Article
Ophthalmology
Zohra Chibani, Imen Zone Abid, Peter Soderkvist, Jamel Feki, Mounira Hmani Aifa
Summary: This study identified a novel SLC4A11 gene mutation associated with CHED and confirmed its pathogenicity. The mutation may lead to disruptions in osmolarity balance and structural rearrangements in the protein, providing more insights into genotype-phenotype correlations.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Ophthalmology
Diego G. Ogando, Rajalekshmy Shyam, Edward T. Kim, Yen-Chiao Wang, Chia-Yang Liu, Joseph A. Bonanno
Summary: The study successfully replicated the corneal edema phenotype of the conventional Slc4a11 KO model using an inducible KO model, validating its effectiveness and providing a tool for further research on the sequence of cellular events.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)
Review
Medicine, General & Internal
Tatiana Romanovna Tsedilina, Elena Sharova, Valeriia Iakovets, Liubov Olegovna Skorodumova
Summary: In this study, we conducted a systematic review to assess the pathogenicity of variants in TCF4, COL8A2, SLC4A11, ZEB1, LOXHD1, and AGBL1 in FECD. Our analysis confirmed the causal role of SLC4A11 variants in FECD, while the causal role of ZEB1, LOXHD1, and AGBL1 variants has not been confirmed. Further evidence, such as familial cases and functional analysis, is needed to confirm their roles in FECD.
FRONTIERS IN MEDICINE
(2023)
Article
Ophthalmology
Siyin Liu, Amanda N. Sadan, Kirithika Muthusamy, Christina Zarouchlioti, Jana Jedlickova, Nikolas Pontikos, Caroline Thaung, Alison J. Hardcastle, Magdalena Netukova, Pavlina Skalicka, Lubica Dudakova, Catey Bunce, Stephen J. Tuft, Alice E. Davidson, Petra Liskova
Summary: This study characterized the phenotype and genotype of patients with concurrent keratoconus and Fuchs endothelial corneal dystrophy (KC + FECD). The results showed that the phenotype of KC + FECD is similar to keratoconus but with added stromal swelling from endothelial disease. Among these patients, 35% had a TCF4 expansion, which was similar in proportion to age-matched controls with isolated FECD.
ACTA OPHTHALMOLOGICA
(2023)
Article
Medicine, General & Internal
Jens Julian Storp, Larissa Lahme, Sami Al-Nawaiseh, Nicole Eter, Maged Alnawaiseh
Summary: This study investigated the changes in corneal epithelial thickness before and after DMEK in FECD patients and compared them with a healthy control group. The results showed a significant decrease in corneal epithelial thickness after DMEK in FECD patients, reaching levels comparable to the healthy control group. This study emphasized the importance of distinguishing corneal layers in anterior segment pathologies and surgical procedures, as well as the structural alterations in FECD extending beyond the corneal stroma.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Afia Iqbal, Shagufta Naz, Haiba Kaul, Saima Sharif, Aysha Khushbakht, Muhammad Asif Naeem, Mehwish Iqtedar, Afshan Kaleem, Sabika Firasat, Farkhanda Manzoor
Summary: This study identifies three mutations in the SLC4A11 gene in consanguineous Pakistani families with Congenital Hereditary Endothelial Dystrophy (CHED). One of the mutations is reported for the first time in the Pakistani population, while the other two mutations have been previously reported. These mutations are deemed as probable cause of the underlying disease as they are consistent with the disease phenotype and identified as pathogenic by bioinformatics tools.
Article
Ophthalmology
Andreas Viberg, Ida Maria Westin, Irina Golovleva, Berit Bystrom
Summary: In northern Sweden, almost 90% of FECD patients have a (CTG)(n) repeat expansion in the TCF4 gene, with repeat length being associated with disease severity. Additionally, FECD cases without a TCF4 repeat expansion have a higher rate of ocular surgery compared to those with a repeat expansion.
