Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Elham Sadighi Akha"'
Autor:
Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M Zameel Cader, Sarah Hughes, Richard J E Armstrong, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C Taylor, David Bentley, Gilean McVean, Peter Donnelly, Samantha J L Knight, Mandy Jackson, Jiannis Ragoussis, Andrea H Németh
Publikováno v:
PLoS Genetics, Vol 8, Iss 12, p e1003074 (2012)
β-III spectrin is present in the brain and is known to be important in the function of the cerebellum. Heterozygous mutations in SPTBN2, the gene encoding β-III spectrin, cause Spinocerebellar Ataxia Type 5 (SCA5), an adult-onset, slowly progressiv
Externí odkaz:
https://doaj.org/article/17f69ae6826a45c49f36daa08c4089a0
Autor:
Dianne F. Newbury, Alessandra Renieri, Roberto Canitano, Anthony P. Monaco, Francesca Mari, Jenny C. Taylor, Kay D. MacDermot, Elham Sadighi Akha, Simon E. Fisher, Samantha J. L. Knight
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 21, 4, pp. 361-365
European Journal of Human Genetics, 21, 361-365
European Journal of Human Genetics, 21, 4, pp. 361-365
European Journal of Human Genetics, 21, 361-365
We report clinical findings that extend the phenotype of the ~550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identif
Autor:
Andrew P. Jackson, Victoria Harrison, Jenny C. Taylor, Samantha J. L. Knight, David A. Keays, Kaseem A. Ajilogba, Jennie E. Murray, Louise S. Bicknell, Usha Kini, Elham Sadighi Akha, Helen Stewart, Alistair T. Pagnamenta, Grace Yoon
Publikováno v:
Pagnamenta, A T, Murray, J E, Yoon, G, Akha, E S, Harrison, V, Bicknell, L S, Ajilogba, K, Stewart, H, Kini, U, Taylor, J C, Keays, D A, Jackson, A P & Knight, S J L 2012, ' A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss ', American Journal of Medical Genetics Part A, vol. 158A, no. 10, pp. 2577-2582 . https://doi.org/10.1002/ajmg.a.35558
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part a
Primary microcephaly is a genetically heterogeneous condition characterized by reduced head circumference (−3 SDS or more) and mild-to-moderate learning disability. Here, we describe clinical and molecular investigations of a microcephalic child wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02fde7d68c0e6637be78a3955c262499
https://doi.org/10.1002/ajmg.a.35558
https://doi.org/10.1002/ajmg.a.35558
Autor:
Iain Mathieson, Gerardine Quaghebeur, Alexander T Deng, Helen Stewart, Valerie Murphy, Jenny C. Taylor, Elham Sadighi Akha, Sandeep Jayawant, Victoria Harrison, Samantha J. L. Knight, David A. Keays, Andrew J. Rimmer, Alistair T. Pagnamenta, Stefano Lise, Usha Kini
The development of next generation sequencing (NGS) has radically transformed the scientific landscape, making it possible to sequence the exome of any given individual in a cost-effective way. The power of this approach has been demonstrated by a nu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df3f6fd6e00519c5c1dbd8bd5c893246
https://ora.ox.ac.uk/objects/uuid:b128be72-f38b-4c1b-8332-14b8de3fcc3f
https://ora.ox.ac.uk/objects/uuid:b128be72-f38b-4c1b-8332-14b8de3fcc3f
Autor:
Gordana Djordjevic, Rebecca Tripp, Amanda J. Stranks, Elizabeth J. Soilleux, Monika Mortensen, Sten Eirik W. Jacobsen, Samantha J. L. Knight, Michael Lutteropp, Kamil R. Kranc, Elham Sadighi-Akha, Julie Glanville, Anna Katharina Simon
Publikováno v:
Mortensen, M, Soilleux, E J, Djordjevic, G, Tripp, R, Lutteropp, M, Sadighi-Akha, E, Stranks, A J, Glanville, J, Knight, S, Jacobsen, S-E W, Kranc, K R & Simon, A K 2011, ' The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance ', Journal of Experimental Medicine, vol. 208, no. 3, pp. 455-67 . https://doi.org/10.1084/jem.20101145
The Journal of Experimental Medicine
The Journal of Experimental Medicine
Adult mouse LSK cells unable to undergo autophagy contain fewer HSCs, accumulate mitochondria, and fail to reconstitute lethally irradiated mice.
