Works matching AU Porter, Louise F.

Results: 13

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

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

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

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

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

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

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