Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Victoria Serzhanova"'
Autor:
Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina
Publikováno v:
BMC Nephrology, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carri
Externí odkaz:
https://doaj.org/article/5f9219c6abe147369c8d32e14aeaa2dc
Publikováno v:
European Journal of Medical Genetics. 65:104421
EIF2S3 pathogenic variants have been shown to cause MEHMO syndrome - a rare X-linked intellectual disability syndrome. In most cases, DNA diagnostics of MEHMO syndrome is performed using exome sequencing. We describe two cousins with profound intelle
Autor:
Larisa Prikhodina, Lambert P. van den Heuvel, Mikhail Skoblov, Svetlana Papizh, Victoria Serzhanova, Elena Levtchenko, Alexandra Filatova, Vyacheslav Tabakov
Publikováno v:
BMC Nephrology
BMC Nephrology, Vol 20, Iss 1, Pp 1-6 (2019)
BMC Nephrology, Vol 20, Iss 1, Pp 1-6 (2019)
BackgroundCystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in theCTNSgene that encodes the lysosomal cystine carrier protein c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f6231c3b94d7e4fab365aee82ebc71c
https://lirias.kuleuven.be/handle/123456789/646324
https://lirias.kuleuven.be/handle/123456789/646324
Publikováno v:
Drug Discovery Today: Disease Mechanisms. 10:e135-e142
The primary cilium is a well-established target in the pathogenesis of numerous developmental and chronic disorders, and more recently is attracting interest as a structure relevant to cancer. Here we discuss mechanisms by which changes in cilia can
Autor:
AA Klein-Szanto, Victoria Serzhanova, Sachiko Seo, Brian L. Egleston, Eugene Izumchenko, Mineo Kurokawa, Erica A. Golemis, Joy L. Little
Publikováno v:
Cancer Research. 72:P1-05
The Neural precursor cell-Expressed Developmentally Downregulated gene 9 (NEDD9; also HEF1, CAS-L) scaffolding protein regulates many signaling pathways associated with mitosis, survival, migration, and ciliary integrity. Within the last few years, e
Autor:
Victoria Serzhanova, Andres J. Klein-Szanto, Igor Bogush, Anna S. Nikonova, Olga V. Plotnikova, Andrey Efimov, Erica A. Golemis, Kathy Q. Cai, Brian L. Egleston, Tamina Seeger-Nukpezah, Harvey Hensley
Mutations inactivating the cilia-localized Pkd1 protein result in autosomal dominant polycystic kidney disease (ADPKD), a serious inherited syndrome affecting ∼ 1 in 500 people, in which accumulation of renal cysts eventually destroys kidney functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4da0056dd7147be2276b6a78f5c9b8f
https://europepmc.org/articles/PMC4156736/
https://europepmc.org/articles/PMC4156736/
Autor:
Maria Shubina, Victoria Serzhanova, Mineo Kurokawa, Sachiko Seo, Brian L. Egleston, Joy L. Little, Grace Loudon, Andres J. Klein-Szanto, Eugene Izumchenko, Michael F. Ochs, Erica A. Golemis, Erica Parise
Publikováno v:
Oncogene. 33(4)
Overexpression of the NEDD9/HEF1/Cas-L scaffolding protein is frequent, and drives invasion and metastasis in breast, head and neck, colorectal, melanoma, lung and other types of cancer. We have examined the consequences of genetic ablation of Nedd9