb A, Harvey RJ, Smart TG.

Nat Commun. 2018 Mar 6;9(1):957. doi: 10.1038/s41467-018-02927-4.

10.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Apr 2;128(4):1496-1508. doi: 10.1172/JCI98589. Epub 2018 Mar 12.

11.
12.

Unplanned readmission following transoral robotic surgery.

Topf MC, Vo A, Tassone P, Shumrick C, Luginbuhl A, Cognetti DM, Curry JM.

Oral Oncol. 2017 Dec;75:127-132. doi: 10.1016/j.oraloncology.2017.11.009. Epub 2017 Nov 11.

PMID:
29224809
13.

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.

McTague A, Nair U, Malhotra S, Meyer E, Trump N, Gazina EV, Papandreou A, Ngoh A, Ackermann S, Ambegaonkar G, Appleton R, Desurkar A, Eltze C, Kneen R, Kumar AV, Lascelles K, Montgomery T, Ramesh V, Samanta R, Scott RH, Tan J, Whitehouse W, Poduri A, Scheffer IE, Chong WKK, Cross JH, Topf M, Petrou S, Kurian MA.

Neurology. 2018 Jan 2;90(1):e55-e66. doi: 10.1212/WNL.0000000000004762. Epub 2017 Dec 1.

14.

Diversity of Nicotinic Acetylcholine Receptor Positive Allosteric Modulators Revealed by Mutagenesis and a Revised Structural Model.

Newcombe J, Chatzidaki A, Sheppard TD, Topf M, Millar NS.

Mol Pharmacol. 2018 Feb;93(2):128-140. doi: 10.1124/mol.117.110551. Epub 2017 Dec 1.

15.

First bite syndrome following transcervical arterial ligation after transoral robotic surgery.

Topf MC, Moritz E, Gleysteen J, Curry JM, Cognetti DM, Luginbuhl AJ.

Laryngoscope. 2018 Jul;128(7):1589-1593. doi: 10.1002/lary.27005. Epub 2017 Nov 20.

PMID:
29152739
16.

Structural basis of human kinesin-8 function and inhibition.

Locke J, Joseph AP, Peña A, Möckel MM, Mayer TU, Topf M, Moores CA.

Proc Natl Acad Sci U S A. 2017 Nov 7;114(45):E9539-E9548. doi: 10.1073/pnas.1712169114. Epub 2017 Oct 23.

17.

A structural model for microtubule minus-end recognition and protection by CAMSAP proteins.

Atherton J, Jiang K, Stangier MM, Luo Y, Hua S, Houben K, van Hooff JJE, Joseph AP, Scarabelli G, Grant BJ, Roberts AJ, Topf M, Steinmetz MO, Baldus M, Moores CA, Akhmanova A.

Nat Struct Mol Biol. 2017 Nov;24(11):931-943. doi: 10.1038/nsmb.3483. Epub 2017 Oct 9.

18.

EIF1AX Mutation in a Patient with Hürthle Cell Carcinoma.

Topf MC, Wang ZX, Furlong K, Miller JL, Tuluc M, Pribitkin EA.

Endocr Pathol. 2018 Mar;29(1):27-29. doi: 10.1007/s12022-017-9501-8.

PMID:
28965201
19.

The Role of Disulfide Bond Replacements in Analogues of the Tarantula Toxin ProTx-II and Their Effects on Inhibition of the Voltage-Gated Sodium Ion Channel Nav1.7.

Wright ZVF, McCarthy S, Dickman R, Reyes FE, Sanchez-Martinez S, Cryar A, Kilford I, Hall A, Takle AK, Topf M, Gonen T, Thalassinos K, Tabor AB.

J Am Chem Soc. 2017 Sep 20;139(37):13063-13075. doi: 10.1021/jacs.7b06506. Epub 2017 Sep 7.

20.

The divergent mitotic kinesin MKLP2 exhibits atypical structure and mechanochemistry.

