Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Lettie E Rawlins"'
Autor:
Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Emma L Baple
Publikováno v:
PLoS Genetics, Vol 18, Iss 3, p e1010114 (2022)
The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component of the TRAPP II complex,
Externí odkaz:
https://doaj.org/article/5c426a88bf9249aa9daecb2e85ea53bb
Autor:
Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Ethan Scott, Jim Deline, Tom Herr, Rebecca Evans, Angela Scheid, Joanna Kennedy, Barry A Chioza, Ryan M Ames, Harold E Cross, Erik G Puffenberger, Lorna Harries, Emma L Baple, Andrew H Crosby
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009803 (2021)
SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findi
Externí odkaz:
https://doaj.org/article/2f9a3a5365ad4563a237423cdb93c9ca
Autor:
Asif Naveed Ahmed, Lettie E. Rawlins, Niamat Khan, Zakir Jan, Nishanka Ubeyratna, Nikol Voutsina, Arfa Azeem, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration.
Externí odkaz:
https://doaj.org/article/00273e2104094d10a1cd9099b901bb64
Autor:
Arfa Azeem, Asif Naveed Ahmed, Niamat Khan, Nikol Voutsina, Irfan Ullah, Nishanka Ubeyratna, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Lettie E. Rawlins, Shamim Saleha
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Background Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of neurogenetic conditions with significant overlaps of clinical features. Spastic
Externí odkaz:
https://doaj.org/article/d4bf35dcfb944293a3a071c1c5bad1e8
Autor:
Joan Sala-Gaston, Eva M. Pérez-Villegas, José A. Armengol, Lettie E. Rawlins, Emma L. Baple, Andrew H. Crosby, Francesc Ventura, Jose Luis Rosa
Publikováno v:
Cell Death Discovery, Vol 10, Iss 1, Pp 1-12 (2024)
Abstract Sequence variants in the HERC2 gene are associated with a significant reduction in HERC2 protein levels and cause a neurodevelopmental disorder known as the HERC2-related disorder, which shares clinical features with Angelman syndrome, inclu
Externí odkaz:
https://doaj.org/article/0e471a4904ad40a3b415c0182d7f8144
Autor:
Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Muhammad Taimur Hassan, Muhammad Karam, Lettie E. Rawlins, Emma L Baple, Andrew H. Crosby, Shamim Saleha
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background Retinitis Pigmentosa (RP) is a clinically and genetically progressive retinal dystrophy associated with severe visual impairments and sometimes blindness, the most common syndromic form of which is Usher syndrome (USH). This study
Externí odkaz:
https://doaj.org/article/714d8d655b1d45cf87f92dd5c5c4f5b4
Autor:
Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad, Asma Gul
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)
Abstract Background Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden. Methods We investigated
Externí odkaz:
https://doaj.org/article/6bcad50c52f9412a80b170614d58f361
Autor:
Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Amna Mohammed Al-Futaisi, Fathiya Al-Murshedi, Joanna Kennedy, Jacob O Day, Thomas Courtin, Aisha Al-Khayat, Hamid Galedari, Neda Mazaheri, Margherita Protasoni, Mark Johnson, Joseph S Leslie, Claire G Salter, Lettie E Rawlins, James Fasham, Almundher Al-Maawali, Nikol Voutsina, Perrine Charles, Laura Harrold, Boris Keren, Edmund R S Kunji, Barbara Vona, Gholamreza Jelodar, Alireza Sedaghat, Gholamreza Shariati, Henry Houlden, Andrew H Crosby, Julien Prudent, Emma L Baple
The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all Mendelian disorders. They comprise a large group of neurodegenerative diseases that may be divided into ‘pure HSP’ in forms of the disease primarily entailing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b13c34010c32ae9451b975e0a2602c6
https://www.repository.cam.ac.uk/handle/1810/335811
https://www.repository.cam.ac.uk/handle/1810/335811
Autor:
Maria O. Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Phillip H. Iffland, Malin H.L. Andersson, Caleb Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, Perrine F. Kretz, Sarina G. Kant, Alexandra Neaverson, Esther Nibbeling, Christine Rowley, Emily Relton, Mark Sanderson, Ethan M. Scott, Helen Stewart, Andrew Y. Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J. Lelliott, Peter B. Crino, Binnaz Yalcin, Andrew Crosby, Emma L. Baple, Darren W. Logan, Matthew E. Hurles, Sebastian S. Gerety
KPTN-related disorder (KRD) is an autosomal recessive disorder associated with germline variants in KPTN (kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KRD, we analysed mouse knockout a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4cbb0278fd0279fd1689af80476ba3a
https://doi.org/10.1101/2022.07.15.500213
https://doi.org/10.1101/2022.07.15.500213
Autor:
Joan Sala-Gaston, Leonardo Pedrazza, Juanma Ramirez, Arturo Martinez-Martinez, Lettie E. Rawlins, Emma L. Baple, Andrew H. Crosby, Ugo Mayor, Francesc Ventura, Jose Luis Rosa
HERC2 gene encodes an E3 ubiquitin ligase involved in several cellular processes by regulating the ubiquitylation of different protein substrates. Biallelic pathogenic sequence variants in the HERC2 gene are associated with HERC2 Angelman-like syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246e2e141f3466c5706349bb44dc56e2
https://doi.org/10.21203/rs.3.rs-1600424/v1
https://doi.org/10.21203/rs.3.rs-1600424/v1