Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Francesca, Pasutto"'
Autor:
Jibril B. Hirbo, Francesca Pasutto, Eric R. Gamazon, Patrick Evans, Priyanka Pawar, Daniel Berner, Julia Sealock, Ran Tao, Peter S. Straub, Anuar I. Konkashbaev, Max A. Breyer, Ursula Schlötzer-Schrehardt, André Reis, Milam A. Brantley, Chiea C. Khor, Karen M. Joos, Nancy J. Cox
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-17 (2023)
Abstract Background Exfoliation syndrome (XFS) is an age-related systemic disorder characterized by excessive production and progressive accumulation of abnormal extracellular material, with pathognomonic ocular manifestations. It is the most common
Externí odkaz:
https://doaj.org/article/82d3f177781d42b589d0669591c932ac
Autor:
Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. Young, Veronique Vitart, Alberta A. H. J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, and Me Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor, Janey L. Wiggs
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk l
Externí odkaz:
https://doaj.org/article/ea46188f0f2c4f0cae58f959caf971a2
Autor:
Francesca Pasutto, Matthias Zenkel, Ursula Hoja, Daniel Berner, Steffen Uebe, Fulvia Ferrazzi, Johannes Schödel, Panah Liravi, Mineo Ozaki, Daniela Paoli, Paolo Frezzotti, Takanori Mizoguchi, Satoko Nakano, Toshiaki Kubota, Shinichi Manabe, Erika Salvi, Paolo Manunta, Daniele Cusi, Christian Gieger, Heinz-Erich Wichmann, Tin Aung, Chiea Chuen Khor, Friedrich E. Kruse, André Reis, Ursula Schlötzer-Schrehardt
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)
LOXL1 is a genetic risk factor for pseudoexfoliation syndrome of the eye but a causal variant has not been identified. Here, Pasutto et al., find intronic LOXL1 risk variants influence transcription factor binding and alternative splicing of LOXL1 in
Externí odkaz:
https://doaj.org/article/4c5b624c0f3046ca8b61dfafdf853221
Autor:
Kelsey V. Stuart, Robert N. Luben, Alasdair N. Warwick, Kian M. Madjedi, Praveen J. Patel, Mahantesh I. Biradar, Zihan Sun, Mark A. Chia, Louis R. Pasquale, Janey L. Wiggs, Jae H. Kang, Jihye Kim, Hugues Aschard, Jessica H. Tran, Marleen A.H. Lentjes, Paul J. Foster, Anthony P. Khawaja, Mark Chia, Sharon Chua, Ron Do, Paul Foster, Jae Kang, Alan Kastner, Anthony Khawaja, Marleen Lentjes, Robert Luben, Kian Madjedi, Giovanni Montesano, Louis Pasquale, Kelsey Stuart, Alasdair Warwick, Janey Wiggs, Naomi Allen, Tariq Aslam, Denize Atan, Sarah Barman, Jenny Barrett, Paul Bishop, Graeme Black, Tasanee Braithwaite, Roxana Carare, Usha Chakravarthy, Michelle Chan, Alexander Day, Parul Desai, Bal Dhillon, Andrew Dick, Alexander Doney, Cathy Egan, Sarah Ennis, Marcus Fruttiger, John Gallacher, David (Ted) Garway-Heath, Jane Gibson, Jeremy Guggenheim, Chris Hammond, Alison Hardcastle, Simon Harding, Ruth Hogg, Pirro Hysi, Pearse Keane, Peng Tee Khaw, Gerassimos Lascaratos, Thomas Littlejohns, Andrew Lotery, Phil Luthert, Tom MacGillivray, Sarah Mackie, Bernadette McGuinness, Gareth McKay, Martin McKibbin, Tony Moore, James Morgan, Eoin O'Sullivan, Richard Oram, Chris Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Nikolas Pontikos, Jugnoo Rahi, Alicja Rudnicka, Naveed Sattar, Jay Self, Panagiotis Sergouniotis, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas Strouthidis, Cathie Sudlow, Robyn Tapp, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Ananth Viswanathan, Veronique Vitart, Mike Weedon, Katie Williams, Cathy Williams, Jayne Woodside, Max Yates, Jennifer Yip, Yalin Zheng, Tin Aung, Kathryn Burdon, Li Chen, Ching-Yu Cheng, Jamie Craig, Angela Cree, Victor de Vries, Sjoerd Driessen, John Fingert, Puya Gharahkhani, Christopher Hammond, Caroline Hayward, Alex Hewitt, Nomdo Jansonius, Fridbert Jonansson, Jost Jonas, Michael Kass, Chiea Khor, Caroline Klaver, Jacyline Koh, Stuart MacGregor, David Mackey, Paul Mitchell, Calvin Pang, Francesca Pasutto, Norbert Pfeiffer, Ozren Polašek, Wishal Ramdas, Alexander Schuster, Ayellet Segrè, Einer Stefansson, Kári Stefánsson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Cornelia van Duijn, Joëlle Vergroesen, Eranga Vithana, James Wilson, Robert Wojciechowski, Tien Wong, Terri Young
