Involvement of GLCCI1 in mouse spermatogenesis

Autor: Masaru Takada, Daisuke Fukuhara, Toshihiko Takiura, Yukino Nishibori, Masashi Kotani, Zentaro Kiuchi, Akihiko Kudo, Olga Beltcheva, Noriko Ito‐Nitta, Kazuhiro R. Nitta, Toru Kimura, Jun‐Ichi Suehiro, Tomohisa Katada, Hiromu Takematsu, Kunimasa Yan

Publikováno v: The FASEB Journal. 37

Spermatid production is a complex regulatory process in which coordination between hormonal control and apoptosis plays a pivotal role in maintaining a balanced number of sperm cells. Apoptosis in spermatogenesis is controlled by pro-apoptotic and an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb8299bb7ca3bf0ce65c76611277c236
https://doi.org/10.1096/fj.202101667rr

Steroid-resistant nephrotic syndrome caused by novel WT1 mutation inherited from a mosaic parent

Autor: Anelia Boueva, Radka Kaneva, Vanio Mitev, Svetlana Marinova, Reni Tzveova, Dimitar Roussinov, Olga Beltcheva

Publikováno v: Renal Failure. 38:290-293

Steroid-resistant nephrotic syndrome (SRNS) is a severe childhood disorder frequently progressing toward renal failure. Among its genetic causes are mutations in the Wilms tumor gene, WT1, which codes for a transcription factor with key role for the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a733438e1248557bb506b16f2eff60c5
https://doi.org/10.3109/0886022x.2015.1117906

Genetic and Epidemiological Indications for Adiponectin Gene Dysregulation in Gestational Diabetes Mellitus

Autor: Vanio Mitev, Maria Boyadzhieva, Olga Beltcheva, Radka Kaneva

Publikováno v: Nutrition and Diet in Maternal Diabetes ISBN: 9783319564388

Adiponectin, a regulatory protein produced and secreted by the adipose tissue, has a profound effect on the energy homeostasis. Its involvement in carbohydrate and lipid metabolism has placed this adipokine in the center of attention of researchers w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0e5acc0dc3b476c3bf5a579893444bf1
https://doi.org/10.1007/978-3-319-56440-1_11

A familial case of severe infantile nephronophthisis explained by oligogenic inheritance

Autor: Violeta Dimitrova, Reni Tzveova, Dimitar Roussinov, Vanio Mitev, Olga Beltcheva, Anelia Boueva, Radka Kaneva, Valentin Penchev, Mariya Ivanova, Ivo Kremensky, Kunka Kamenarova

Publikováno v: European journal of medical genetics. 60(6)

Renal cysts are common malformation during the prenatal and postnatal period and frequent cause of chronic kidney or ESRD. More than 70 genes have been shown to play role in their pathology. Part of them are responsible for the structure and function

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17fe2f8f677cf12cf1fe4e812458ea24
https://pubmed.ncbi.nlm.nih.gov/28392475

Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts

Autor: Matt McGue, Susanne Lucae, Judy A. Andrews, Howard J. Edenberg, Mary Jeanne Kreek, Norbert Dahmen, David Huizinga, Wolfgang Gaebel, Nancy L. Saccone, Andrew W. Bergen, Elaine C. Johnstone, Tamara L. Wall, Michael Steffens, Robert B. Weiss, Monika Ridinger, Eric O. Johnson, Tae Hwi Schwantes-An, Laura J. Bierut, Ina Giegling, Grant W. Montgomery, Ming T. Tsuang, Noora Rouvinen-Lagerström, Andrew C. Heath, Pamela A. F. Madden, Momchil Nikolov, Per Hoffmann, Josef Frank, John I. Nurnberger, Michael Soyka, Jens Treutlein, Norbert Wodarz, Helen M. Kamens, Sirkku T. Saarikoski, Elliot C. Nelson, Timo Partonen, Kenneth S. Kendler, Alexandre A. Todorov, Henry R. Kranzler, Michael M. Vanyukov, Leena Kovanen, Mark W. Reid, Paul Aveyard, Denise Nishita, Gary E. Swan, Kenneth Krauter, Falk Kiefer, Maureen Reynolds, Robert Culverhouse, Michael C. Stallings, Whitney E. Melroy, Richard J. Rose, Christian J. Hopfer, Bao-Zhu Yang, Alec Roy, David Goldman, Michael C. Neale, Michael F. Murphy, Christine Schmäl, Tatiana Foroud, Joel Gelernter, Dan Rujescu, Hilary Coon, Juan Zhang, Marissa A. Ehringer, Richard A. Grucza, Stephen J. Glatt, Bertram Müller-Myhsok, Annette M. Hartmann, Robert A. Philibert, Antti Latvala, Peter Zill, Stefan Herms, Bettina Konte, Norbert Scherbaum, Michael T. Lynskey, John K. Hewitt, Colin A. Hodgkinson, Ivo Kremensky, Vadim Yuferov, Marcus R. Munafò, William G. Iacono, Olga Beltcheva, Sandra A. Brown, Sven Cichon, Marcus Ising, Jaakko Kaprio, Manuel Mattheisen, Sarah M. Hartz, Karl Mann, Michele L. Pergadia, Li-Shiun Chen, Jason D. Robinson, Pei Hong Shen, Hyman Hops, Dale S. Cannon, Jingchun Chen, Radka Kaneva, Nicholas G. Martin, Wolfgang Maier, Xiangning Chen, Louisa Degenhardt, Brion S. Maher, Lisa N. Legrand, Robin P. Corley, Paul M. Cinciripini, Jill Hardin, Robert E. Ferrell, Marcella Rietschel, Markus M. Nöthen, Orna Levran

