Zobrazeno 1 - 10
of 4 358
pro vyhledávání: '"Fred K"'
Autor:
Suzanne E. de Bruijn, Daan M. Panneman, Nicole Weisschuh, Elizabeth L. Cadena, Erica G. M. Boonen, Lara K. Holtes, Galuh D. N. Astuti, Frans P. M. Cremers, Nico Leijsten, Jordi Corominas, Christian Gilissen, Anna Skowronska, Jessica Woodley, Andrew D. Beggs, Vasileios Toulis, Di Chen, Michael E. Cheetham, Alison J. Hardcastle, Terri L. McLaren, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, John N. de Roach, Isabella R. Urwin, Lori S. Sullivan, Susanne Roosing
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionAutosomal dominant retinitis pigmentosa type 17 (adRP, type RP17) is caused by complex structural variants (SVs) affecting a locus on chromosome 17 (chr17q22). The SVs disrupt the 3D regulatory landscape by altering the topologically asso
Externí odkaz:
https://doaj.org/article/4befa15848f34806ac97263fee8b70c9
Autor:
Elaine Y.M. Wong, Xin E. Khoh, Shang-Chih Chen, Joey Lye, Fiona K. Leith, Dan Zhang, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Marcus D. Atlas, Fred K. Chen, Samuel McLenachan
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103492- (2024)
Usher syndrome (USH) is the most common cause of inherited deaf-blindness. Here, we produced the LEIi020-A and LEIi020-B induced pluripotent stem cell (iPSC) lines from dermal fibroblasts derived from a patient with USH1B caused by inheritance of hom
Externí odkaz:
https://doaj.org/article/d973400b1fc549acb8e519812dc07c06
Autor:
Gavrielle R. Untracht, Madeleine S. Durkee, Mei Zhao, Andrew Kwok-Cheung Lam, Bartosz L. Sikorski, Marinko V. Sarunic, Peter E. Andersen, David D. Sampson, Fred K. Chen, Danuta M. Sampson
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Quantitative assessment of retinal microvasculature in optical coherence tomography angiography (OCTA) images is important for studying, diagnosing, monitoring, and guiding the treatment of ocular and systemic diseases. However, the OCTA use
Externí odkaz:
https://doaj.org/article/f2aa2a057fb94c829e8db7dd34547404
Autor:
Suzanne Arends, Silvia C Liefers, Frans G M Kroese, Arjan Vissink, Hendrika Bootsma, Bert van der Vegt, Alja J Stel, Fred K L Spijkervet, Gwenny M Verstappen, Wineke Armbrust, Geertje Elizabeth Legger, Uzma Nakshbandi, Martha S van Ginkel, Lisette de Wolff
Publikováno v:
RMD Open, Vol 10, Iss 3 (2024)
Objectives The aim of this study was to assess the histopathological features of the parotid glands in patients with paediatric-onset Sjögren’s disease (pedSjD) in comparison to patients with adult-onset Sjögren’s disease (adSjD).Methods This s
Externí odkaz:
https://doaj.org/article/9dca821a3c7546239770a9d6e33b9d96
Autor:
Dan Zhang, Luke Jennings, Shang-Chih Chen, Khine Zaw, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Fred K. Chen, Samuel McLenachan
Publikováno v:
Stem Cell Research, Vol 78, Iss , Pp 103461- (2024)
The human induced pluripotent stem cell (iPSC) line LEIi019-A was generated from a patient with early-onset pattern dystrophy caused by a heterozygous mutation NM_001270525.1:c.259G>A (p.Glu87Lys) in OTX2. Patient-derived dermal fibroblasts were repr
Externí odkaz:
https://doaj.org/article/bbeb1aa4647d4b17a4effd9d1ce86573
Autor:
Devahuti R. Chaliha, Mauro Vaccarezza, Jason Charng, Fred K. Chen, Amy Lim, Peter Drummond, Ryusuke Takechi, Virginie Lam, Satvinder S. Dhaliwal, John C. L. Mamo
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Migraine is one of the world’s most debilitating disorders, and it has recently been shown that changes in the retina can be a potential biomarker for the disease. These changes can be detected by optical coherence tomography (OCT), which measures
Externí odkaz:
https://doaj.org/article/eb933a6e46c945608eddd6bc31d81987
Autor:
Sandi L. Navarro, Brian D. Williamson, Ying Huang, G. A. Nagana Gowda, Daniel Raftery, Lesley F. Tinker, Cheng Zheng, Shirley A. A. Beresford, Hayley Purcell, Danijel Djukovic, Haiwei Gu, Howard D. Strickler, Fred K. Tabung, Ross L. Prentice, Marian L. Neuhouser, Johanna W. Lampe
Publikováno v:
Metabolites, Vol 14, Iss 8, p 463 (2024)
Metabolomics has been used extensively to capture the exposome. We investigated whether prospectively measured metabolites provided predictive power beyond well-established risk factors among 758 women with adjudicated cancers [n = 577 breast (BC) an
Externí odkaz:
https://doaj.org/article/ee0a525611cb46a093caf9512b504bd6
Autor:
Owusu F. Aidoo, Fred K. Ablormeti, Kodwo D. Ninsin, Akua K. Antwi-Agyakwa, Jonathan Osei-Owusu, William K. Heve, Aboagye K. Dofuor, Yovanna L. Soto, George Edusei, Angelina F. Osabutey, Frederick L. Sossah, Clement O. Aryee, Olufemi J. Alabi, Mamoudou Sétamou
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract As significant threats to global citrus production, Diaphorina citri (Kuwayama; Hemiptera: Psyllidae) and Trioza erytreae (Del Guercio; Hemiptera: Triozidae) have caused considerable losses to citrus trees globally. Diaphorina citri vectors
Externí odkaz:
https://doaj.org/article/acb6d0c63b754ad0968de7c416eb623e
Autor:
Devahuti R. Chaliha, Mauro Vaccarezza, Emily Corti, Ryusuke Takechi, Satvinder S. Dhaliwal, Peter Drummond, Eric Visser, Fred K. Chen, Jason Charng, Virginie Lam, John C.L. Mamo
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-12 (2023)
Abstract Background Migraine is a common and distressing neurological condition characterised by recurrent throbbing headaches, nausea and heightened sensitivity to light and sound. Accumulating evidence suggests that cerebral arteries dilate during
Externí odkaz:
https://doaj.org/article/319922a3debd4d229a3510b856fc6128
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762