Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Vanita, Berry"'
Publikováno v:
BMJ Open Ophthalmology, Vol 8, Iss 1 (2023)
Background A five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn’s disease (CD).Methods WES was performed for u
Externí odkaz:
https://doaj.org/article/5c412eb6c2ba48cabf610a7a324f86ac
Autor:
Emilia Boiadjieva Knöpfel, Clara Vilches, Simone M. R. Camargo, Ekaitz Errasti-Murugarren, Andrina Stäubli, Clara Mayayo, Francis L. Munier, Nataliya Miroshnikova, Nadège Poncet, Alexandra Junza, Shomi S. Bhattacharya, Esther Prat, Vanita Berry, Wolfgang Berger, Elise Heon, Anthony T. Moore, Óscar Yanes, Virginia Nunes, Manuel Palacín, Francois Verrey, Barbara Kloeckener-Gruissem
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Cataract, the loss of ocular lens transparency, accounts for ∼50% of worldwide blindness and has been associated with water and solute transport dysfunction across lens cellular barriers. We show that neutral amino acid antiporter LAT2 (Slc7a8) and
Externí odkaz:
https://doaj.org/article/0d94c545a0ee46fbbf4929482b25efc7
Autor:
Michel Michaelides, Angelos Kalitzeos, Nikolas Pontikos, Roy A. Quinlan, Vanita Berry, Alex Ionides
Publikováno v:
Ophthalmic Genetics, 2022, Vol.43(2), pp.218-223 [Peer Reviewed Journal]
Background: Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report disease-causing variants in a novel gene, CYP21A2, causing autosomal d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f03929d39c7b3706dc55a45e5412c8bb
https://doi.org/10.1080/13816810.2021.1998556
https://doi.org/10.1080/13816810.2021.1998556
Autor:
Alex Ionides, Anthony T. Moore, Nikolas Pontikos, Michel Michaelides, Vanita Berry, Roy A. Quinlan
Publikováno v:
Eye, 2022, Vol.36(8), pp.1694-1701 [Peer Reviewed Journal]
Eye (London, England), vol 36, iss 8
Eye (London, England), vol 36, iss 8
Background Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies. Methods Using whole exome s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a89eeb4dc872c5833e96928811e01b03
https://doi.org/10.1038/s41433-021-01711-x
https://doi.org/10.1038/s41433-021-01711-x
Autor:
Vanita, Berry, Kaoru, Fujinami, Kiyofumi, Mochizuki, Takeshi, Iwata, Nikolas, Pontikos, Roy A, Quinlan, Michel, Michaelides
Publikováno v:
Ophthalmic genetics. 43(5)
Genetically determined cataract is both clinically and molecularly highly heterogeneous. Here, we have identified a heterozygous variant in the lens integral membrane protein LIM2, the second most abundant protein in the lens, responsible for congeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f407ff3d5dd880c6c12074d860a7f29b
https://pubmed.ncbi.nlm.nih.gov/35736209
https://pubmed.ncbi.nlm.nih.gov/35736209
Autor:
Vanita, Berry, Nikolas, Pontikos, Alex, Ionides, Angelos, Kalitzeos, Roy A, Quinlan, Michel, Michaelides
Publikováno v:
Ophthalmic genetics. 43(2)
Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report disease-causing variants in a novel gene,Using whole-exome sequencing (WES), we ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c1cb77bcfa87c7dac337efb8b4952414
https://pubmed.ncbi.nlm.nih.gov/34748434
https://pubmed.ncbi.nlm.nih.gov/34748434
Autor:
Vanita, Berry, Alex, Ionides, Nikolas, Pontikos, Anthony T, Moore, Roy A, Quinlan, Michel, Michaelides
Publikováno v:
Eye (London, England). 36(8)
Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies.Using whole exome sequencing, we identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ed2ef2f14ac70ce6476ec6f7197ed364
https://pubmed.ncbi.nlm.nih.gov/34345029
https://pubmed.ncbi.nlm.nih.gov/34345029
Autor:
Vanita Berry, Alex Ionides, Nikolas Pontikos, Anthony T Moore, Roy A Quinlan, Michel Michaelides
Background: Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies.Methods: Using whole exome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3b070f54db510e53d57f7de470e6ed3
https://doi.org/10.21203/rs.3.rs-367664/v1
https://doi.org/10.21203/rs.3.rs-367664/v1
Autor:
Roy A. Quinlan, Nikolas Pontikos, Ismail Moghul, Michel Michaelides, Alex Ionides, Anthony T. Moore, Vanita Berry
Publikováno v:
Genes, vol 11, iss 5
Genes, Vol 11, Iss 512, p 512 (2020)
Genes
Volume 11
Issue 5
Genes, 2020, Vol.11(5), pp.512 [Peer Reviewed Journal]
Genes, Vol 11, Iss 512, p 512 (2020)
Genes
Volume 11
Issue 5
Genes, 2020, Vol.11(5), pp.512 [Peer Reviewed Journal]
Pediatric cataract is clinically and genetically heterogeneous and is the most common cause of childhood blindness worldwide. In this study, we aimed to identify disease-causing variants in three large British families and one isolated case with auto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b90c35afc76ba2b6fe0b782bd9d1b0f
https://escholarship.org/uc/item/3677x9xm
https://escholarship.org/uc/item/3677x9xm
Autor:
Vanita, Berry, Nikolas, Pontikos, Lubica, Dudakova, Anthony T, Moore, Roy, Quinlan, Petra, Liskova, Michel, Michaelides
Publikováno v:
Ophthalmic genetics. 41(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::696036d7b40185ddcd828e00a9519c45
https://pubmed.ncbi.nlm.nih.gov/32202185
https://pubmed.ncbi.nlm.nih.gov/32202185