Publikováno v: Europe PubMed Central
Schwantes-An, T-H, Zhang, J, Chen, L-S, Hartz, S M, Culverhouse, R C, Chen, X, Coon, H, Frank, J, Kamens, H M, Konte, B, Kovanen, L, Latvala, A, Legrand, L N, Maher, B S, Melroy, W E, Nelson, E C, Reid, M W, Robinson, J D, Shen, P-H, Yang, B-Z, Andrews, J A, Aveyard, P, Beltcheva, O, Brown, S A, Cannon, D S, Cichon, S, Corley, R P, Dahmen, N, Degenhardt, L, Foroud, T, Gaebel, W, Giegling, I, Glatt, S J, Grucza, R A, Hardin, J, Hartmann, A M, Heath, A C, Herms, S, Hodgkinson, C A, Hoffmann, P, Hops, H, Huizinga, D, Ising, M, Johnson, E O, Johnstone, E, Kaneva, R P, Kendler, K S, Kiefer, F, Kranzler, H R, Krauter, K S, Levran, O, Lucae, S, Lynskey, M T, Maier, W, Mann, K, Martin, N G, Mattheisen, M, Montgomery, G W, Müller-Myhsok, B, Murphy, M F, Neale, M C, Nikolov, M A, Nishita, D, Nöthen, M M, Nurnberger, J, Partonen, T, Pergadia, M L, Reynolds, M, Ridinger, M, Rose, R J, Rouvinen-Lagerström, N, Scherbaum, N, Schmäl, C, Soyka, M, Stallings, M C, Steffens, M, Treutlein, J, Tsuang, M, Wall, T L, Wodarz, N, Yuferov, V, Zill, P, Bergen, A W, Chen, J, Cinciripini, P M, Edenberg, H J, Ehringer, M A, Ferrell, R E, Gelernter, J, Goldman, D, Hewitt, J K, Hopfer, C J, Iacono, W G, Kaprio, J, Kreek, M J, Kremensky, I M, Madden, P A F, McGue, M, Munafò, M R, Philibert, R A, Rietschel, M, Roy, A, Rujescu, D, Saarikoski, S T, Swan, G E, Todorov, A A, Vanyukov, M M, Weiss, R B, Bierut, L J & Saccone, N L 2016, ' Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts ', Behavior Genetics, vol. 46, no. 2, pp. 151–169 . https://doi.org/10.1007/s10519-015-9737-3
Schwantes-An, T-H, Zhang, J, Chen, L-S, Hartz, S M, Culverhouse, R C, Chen, X, Coon, H, Frank, J, Kamens, H M, Konte, B, Kovanen, L, Latvala, A, Legrand, L N, Maher, B S, Melroy, W E, Nelson, E C, Reid, M W, Robinson, J D, Shen, P-H, Yang, B-Z, Andrews, J A, Aveyard, P, Beltcheva, O, Brown, S A, Cannon, D S, Cichon, S, Corley, R P, Dahmen, N, Degenhardt, L, Foroud, T, Gaebel, W, Giegling, I, Glatt, S J, Grucza, R A, Hardin, J, Hartmann, A M, Heath, A C, Herms, S, Hodgkinson, C A, Hoffmann, P, Hops, H, Huizinga, D, Ising, M, Johnson, E O, Johnstone, E, Kaneva, R P, Kendler, K S, Kiefer, F, Kranzler, H R, Krauter, K S, Levran, O, Lucae, S, Lynskey, M T, Maier, W, Mann, K, Martin, N G, Mattheisen, M, Montgomery, G W, Müller-Myhsok, B, Murphy, M F, Neale, M C, Nikolov, M A, Nishita, D, Nöthen, M M, Nurnberger, J, Partonen, T, Pergadia, M L, Reynolds, M, Ridinger, M, Rose, R J, Rouvinen-Lagerström, N, Scherbaum, N, Schmäl, C, Soyka, M, Stallings, M C, Steffens, M, Treutlein, J, Tsuang, M, Wall, T L, Wodarz, N, Yuferov, V, Zill, P, Bergen, A W, Chen, J, Cinciripini, P M, Edenberg, H J, Ehringer, M A, Ferrell, R E, Gelernter, J, Goldman, D, Hewitt, J K, Hopfer, C J, Iacono, W G, Kaprio, J, Kreek, M J, Kremensky, I M, Madden, P A F, McGue, M, Munafò, M R, Philibert, R A, Rietschel, M, Roy, A, Rujescu, D, Saarikoski, S T, Swan, G E, Todorov, A A, Vanyukov, M M, Weiss, R B, Bierut, L J & Saccone, N L 2016, ' Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts ', Behavior Genetics, vol. 46, no. 2, pp. 151-169 . https://doi.org/10.1007/s10519-015-9737-3

The mu1 opioid receptor gene, OPRM1, has long been a high-priority candidate for human genetic studies of addiction. Because of its potential functional significance, the non-synonymous variant rs1799971 (A118G, Asn40Asp) in OPRM1 has been extensivel

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https://pubmed.ncbi.nlm.nih.gov/26392368