Resultats de la cerca - Gavin Chapman
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Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease per Morgan Newman, Lachlan Wilson, Giuseppe Verdile, Anne Lim, Imran Khan, Seyyed Hani Moussavi Nik, Sharon E. Pursglove, Gavin Chapman, Ralph N. Martins, Michael Lardelli
Publicat 2013Artigo -
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Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo per Insa Geffers, Katrin Serth, Gavin Chapman, Robert Jaekel, Karin Schuster-Gossler, Ralf Cordes, Duncan B. Sparrow, Elisabeth Kremmer, Sally L. Dunwoodie, Thomas Klein, Achim Gossler
Publicat 2007Artigo -
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Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype per Duncan B. Sparrow, Gavin Chapman, Merridee A. Wouters, Neil V. Whittock, Sian Ellard, Diane Fatkin, Peter D. Turnpenny, Kenro Kusumi, Daniel J. Sillence, Sally L. Dunwoodie
Publicat 2005Artigo -
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Loss of Cited2 causes congenital heart disease by perturbing left–right patterning of the body axis per Kylie Lopes Floro, Stanley T Artap, Jost I. Preis, Diane Fatkin, Gavin Chapman, Milena B. Furtado, Richard P. Harvey, Hiroshi Hamada, Duncan B. Sparrow, Sally L. Dunwoodie
Publicat 2010Artigo -
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Gestational stress induces the unfolded protein response, resulting in heart defects per Hongjun Shi, Victoria C. O׳Reilly, Julie Moreau, Therese R. Bewes, Michelle Yam, Bogdan E. Chapman, Stuart M. Grieve, Roland Stocker, Robert M. Graham, Gavin Chapman, Duncan B. Sparrow, Sally L. Dunwoodie
Publicat 2016Artigo -
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A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis per Duncan B. Sparrow, Gavin Chapman, Allanceson Smith, Muhammad Z. Mattar, Joelene Major, Victoria C. O׳Reilly, Yumiko Saga, Elaine H. Zackai, John P. Dormans, Benjamin A. Alman, Lesley McGregor, Ryoichiro Kageyama, Kenro Kusumi, Sally L. Dunwoodie
Publicat 2012Artigo -
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Gene-environment interaction impacts on heart development and embryo survival per Julie Moreau, Scott Kesteven, Ella MMA Martin, Kin S. Lau, Michelle Yam, Victoria C. O׳Reilly, Gonzalo del Monte‐Nieto, Antonio Baldini, Michael P. Feneley, Anne Moon, Richard P. Harvey, Duncan B. Sparrow, Gavin Chapman, Sally L. Dunwoodie
Publicat 2019Artigo -
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Novel role for endogenous mitochondrial formylated peptide-driven formyl peptide receptor 1 signalling in acute respiratory distress syndrome per David A. Dorward, Christopher D. Lucas, Mary K. Doherty, Gavin Chapman, Emma Scholefield, Andrew Conway Morris, Jennifer M. Felton, Tiina Kipari, Duncan C. Humphries, Calum T. Robb, A. John Simpson, Phillip D. Whitfield, Christopher Haslett, Kevin Dhaliwal, Adriano G. Rossi
Publicat 2017Artigo -
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Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders per Justin O. Szot, Carla Campagnolo, Ye Cao, Kavitha R. Iyer, Hartmut Cuny, Thomas A. Drysdale, Josue Flores-Daboub, Weimin Bi, Lauren Westerfield, Pengfei Liu, Tse Ngong Leung, Kwong Wai Choy, Gavin Chapman, Rui Xiao, Victoria Mok Siu, Sally L. Dunwoodie
Publicat 2019Artigo -
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NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets per Romaric Bouveret, Ashley J. Waardenberg, Nicole Schönrock, Mirana Ramialison, Tram B. Doan, Daniëlle de Jong, Antoine Bondue, Gurpreet Kaur, Stephanie Mohamed, Hananeh Fonoudi, C.M. Chen, Merridee A. Wouters, Shoumo Bhattacharya, Nicolas Plachta, Sally L. Dunwoodie, Gavin Chapman, Cédric Blanpain, Richard P. Harvey
Publicat 2015Artigo -
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A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data per Justin O. Szot, Hartmut Cuny, Gillian M. Blue, David T. Humphreys, Eddie Ip, Katrina Harrison, Gary F. Sholler, Eleni Giannoulatou, Paul Leo, Emma L. Duncan, Duncan B. Sparrow, Joshua W. K. Ho, Robert M. Graham, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Sally L. Dunwoodie
Publicat 2018Artigo -
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Identification of clinically actionable variants from genome sequencing of families with congenital heart disease per Dimuthu Alankarage, Eddie Ip, Justin O. Szot, Jacob E. Munro, Gillian M. Blue, Katrina Harrison, Hartmut Cuny, Annabelle Enriquez, Michael Troup, David T. Humphreys, Meredith Wilson, Richard P. Harvey, Gary F. Sholler, Robert M. Graham, Joshua W. K. Ho, Edwin P. Kirk, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Eleni Giannoulatou, Sally L. Dunwoodie
Publicat 2018Artigo -
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Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants per Gavin Chapman, Julie Moreau, I P Eddie, Justin O. Szot, Kavitha R. Iyer, Hongjun Shi, Michelle Yam, Victoria C. O׳Reilly, Annabelle Enriquez, Joelene A Greasby, Dimuthu Alankarage, Ella MMA Martin, Bernadette Hanna, Matthew Edwards, Steven Monger, Gillian M. Blue, David S. Winlaw, Helen E. Ritchie, Stuart M. Grieve, Eleni Giannoulatou, Duncan B. Sparrow, Sally L. Dunwoodie
Publicat 2019Artigo
Eines de cerca:
Matèries relacionades
Biology
Gene
Genetics
Cell biology
Phenotype
Medicine
Embryonic stem cell
Signal transduction
Internal medicine
Notch signaling pathway
Biochemistry
Disease
Mesoderm
Bioinformatics
Embryo
Mutation
Chemistry
Embryogenesis
Heart disease
Mutant
Notch proteins
Receptor
Anatomy
Enzyme
Epistemology
Heart development
Hypoxia (environmental)
Mechanism (biology)
Missense mutation
NAD+ kinase