Zobrazeno 1 - 10
of 235
pro vyhledávání: '"Rando Allikmets"'
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
Autor:
Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100237- (2023)
Summary: The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further lig
Externí odkaz:
https://doaj.org/article/a1a8d45cbb204fa082951b43db411a0f
Autor:
Kevin T. Eade, Brendan Robert E. Ansell, Sarah Giles, Regis Fallon, Sarah Harkins-Perry, Takayuki Nagasaki, Simone Tzaridis, Martina Wallace, Elizabeth A. Mills, Samaneh Farashi, Alec Johnson, Lydia Sauer, Barbara Hart, M. Elena Diaz-Rubio, Melanie Bahlo, Christian Metallo, Rando Allikmets, Marin L. Gantner, Paul S. Bernstein, Martin Friedlander
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 9 (2023)
Patient-derived induced pluripotent stem cells (iPSCs) provide a powerful tool for identifying cellular and molecular mechanisms of disease. Macular telangiectasia type 2 (MacTel) is a rare, late-onset degenerative retinal disease with an extremely h
Externí odkaz:
https://doaj.org/article/c36953378fea49618ef3b23be50c87cb
Autor:
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyr
Externí odkaz:
https://doaj.org/article/1e65e94f0222440682536d647ca33028
Autor:
Masha Kolesnikova, Jin Kyun Oh, Jiali Wang, Winston Lee, Jana Zernant, Pei-Yin Su, Angela H. Kim, Laura A. Jenny, Tingting Yang, Rando Allikmets, Stephen H. Tsang
Publikováno v:
JCI Insight, Vol 7, Iss 23 (2022)
Here, we describe affected members of a 2-generation family with a Stargardt disease–like phenotype caused by a 2–base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole-exo
Externí odkaz:
https://doaj.org/article/b1ea07fb114f4f45bb36d52b2774c97f
Autor:
Pei-Yin Su, Winston Lee, Jana Zernant, Stephen H. Tsang, Takayuki Nagasaki, Barbara Corneo, Rando Allikmets
Publikováno v:
Stem Cell Research, Vol 65, Iss , Pp 102973- (2022)
Pathogenic variation in the ABCA4 gene is the underlying cause of Stargardt disease, the most common inherited retinal degeneration. We established an induced pluripotent stem cell line for retinal organoid research from a patient with mild disease f
Externí odkaz:
https://doaj.org/article/3466a8aac76a4a1885d5099bcb0e51e1
Autor:
Roberto Bonelli, Victoria E. Jackson, Aravind Prasad, Jacob E. Munro, Samaneh Farashi, Tjebo F. C. Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, MacTel Consortium, Catherine A. Egan, Rando Allikmets, Brendan R. E. Ansell, Melanie Bahlo
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
Melanie Bahlo and colleagues report a genome-wide association study on the retinal degenerative disease Macular Telangiectasia Type 2, identifying 8 new genome-wide significant loci. Further analyses suggest key roles for genes that transport and syn
Externí odkaz:
https://doaj.org/article/9cba7a84572b4acc832cac9a6d05482a
Autor:
Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A Fishman, Stephen H Tsang, Santa J Tumminia, Brian P Brooks, Robert B Hufnagel, Rui Chen, Rando Allikmets
Publikováno v:
PLoS Genetics, Vol 18, Iss 3, p e1010129 (2022)
Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt disease is the most prevalent Mendelian eye disorder, although its underlyin
Externí odkaz:
https://doaj.org/article/16ae8541b56c4895996794e432314265
Publikováno v:
JCI Insight, Vol 7, Iss 2 (2022)
Background More than 1500 variants in the ATP-binding cassette, sub-family A, member 4 (ABCA4), locus underlie a heterogeneous spectrum of retinal disorders ranging from aggressive childhood-onset chorioretinopathy to milder late-onset macular diseas
Externí odkaz:
https://doaj.org/article/3cf870671925428990b2eefd46192d1a
Autor:
Roberto Bonelli, Victoria E. Jackson, Aravind Prasad, Jacob E. Munro, Samaneh Farashi, Tjebo F. C. Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, MacTel Consortium, Catherine A. Egan, Rando Allikmets, Brendan R. E. Ansell, Melanie Bahlo
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-1 (2021)
A Correction to this paper has been published: https://doi.org/10.1038/s42003-021-01972-y
Externí odkaz:
https://doaj.org/article/8e9e260332a94a1b9593ace90158e3ba