Atherton J, Yu IM, Cook A, Muretta JM, Joseph A, Major J, Sourigues Y, Clause J, Topf M, Rosenfeld SS, Houdusse A, Moores CA.

Elife. 2017 Aug 11;6. pii: e27793. doi: 10.7554/eLife.27793.

21.

Structural pathway of regulated substrate transfer and threading through an Hsp100 disaggregase.

Deville C, Carroni M, Franke KB, Topf M, Bukau B, Mogk A, Saibil HR.

Sci Adv. 2017 Aug 4;3(8):e1701726. doi: 10.1126/sciadv.1701726. eCollection 2017 Aug.

22.

Integrative modelling of cellular assemblies.

Joseph AP, Polles G, Alber F, Topf M.

Curr Opin Struct Biol. 2017 Oct;46:102-109. doi: 10.1016/j.sbi.2017.07.001. Epub 2017 Jul 20. Review.

23.

Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease.

Schaefer N, Berger A, van Brederode J, Zheng F, Zhang Y, Leacock S, Littau L, Jablonka S, Malhotra S, Topf M, Winter F, Davydova D, Lynch JW, Paige CJ, Alzheimer C, Harvey RJ, Villmann C.

J Neurosci. 2017 Aug 16;37(33):7948-7961. doi: 10.1523/JNEUROSCI.0009-17.2017. Epub 2017 Jul 19.

24.

Macrophage type 2 differentiation in a patient with laryngeal squamous cell carcinoma and metastatic prostate adenocarcinoma to the cervical lymph nodes.

Topf MC, Tuluc M, Harshyne LA, Luginbuhl A.

J Immunother Cancer. 2017 Jul 18;5(1):60. doi: 10.1186/s40425-017-0264-z.

25.

Safety and efficacy of functional laryngectomy for end-stage dysphagia.

Topf MC, Magaña LC, Salmon K, Hamilton J, Keane WM, Luginbuhl A, Curry JM, Cognetti DM, Boon M, Spiegel JR.

Laryngoscope. 2018 Mar;128(3):597-602. doi: 10.1002/lary.26760. Epub 2017 Jul 17.

PMID:
28714539
26.

Improved metrics for comparing structures of macromolecular assemblies determined by 3D electron-microscopy.

Joseph AP, Lagerstedt I, Patwardhan A, Topf M, Winn M.

J Struct Biol. 2017 Jul;199(1):12-26. doi: 10.1016/j.jsb.2017.05.007. Epub 2017 May 25.

27.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. No abstract available.

PMID:
28546572
28.

In response to stomal maturation does not increase the rate of tracheocutaneous fistulas.

Levi JR, Topf MC, Mostovych NK, Yoo E, Barth P, Shah UK.

Laryngoscope. 2017 Sep;127(9):E331. doi: 10.1002/lary.26584. Epub 2017 Apr 20. No abstract available.

PMID:
28429497
29.

Geographic variation and within-individual correlations of physiological stress markers in a widespread reptile, the common garter snake (Thamnophis sirtalis).

Gangloff EJ, Sparkman AM, Holden KG, Corwin CJ, Topf M, Bronikowski AM.

Comp Biochem Physiol A Mol Integr Physiol. 2017 Mar;205:68-76. doi: 10.1016/j.cbpa.2016.12.019. Epub 2016 Dec 21.

PMID:
28011409
30.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Erratum in: Nat Genet. 2017 May 26;49(6):969.

PMID:
27992417
31.

Rate of tympanic membrane perforation after intratympanic steroid injection.

Topf MC, Hsu DW, Adams DR, Zhan T, Pelosi S, Willcox TO, McGettigan B, Fisher KW.

Am J Otolaryngol. 2017 Jan - Feb;38(1):21-25. doi: 10.1016/j.amjoto.2016.09.004. Epub 2016 Sep 28.

PMID:
27751619
32.

Correction: Allosteric signalling in the outer membrane translocation domain of PapC usher.

