Scientific literature

Photo of open books in a public libraryIn this section we offer references to academic monographic studies and to medical articles already published in scientific journals, listed in reverse chronological order.
When available, you will also find the abstract and/or the link to the original articles.
Please consider that this list is not intended to be exhaustive

Analysis of genotype-phenotype correlations in PAX6-associated aniridia

Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Käsmann-Kellner B, Sukhanova NV, Katargina LA, Kutsev SI, Zinchenko RA.
J Med Genet. 2021 Apr;58(4):270-274. Epub 2020 May 28. PMID: 32467297
http://dx.doi.org/10.1136/jmedgenet-2019-106172

Morphometric analysis of the lens in human aniridia and mouse Small eye

Voskresenskaya A, Pozdeyeva N, Batkov Y, Vasilyeva T, Marakhonov A, West RA, Caplan JL, Cvekl A, Wang Y, Duncan MK.
Exp Eye Res. 2021 Feb;203:108371. doi: 10.1016/j.exer.2020.108371. Epub 2020 Nov 26. PMID: 33248069; PMCID: PMC7867623.
https://doi.org/10.1016/j.exer.2020.108371

Formulation and Stability of Ataluren Eye Drop Oily Solution for Aniridia

Djayet C, Bremond-Gignac D, Touchard J, Secretan PH, Vidal F, Robert MP, Daruich A, Cisternino S, Schlatter J.
Pharmaceutics. 2020 Dec 22;13(1):E7.
doi: https://doi.org/10.3390/pharmaceutics13010007
PMID: 33375041.

Gene dosage manipulation alleviates manifestations of hereditary PAX6 haploinsufficiency in mice

Behnam Rabiee, Khandaker N. Anwar, Xiang Shen, Ilham Putra, Mingna Liu, Rebecca Jung, Neda Afsharkhamseh, Mark I. Rosenblatt, Gerald A. Fishman, Xiaorong Liu, Mahmood Ghassemi, Ali R. Djalilian
Science Translational Medicine 09 Dec 2020 Vol. 12, Issue 573, eaaz4894
https://doi.org/10.1126/scitranslmed.aaz4894

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

Vasilyeva TA, Marakhonov AV, Minzhenkova ME, Markova ZG, Petrova NV, Sukhanova NV, Koshkin PA, Pyankov DV, Kanivets IV, Korostelev SA, Krynskaya IA, Shilova NV, Kutsev SI, Kadyshev VV, Zinchenko RA.
BMC Med Genomics. 2020 Sep 18;13(Suppl 8):130. doi: 10.1186/s12920-020-00790-1. PMID: 32948199; PMCID: PMC7499969.
https://doi.org/10.1186/s12920-020-00790-1

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome

Vasilyeva TA, Marakhonov AV, Sukhanova NV, Kutsev SI, Zinchenko RA.
Genes (Basel). 2020 Jul 17;11(7):812. doi: 10.3390/genes11070812. PMID: 32708836; PMCID: PMC7397088.
https://doi.org/10.3390/genes11070812

Global and age-related neuroanatomical abnormalities in a Pax6-deficient mouse model of aniridia suggests a role for Pax6 in adult structural neuroplasticity

Madison K.Grant, Anastasia M.Bobilev, Ashley M.Rasys, J.Branson Byers, Hannah C. Schriever, Khan Hekmatyar, James D.Lauderdale
Brain Research Volume 1732, 1 April 2020, 146698
https://doi.org/10.1016/j.brainres.2020.146698

Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations

Lagali N, Wowra B, Fries FN, Latta L, Moslemani K, Utheim TP, Wylegala E, Seitz B, Käsmann-Kellner B
Ocul Surf. 2020 Jan;18(1):130-140. doi: 10.1016/j.jtos.2019.11.002. Epub 2019 Nov 14.
https://www.ncbi.nlm.nih.gov/pubmed/31734509

Aniridia with PAX6 mutations and narcolepsy

Berntsson SG, Kristoffersson A, Daniilidou M, Dahl N, Ekström C, Semnic R, Markström A, Niemelä V, Partinen M, Hallböök F, Landtblom AM
J Sleep Res. 2020 Jan 14:e12982. doi: 10.1111/jsr.12982.
https://www.ncbi.nlm.nih.gov/pubmed/31943460

LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome

Marakhonov AV, Vasilyeva TA, Voskresenskaya AA, Sukhanova NV, Kadyshev VV, Kutsev SI, Zinchenko RA.
Hum Mol Genet. 2019 Oct 1;28(19):3323-3326. doi: 10.1093/hmg/ddz168. PMID: 31304537.
https://doi.org/10.1093/hmg/ddz168

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

by Dulce Lima Cunha, Gavin Arno, Marta Corton and Mariya Moosajee
Genes 2019, 10(12), 1050; https://doi.org/10.3390/genes10121050
https://www.mdpi.com/2073-4425/10/12/1050