Publikováno v:
Ophthalmology Glaucoma.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3c2eddb3a6b0feefab2f41b587626fd
https://doi.org/10.1016/j.ogla.2022.11.008
https://doi.org/10.1016/j.ogla.2022.11.008
Autor:
Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau
Publikováno v:
Human mutationREFERENCES. 43(12)
The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e753fd04838e5fc9bb66a21448b779
https://pubmed.ncbi.nlm.nih.gov/36217948
https://pubmed.ncbi.nlm.nih.gov/36217948
Autor:
Matthias Zenkel, Ursula Hoja, Andreas Gießl, Daniel Berner, Bettina Hohberger, Julia M. Weller, Loretta König, Lisa Hübner, Thomas A. Ostermann, Gabriele C. Gusek-Schneider, Friedrich E. Kruse, Francesca Pasutto, Ursula Schlötzer-Schrehardt
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 11; Pages: 5977
Pseudoexfoliation (PEX) syndrome, a stress-induced fibrotic matrix process, is the most common recognizable cause of open-angle glaucoma worldwide. The recent identification of PEX-associated gene variants uncovered the vitamin A metabolic pathway as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4473be00ebd942861151378e6cdf993f
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/20670
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/20670
Autor:
Emmanuelle Souzeau, Shannon Le Blanc, Jamie E Craig, Owen M. Siggs, Francesca Pasutto, Lesley M McGregor, Luis A. Pérez-Jurado, Jan Liebelt, Christopher P. Barnett, Lachlan S.W. Knight
Publikováno v:
American Journal of Medical Genetics Part A. 185:434-439
Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1286e0d96934b7e70a3d0175c4e8b2fe
https://doi.org/10.1002/ajmg.a.61982
https://doi.org/10.1002/ajmg.a.61982
Autor:
Florian J. Wopperer, Karl X. Knaup, Kira J. Stanzick, Karen Schneider, Tilman Jobst-Schwan, Arif B. Ekici, Steffen Uebe, Andrea Wenzel, Stefan Schliep, Carsten Schürfeld, Randolf Seitz, Wanja Bernhardt, Markus Gödel, Antje Wiesener, Bernt Popp, Klaus J. Stark, Hermann-Josef Gröne, Björn Friedrich, Martin Weiß, Nikolina Basic-Jukic, Mario Schiffer, Bernd Schröppel, Bruno Huettel, Bodo B. Beck, John A. Sayer, Christine Ziegler, Maike Büttner-Herold, Kerstin Amann, Iris M. Heid, André Reis, Francesca Pasutto, Michael S. Wiesener
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout the literature, variable numbers of families have been reported, where
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2575f0e83adf0d5a5ddc111d91231443
Autor:
Francesca Pasutto, Barbara Dietel, Stephan Achenbach, Nora M. Schacher, Katharina Urschel, Miyuki Tauchi, Florian M. Stumpfe, Dorette Raaz‑Schrauder
Publikováno v:
International Journal of Molecular Medicine
Single nucleotide polymorphisms (SNPs) in vascular endothelial growth factor receptor 2 (VEGFR2) are associated with coronary artery disease, hypertension and myocardial infarction. However, their association with atherosclerosis remains to be fully
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca0e7990ae88c2c3be0f6e38ff790bd
http://europepmc.org/articles/PMC6713417
http://europepmc.org/articles/PMC6713417
Publikováno v:
Genes, Vol 12, Iss 359, p 359 (2021)
Note: In lieu of an abstract, this is an excerpt from the first page. In the special issue “Molecular Genetics of Retinal Dystrophies”, Morales–Cámara and colleagues reported the association of a new candidate gene with primary congenital glau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20ca2809269438dba7354f990e784d7c
https://www.mdpi.com/2073-4425/12/3/359
https://www.mdpi.com/2073-4425/12/3/359