Farabella I, Pham T, Henderson NS, Geibel S, Phan G, Thanassi DG, Delcour AH, Waksman G, Topf M.

Elife. 2016 Sep 27;5. pii: e21585. doi: 10.7554/eLife.21585. No abstract available.

33.

Stomal maturation does not increase the rate of tracheocutaneous fistulas.

Levi JR, Topf MC, Mostovych NK, Yoo E, Barth PC, Shah UK.

Laryngoscope. 2016 Oct;126(10):2395-8. doi: 10.1002/lary.26225. Epub 2016 Aug 13.

PMID:
27519875
34.

HVint: A Strategy for Identifying Novel Protein-Protein Interactions in Herpes Simplex Virus Type 1.

Ashford P, Hernandez A, Greco TM, Buch A, Sodeik B, Cristea IM, Grünewald K, Shepherd A, Topf M.

Mol Cell Proteomics. 2016 Sep;15(9):2939-53. doi: 10.1074/mcp.M116.058552. Epub 2016 Jul 6.

35.

The Importance of Non-accessible Crosslinks and Solvent Accessible Surface Distance in Modeling Proteins with Restraints From Crosslinking Mass Spectrometry.

Matthew Allen Bullock J, Schwab J, Thalassinos K, Topf M.

Mol Cell Proteomics. 2016 Jul;15(7):2491-500. doi: 10.1074/mcp.M116.058560. Epub 2016 May 5.

36.

Two distinct trimeric conformations of natively membrane-anchored full-length herpes simplex virus 1 glycoprotein B.

Zeev-Ben-Mordehai T, Vasishtan D, Hernández Durán A, Vollmer B, White P, Prasad Pandurangan A, Siebert CA, Topf M, Grünewald K.

Proc Natl Acad Sci U S A. 2016 Apr 12;113(15):4176-81. doi: 10.1073/pnas.1523234113. Epub 2016 Mar 24.

37.

Refinement of atomic models in high resolution EM reconstructions using Flex-EM and local assessment.

Joseph AP, Malhotra S, Burnley T, Wood C, Clare DK, Winn M, Topf M.

Methods. 2016 May 1;100:42-9. doi: 10.1016/j.ymeth.2016.03.007. Epub 2016 Mar 14.

38.

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.

Kalscheuer VM, James VM, Himelright ML, Long P, Oegema R, Jensen C, Bienek M, Hu H, Haas SA, Topf M, Hoogeboom AJ, Harvey K, Walikonis R, Harvey RJ.

Front Mol Neurosci. 2016 Jan 11;8:85. doi: 10.3389/fnmol.2015.00085. eCollection 2015.

39.

γ-TEMPy: Simultaneous Fitting of Components in 3D-EM Maps of Their Assembly Using a Genetic Algorithm.

Pandurangan AP, Vasishtan D, Alber F, Topf M.

Structure. 2015 Dec 1;23(12):2365-2376. doi: 10.1016/j.str.2015.10.013. Epub 2015 Nov 19.

40.

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.

Pilorge M, Fassier C, Le Corronc H, Potey A, Bai J, De Gois S, Delaby E, Assouline B, Guinchat V, Devillard F, Delorme R, Nygren G, Råstam M, Meier JC, Otani S, Cheval H, James VM, Topf M, Dear TN, Gillberg C, Leboyer M, Giros B, Gautron S, Hazan J, Harvey RJ, Legendre P, Betancur C.

Mol Psychiatry. 2016 Jul;21(7):936-45. doi: 10.1038/mp.2015.139. Epub 2015 Sep 15.

41.

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.

Stödberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiöld S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA.

Nat Commun. 2015 Sep 3;6:8038. doi: 10.1038/ncomms9038.

42.

TEMPy: a Python library for assessment of three-dimensional electron microscopy density fits.

Farabella I, Vasishtan D, Joseph AP, Pandurangan AP, Sahota H, Topf M.

J Appl Crystallogr. 2015 Jun 27;48(Pt 4):1314-1323. eCollection 2015 Aug 1.