The role of autophagy, a lysosomal degradation pathway which prevents cellular damage, in the maint
The role of autophagy, a lysosomal degradation pathway which prevents cellular damage, in the maint
Autor:
Louise C. Wilson, George Mavrothalassitis, Shehla Mohammed, Alain Verloes, Louise Izatt, Peter Hammond, Jim R. Hughes, Maryline Allegra, Stephen S. Taylor, Ioanna Peraki, Samantha J. L. Knight, Simon J. McGowan, Aimee L. Fenwick, Vikram P Sharma, Andreas Zaragkoulias, Elham Sadighi Akha, Elena Vorgia, Stephen R.F. Twigg, Fiona Stewart, Andrew O.M. Wilkie, Tracy Lester, Anne K. Lampe, Chris Healy, Helen Lord, Steven A. Wall, David W. Johnson, Paul T. Sharpe
Publikováno v:
Nature Genetics. 45(3)
The extracellular signal-related kinases 1 and 2 (ERK1/2) are key proteins mediating mitogen-activated protein kinase signaling downstream of RAS: phosphorylation of ERK1/2 leads to nuclear uptake and modulation of multiple targets. Here, we show tha
Autor:
Angie Green, Lorna Gregory, Richard J. E. Armstrong, Gilean McVean, Sandeep Jayawant, M. Zameel Cader, Emma M. Perkins, Ricardo P Schnekenberg, David Bentley, David Buck, Iain Mathieson, Yvonne L. Clarkson, Jiannis Ragoussis, Gerardine Quaghebeur, Mandy Jackson, Elham Sadighi Akha, Stefano Lise, Sarah Hughes, Samantha J. L. Knight, Peter Donnelly, Alexandra Kwasniewska, Daumante Suminaite, Chris Allan, Ian Baker, Jilly Hope, Andrea H. Németh, Jenny C. Taylor, Jean-Baptiste Cazier, Alexander Kanapin, Andrew J. Rimmer, Sarah Lamble, Gerton Lunter
Publikováno v:
Lise, S, Clarkson, Y, Perkins, E, Kwasniewska, A, Akha, E S, Schnekenberg, R P, Suminaite, D, Hope, J, Baker, I, Gregory, L, Green, A, Allan, C, Lamble, S, Jayawant, S, Quaghebeur, G, Cader, M Z, Hughes, S, Armstrong, R J E, Kanapin, A, Rimmer, A, Lunter, G, Mathieson, I, Cazier, J-B, Buck, D, Taylor, J C, Bentley, D, McVean, G, Donnelly, P, Knight, S J L, Jackson, M, Ragoussis, J & Nemeth, A H 2012, ' Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development ', PLoS Genetics, vol. 8, no. 12, ARTN e1003074 . https://doi.org/10.1371/journal.pgen.1003074
PLoS Genetics, Vol 8, Iss 12, p e1003074 (2012)
PLoS Genetics
PLoS Genetics, Vol 8, Iss 12, p e1003074 (2012)
PLoS Genetics
β-III spectrin is present in the brain and is known to be important in the function of the cerebellum. Heterozygous mutations in SPTBN2, the gene encoding β-III spectrin, cause Spinocerebellar Ataxia Type 5 (SCA5), an adult-onset, slowly progressiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf071338a7eeb9c730581607079ff8b2
https://hdl.handle.net/20.500.11820/fe53dc34-47af-4e45-bd40-bd0b30bf7fba
https://hdl.handle.net/20.500.11820/fe53dc34-47af-4e45-bd40-bd0b30bf7fba
Autor:
Tariq Enver, Samantha J. L. Knight, Adele Timbs, Jenny C. Taylor, Anna Schuh, Chris Hatton, Andrew R. Pettitt, Elham Sadighi Akha
Publikováno v:
BLOOD. 114(22)
Abstract 1098 Poster Board I-120 Background B-cell chronic lymphocytic leukaemia (B-CLL) is the most common form of adult leukaemia in the Western World. It is a heterogeneous disease and important biological and clinical differences have been identi
Autor:
Annemarie Poustka, Kirsty Wing, Anthony J. Bailey, Fritz Poustka, Sven Bölte, Sabine M. Klauck, Jiannis Ragoussis, Alistair T. Pagnamenta, Elham Sadighi Akha, Samantha J. L. Knight, Eftichia Duketis, Anthony P. Monaco, Gabriele Schmötzer
Publikováno v:
European journal of human genetics : EJHG. 17(5)
Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare approximately 2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This gen
Autor:
Mangano, Valentina, Gaia, Luoni, Rockett, Kirk A., Sirima, Bienvenu S., Amadou, Konaté, Julian, Forton, Elham Sadighi Akha, Kwiatkowski, Dominic P., Modiano, David
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3686::2e708aacba289738df1983689058b070
http://hdl.handle.net/11573/482932
http://hdl.handle.net/11573/482932