Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Dimitar N, Azmanov"'
Autor:
Raman Kumar, Elizabeth Palmer, Alison E. Gardner, Renee Carroll, Siddharth Banka, Ola Abdelhadi, Dian Donnai, Ype Elgersma, Cynthia J. Curry, Alice Gardham, Mohnish Suri, Rishikesh Malla, Lauren Ilana Brady, Mark Tarnopolsky, Dimitar N. Azmanov, Vanessa Atkinson, Michael Black, Gareth Baynam, Lauren Dreyer, Robin Z. Hayeems, Christian R. Marshall, Gregory Costain, Marja W. Wessels, Julia Baptista, James Drummond, Melanie Leffler, Michael Field, Jozef Gecz
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and splicing-defective THOC2 variant
Externí odkaz:
https://doaj.org/article/5c0d20a5917b47d18a91d82a488bbf3e
Autor:
Mark Agostino, Fiona McKenzie, Chloe Buck, Karen J. Woodward, Vanessa J. Atkinson, Dimitar N. Azmanov, Julian Ik-Tsen Heng
Publikováno v:
ACS Omega. 7:25039-25045
Missense variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d7be7ddb0d561bc8c668b0067fb7035
https://doi.org/10.1021/acsomega.2c00959
https://doi.org/10.1021/acsomega.2c00959
Autor:
Catherine S. Choong, John Beilby, Joan Uzaraga, Karen J. Woodward, Vicki Chabros, Fabiana Ramos Vasques Walters, Dimitar N. Azmanov, Sarah L. Nickerson, Dagmara A. Kennedy, Tanya Grumball, Joanne Peverall, Gillian M. Arscott, Tracey Edwards, Rebecca E. Brereton, Vanessa Marchin, Soruba Sivamoorthy, Sharron Townshend
Publikováno v:
American Journal of Medical Genetics Part A. 185:3136-3145
Silver-Russell syndrome (SRS) is a rare genetic condition primarily characterized by growth restriction and facial dysmorphisms. While hypomethylation of H19/IGF2:IG-DMR (imprinting control region 1 [IC1]) located at 11p15.5 and maternal uniparental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ede31251fe9231625fce8f9f6cdc7b9
https://doi.org/10.1002/ajmg.a.62391
https://doi.org/10.1002/ajmg.a.62391
Autor:
Polona Le Quesne Stabej, Beatriz Corredor, Robin Lovell Badge, Selim Kurtoglu, Karine Rizzoti, Louise C. Gregory, Andrea Accogli, Gabriel Á. Martos-Moreno, Hywel T. P. Williams, Luis A. Pérez-Jurado, John C. Achermann, Mehul T. Dattani, Zeynep Burçin Gönen, Sinead M. McGlacken-Byrne, Leyla Akin, Valeria Capra, Jenifer P. Suntharalingham, Stephane Mouilleron, Mohamad Maghnie, Velibor Tasic, Stefano Gustincich, Aleksandra Filipovska, Dimitar N. Azmanov, Christophe Galichet, Zoran Gucev, Iain C.A.F. Robinson, Mustafa Kendirci, Anatoly Tuilpakov, Jesús Argente, Federica Buonocore
Publikováno v:
Yearbook of Paediatric Endocrinology.
