Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Richard Caswell"'
Autor:
Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Vittoria C Rossi, Ava S Berrier, Anika Lindsey, Jacob Lesinski, Michael L Nonet, Jian Chen, Dustin Baldridge, Gary A Silverman, V Reid Sutton, Jill A Rosenfeld, Alyssa A Tran, M John Hicks, David R Murdock, Hongzheng Dai, MaryAnn Weis, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Richard Caswell, Carrie Pottinger, Deirdre Cilliers, Karen Stals, Undiagnosed Diseases Network, David Eyre, Deborah Krakow, Tim Schedl, Stephen C Pak, Brendan H Lee
Publikováno v:
PLoS Genetics, Vol 19, Iss 11, p e1011005 (2023)
BackgroundKinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo
Externí odkaz:
https://doaj.org/article/d6d02fb43ddb4cad86147275323bfe06
Autor:
Indraneel Banerjee, Senthil Senniappan, Thomas W. Laver, Richard Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N. Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Pratik Shah, Zeynep Siklar, Charles F. Verge, Michael N. Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Publikováno v:
Wellcome Open Research, Vol 4 (2020)
Background: Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome. A range of clinical features can result from these deletions with the most com
Externí odkaz:
https://doaj.org/article/d2f10b46905b437e918ce37dd11757b4
Autor:
Matthew Devall, Joe Burrage, Richard Caswell, Matthew Johnson, Claire Troakes, Safa Al-Sarraj, Aaron R Jeffries, Jonathan Mill, Katie Lunnon
Publikováno v:
BioTechniques, Vol 59, Iss 4, Pp 241-246 (2015)
Given that many brain disorders are characterized by mitochondrial dysfunction, there is a growing interest in investigating genetic and epigenetic variation in mitochondrial DNA (mtDNA). One major caveat for such studies is the presence of nuclear-m
Externí odkaz:
https://doaj.org/article/db2d141b423a44a585d81507be83d570
Autor:
Silvia Beatriz Sanchez Marco, Edgar Buhl, Rose Firth, Bangfu Zhu, Mary Gainsborough, Ana Beleza‐Meireles, Sandra Moore, Richard Caswell, Karen Stals, Sian Ellard, Cameron Kennedy, James J. L. Hodge, Anirban Majumdar
Publikováno v:
Clinical Genetics. 102:494-502
Cerebral palsy (CP) causes neurological disability in early childhood. Hypoxic-ischaemic injury plays a major role in its aetiology, nevertheless, genetic and epigenetic factors may contribute to the clinical presentation. Mutations in ADD3 (encoding
Autor:
Maya Chopra, Richard Caswell, Giulia Barcia, Sophie Rondeau, Laurence Jonard, Patrick Nitchké, Daniel Amram, Marc-Lionel Bellaiche, Veronique Abadie, Marine Parodi, Francoise Denoyelle, Andrew Hattersley, Christine Bole, Stanislas Lyonnet, Sandrine Marlin
Publikováno v:
European Journal of Human Genetics. 30:960-966
DNA polymerase δ is one of the three main enzymes responsible for DNA replication. POLD1 heterozygous missense variants in the exonuclease domain result in a cancer predisposition phenotype. In contrast, heterozygous variants in POLD1 polymerase dom
Autor:
Johannes Birtel, Christina von Landenberg, Martin Gliem, Carla Gliem, Jens Reimann, Wolfram S. Kunz, Philipp Herrmann, Christian Betz, Richard Caswell, Victoria Nesbitt, Cornelia Kornblum, Peter Charbel Issa
Publikováno v:
Ophthalmology Retina. 6:65-79
To report the retinal phenotype and the associated genetic and systemic findings in patients with mitochondrial disease.Retrospective case series.Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external
Autor:
Hannah K. Robinson, Harsha Gowda, Richard Caswell, Amaka C. Offiah, Swati Naik, Helen McDermott
Publikováno v:
American Journal of Medical Genetics Part A. 188:298-303
An extremely preterm infant presented with clinical and radiological features of Robinow syndrome including butterfly vertebrae, posterior rib fusion, brachydactyly, nail hypoplasia, and retromicrognathia resulting in difficult endotracheal intubatio
Autor:
Athina, Ververi, Sara, Zagaglia, Lara, Menzies, Julia, Baptista, Richard, Caswell, Stephanie, Baulac, Sian, Ellard, Sally, Lynch, Genomics England Research, Consortium, Thomas S, Jacques, Maninder Singh, Chawla, Martin, Heier, Mari Ann, Kulseth, Inger-Lise, Mero, Anne Katrine, Våtevik, Ichraf, Kraoua, Hanene Ben, Rhouma, Thouraya Ben, Younes, Zouhour, Miladi, Ilhem Ben Youssef, Turki, Wendy D, Jones, Emma, Clement, Christin, Eltze, Kshitij, Mankad, Ashirwad, Merve, Jennifer, Parker, Bethan, Hoskins, Ronit, Pressler, Sniya, Sudhakar, Catherine, DeVile, Tessa, Homfray, Marios, Kaliakatsos, Prab Prabhakar, Ponnudas, Robert, Robinson, Sara Margrete Bøen, Keim, Imen, Habibi, Alexandre, Reymond, Sanjay M, Sisodiya, Jane A, Hurst
Publikováno v:
Human molecular genetics.
DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target of rapamycin (mTOR) pathway and is commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association with focal cortica
Autor:
Lauren Brady, Bryan E. Hainline, Konrad Platzer, Muhammad Zafar, Corinna Powell, Darcy J. Huismann, Heather C Mefford, Afnan Alhakeem, Daniel G. MacArthur, Alison M. Muir, Trevor L Hoffman, Mark A. Tarnopolsky, François Lecoquierre, Lindsay Rhodes, Tilman Polster, Susanne Axer-Schaefer, Alice Goldenberg, Katherine Sapp, Caoimhe S. McKenna, Jasper J. van der Smagt, Tara Montgomery, Eleina M. England, Brianna K. Murray, Myriam Srour, Lia Zitano, William B. Dobyns, Grace Noh, Angela F. Brady, Lindsey Sawyer, Ingrid M. Wentzensen, Holly Dubbs, Jane Juusola, Richard Caswell, Richard H. van Jaarsveld, Danielle DeMarzo, Samantha A. Schrier Vergano, Caleb Bupp, Grace E. VanNoy, Jose E. Martinez, Melanie O’Leary, Iris M de Lange, Shane McKee, Golder N. Wilson, Rhonda E. Schnur, Meira Meltzer, Vinod Varghese, Kristin G. Monaghan, Carole Brewer, Carolyn Tysoe, Jennifer F. Gardner, Ethan M. Goldberg, Shelagh Joss, Andrea Accogli, Chiara Klöckner, Andrea L. Gropman, Pradeep C. Vasudevan
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molec
Autor:
Thomas W Laver, Jayne A L Houghton, Bridget A. Knight, Ali J. Chakera, Sian Ellard, Richard Caswell, Tristan Snowsill, Andrew T. Hattersley, Maggie Shepherd, David Wright
Publikováno v:
Clinical chemistry
Background Babies of women with heterozygous pathogenic glucokinase (GCK) variants causing mild fasting hyperglycemia are at risk of macrosomia if they do not inherit the variant. Conversely, babies who inherit a pathogenic hepatocyte nuclear factor