Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Rachel Adihe Lokanga"'
Publikováno v:
iScience, Vol 27, Iss 2, Pp 108814- (2024)
Summary: A long CGG-repeat tract in the FMR1 gene induces the epigenetic silencing that causes fragile X syndrome (FXS). Epigenetic changes include H4K20 trimethylation, a heterochromatic modification frequently implicated in transcriptional silencin
Externí odkaz:
https://doaj.org/article/398907151c9f4a538caeef7f8c4c68d4
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The human genome has many chromosomal regions that are fragile, demonstrating chromatin breaks, gaps, or constrictions on exposure to replication stress. Common fragile sites (CFSs) are found widely distributed in the population, with the largest sub
Externí odkaz:
https://doaj.org/article/c01cda9b39404869ac608160912e73d4
Publikováno v:
PLoS Genetics, Vol 11, Iss 4, p e1005181 (2015)
The Fragile X-related disorders (FXDs) are members of the Repeat Expansion Diseases, a group of human genetic conditions resulting from expansion of a specific tandem repeat. The FXDs result from expansion of a CGG/CCG repeat tract in the 5' UTR of t
Externí odkaz:
https://doaj.org/article/65eb90b2d91f4cf59ff11e6e1dfc243a
Autor:
Karen eUsdin, Bruce Eliot Hayward, Daman eKumari, Rachel Adihe Lokanga, Nicolas eSciascia, Xiao-Nan eZhao
Publikováno v:
Frontiers in Genetics, Vol 5 (2014)
AbstractThe Fragile X-related disorders are a group of genetic conditions that include the neurodegenerative disorder, Fragile X-associated tremor and ataxia syndrome (FXTAS), the fertility disorder, Fragile X-associated primary ovarian insufficiency
Externí odkaz:
https://doaj.org/article/5e56660f6c0f490a90c0f3f10499d456
Autor:
Rachel Adihe Lokanga, B. Michael Ghadimi, Rüdiger Braun, Yuri Lazebnik, Jochen Gaedcke, Annette Lischka, Georg Emons, Daniela Hirsch, Daniel Bronder, Danny Wangsa, Sushant Patkar, Michael J. Difilippantonio, Darawalee Wangsa, Gert Auer, Jens K. Habermann, Eytan Ruppin, Markus Brown, Kerstin Heselmeyer-Haddad, Marian Grade, Wei Dong Chen, Thomas Ried, Yue Hu, Jordi Camps, Cristina Montagna, Noam Auslander
Publikováno v:
Genome Medicine
Genome Medicine, Vol 13, Iss 1, Pp 1-16 (2021)
Genome Medicine, Vol 13, Iss 1, Pp 1-16 (2021)
Background Many carcinomas have recurrent chromosomal aneuploidies specific to the tissue of tumor origin. The reason for this specificity is not completely understood. Methods In this study, we looked at the frequency of chromosomal arm gains and lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39c892460c2c9b407ead1e05d84f630b
http://europepmc.org/articles/PMC8147418
http://europepmc.org/articles/PMC8147418
Autor:
Rachel Adihe Lokanga, Jordi Camps, Annette Lischka, Yuri Lazebnik, Danny Wangsa, Cristina Montagna, Thomas Ried, B. Michael Ghadimi, Daniela Hirsch, Noam Auslander, Yue Hu, Michael J. Difilippantonio, Georg Emons, Darawalee Wangsa, Gert Auer, Jochen Gaedcke, Eytan Ruppin, Daniel Bronder, Sushant Patkar, Markus Brown, Wei Dong Chen, Kerstin Heselmeyer-Haddad, Jens K. Habermann, Marian Grade, Rüdiger Braun
SUMMARYMost carcinomas have characteristic chromosomal aneuploidies specific to the tissue of tumor origin. The reason for this specificity is unknown. As aneuploidies directly affect gene expression, we hypothesized that cancer-type specific aneuplo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c5d8e7da9d788ac0326cad84eec386d
https://doi.org/10.1101/563858
https://doi.org/10.1101/563858
Autor:
Rachel Adihe Lokanga, Ali Entezam, Karen Usdin, Daman Kumari, Mei Qin, Dmitry V. Yudkin, Carolyn Beebe Smith
Publikováno v:
Human Mutation. 34:157-166
Repeat expansion diseases result from expansion of a specific tandem repeat. The three fragile X-related disorders (FXDs) arise from germline expansions of a CGG•CCG repeat tract in the 5' UTR (untranslated region) of the fragile X mental retardati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c458d00e5081ed4340308f3252f3ac3b
https://doi.org/10.1002/humu.22177
https://doi.org/10.1002/humu.22177
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. 1819:802-810
The Fragile X-associated disorders (FXDs) and Friedreich ataxia (FRDA) are genetic conditions resulting from expansion of a trinucleotide repeat in a region of the affected gene that is transcribed but not translated. In the case of the FXDs, patholo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605de0891b44a827b7774cc786390395
https://doi.org/10.1016/j.bbagrm.2011.12.009
https://doi.org/10.1016/j.bbagrm.2011.12.009
Publikováno v:
PLoS Genetics
PLOS Genetics
PLoS Genetics, Vol 12, Iss 7, p e1006190 (2016)
PLOS Genetics
PLoS Genetics, Vol 12, Iss 7, p e1006190 (2016)
The fragile X-related disorders result from expansion of a CGG/CCG microsatellite in the 5’ UTR of the FMR1 gene. We have previously demonstrated that the MSH2/MSH3 complex, MutSβ, that is important for mismatch repair, is essential for almost all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca334f454e7bc5fcebf5bae6d3cc7310
https://pubmed.ncbi.nlm.nih.gov/27427765
https://pubmed.ncbi.nlm.nih.gov/27427765
The Fragile X-related disorders are X-linked disorders resulting from the inheritance of FMR1 alleles with >54 CGG/CCG repeats in their 5' UTR. The repeats expand both somatically and on intergenerational transmission and increased repeat numbers are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c1da84b17273c3e3f177a84c39b06be
https://europepmc.org/articles/PMC4140472/
https://europepmc.org/articles/PMC4140472/