Article
Genetics & Heredity
Maria Nieves-Moreno, Susana Noval, Jesus Peralta, Maria Palomares-Bralo, Angela del Pozo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Elena Vallespin
Summary: Congenital aniridia is a complex ocular disorder caused by mutations in the PAX6 gene, leading to variable clinical manifestations and challenging genotype-phenotype correlations. Patients with confirmed PAX6 mutations exhibit a range of symptoms, highlighting the importance of genetic testing for accurate diagnosis and the need for clinicians to be aware of mild aniridia phenotypes.
Article
Ophthalmology
Idan Hecht, Chen Weiner, Alina Kotlyar, Nadav Shoshany, Eran Pras
Summary: This article investigates a five-generation family with autosomal dominant congenital motor nystagmus (CMN) and identifies a new deletion associated with the disease. The deletion affects the expression of NR5A2 and MIR181A genes, suggesting a possible mechanism for the pathogenesis of CMN.
EXPERIMENTAL EYE RESEARCH
(2023)
Article
Ophthalmology
Alejandra Daruich, Matthieu P. Robert, Camille Leroy, Nathalie de Vergnes, Caroline Beugnet, Valerie Malan, Sophie Valleix, Dominique Bremond-Gignac
Summary: This study aimed to investigate the correlation between the degree of foveal hypoplasia in congenital aniridia and visual acuity, iris phenotype, and PAX6 mutations. Through analysis of imaging and genetic data, it was found that PAX6 gene mutations were associated with severe foveal hypoplasia, while deletions restricted to the 3rd regulatory region of PAX6 may result in better visual prognosis. The degree of foveal hypoplasia was found to be correlated with the severity of iris defects.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Keren Oved, Lea Zennaro, Orly Dorot, Johanna Zerbib, Elie Frank, Lauriane N. Roux, Edward Pichinuk, Daniel Aberdam, Dominique Bremond-Gignac
Summary: The study showed that Ritanserin could activate PAX6 production through a specific signaling pathway, potentially providing a new therapeutic approach for rescuing symptoms related to aniridia and restoring eyesight for patients.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Endocrinology & Metabolism
Wei Tian, Xiao-Rong Zhu, Chun-Yan Qiao, Ying-Nan Ma, Fang-Yuan Yang, Zhen Zhou, Jian-Ping Feng, Ran Sun, Rong-Rong Xie, Jing Lu, Xi Cao, Jian-Bo Zhou, Jin-Kui Yang
Summary: The study suggests that PAX6 mutations may play a role in proinsulin production and insulin secretion, with significantly higher levels of proinsulin observed in CA patients compared to controls.
Article
Ophthalmology
Tianwei Qian, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen, Xun Xu
Summary: This study identified a genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus. Through comprehensive ophthalmic examinations and genome sequencing, a novel deletion in the PAX6 gene associated with the disease was detected, expanding the understanding of genetic defects linked to congenital aniridia.
Article
Genetics & Heredity
Tatyana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Vitaly V. Kadyshev, Natella V. Sukhanova, Marina E. Minzhenkova, Nadezhda V. Shilova, Alla A. Latyshova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Summary: This study investigates the distribution and genetic characteristics of PAX6-associated congenital aniridia (AN) and WAGR syndrome in different districts of Russian Federation. The study identifies novel PAX6 pathogenic variants and chromosome rearrangements in a cohort of 379 AN patients, contributing to international databases. The findings provide important insight into the epidemiology and genetic spectrum of AN in Russia.
Article
Ophthalmology
Orly Dorot, Lauriane N. Roux, Lea Zennaro, Keren Oved, Dominique Bremond-Gignac, Edward Pichinuk, Daniel Aberdam
Summary: The study found that Duloxetine can enhance PAX6 activity and restore normal function of limbal cells in patients with aniridia-related keratopathy, and activates PAX6 expression by inhibiting the ERK pathway. This discovery is of great importance for the development of topical treatment drugs for aniridia.
Article
Genetics & Heredity
Lijuan Huang, Jiajia Peng, Yan Xie, Yunyu Zhou, Xiaolin Wang, Hui Wang, Jingang Gui, Ningdong Li
Summary: This study aims to describe the diversity of clinical features caused by PAX6 pathogenic variants in Han Chinese patients. Genetic testing identified 20 pathogenic variations, 12 of which were previously reported and 8 were novel. The clinical phenotypes varied among patients, even those with the same variants. Genetic testing is helpful for differential diagnosis.
