Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Sara Cuvertino"'
Autor:
Fabrizio E. Mancini, Paul E. A. Humphreys, Steven Woods, Nicola Bates, Sara Cuvertino, Julieta O’Flaherty, Leela Biant, Marco A. N. Domingos, Susan J. Kimber
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Osteoarthritis is the most common degenerative joint condition, leading to articular cartilage (AC) degradation, chronic pain and immobility. The lack of appropriate therapies that provide tissue restoration combined with the limited lifespa
Externí odkaz:
https://doaj.org/article/7f0785f7ef8b40a899ff7fca232187f7
Autor:
Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
eIF5A is critical for protein synthesis but has not yet been associated with congenital human disease. Here, the authors show that EIF5A variants cause a Mendelian disorder via reduced eIF5A-ribosome interactions and this phenotype is partially corre
Externí odkaz:
https://doaj.org/article/e484f6bf742d4dfaa468f76258820800
Publikováno v:
Stem Cell Reports, Vol 4, Iss 3, Pp 431-444 (2015)
The generation of in vivo repopulating hematopoietic cells from in vitro differentiating embryonic stem cells has remained a long-standing challenge. To date, hematopoietic engraftment has mostly been achieved through the enforced expression of ectop
Externí odkaz:
https://doaj.org/article/bd8334591c58438ab097d81012be8c73
Publikováno v:
Open Biology, Vol 6, Iss 7 (2016)
During embryogenesis, the three SOXF transcription factors, SOX7, SOX17 and SOX18, regulate the specification of the cardiovascular system and are also involved in the development of haematopoiesis. The ectopic expression of SOX17 in both embryonic a
Externí odkaz:
https://doaj.org/article/3b45ec16f39e4f03938a04bd8cc0f068
Autor:
Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Hardman-Smart, Derek Pye, Antonio Torrelo, Glenda M. Beaman, Marcelo G. Kazanietz, Martin J. Baker, Carlo Ferrazzano, Chenfu Shi, Gisela Orozco, Stephen Eyre, Michel van Geel, Anette Bygum, Judith Fischer, Zosia Miedzybrodzka, Faris Abuzahra, Albert Rübben, Sara Cuvertino, Jamie M. Ellingford, Miriam J. Smith, D. Gareth Evans, Lizelotte J.M.T. Weppner-Parren, Maurice A.M. van Steensel, Iskander H. Chaudhary, D. Chas Mangham, John T. Lear, Ralf Paus, Jorge Frank, William G. Newman, Xue Zhang
Publikováno v:
British Journal of Dermatology, 187(6), 948-961. Wiley
Background Bazex–Dupré–Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS
Autor:
Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Hardman-Smart, Derek Pye, Antonio Torrelo, Glenda M. Beaman, Marcelo G. Kazanietz, Martin J Baker, Carlo Ferrazzano, Chenfu Shi, Gisela Orozco, Stephen Eyre, Michel van Geel, Anette Bygum, Judith Fischer, Zosia Miedzybrodzka, Faris Abuzahra, Albert Rübben, Sara Cuvertino, Jamie M. Ellingford, Miriam J. Smith, D. Gareth Evans, Lizelotte J.M.T Weppner-Parren, Maurice A.M. van Steensel, Iskander H. Chaudhary, D. Chas Mangham, John T. Lear, Ralf Paus, Jorge Frank, William G. Newman, Xue Zhang
BackgroundBazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f771ae001418a78ce8b7b617e700c3ed
https://doi.org/10.1101/2022.02.12.22270762
https://doi.org/10.1101/2022.02.12.22270762
Autor:
George J Burghel, Shruti Garg, Rory J Tinker, Maggie Steggall, Sara Cuvertino, Siddharth Banka
Publikováno v:
Tinker, R J, Burghel, G J, Garg, S, Steggall, M, Cuvertino, S & Banka, S 2020, ' Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder ', American Journal of Medical Genetics Part A . https://doi.org/10.1002/ajmg.a.61905