© 2021 American College of Medical Genetics and GenomicsPurpose: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. Methods: We used next-generation seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59bd1715ee8af88c72803ed53f509850
https://doi.org/10.1530/ey.19.1.7
https://doi.org/10.1530/ey.19.1.7
Autor:
Ram, Singh, Ana S A, Cohen, Cathryn, Poulton, Tina Duelund, Hjortshøj, Moe, Akahira-Azuma, Geetu, Mendiratta, Wahab A, Khan, Dimitar N, Azmanov, Karen J, Woodward, Maria, Kirchhoff, Lisong, Shi, Lisa, Edelmann, Gareth, Baynam, Stuart A, Scott, Ethylin Wang, Jabs
Publikováno v:
Cold Spring Harbor Molecular Case Studies
The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bbcb0e89bc87825bea96a82ae2f8c83f
https://pubmed.ncbi.nlm.nih.gov/34117072
https://pubmed.ncbi.nlm.nih.gov/34117072
Autor:
David J. Coote, Erik Andersen, Masaaki Komatsu, Andrew J. Kornberg, Mark R. Davis, Gianina Ravenscroft, Macarena Cabrera-Serrano, Catriona McLean, Nigel G. Laing, Dimitar N. Azmanov, Ryosuke Ishimura, Hayley Goullee, Zornitza Stark, Jean-Michel Vallat, Monique M. Ryan
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
[Background] UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological phenotypes have been associated with UBA5 pathogenic variants including epilepsy, intellectual disability, movement di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a4f69f7c66d26893a38323ea8a87aa5
http://hdl.handle.net/10261/237196
http://hdl.handle.net/10261/237196
Autor:
Simone Finzi, Janey L. Wiggs, David A. Mackey, Terri L. Young, Shahrbanou Javadiyan, Owen M. Siggs, Stuart W. Tompson, Francesca Pasutto, Xiaorong Liu, Dimitar N. Azmanov, Simon W. M. John, Yasmin S. Bradfield, Alex W. Hewitt, Kristina N. Whisenhunt, Liang Feng, Tuncer Onay, Jamie E Craig, Benjamin R. Thomson, Luba Kalaydjieva, Jing Jin, Emmanuelle Souzeau, Tammy L. Yanovitch, Krishnakumar Kizhatil, Susan E. Quaggin, Christine A Tanna, Tomokazu Souma
Publikováno v:
Journal of Clinical Investigation. 127:4421-4436
Primary congenital glaucoma (PCG) is a leading cause of blindness in children worldwide and is caused by developmental defects in 2 aqueous humor outflow structures, Schlemm’s canal (SC) and the trabecular meshwork. We previously identified loss-of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c7287db8159566227b0569b3795f01
https://doi.org/10.1172/jci95545
https://doi.org/10.1172/jci95545
Autor:
Jozef Gecz, Dani L. Webber, Kelly Harper, Stephen J. Bent, Luis A. Pérez-Jurado, Jesia G. Berry, Morgan Newman, Mark A. Corbett, Dimitar N. Azmanov, Alastair H. MacLennan, Jennie Slee, Clare L. van Eyk, Karen J. Woodward, Alison Gardner
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-1 (2019)
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-1 (2019)
Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) in 14% (14/98) of trios by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23c0504d5ab9f859ab088470934dcafc
https://doi.org/10.1038/s41525-019-0086-7
https://doi.org/10.1038/s41525-019-0086-7
Autor:
Kym Mina, G. Pathak, E. McCormack, Nicholas Pachter, Dimitar N. Azmanov, Gareth Baynam, A. Siafarikis, T. Lassman, Madhur Ravikumara, E. Taylor, Hugh Dawkins, L. Dreyer, Cathryn Poulton, Dylan Gration, M. OSullivan, S. Broley
Publikováno v:
Gene
Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically presents in the neonatal period with intractable diarrhoea, intra-uterine growth retardation (IUGR), facial d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c85a91d7c14e8692f500223da48a52f3
https://europepmc.org/articles/PMC7872052/
https://europepmc.org/articles/PMC7872052/
Autor:
Ana S. A. Cohen, Gareth Baynam, Ethylin Wang Jabs, Tina Duelund Hjortshøj, Dimitar N. Azmanov, Karen J. Woodward, Wahab A. Khan, Cathryn Poulton, Ram Singh, Maria Kirchhoff, Stuart A. Scott, Lisong Shi, Geetu Mendiratta, Lisa Edelmann, Moe Akahira-Azuma
Publikováno v:
Molecular Case Studies. 7:a005991
The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::174276cdd85caa4192c70339651008a6
https://doi.org/10.1101/mcs.a005991
https://doi.org/10.1101/mcs.a005991