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay

Filatova AY, Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Zinchenko RA, Skoblov MY.
Eur J Hum Genet. 2019 Mar;27(3):488-493. doi: 10.1038/s41431-018-0288-y. Epub 2018 Oct 12. PMID: 30315214; PMCID: PMC6460560.
https://doi.org/10.1038/s41431-018-0288-y

The genetics of congenital aniridia – a guide for the ophthalmologist

Erlend S. Landsend, Øygunn A. Utheim, Hilde R. Pedersen, Neil Lagali, Rigmor C. Baraas, Tor P. Utheim
Surv Ophthalmol. 2018 Jan – Feb;63(1):105-113. doi: 10.1016/j.survophthal.2017.09.004. Epub 2017 Sep 18.
http://www.sciencedirect.com/science/article/pii/S0039625717301303

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations

Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA.
Clin Genet. 2017 Dec;92(6):639-644. doi: 10.1111/cge.13019. Epub 2017 Aug 2. PMID: 28321846.
https://doi.org/10.1111/cge.13019

Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy

Voskresenskaya A, Pozdeyeva N, Vasilyeva T, Batkov Y, Shipunov A, Gagloev B, Zinchenko R.
Ocul Surf. 2017 Oct;15(4):759-769. doi: 10.1016/j.jtos.2017.07.001. Epub 2017 Jul 8. PMID: 28698011.
https://doi.org/10.1016/j.jtos.2017.07.001

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, et al.
Published: February 23, 2017  PLoS ONE 12(2): e0172363.
https://doi.org/10.1371/journal.pone.0172363

A CGH array procedure to detect PAX6 gene structural defects

Franzoni A, Dello Russo P, Baldan F, D’Elia AV, Puppin C, Penco S, Damante G
Mol Cell Probes. 2016 Dec 2. PII: S0890-8508(16)30117-7. DOI: 10.1016/j.mcp.2016.12.001
http://www.sciencedirect.com/science/article/pii/S0890850816301177

Book coverAniridia: Recent Developments in Scientific and Clinical Research, Springer International 2015.

Editors: Stefano Ferrari, Mohit Parekh, Barbara Poli, Diego Ponzin, Corrado Teofili
ISBN-13: 978-3319197784 – ISBN-10: 3319197789
http://www.springer.com/us/book/9783319197784
Table of Contents (pdf)

Aniridia Guides and Aniridia-Syndrome (PAX6-Syndrome)

B. Käsmann-Kellner, A. Viestenz, B. Seitz
Редакция | 2015, PM Ophthalmology. Part 1. Aniridia, Practical medicine 02 (15) Ophthalmology. Part 1 | Апрель 17, 2015
http://en.pmarchive.ru/aniridia-guides-and-aniridia-syndrome-pax6-syndrome/

Aniridia

Melanie Hingorani, MA, MBBS, MD, FRCOphth and Anthony Moore, MA, MBBS, FRCS, FRCOphth.
Initial Posting: May 20, 2003; Last Update: November 14, 2013.
https://www.ncbi.nlm.nih.gov/books/NBK1360/

Aniridia

Hingorani M, Hanson I, van Heyningen V.
Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13.
https://www.ncbi.nlm.nih.gov/pubmed/22692063

Ocular and systemic findings in a survey of aniridia subjects

Netland PA, Scott ML, Boyle JW 4th, Lauderdale JD.
J AAPOS. 2011 Dec;15(6):562-6. doi: 10.1016/j.jaapos.2011.07.009.
https://www.ncbi.nlm.nih.gov/pubmed/22153401

Autologous Serum Eyedrops in the Treatment of Aniridic Keratopathy

J. S. López-García, MD, PhD, L. Rivas, PhD, I. García-Lozano, MD, J. Murube, MD, PhD
Ophthalmology 2008;115:262–267 © 2008 by the American Academy of Ophthalmology
https://www.ncbi.nlm.nih.gov/pubmed/17675158

Epidemiology of aniridia in Sweden and Norway

Ulla Eden, C. Beijar, R.Riise and K.Tornqvist
Acta Ophtalmologica, vol. 86, issue 7, pages 727–729, November 2008 © 2008 The Authors
http://onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2008.01309.x/abstract

Aniridia among children and teenagers in Sweden and Norway

Ulla Eden, C. Beijar, R.Riise and K.Tornqvist
Acta Ophtalmologica, vol. 86, issue 7, pages 730–734, November 2008 © 2008 The Authors
http://onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2009.01530.x/full

Long-term visual prognosis of corneal and ocular surface surgery in patients with congenital aniridia

María Fideliz de la Paz, Juan Alvarez de Toledo, Rafael Ignacio Barraquer, Joaquín Barraquer
Acta Ophtalmologica, vol. 86, issue 7, pages 735–740, November 2008 © 2008 The Authors
http://onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2008.01293.x/abstract

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations

Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM.
Arch Pediatr Adolesc Med. 2007 May;161(5):463-9
https://www.ncbi.nlm.nih.gov/pubmed/17485622