43.

Outcome of the First wwPDB Hybrid/Integrative Methods Task Force Workshop.

Sali A, Berman HM, Schwede T, Trewhella J, Kleywegt G, Burley SK, Markley J, Nakamura H, Adams P, Bonvin AM, Chiu W, Peraro MD, Di Maio F, Ferrin TE, Grünewald K, Gutmanas A, Henderson R, Hummer G, Iwasaki K, Johnson G, Lawson CL, Meiler J, Marti-Renom MA, Montelione GT, Nilges M, Nussinov R, Patwardhan A, Rappsilber J, Read RJ, Saibil H, Schröder GF, Schwieters CD, Seidel CA, Svergun D, Topf M, Ulrich EL, Velankar S, Westbrook JD.

Structure. 2015 Jul 7;23(7):1156-67. doi: 10.1016/j.str.2015.05.013. Epub 2015 Jun 18.

44.

Conformational changes during pore formation by the perforin-related protein pleurotolysin.

Lukoyanova N, Kondos SC, Farabella I, Law RH, Reboul CF, Caradoc-Davies TT, Spicer BA, Kleifeld O, Traore DA, Ekkel SM, Voskoboinik I, Trapani JA, Hatfaludi T, Oliver K, Hotze EM, Tweten RK, Whisstock JC, Topf M, Saibil HR, Dunstone MA.

PLoS Biol. 2015 Feb 5;13(2):e1002049. doi: 10.1371/journal.pbio.1002049. eCollection 2015 Feb.

45.

Collaborative computational project for electron cryo-microscopy.

Wood C, Burnley T, Patwardhan A, Scheres S, Topf M, Roseman A, Winn M.

Acta Crystallogr D Biol Crystallogr. 2015 Jan 1;71(Pt 1):123-6. doi: 10.1107/S1399004714018070. Epub 2015 Jan 1.

46.

Stepwise visualization of membrane pore formation by suilysin, a bacterial cholesterol-dependent cytolysin.

Leung C, Dudkina NV, Lukoyanova N, Hodel AW, Farabella I, Pandurangan AP, Jahan N, Pires Damaso M, Osmanović D, Reboul CF, Dunstone MA, Andrew PW, Lonnen R, Topf M, Saibil HR, Hoogenboom BW.

Elife. 2014 Dec 2;3:e04247. doi: 10.7554/eLife.04247. Erratum in: Elife. 2014;4:e06740.

47.

Allosteric signalling in the outer membrane translocation domain of PapC usher.

Farabella I, Pham T, Henderson NS, Geibel S, Phan G, Thanassi DG, Delcour AH, Waksman G, Topf M.

Elife. 2014 Oct 28;3. doi: 10.7554/eLife.03532. Erratum in: Elife. 2016;5. pii: e21585. doi: 10.7554/eLife.21585.

48.

Conserved mechanisms of microtubule-stimulated ADP release, ATP binding, and force generation in transport kinesins.

Atherton J, Farabella I, Yu IM, Rosenfeld SS, Houdusse A, Topf M, Moores CA.

Elife. 2014 Sep 10;3:e03680. doi: 10.7554/eLife.03680.

49.

Photo-antagonism of the GABAA receptor.

Mortensen M, Iqbal F, Pandurangan AP, Hannan S, Huckvale R, Topf M, Baker JR, Smart TG.

Nat Commun. 2014 Jul 29;5:4454. doi: 10.1038/ncomms5454.

50.

Ambient fine particulate air pollution triggers ST-elevation myocardial infarction, but not non-ST elevation myocardial infarction: a case-crossover study.

Gardner B, Ling F, Hopke PK, Frampton MW, Utell MJ, Zareba W, Cameron SJ, Chalupa D, Kane C, Kulandhaisamy S, Topf MC, Rich DQ.

Part Fibre Toxicol. 2014 Jan 2;11:1. doi: 10.1186/1743-8977-11-1.

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