Zobrazeno 41 - 50
of 209
pro vyhledávání: '"Paul J. Lockhart"'
Publikováno v:
Journal of Molecular Medicine (Berlin, Germany)
p38 mitogen-activated protein kinases (P38α and β) and c-Jun N-terminal kinases (JNK1, 2, and 3) are key mediators of the cellular stress response. However, prolonged P38 and JNK signalling is associated with damaging inflammatory responses, reacti
Autor:
Marjon van Slegtenhorst, Dean Phelan, Jan D. H. Jongbloed, Christine E. Seidman, Johanna C. Herkert, Francisco Fernández-Avilés, Chloe A Stutterd, Amy E. Roberts, Radhika Agarwal, Paul J. Lockhart, Mary Ella M Pierpont, Ingrid M.B.H. van de Laar, Irene M. van Langen, Ludolf G. Boven, Yolande van Bever, Raquel Yotti, Michael A. Burke, Jonathan G. Seidman, Paul A. James, Judith M.A. Verhagen, Kai'En E. Leong, David J. Amor, Elizabeth A. Braunlin, Ahmet Okay Ḉağlayan, Alireza Haghighi, Neal K. Lakdawala, Lennie van Osch-Gevers, Marian Bulthuis, Ivan Macciocca, Daniela Q.C.M. Barge-Schaapveld, Natasha J Brown, Erwin Birnie
Publikováno v:
American Heart Journal, 225, 108-119. MOSBY-ELSEVIER
American Heart Journal, 225, 108-119. Mosby Inc.
American Heart Journal, 225, 108-119. Mosby Inc.
Introduction: Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined. Methods and Results: We analyzed clinical manifestations of damaging bialleli
Autor:
Greta Gillies, Keri Finlay, Hayley S. Mountford, Peter Hickey, Ingrid E. Scheffer, Vesna Lukic, Bradley P. Coe, Kiymet Bozaoglu, Melanie Bahlo, Haloom Rafehi, Audrey Rattray, Paul J. Lockhart, Natasha J Brown, Dana Alhuzaimi, Tanya Vick, Miriam Fanjul-Fernández, Cherie C Green, Sarah J. Wilson, Martin B. Delatycki, Savannah Young, Evan E. Eichler, Peter Diakumis
Publikováno v:
Hum Mutat
Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1061e3918e4b875e007635c67e625a48
https://europepmc.org/articles/PMC8720068/
https://europepmc.org/articles/PMC8720068/
Autor:
Paul J. Lockhart, David J. Amor, Vesna Lukic, Paul J Gow, Miriam Fanjul, Martin B. Delatycki, Edward D Janus, Alexa Kidd, Teddy Y. Wu, Melanie Bahlo, John S. Archer, Chloe A Stutterd, Marjo S van der Knaap, Anthony Raizis, Christopher M. Florkowski, Richard J. Leventer
Publikováno v:
Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics, Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
American Journal of Medical Genetics, Part A, 185(10), 2941-2950. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 185(10), 2941-2950. Wiley-Liss Inc.
Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics, Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
American Journal of Medical Genetics, Part A, 185(10), 2941-2950. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 185(10), 2941-2950. Wiley-Liss Inc.
Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP). Biallelic variants in HMBS have been reported in a small number of ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495c164921dd63aeb844a7ac497a18be
https://research.vumc.nl/en/publications/c09a30e4-495f-470f-a6a6-a719bda15903
https://research.vumc.nl/en/publications/c09a30e4-495f-470f-a6a6-a719bda15903
Autor:
Jacqueline M. Ogier, Yujing Gao, Eileen M. Dunne, Michael A. Wilson, Sarath C. Ranganathan, Gregory H. Tesch, David J. Nikolic Paterson, Alain Dabdoub, Rachel A. Burt, Bryony A. Nayagam, Paul J. Lockhart
Publikováno v:
Journal of molecular medicine (Berlin, Germany). 100(5)
Abstract Aminoglycoside antibiotics are lifesaving medicines, crucial for the treatment of chronic or drug resistant infections. However, aminoglycosides are toxic to the sensory hair cells in the inner ear. As a result, aminoglycoside-treated indivi
Publikováno v:
Neurology Genetics. 8:e200016
In 2019, a biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). In addition, biallelic expansion
Autor:
Paul J. Lockhart, Alain Chédotal, Samreen Shaikh, Thomas Fothergill, Yvrick Zagar, Peter Kozulin, Richard J. Leventer, Laura R. Fenlon, Rodrigo Suárez, Helen M. Cooper, Yunan Ye, Laura Morcom, Caitlin Bridges, Ilan Gobius, Elliott H. Sherr, Linda J. Richards, Timothy J. Edwards, Amber Lee Skye Donahoo, Amelia M. Douglass, Ashley P L Marsh, Jonathan W. C. Lim
Publikováno v:
eLife
eLife, eLife Sciences Publication, 2021, 10, ⟨10.7554/eLife.61769⟩
eLife, Vol 10 (2021)
eLife, 2021, 10, ⟨10.7554/eLife.61769⟩
eLife, eLife Sciences Publication, 2021, 10, ⟨10.7554/eLife.61769⟩
eLife, Vol 10 (2021)
eLife, 2021, 10, ⟨10.7554/eLife.61769⟩
The forebrain hemispheres are predominantly separated during embryogenesis by the interhemispheric fissure (IHF). Radial astroglia remodel the IHF to form a continuous substrate between the hemispheres for midline crossing of the corpus callosum (CC)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db50d09bfd8308834a2926a3dc39b6ed
https://hal.sorbonne-universite.fr/hal-03204007
https://hal.sorbonne-universite.fr/hal-03204007
Autor:
Elliott H. Sherr, Yvrick Zagar, Ilan Gobius, Ashley P L Marsh, Peter Kozulin, Alain Chédotal, Amelia M. Douglass, Samreen Shaikh, Thomas Fothergill, Laura R. Fenlon, Amber-Lee S. Donahoo, Jonathan W. C. Lim, Laura Morcom, Linda J. Richards, Richard J. Leventer, Rodrigo Suárez, Helen M. Cooper, Yunan Ye, Caitlin Bridges, Paul J. Lockhart, Timothy J. Edwards
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe0472363cf82f76b46255b5582b29b6
https://doi.org/10.7554/elife.61769.sa2
https://doi.org/10.7554/elife.61769.sa2
Autor:
Kristin D. Kernohan, Sara Ellingwood, Jaime Barea, Christoffer Nellåker, Simon Sadedin, Katrin Õunap, Taila Hartley, Margarete Koch-Hogrebe, Marjan M. Nezarati, Augusta M. A. Lachmeijer, Dagmar Wieczorek, Elizabeth J. Bhoj, Paul J. Lockhart, Kym M. Boycott, Aren E Marshall, Tiong Yang Tan, Sander Pajusalu, Arran McBride, John Christodoulou, Michelle E. Ernst, Alison S May, Rami Abou Jamra, Susan M. White, Dong Li, K.L.I. van Gassen, Wendy E. Smith
Publikováno v:
Am J Hum Genet
The DNA damage-binding protein 1 (DDB1) is part of the CUL4-DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction. Loss-of-function variants in genes encoding the co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ab5c5b8f69c8ad3cfea21fe152f5f9
https://europepmc.org/articles/PMC8059373/
https://europepmc.org/articles/PMC8059373/
Autor:
Sarah E.M. Stephenson, Greta Gillies, Kate Pope, Simone Mandelstam, AS Harvey, Paul J. Lockhart, Alison Wray, Katherine B. Howell, Wei Shern Lee, Samuel F. Berkovic, William Maixner, Ingrid E. Scheffer, Richard J. Leventer, Duncan MacGregor
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1338-1344 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. How germline variants cause these focal lesions is unclear, however a germline + somatic “2‐hit” model is hypothes