Publications by authors named "Agnel P Joseph"

10Publications

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

Authors:
Miryam Carecchio Federica Invernizzi Paulina Gonzàlez-Latapi Celeste Panteghini Giovanna Zorzi Luigi Romito Vincenzo Leuzzi Serena Galosi Chiara Reale Federica Zibordi Agnel P Joseph Maya Topf Carla Piano Anna Rita Bentivoglio Floriano Girotti Paolo Morana Benedetto Morana Manju A Kurian Barbara Garavaglia Niccolò E Mencacci Steven J Lubbe Nardo Nardocci

Mov Disord 2019 10 19;34(10):1516-1527. Epub 2019 Jun 19.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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October 2019

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

Authors:
Lara Al-Olabi Satyamaanasa Polubothu Katherine Dowsett Katrina A Andrews Paulina Stadnik Agnel P Joseph Rachel Knox Alan Pittman Graeme Clark William Baird Neil Bulstrode Mary Glover Kristiana Gordon Darren Hargrave Susan M Huson Thomas S Jacques Gregory James Hannah Kondolf Loshan Kangesu Kim M Keppler-Noreuil Amjad Khan Marjorie J Lindhurst Mark Lipson Sahar Mansour Justine O'Hara Caroline Mahon Anda Mosica Celia Moss Aditi Murthy Juling Ong Victoria E Parker Jean-Baptiste Rivière Julie C Sapp Neil J Sebire Rahul Shah Branavan Sivakumar Anna Thomas Alex Virasami Regula Waelchli Zhiqiang Zeng Leslie G Biesecker Alex Barnacle Maya Topf Robert K Semple E Elizabeth Patton Veronica A Kinsler

J Clin Invest 2018 11 1;128(11):5185. Epub 2018 Nov 1.

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November 2018

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

Authors:
Lara Al-Olabi Satyamaanasa Polubothu Katherine Dowsett Katrina A Andrews Paulina Stadnik Agnel P Joseph Rachel Knox Alan Pittman Graeme Clark William Baird Neil Bulstrode Mary Glover Kristiana Gordon Darren Hargrave Susan M Huson Thomas S Jacques Gregory James Hannah Kondolf Loshan Kangesu Kim M Keppler-Noreuil Amjad Khan Marjorie J Lindhurst Mark Lipson Sahar Mansour Justine O'Hara Caroline Mahon Anda Mosica Celia Moss Aditi Murthy Juling Ong Victoria E Parker Jean-Baptiste Rivière Julie C Sapp Neil J Sebire Rahul Shah Branavan Sivakumar Anna Thomas Alex Virasami Regula Waelchli Zhiqiang Zeng Leslie G Biesecker Alex Barnacle Maya Topf Robert K Semple E Elizabeth Patton Veronica A Kinsler

J Clin Invest 2018 04 12;128(4):1496-1508. Epub 2018 Mar 12.

Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.

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April 2018

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

Authors:
Esther Meyer Keren J Carss Julia Rankin John M E Nichols Detelina Grozeva Agnel P Joseph Niccolo E Mencacci Apostolos Papandreou Joanne Ng Serena Barral Adeline Ngoh Hilla Ben-Pazi Michel A Willemsen David Arkadir Angela Barnicoat Hagai Bergman Sanjay Bhate Amber Boys Niklas Darin Nicola Foulds Nicholas Gutowski Alison Hills Henry Houlden Jane A Hurst Zvi Israel Margaret Kaminska Patricia Limousin Daniel Lumsden Shane McKee Shibalik Misra Shekeeb S Mohammed Vasiliki Nakou Joost Nicolai Magnus Nilsson Hardev Pall Kathryn J Peall Gregory B Peters Prab Prabhakar Miriam S Reuter Patrick Rump Reeval Segel Margje Sinnema Martin Smith Peter Turnpenny Susan M White Dagmar Wieczorek Sarah Wiethoff Brian T Wilson Gidon Winter Christopher Wragg Simon Pope Simon J H Heales Deborah Morrogh Alan Pittman Lucinda J Carr Belen Perez-Dueñas Jean-Pierre Lin Andre Reis William A Gahl Camilo Toro Kailash P Bhatia Nicholas W Wood Erik-Jan Kamsteeg Wui K Chong Paul Gissen Maya Topf Russell C Dale Jonathan R Chubb F Lucy Raymond Manju A Kurian