ACTA OPHTHALMOLOGICA
(2022)
Article
Ophthalmology
Nicolas J. Heckenlaible, Chen Dun, Christina Prescott, Allen O. Eghrari, Fasika Woreta, Martin A. Makary, Divya Srikumaran
Summary: The study aimed to identify factors associated with the receipt of EK and PK in patients with FECD. The findings revealed that gender and racial background are important factors influencing the likelihood of receiving EK and PK.
Review
Ophthalmology
Stephan Ong Tone, Viridiana Kocaba, Myriam Bohm, Adam Wylegala, Tomas L. White, Ula V. Jurkunas
Summary: Fuchs endothelial corneal dystrophy (FECD) is the most common primary corneal endothelial dystrophy characterized by the decline of corneal endothelial cells and the formation of extracellular matrix excrescences, leading to corneal edema and loss of vision. It is a complex and heterogeneous genetic disease with a higher incidence in women, caused by a combination of genetic and environmental factors.
PROGRESS IN RETINAL AND EYE RESEARCH
(2021)
Article
Ophthalmology
Isabelle Xu, Mathieu Theriault, Isabelle Brunette, Patrick J. Rochette, Stephanie Proulx
Summary: This study investigated the MMPs and TIMPs profile in FECD, revealing a decrease in MMP-2 and MMP-10 among FECD samples and overall decreased MMPs/TIMPs ratio in FECD cell populations. The analysis also showed differences in MMPs and TIMPs expression between different cell morphologies in both FECD and healthy CECs.
EXPERIMENTAL EYE RESEARCH
(2021)
Article
Ophthalmology
Hanielle Vaitinadapoule, Sylvain Poinard, Zhiguo He, Alina Pascale-Hamri, Justin Thomas, Philippe Gain, Jean-Yves Thuret, Frederic Mascarelli, Gilles Thuret
Summary: This study investigated the interest of using chromatic confocal microscopy (CCM) to characterize guttae in Fuchs endothelial corneal dystrophy (FECD). The results showed that CCM can be an innovative approach to describe and quantify different morphologies of guttae, which could be useful for analyzing different stages of FECD and defining subgroups of patients.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Medicine, General & Internal
Charlotte Maffre, Pierre Fournie, Eve Durbant, Carl Arndt, Zoubir Djerada, Alexandre Denoyer
Summary: This study aimed to identify the predictive factors for visual recovery after Descemet membrane endothelial keratoplasty (DMEK) in Fuchs' dystrophy (FECD) patients. The results showed that preoperative retinal status was the main factor predicting long-term visual outcome. This information can assist in informing patients about prognosis and adjusting therapeutic strategies, highlighting the collaboration between cornea and retina subspecialists.
FRONTIERS IN MEDICINE
(2023)
Article
Ophthalmology
Michal Blau-Most, Adi Levy, Ehud I. Assia, Guy Kleinmann
Summary: This study aimed to evaluate the outcomes of toric IOL implantation in patients with Fuchs endothelial corneal dystrophy (FECD). The results showed no significant difference in visual acuity and refractive error between FECD patients and healthy control patients. Therefore, FECD patients without corneal edema can be considered for toric IOLs.
OPHTHALMOLOGY AND THERAPY
(2023)
Article
Ophthalmology
Agathe Hribek, Thomas Clahsen, Jens Horstmann, Sebastian Siebelmann, Niklas Loreck, Ludwig M. Heindl, Bjorn O. Bachmann, Claus Cursiefen, Mario Matthaei
Summary: This study aimed to assess the correlation of CEC density with alterations of collagen composition of DM in FECD patients. The presence of a geographic pattern fibrillar layer in DEC was unveiled, which can be imaged by slit-lamp biomicroscopy, and the CEC density in the fibrillar layer region significantly decreased.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Ophthalmology
Cari W. Nealon, Christopher R. Halladay, Bryan Gorman, Piana P. Simpson, David L. Roncone, Rachael A. Canania, Scott R. Anthony, Lea N. Sawicki Rogers, Jenna M. Leber, Jacquelyn N. Dougherty, Jessica C. Cooke Bailey, Dana M. Crawford, Jack Sullivan, Anat Galor, Wen-Chih B. Wu, Paul H. Greenberg, Sudha K. Million Vet Program, Jonathan S. Lass, Sudha Iyengar, Neal Peachey
Summary: The aim of this study was to assess the risk factors associated with Fuchs endothelial corneal dystrophy (FECD), including demographic variables and other health conditions. Data from the Department of VA Million Veteran Program cohort were used to develop a FECD case-control algorithm and analyze the association with risk factors. The study found that being a FECD case was associated with female sex, European genetic ancestry, and a greater number of comorbidities, as well as specific diagnostic codes and laboratory values, including diabetes mellitus (DM).
