Publications by authors named "Dagan Jenkins"

26Publications

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Generating Mutant Renal Cell Lines Using CRISPR Technologies.

Methods Mol Biol 2020 ;2067:323-340

Genetics and Genomic Medicine Programmes, Great Ormond Street Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1007/978-1-4939-9841-8_20DOI Listing
January 2020

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

PLoS Genet 2017 03 16;13(3):e1006679. Epub 2017 Mar 16.

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1006679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373641PMC
March 2017

Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.

Arch Dis Child 2016 09 11;101(9):843-6. Epub 2016 Feb 11.

Regional Paediatric Burns and Plastic Surgery Service, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.

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http://dx.doi.org/10.1136/archdischild-2015-310043DOI Listing
September 2016

Putative roles of cilia in polycystic kidney disease.

Biochim Biophys Acta 2011 Oct 8;1812(10):1256-62. Epub 2011 May 8.

UCL Institute of Child Health, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.bbadis.2011.04.012DOI Listing
October 2011

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Hum Mutat 2011 Apr 8;32(4):E2069-78. Epub 2011 Feb 8.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/humu.21457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429868PMC
April 2011

Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction.

Nephrol Dial Transplant 2010 Jan 10;25(1):54-60. Epub 2009 Sep 10.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1093/ndt/gfp453DOI Listing
January 2010

Hedgehog signalling: emerging evidence for non-canonical pathways.

Authors:
Dagan Jenkins

Cell Signal 2009 Jul;21(7):1023-34

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1016/j.cellsig.2009.01.033DOI Listing
July 2009

Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4.

Development 2008 Oct;135(19):3301-10

Institut de Biologie du Développement de Marseille-Luminy (IBDML), UMR6216, CNRS, Université de la Méditerranée, Marseille, France.

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http://dx.doi.org/10.1242/dev.022442DOI Listing
October 2008

Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development.

J Anat 2007 Nov 11;211(5):620-9. Epub 2007 Sep 11.

Nephro-Urology, and Clinical and Molecular Genetics Units, UCL Institute of Child Health, UK.

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http://dx.doi.org/10.1111/j.1469-7580.2007.00808.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375778PMC
November 2007

De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.

J Am Soc Nephrol 2005 Jul 11;16(7):2141-9. Epub 2005 May 11.

Nephro-Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1E 1EH, UK.

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http://dx.doi.org/10.1681/ASN.2004090776DOI Listing
July 2005