Association of the carriage of BRD2 rs206787 and rs516535 and GJD2 rs3743123 polymorphisms with juvenile myoclonic epilepsy in Caucasian patients of Siberia

Autor: O. S. Shilkina, N. A. Shnayder, S. N. Zobova, D. V. Dmitrenko, P. V. Moskaleva

Publikováno v: Неврология, нейропсихиатрия, психосоматика, Vol 11, Iss 4, Pp 61-67 (2019)

In recent years, the genetics of juvenile myoclonic epilepsy (JME) has been actively studied; the association of JME with the carriage of polymorphic allelic variants of the BRD2 (EJM3 locus) and GJD2 (EJM2 locus) genes has been established. Objectiv

Externí odkaz: https://doaj.org/article/86afdaf43ba54047b038788bd8232555

Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania

Autor: Edita Kunceviciene, Margarita Sriubiene, Rasa Liutkeviciene, Ilona T. Miceikiene, Alina Smalinskiene

Publikováno v: BMC Ophthalmology, Vol 18, Iss 1, Pp 1-6 (2018)

Abstract Background This study aimed to assess heritability of myopia in Lithuania and evaluate both genes GJD2 (Gap Junction Protein, Delta 2) and RASGRF1 (RAS protein-specific guanine nucleotide-releasing factor 1) relation with myopia. Methods In

Externí odkaz: https://doaj.org/article/36627cebbbe24547853c0ef44a935f5f

Phenotypic consequences of the GJD2 risk genotype in myopia development

Autor: Hein Raat, Virginie J. M. Verhoeven, Annette Geerards, Jan E.E. Keunen, Camiel J. F. Boon, Jan Roelof Polling, Gregorius P M Luyten, Gwyneth A van Rijn, Annechien E. G. Haarman, Milly S. Tedja, J. Willem L. Tideman, Janine F. Felix, Clair A. Enthoven, Caroline C W Klaver

Publikováno v: Investigative Ophthalmology and Visual Science, 62(10). Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 62, 10
Investigative Ophthalmology & Visual Science, 62(10). ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology and Visual Science, 62

Item does not contain fulltext PURPOSE: To study the relatively high effect of the refractive error gene GJD2 in human myopia, and to assess its relationship with refractive error, ocular biometry and lifestyle in various age groups. METHODS: The pop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20fb0731d1f2fcc437ddb98e3c97a74
https://pure.amc.nl/en/publications/phenotypic-consequences-of-the-gjd2-risk-genotype-in-myopia-development(c7eb82b3-65ac-4962-9d03-42959f501401).html

Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors

Autor: Edita Kunceviciene, Tomas Muskieta, Margarita Sriubiene, Rasa Liutkeviciene, Alina Smalinskiene, Ingrida Grabauskyte, Ruta Insodaite, Dovile Juoceviciute, Laimutis Kucinskas

Publikováno v: Genes; Volume 13; Issue 7; Pages: 1166

Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b72fca865675fbb9b3db8f11ab743b
https://doi.org/10.3390/genes13071166

Extensive GJD2 Expression in the Song Motor Pathway Reveals the Extent of Electrical Synapses in the Songbird Brain

Autor: Santhosh Totagera, Carolina Frankl-Vilches, Benedikt Grothe, Stefan Leitner, Manfred Gahr, Nina Sohnius-Wilhelmi, Pepe Alcami

Publikováno v: Biology, Vol 10, Iss 1099, p 1099 (2021)
Biology
Volume 10
Issue 11

Simple Summary Electrical synapses are ubiquitous in nervous systems, where they coordinate the activity of neural networks in time. However, their role in the execution and learning of complex behaviors remains unknown. Electrical synapses have rema

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c6a154e4c7983e6e8cd9d823d329a2
https://doi.org/10.3390/biology10111099