We recently contributed to the description of eight individuals with a novel condition caused by 16p13.3 microdeletions encompassing TBC1D24, ATP6V0C, and PDPK1 and resulting in epilepsy, microcephaly and neurodevelopmental problems. The phenotypic s
Autor:
Karen Stals, Sara Cuvertino, Víctor Faundes, Frances Flinter, Lihadh Al-Gazali, Santina Venuto, Vagheesh M. Narasimhan, Laura Southgate, Colin A. Johnson, Eamonn Sheridan, Nisha Nair, Anne Barton, Alice Colyer, Susan J. Kimber, Brian R. Jackson, Adam Stevens, Daniel Weisberg, Natalie Canham, Giuseppe Merla, Gabriella Maria Squeo, Richard C. Trembath, Sally Ann Lynch, Fatima Nadat, Terence Garner, Robert Sellers, Sian Ellard, Muriel Holder-Espinasse, David A. van Heel, Michelle Peckham, Francesca Montanari, Siddharth Banka, Verity L. Hartill, Marco Seri, Jozef Hertecant
Publikováno v:
Cuvertino, S, Garner, T, Nair, N, Faundes Gomez, V, Sellers, R, Barton, A, Kimber, S, Banka, S & et al. 2020, ' A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0743-3
Genetics in Medicine
Genetics in Medicine
Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). Methods: Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Autor:
Saskia B. Wortmann, Simon C. Lovell, Antoine H. C. van Kampen, Stefan Kölker, Martin Lowe, Sacha Ferdinandusse, Peter E. Clayton, Angela C. M. Luyf, Ronald J.A. Wanders, Richard C. Rogers, Siddharth Banka, Sara Cuvertino, Kay Metcalfe, Marc Engelen, Martin A. T. Vervaart, Hyung L. Elfrink, Rebecca Yarwood, Mia L. Pras-Raves, John H McDermott, Michel van Weeghel, Deciphering Developmental Disorders Study, Jos P.N. Ruiter, Henk van Lenthe, Marielle Alders, Frédéric M. Vaz
Publikováno v:
Brain
Brain 142, 3382-3397 (2019)
Mcdermott, J, Metcalfe, K, Banka, S, Cuvertino, S, Clayton, P, Yarwood, R, Lowe, M & Lovell, S 2019, ' Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia ', Brain : a journal of neurology, vol. 142, no. 11, pp. 3382-3397 . https://doi.org/10.1093/brain/awz291
Brain, 142(11), 3382-3397. Oxford University Press
Brain 142, 3382-3397 (2019)
Mcdermott, J, Metcalfe, K, Banka, S, Cuvertino, S, Clayton, P, Yarwood, R, Lowe, M & Lovell, S 2019, ' Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia ', Brain : a journal of neurology, vol. 142, no. 11, pp. 3382-3397 . https://doi.org/10.1093/brain/awz291
Brain, 142(11), 3382-3397. Oxford University Press
Vaz, McDermott et al. identify variants in PCYT2, which encodes a key gene in phospholipid biosynthesis, in five individuals with a new complex hereditary spastic paraplegia. Functional studies in fibroblasts and a zebrafish model confirm the pathoge
Autor:
Franconi C, Erika Tenderini, Pierre-Luc Germain, Pereira Mf, Capocefalo D, Alessandro Vitriolo, Natascia Malerba, Tjitske Kleefstra, Nael Nk, Tom S. Koemans, Susan J. Kimber, Sara Cuvertino, Nitin Sabherwal, Monica Frega, Bèchet Nb, Michele Gabriele, van Bokhoven H, Orazio Palumbo, Massimo Carella, Squeo Gm, Giuseppe Merla, C. T. R. M. Stumpel, Catherine B. Millar, Castaldi D, Giuseppe Testa, Siddharth Banka
Kabuki syndrome (KS) is a rare multisystem disorder, characterized by intellectual disability, growth delay, and distinctive craniofacial features. It is mostly caused by de novo mutations of KMT2D, which is responsible for histone H3lysine 4 mono-me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb3afc953da6a213c5f3da2f3a49d224
https://doi.org/10.1101/2021.04.22.440945
https://doi.org/10.1101/2021.04.22.440945