FRONTIERS IN GENETICS
(2023)
Article
Medicine, General & Internal
Ruru Guo, Xiaotian Zhang, Aihua Liu, Jian Ji, Wei Liu
Summary: This study explores the clinical manifestations and genetic defects of families with congenital aniridia. Through whole exome sequencing and Sanger sequencing, recurrent mutations and a novel mutation of the PAX6 gene were identified. Additionally, spontaneous anterior lens capsule rupture was observed in patients with aniridia for the first time.
FRONTIERS IN MEDICINE
(2022)
Article
Genetics & Heredity
Alexandra Y. Filatova, Tatyana A. Vasilyeva, Andrey V. Marakhonov, Natella V. Sukhanova, Anna A. Voskresenskaya, Rena A. Zinchenko, Mikhail Y. Skoblov
Summary: The study revealed that PAX6 5'UTR variants can decrease protein translation efficiency, affect splicing, and extend uORF which reduces translation efficiency, suggesting it may be the main mechanism underlying most PAX6 5'UTR variants.
Article
Biochemistry & Molecular Biology
Lorenz Latta, Igor Knebel, Constanze Bleil, Tanja Stachon, Priya Katiyar, Claire Zussy, Fabian Norbert Fries, Barbara Kaesmann-Kellner, Berthold Seitz, Nora Szentmary
Summary: This study aimed to investigate the impact of retinol derivatives on human LEC differentiation and its potential influence on the development of aniridia-associated keratopathy. The findings suggest that the use of retinol derivatives can affect the expression levels of certain transcripts in corneal LEC, providing insights into the altered expression of differentiation markers observed in LEC of PAX6-aniridia patients.
Article
Biochemistry & Molecular Biology
Andrey V. Marakhonov, Tatyana A. Vasilyeva, Marina E. Minzhenkova, Natella V. Sukhanova, Peter A. Sparber, Natalya A. Andreeva, Margarita V. Teleshova, Fatima K. -M. Baybagisova, Nadezhda V. Shilova, Sergey I. Kutsev, Rena A. Zinchenko, Janusz Blasiak
Summary: In this case report, a patient with WAGR syndrome is clinically and molecularly confirmed through comprehensive genetic testing and in-depth studies of the molecular mechanisms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Tatyana A. Vasilyeva, Natella V. Sukhanova, Andrey V. Marakhonov, Natalia Yu. Kuzina, Nadezhda V. Shilova, Vitaly V. Kadyshev, Sergey I. Kutsev, Rena A. Zinchenko
Summary: This study presents a clinical case of a young girl with the unique co-occurrence of congenital aniridia and Down syndrome, analyzing the combined impact of these conditions on the patient's phenotype. Genetic analysis revealed trisomy 21 and a pathogenic variant in the PAX6 gene, providing valuable insights into the molecular pathogenetic mechanisms underlying each condition. This case underscores the importance of considering interactions between different genetic disorders in clinical assessments and treatment planning.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Ophthalmology
Junyi Ouyang, Ziyan Cai, Yinjie Guo, Fen Nie, Mengdan Cao, Xuanchu Duan
Summary: A novel PAX6 frameshift heterozygous deletion variant was identified as the predominant cause of aniridia in this Chinese family. The patients also exhibited cataracts, glaucoma, high myopia, and foveal hypoplasia.
Article
Genetics & Heredity
S. A. Yatsenko, H. A. Bakos, K. Vitullo, M. Kedrov, A. Kishore, B. J. Jennings, U. Surti, M. A. Wood-Trageser, S. Cercone, A. N. Yatsenko, A. Rajkovic, A. Iannaccone
Review
Ophthalmology
Debra A. Thompson, Robin R. Ali, Eyal Banin, Kari E. Branham, John G. Flannery, David M. Gamm, William W. Hauswirth, John R. Heckenlively, Alessandro Iannaccone, K. Thiran Jayasundera, Naheed W. Khan, Robert S. Molday, Mark E. Pennesi, Thomas A. Reh, Richard G. Weleber, David N. Zacks
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2015)
Article
Clinical Neurology
