Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Martin W, Breuss"'
Autor:
Rose M. Doss, Martin W. Breuss
Publikováno v:
PLoS Biology, Vol 22, Iss 8 (2024)
Externí odkaz:
https://doaj.org/article/24be6c789d2c488eba20d51d51e540c5
Autor:
Martin W Breuss, Xiaoxu Yang, Valentina Stanley, Jennifer McEvoy-Venneri, Xin Xu, Arlene J Morales, Joseph G Gleeson
Publikováno v:
eLife, Vol 11 (2022)
Background: De novo mutations underlie individually rare but collectively common pediatric congenital disorders. Some of these mutations can also be detected in tissues and from cells in a parent, where their abundance and tissue distribution can be
Externí odkaz:
https://doaj.org/article/a0d6f2ed506248a5a93f2658dc5e9b24
Autor:
Camila A. B. Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel L. Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Ursula Thomé, Marcelo V. Santos, Fabiano P. Saggioro, Luciano Neder Serafini, Wilson A. Silva Jr, Joseph G. Gleeson, Hélio R. Machado
Publikováno v:
Epilepsia Open, Vol 5, Iss 1, Pp 97-106 (2020)
Abstract Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular funct
Externí odkaz:
https://doaj.org/article/1f3c6d7b09ea410daa70db74d4bc3c11
Autor:
Xiaoxu Yang, Martin W Breuss, Valentina Stanley, Jennifer McEvoy-Venneri, Xin Xu, Arlene J Morales, Joseph G Gleeson
Publikováno v:
eLife. 11
Background:De novo mutations underlie individually rare but collectively common pediatric congenital disorders. Some of these mutations can also be detected in tissues and from cells in a parent, where their abundance and tissue distribution can be m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d7f101a597227991db900e7f4c8f7f3
https://doi.org/10.7554/elife.78459
https://doi.org/10.7554/elife.78459
Autor:
Martin W. Breuss, Xiaoxu Yang, Valentina Stanley, Jennifer McEvoy-Venneri, Xin Xu, Arlene J. Morales, Joseph G. Gleeson
De novo mutations underlie individually rare but collectively common pediatric congenital disorders. Some of these mutations can also be detected in tissues and from cells in a parent, where their abundance and tissue distribution can be measured. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::795440bf388422530bfcaf42863d04ce
https://doi.org/10.1101/2022.03.28.486034
https://doi.org/10.1101/2022.03.28.486034
Autor:
Kiely N. James, Fabiano Pinto Saggioro, Camila Araújo Bernardino Garcia, Renee D. George, Xiaoxu Yang, Martin W. Breuss, Ursula Thomé, Laurel L. Ball, Wilson A. Silva, Luciano Neder Serafini, Marcelo Volpon Santos, Simone da Costa e Silva Carvalho, Hélio Rubens Machado, Joseph G. Gleeson, Valentina Stanley
Publikováno v:
Epilepsia Open, Vol 5, Iss 1, Pp 97-106 (2020)
Epilepsia Open
Epilepsia open, vol 5, iss 1
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Epilepsia Open
Epilepsia open, vol 5, iss 1
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular functions such
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::365f908cbf0b47c448b854402572e43a
https://doaj.org/article/1f3c6d7b09ea410daa70db74d4bc3c11
https://doaj.org/article/1f3c6d7b09ea410daa70db74d4bc3c11
Autor:
Xin Xu, Valentina Stanley, Jonathan Sebat, Xiaoxu Yang, Martin W. Breuss, Joseph G. Gleeson, Yan Ding, Beibei Cao, Jennifer McEvoy-Venneri, Renee D. George, An Nguyen, Lucitia Van Der Kraan, Sara A. Wirth, Guoliang Chai, Danny Antaki, Laurel L. Ball, Kiely N. James, Shareef Nahas
Publikováno v:
Cell, vol 184, iss 18
Cell
Cell
Throughout development and aging, human cells accumulate mutations, resulting in genomic mosaicism and genetic diversity at the cellular level. Mosaic mutations present in the gonads can affect both the individualand the offspring and subsequent gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a82cfc98b34f2feea42bf21572c8200f
https://escholarship.org/uc/item/32m300jj
https://escholarship.org/uc/item/32m300jj
Publikováno v:
Trends Genet
Trends in genetics : TIG, vol 37, iss 10
Trends in genetics : TIG, vol 37, iss 10
While sperm mosaicism has few consequences for men, the offspring and future generations are unwitting recipients of gonadal cell mutations, often yielding severe disease. Recent studies, fueled by emergent technologies, show that sperm mosaicism is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6e7d9f266fb9e9dec1ee7e733bf1d44
https://pubmed.ncbi.nlm.nih.gov/34158173
https://pubmed.ncbi.nlm.nih.gov/34158173
Autor:
Colin A. Johnson, Valentina Stanley, Chen Li, Alexander Neumann, Mohamed S. Abdel-Hamid, Eamonn Sheridan, Arnout P. Kalverda, Elizabeth M. A. Valleley, Ghayda Mirzaa, Patrick M. Gaffney, Heidi L. Rehm, Paula Anzenberg, Danny Antaki, Iain W. Manfield, Alice Webb, Brian H.Y. Chung, Sherif F. Abdel‐Ghafar, Grace E. VanNoy, Nhi Lang, Guoliang Chai, Lynn Pais, David A. Parry, David T. Bonthron, Clare V. Logan, Mandy H.Y. Tsang, Sangmoon Lee, Joseph G. Gleeson, Alysia Kern Lovgren, Maha S. Zaki, Klaas J. Wierenga, Trevor Marshall, Xiaoxu Yang, Martin W. Breuss, Patricia A. Jennings, Mahmoud Y. Issa, Jullianne Diaz, Eyby Leon
Publikováno v:
Neuron, vol 109, iss 2
Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ef24cf589c2884c763b071aada9b96f
https://eprints.whiterose.ac.uk/168429/1/Neuron_19_01905_R1.pdf
https://eprints.whiterose.ac.uk/168429/1/Neuron_19_01905_R1.pdf