Nat Genet 2017 05;49(6):969

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May 2017

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

Authors:
Esther Meyer Keren J Carss Julia Rankin John M E Nichols Detelina Grozeva Agnel P Joseph Niccolo E Mencacci Apostolos Papandreou Joanne Ng Serena Barral Adeline Ngoh Hilla Ben-Pazi Michel A Willemsen David Arkadir Angela Barnicoat Hagai Bergman Sanjay Bhate Amber Boys Niklas Darin Nicola Foulds Nicholas Gutowski Alison Hills Henry Houlden Jane A Hurst Zvi Israel Margaret Kaminska Patricia Limousin Daniel Lumsden Shane McKee Shibalik Misra Shekeeb S Mohammed Vasiliki Nakou Joost Nicolai Magnus Nilsson Hardev Pall Kathryn J Peall Gregory B Peters Prab Prabhakar Miriam S Reuter Patrick Rump Reeval Segel Margje Sinnema Martin Smith Peter Turnpenny Susan M White Dagmar Wieczorek Sarah Wiethoff Brian T Wilson Gidon Winter Christopher Wragg Simon Pope Simon J H Heales Deborah Morrogh Alan Pittman Lucinda J Carr Belen Perez-Dueñas Jean-Pierre Lin Andre Reis William A Gahl Camilo Toro Kailash P Bhatia Nicholas W Wood Erik-Jan Kamsteeg Wui K Chong Paul Gissen Maya Topf Russell C Dale Jonathan R Chubb F Lucy Raymond Manju A Kurian

Nat Genet 2017 Feb 19;49(2):223-237. Epub 2016 Dec 19.

Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.

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February 2017

Use of evolutionary information in the fitting of atomic level protein models in low resolution cryo-EM map of a protein assembly improves the accuracy of the fitting.

Authors:
Agnel P Joseph Lakshmipuram S Swapna Ramachandran Rakesh Narayanaswamy Srinivasan

J Struct Biol 2016 09 19;195(3):294-305. Epub 2016 Jul 19.

Molecular Biophysics Unit, Indian Institute of Science, Bangalore 560012, India. Electronic address:

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September 2016

Genome sequencing of herb Tulsi (Ocimum tenuiflorum) unravels key genes behind its strong medicinal properties.

Authors:
Atul K Upadhyay Anita R Chacko A Gandhimathi Pritha Ghosh K Harini Agnel P Joseph Adwait G Joshi Snehal D Karpe Swati Kaushik Nagesh Kuravadi Chandana S Lingu J Mahita Ramya Malarini Sony Malhotra Manoharan Malini Oommen K Mathew Eshita Mutt Mahantesha Naika Sathyanarayanan Nitish Shaik Naseer Pasha Upadhyayula S Raghavender Anantharamanan Rajamani S Shilpa Prashant N Shingate Heikham Russiachand Singh Anshul Sukhwal Margaret S Sunitha Manojkumar Sumathi S Ramaswamy Malali Gowda Ramanathan Sowdhamini

BMC Plant Biol 2015 Aug 28;15:212. Epub 2015 Aug 28.

National Centre for Biological Sciences (TIFR), GKVK Campus, Bellary Road, 560 065, Bangalore, India.

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August 2015

Protein flexibility in the light of structural alphabets.

Authors:
Pierrick Craveur Agnel P Joseph Jeremy Esque Tarun J Narwani Floriane Noël Nicolas Shinada Matthieu Goguet Sylvain Leonard Pierre Poulain Olivier Bertrand Guilhem Faure Joseph Rebehmed Amine Ghozlane Lakshmipuram S Swapna Ramachandra M Bhaskara Jonathan Barnoud Stéphane Téletchéa Vincent Jallu Jiri Cerny Bohdan Schneider Catherine Etchebest Narayanaswamy Srinivasan Jean-Christophe Gelly Alexandre G de Brevern

Front Mol Biosci 2015 27;2:20. Epub 2015 May 27.

Institut National de la Santé et de la Recherche Médicale U 1134 Paris, France ; UMR_S 1134, DSIMB, Université Paris Diderot, Sorbonne Paris Cite Paris, France ; Institut National de la Transfusion Sanguine, DSIMB Paris, France ; UMR_S 1134, DSIMB, Laboratory of Excellence GR-Ex Paris, France.

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June 2015

3PFDB+: improved search protocol and update for the identification of representatives of protein sequence domain families.

Authors:
Agnel P Joseph Prashant Shingate Atul K Upadhyay R Sowdhamini

Database (Oxford) 2014 3;2014:bau026. Epub 2014 Apr 3.

National Centre for Biological Sciences (TIFR), GKVK Campus, Bellary Road, Bangalore 560065, Karnataka, India.

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August 2014

Inhibition of the interaction between NS3 protease and HCV IRES with a small peptide: a novel therapeutic strategy.

Authors:
Upasana Ray Chaitrali L Roy Anuj Kumar Prashant Mani Agnel P Joseph G Sudha Debi P Sarkar N Srinivasan Saumitra Das

Mol Ther 2013 Jan 21;21(1):57-67. Epub 2012 Aug 21.

Department of Microbiology and Cell Biology, Indian Institute of Science, Bangalore, India.

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January 2013