D. Angus, C. Herd, C. Stone, J. Stout, M. Wieler, R. Reilmann, C. W. Ritchie, E. R. Dorsey, K. Helles, E. Kayson, D. Oakes, H. D. Rosas, C. Vaughan, P. K. Panegyres, D. Ames, A. Goh, P. Agarwal, A. Churchyard, M. Murathodizic, P. Chua, D. Germaine, L. Lim, H. Mack, C. Loy, J. Griffith, P. Mitchell, J. Corey-Bloom, S. Gluhm, J. Goldstein, L. Levi, R. Margolis, N. Yoritomo, S. Janicki, K. Marder, R. Clouse, C. Singer, H. Moore, N. Padron, S. Kostyk, A. Daley, V. Segro, R. Kumar, K. Anderson, C. Drazinic, B. Hennig, M. Nance, E. Molho, S. Criswell, M. S. LeDoux, S. Guyot, A. Iannaccone, B. Jennings, B. R. Leavitt, A. Feigin, S. Evans, S. Wray, C. Casaceli, C. Orme, S. Gao, A. Watts, K. Baker, I. Labuschagne, M. El-Dairi, S. Fekrat, S. Hersch, M. Moscovitch-Lopatin, R. Tanzi, S. Targum
Article
Genetics & Heredity
Justin Wilkin, Natalie C. Kerr, Kathryn W. Byrd, Jewell C. Ward, Alessandro Iannaccone
OPHTHALMIC GENETICS
(2016)
Article
Ophthalmology
Amir H. Hariri, Hong Yang Zhang, Alexander Ho, Peter Francis, Richard G. Weleber, David G. Birch, Frederick L. Ferris, SriniVas R. Sadda
JAMA OPHTHALMOLOGY
(2016)
Article
Biochemistry & Molecular Biology
Xiaodong Jiao, Anren Li, Zi-Bing Jin, Xinjing Wang, Alessandro Iannaccone, Elias I. Traboulsi, Michael B. Gorin, Francesca Simonelli, J. Fielding Hejtmancik
EUROPEAN JOURNAL OF HUMAN GENETICS
(2017)
Article
Ophthalmology
Alessandro Iannaccone, T. J. Hollingsworth, Diwa Koirala, David D. New, Nataliya I. Lenchik, Sarka Beranova-Giorgianni, Ivan C. Gerling, Marko Z. Radic, Francesco Giorgianni
EXPERIMENTAL EYE RESEARCH
(2017)
Article
Geriatrics & Gerontology
Rohini Vishwanathan, Alessandro Iannaccone, Tammy M. Scott, Stephen B. Kritchevsky, Barbara J. Jennings, Giovannella Carboni, Gina Forma, Suzanne Satterfield, Tamara Harris, Karen C. Johnson, Wolfgang Schalch, Lisa M. Renzi, Caterina Rosano, Elizabeth J. Johnson
Article
Multidisciplinary Sciences
Xunda Luo, Artur V. Cideciyan, Alessandro Iannaccone, Alejandro J. Roman, Lauren C. Ditta, Barbara J. Jennings, Svetlana A. Yatsenko, Rebecca Sheplock, Alexander Sumaroka, Malgorzata Swider, Sharon B. Schwartz, Bernd Wissinger, Susanne Kohl, Samuel G. Jacobson
Article
Multidisciplinary Sciences
Alessandro Iannaccone, Francesco Giorgianni, David D. New, T. J. Hollingsworth, Allison Umfress, Albert H. Alhatem, Indira Neeli, Nataliya I. Lenchik, Barbara J. Jennings, Jorge I. Calzada, Suzanne Satterfield, Dennis Mathews, Rocio I. Diaz, Tamara Harris, Karen C. Johnson, Steve Charles, Stephen B. Kritchevsky, Ivan C. Gerling, Sarka Beranova-Giorgianni, Marko Z. Radic
Article
Multidisciplinary Sciences
Travis B. Smith, Maria Parker, Peter N. Steinkamp, Richard G. Weleber, Ning Smith, David J. Wilson
Article
Biotechnology & Applied Microbiology
Angela Lucariello, Angelica Perna, Carmine Sellitto, Alfonso Baldi, Alessandro Iannaccone, Luigi Cobellis, Antonio De Luca, Maria De Falco
BIOMED RESEARCH INTERNATIONAL
(2014)
Article
Medicine, General & Internal
Alessandro Iannaccone, Emily Brabbit, Christiaan Lopez-Miro, Zoe Love, Victoria Griffiths, Marina Kedrov, Neena B. Haider
Summary: The study compares human and mouse NR2E3-related diseases through SD-OCT imaging, revealing similarities between the two. Results validate the slow progression of NR2E3-associated diseases in humans and mice, highlighting SD-OCT characteristics associated with better preserved S-cone mediated retinal function.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Pathology
Vivian P. Douglas, Konstantinos A. A. Douglas, Alessandro Iannaccone
Summary: Inherited retinal degenerations (IRDs) are a group of progressive and genetically heterogeneous disorders that can cause irreversible visual loss. The exact pathogenic mechanisms of these diseases are not fully understood, but understanding them can lead to new treatment targets. Changes in the gut microbiome play a key role in the pathogenesis of ocular and nonocular diseases. This review presents the current knowledge of the gut microbiome in IRDs and discusses its association with the pathogenesis of these diseases, particularly its contribution to the inflammatory underpinnings of IRDs.
AMERICAN JOURNAL OF PATHOLOGY
(2023)