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PERK/EIF2AK3 integrates endoplasmic reticulum stress-induced apoptosis, oxidative stress and autophagy responses in immortalised retinal pigment epithelial cells.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16909-6
By:
- Saptarshi, Neil;
- Porter, Louise F.;
- Paraoan, Luminita
Publication type:
Article
Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.
Published in:
Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0608-2
By:
- Porter, Louise F.;
- Saptarshi, Neil;
- Fang, Yongxiang;
- Rathi, Sonika;
- den Hollander, Anneke I.;
- de Jong, Eiko K.;
- Clark, Simon J.;
- Bishop, Paul N.;
- Olsen, Timothy W.;
- Liloglou, Triantafillos;
- Chavali, Venkata R. M.;
- Paraoan, Luminita
Publication type:
Article
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
Published in:
2015
By:
- Porter, Louise F.;
- Gallego-Pinazo, Roberto;
- Keeling, Catherine L.;
- Kamieniorz, Martyna;
- Zoppi, Nicoletta;
- Colombi, Marina;
- Giunta, Cecilia;
- Bonshek, Richard;
- Manson, Forbes D.;
- Black, Graeme C.
Publication type:
journal article
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-68
By:
- Burkitt Wright, Emma M. M.;
- Porter, Louise F.;
- Spencer, Helen L.;
- Clayton-Smith, Jill;
- Au, Leon;
- Munier, Francis L.;
- Smithson, Sarah;
- Suri, Mohnish;
- Rohrbach, Marianne;
- Manson, Forbes D. C.;
- Black, Graeme C. M.
Publication type:
Article
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Published in:
2013
By:
- Burkitt Wright, Emma Mm;
- Porter, Louise F;
- Spencer, Helen L;
- Clayton-Smith, Jill;
- Au, Leon;
- Munier, Francis L;
- Smithson, Sarah;
- Suri, Mohnish;
- Rohrbach, Marianne;
- Manson, Forbes Dc;
- Black, Graeme Cm;
- Burkitt Wright, Emma M M;
- Manson, Forbes D C;
- Black, Graeme C M
Publication type:
journal article
Epigenetic Age Acceleration Is Not Associated with Age-Related Macular Degeneration.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13457, doi. 10.3390/ijms222413457
By:
- Saptarshi, Neil;
- Green, Daniel;
- Cree, Angela;
- Lotery, Andrew;
- Paraoan, Luminita;
- Porter, Louise F.
Publication type:
Article
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
Published in:
Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2020, v. 164, n. 2, p. 183, doi. 10.5507/bp.2019.017
By:
- Skalicka, Pavlina;
- Porter, Louise F.;
- Brejchova, Kristyna;
- Malinka, Frantisek;
- Dudakova, Lubica;
- Liskova, Petra
Publication type:
Article
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55866-5
By:
- Khaled, Mariam Lofty;
- Bykhovskaya, Yelena;
- Gu, Chunfang;
- Liu, Alice;
- Drewry, Michelle D.;
- Chen, Zhong;
- Mysona, Barbara A.;
- Parker, Emily;
- McNabb, Ryan P.;
- Yu, Hongfang;
- Lu, Xiaowen;
- Wang, Jing;
- Li, Xiaohui;
- Al-Muammar, Abdulrahman;
- Rotter, Jerome I.;
- Porter, Louise F.;
- Estes, Amy;
- Watsky, Mitchell A.;
- Smith, Sylvia B.;
- Xu, Hongyan
Publication type:
Article
Presence of active myocarditis at the 6 month follow-up appointment for a severe form of COVID-19: a case report.
Published in:
2021
By:
- Meyer, Maxence;
- Vogel, Thomas;
- Meyer, Anita;
- Constancias, Florentin;
- Porter, Louise F.;
- Kaltenbach, Georges;
- Schmitt, Elise;
- Chayer, Saïd;
- Zeyons, Floriane;
- Riou, Marianne;
- Fafi-Kremer, Samira;
- Velay, Aurélie;
- Ghannudi, Soraya El
Publication type:
Case Study
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 23, p. 6565, doi. 10.1093/hmg/ddv345
By:
- Porter, Louise F.;
- Galli, Giorgio G.;
- Williamson, Sally;
- Selley, Julian;
- Knight, David;
- Elcioglu, Nursel;
- Aydin, Ali;
- Elcioglu, Mustafa;
- Venselaar, Hanka;
- Lund, Anders H.;
- Bonshek, Richard;
- Black, Graeme C.;
- Manson, Forbes D.
Publication type:
Article
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 20, p. 5527, doi. 10.1093/hmg/ddu253
By:
- Lechner, Judith;
- Porter, Louise F.;
- Rice, Aine;
- Vitart, Veronique;
- Armstrong, David J.;
- Schorderet, Daniel F.;
- Munier, Francis L.;
- Wright, Alan F.;
- Inglehearn, Chris F.;
- Black, Graeme C.;
- Simpson, David A.;
- Manson, Forbes;
- Willoughby, Colin E.
Publication type:
Article
Quantitative description of SARS‐CoV‐2 RT‐PCR, a cohort of 76 COVID‐19 older hospitalized adults.
Published in:
2021
By:
- Meyer, Maxence;
- Meyer, Anita;
- Calabrese, Lidia;
- Constancias, Florentin;
- Porter, Louise F.;
- Muller, Marion;
- Leitner, Manon;
- Leitner, Amandine;
- Michaud, Antonin;
- Boussuge, Alexandre;
- Kaltenbach, Georges;
- Schmitt, Elise;
- Karcher, Patrick;
- Sauleau, Erik;
- Chayer, Saïd;
- Blanc, Frédéric;
- Fafi‐Kremer, Samira;
- Velay, Aurélie;
- Vogel, Thomas
Publication type:
Letter to the Editor
Clinical and Virological Follow‐Up of a Cohort of 76 COVID‐19 Older Hospitalized Adults.
Published in:
2021
By:
- Meyer, Maxence;
- Calabrese, Lidia;
- Meyer, Anita;
- Constancias, Florentin;
- Porter, Louise F.;
- Muller, Marion;
- Leitner, Manon;
- Leitner, Amandine;
- Michaud, Antonin;
- Kaltenbach, Georges;
- Schmitt, Elise;
- Karcher, Patrick;
- Sauleau, Erik;
- Chayer, Saïd;
- Zeyons, Floriane;
- Riou, Marianne;
- Abdo, Soraya El Ghannudi;
- Blanc, Frédéric;
- Fafi‐Kremer, Samira;
- Velay, Aurélie
Publication type:
Letter to the Editor

Found: 13