Article
Biochemistry & Molecular Biology
Chloe L. Rapp, Jing Li, Katherine E. Badior, David B. Williams, Joseph R. Casey, Reinhart A. F. Reithmeier
BIOCHEMISTRY AND CELL BIOLOGY
(2019)
Article
Biochemistry & Molecular Biology
Linda S. Forero-Quintero, Samantha Ames, Hans-Peter Schneider, Anne Thyssen, Christopher D. Boone, Jacob T. Andring, Robert McKenna, Joseph R. Casey, Joachim W. Deitmer, Holger M. Becker
JOURNAL OF BIOLOGICAL CHEMISTRY
(2019)
Article
Multidisciplinary Sciences
Darpan Malhotra, Sampath K. Loganathan, Anthony M. Chiu, Chris M. Lukowski, Joseph R. Casey
SCIENTIFIC REPORTS
(2019)
Article
Biochemistry & Molecular Biology
Darpan Malhotra, Martin Jung, Claudia Fecher-Trost, Matthew Lovatt, Gary S. L. Peh, Sergei Noskov, Jodhbir S. Mehta, Richard Zimmermann, Joseph R. Casey
HUMAN MOLECULAR GENETICS
(2020)
Article
Multidisciplinary Sciences
Sampath K. Loganathan, Krista Schleicher, Ahmad Malik, Rene Quevedo, Ellen Langille, Katie Teng, Robin H. Oh, Bhavisha Rathod, Ricky Tsai, Payman Samavarchi-Tehrani, Trevor J. Pugh, Anne-Claude Gingras, Daniel Schramek
Article
Pharmacology & Pharmacy
Gurnit Kaur, Warda Javed, Olena Ponomarenko, Kamran Shekh, Diane P. Swanlund, Janet R. Zhou, Kelly L. Summers, Angela Casini, Margot N. Wenzel, Joseph R. Casey, Emmanuelle Cordat, Ingrid J. Pickering, Graham N. George, Elaine M. Leslie
BIOCHEMICAL PHARMACOLOGY
(2020)
Article
Biochemistry & Molecular Biology
Katherine E. Badior, Joseph R. Casey
Summary: Band 3, the predominant protein in erythrocyte membranes, undergoes significant conformational dynamics between intracellular and extracellular regions, potentially playing a crucial role in erythrocyte aging.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
(2021)
Article
Multidisciplinary Sciences
Bernardo Alvarez, Marilyse Piche, Carolin Aizouki, Fariha Rahman, Jonathan M. J. Derry, Isabelle Brunette, Joseph R. Casey
Summary: SLC4A11 is a protein involved in transport of H+/NH3/water in corneal endothelial cells. Mutations in SLC4A11 can cause corneal diseases. Research has shown that SLC4A11 plays key roles in ion homeostasis, energy metabolism, cell adhesion, and cytoskeletal organization.
SCIENTIFIC REPORTS
(2021)
Letter
Oncology
Nicole L. Michmerhuizen, Caitlin Heenan, Jiayu Wang, Elizabeth Leonard, Emily Bellile, Sampath K. Loganathan, Sunny Y. Wong, Yu L. Lei, J. Chad Brenner
Article
Multidisciplinary Sciences
Connor Yanchus, Kristen L. Drucker, Thomas M. Kollmeyer, Ricky Tsai, Warren Winick-Ng, Minggao Liang, Ahmad Malik, Judy Pawling, Silvana B. De Lorenzo, Asma Ali, Paul A. Decker, Matt L. Kosel, Arijit Panda, Khalid N. Al-Zahrani, Lingyan Jiang, Jared W. L. Browning, Chris Lowden, Michael Geuenich, J. Javier Hernandez, Jessica T. Gosio, Musaddeque Ahmed Section, Sampath Kumar Loganathan Paragraph, Jacob Berman, Daniel Trcka, Kulandaimanuvel Antony Michealraj, Jerome Fortin, Brittany Carson, Ethan W. Hollingsworth, Sandra Jacinto, Parisa Mazrooei, Lily Zhou, Andrew Elia, Mathieu Lupien, Housheng Hansen He, Daniel J. Murphy, Liguo Wang, Alexej Abyzov, James W. Dennis, Philipp G. Maass, Kieran Campbell, Michael D. Wilson, Daniel H. Lachance, Margaret Wrensch, John Wiencke, Tak Mak, Len A. Pennacchio, Diane E. Dickel Section Section, Axel Visel, Jeffrey Wrana, Michael D. Taylor, Gelareh Zadeh, Peter Dirks, Jeanette E. Eckel-Passow, Liliana Attisano, Ana Pombo, Cristiane M. Ida, Evgeny Z. Kvon, Robert B. Jenkins, Daniel Schramek
Summary: This study reveals the causal relationship between the single-nucleotide polymorphism rs55705857 and the increased risk of low-grade glioma (LGG). The research also identifies the molecular pathways associated with this polymorphism. The risk allele disrupts the binding of OCT2/4 and increases the expression of Myc. In a mouse model, mutating the rs55705857 locus accelerates tumor development and increases disease penetrance.
Article
Oncology
Yue Yan, Marc-Andre Gauthier, Ahmad Malik, Iosifina Fotiadou, Michael Ostrovski, Dzana Dervovic, Logine Ghadban, Ricky Tsai, Gerald Gish, Sampath Kumar Loganathan, Daniel Schramek
Summary: The aim of this study is to understand the signaling mechanisms of RIPK4 in SCCs. Through gene profiling and targeted CRISPR screening, we identified ELOVL4 as a downstream target of RIPK4. Our data from in vitro and in vivo mouse experiments show that the NOTCH-RIPK4-IRF6-ELOVL4 signaling axis functions as a potent tumor suppressor in SCCs.
Article
Oncology
Ana Vujovic, Laura de Rooij, Ava Keyvani Chahi, He Tian Chen, Brian A. Yee, Sampath K. Loganathan, Lina Liu, Derek C. H. Chan, Amanda Tajik, Emily Tsao, Steven Moreira, Pratik Joshi, Joshua Xu, Nicholas Wong, Zaldy Balde, Soheil Jahangiri, Sasan Zandi, Stefan Aigner, John E. Dick, Mark D. Minden, Daniel Schramek, Gene W. Yeo, Kristin J. Hope
Summary: Acute myeloid leukemia (AML) is driven by leukemic stem cells (LSC) and identifying the determinants of LSCs is challenging. This study identified a group of RNA-binding proteins (RBPs) enriched in human AML LSCs. Through a stem cell-adapted CRISPR screen, they found 32 essential RBPs for LSCs and discovered that ELAVL1, an RBP, plays a crucial role in AML propagation by regulating mitochondrial metabolism. These findings highlight the importance of RBPs as therapeutic targets in AML.
BLOOD CANCER DISCOVERY
(2023)
Meeting Abstract
Ophthalmology
Pascale Charpentier, Mathieu Theriault, Joseph R. Casey, Stephanie Proulx
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Multidisciplinary Sciences
Sampath Kumar Loganathan, Ahmad Malik, Ellen Langille, Chen Luxenburg, Daniel Schramek
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2020)