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Wyszukujesz frazę ""Fragile X Syndrome"" wg kryterium: Temat


Tytuł:
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Autorzy:
Muffels, Irena J.J. (AUTHOR)
Schene, Imre F. (AUTHOR)
Rehmann, Holger (AUTHOR)
Massink, Maarten P.G. (AUTHOR)
van der Wal, Maria M. (AUTHOR)
Bauder, Corinna (AUTHOR)
Labeur, Martha (AUTHOR)
Armando, Natalia G. (AUTHOR)
Lequin, Maarten H. (AUTHOR)
Houben, Michiel L. (AUTHOR)
Giltay, Jaques C. (AUTHOR)
Haitjema, Saskia (AUTHOR)
Huisman, Albert (AUTHOR)
Vansenne, Fleur (AUTHOR)
Bluvstein, Judith (AUTHOR)
Pappas, John (AUTHOR)
Shailee, Lala V. (AUTHOR)
Zarate, Yuri A. (AUTHOR)
Mokry, Michal (AUTHOR)
van Haaften, Gijs W. (AUTHOR)
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Źródło:
American Journal of Human Genetics. Jan2023, Vol. 110 Issue 1, p146-160. 15p.
Czasopismo naukowe
Tytuł:
Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development.
Autorzy:
Shen, Minjie (AUTHOR)
Sirois, Carissa L. (AUTHOR)
Guo, Yu (AUTHOR)
Li, Meng (AUTHOR)
Dong, Qiping (AUTHOR)
Méndez-Albelo, Natasha M. (AUTHOR)
Gao, Yu (AUTHOR)
Khullar, Saniya (AUTHOR)
Kissel, Lee (AUTHOR)
Sandoval, Soraya O. (AUTHOR)
Wolkoff, Natalie E. (AUTHOR)
Huang, Sabrina X. (AUTHOR)
Xu, Zhiyan (AUTHOR)
Bryan, Jonathan E. (AUTHOR)
Contractor, Amaya M. (AUTHOR)
Korabelnikov, Tomer (AUTHOR)
Glass, Ian A. (AUTHOR)
Doherty, Dan (AUTHOR)
Levine, Jon E. (AUTHOR)
Sousa, André M.M. (AUTHOR)
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Źródło:
Neuron. Dec2023, Vol. 111 Issue 24, p3988-3988. 1p.
Czasopismo naukowe
Tytuł:
Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome.
Autorzy:
Malachowski, Thomas (AUTHOR)
Chandradoss, Keerthivasan Raanin (AUTHOR)
Boya, Ravi (AUTHOR)
Zhou, Linda (AUTHOR)
Cook, Ashley L. (AUTHOR)
Su, Chuanbin (AUTHOR)
Pham, Kenneth (AUTHOR)
Haws, Spencer A. (AUTHOR)
Kim, Ji Hun (AUTHOR)
Ryu, Han-Seul (AUTHOR)
Ge, Chunmin (AUTHOR)
Luppino, Jennifer M. (AUTHOR)
Nguyen, Son C. (AUTHOR)
Titus, Katelyn R. (AUTHOR)
Gong, Wanfeng (AUTHOR)
Wallace, Owen (AUTHOR)
Joyce, Eric F. (AUTHOR)
Wu, Hao (AUTHOR)
Rojas, Luis Alejandro (AUTHOR)
Phillips-Cremins, Jennifer E. (AUTHOR)
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Źródło:
Cell. Dec2023, Vol. 186 Issue 26, p5840-5840. 1p.
Czasopismo naukowe
Tytuł:
FMRP phosphorylation modulates neuronal translation through YTHDF1.
Autorzy:
Zou, Zhongyu (AUTHOR)
Wei, Jiangbo (AUTHOR)
Chen, Yantao (AUTHOR)
Kang, Yunhee (AUTHOR)
Shi, Hailing (AUTHOR)
Yang, Fan (AUTHOR)
Shi, Zhuoyue (AUTHOR)
Chen, Shijie (AUTHOR)
Zhou, Ying (AUTHOR)
Sepich-Poore, Caraline (AUTHOR)
Zhuang, Xiaoxi (AUTHOR)
Zhou, Xiaoming (AUTHOR)
Jiang, Hualiang (AUTHOR)
Wen, Zhexing (AUTHOR)
Jin, Peng (AUTHOR)
Luo, Cheng (AUTHOR)
He, Chuan (AUTHOR)
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Źródło:
Molecular Cell. Dec2023, Vol. 83 Issue 23, p4304-4304. 1p.
Czasopismo naukowe
Tytuł:
Excitatory neuron-specific suppression of the integrated stress response contributes to autism-related phenotypes in fragile X syndrome.
Autorzy:
Hooshmandi, Mehdi (AUTHOR)
Sharma, Vijendra (AUTHOR)
Thörn Perez, Carolina (AUTHOR)
Sood, Rapita (AUTHOR)
Krimbacher, Konstanze (AUTHOR)
Wong, Calvin (AUTHOR)
Lister, Kevin C. (AUTHOR)
Ureña Guzmán, Alba (AUTHOR)
Bartley, Trevor D. (AUTHOR)
Rocha, Cecilia (AUTHOR)
Maussion, Gilles (AUTHOR)
Nadler, Emma (AUTHOR)
Roque, Patricia Margarita (AUTHOR)
Gantois, Ilse (AUTHOR)
Popic, Jelena (AUTHOR)
Lévesque, Maxime (AUTHOR)
Kaufman, Randal J. (AUTHOR)
Avoli, Massimo (AUTHOR)
Sanz, Elisenda (AUTHOR)
Nader, Karim (AUTHOR)
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Źródło:
Neuron. Oct2023, Vol. 111 Issue 19, p3028-3028. 1p.
Czasopismo naukowe
Tytuł:
Improvement of sensory deficits in fragile X mice by increasing cortical interneuron activity after the critical period.
Autorzy:
Kourdougli, Nazim (AUTHOR)
Suresh, Anand (AUTHOR)
Liu, Benjamin (AUTHOR)
Juarez, Pablo (AUTHOR)
Lin, Ashley (AUTHOR)
Chung, David T. (AUTHOR)
Graven Sams, Anette (AUTHOR)
Gandal, Michael J. (AUTHOR)
Martínez-Cerdeño, Verónica (AUTHOR)
Buonomano, Dean V. (AUTHOR)
Hall, Benjamin J. (AUTHOR)
Mombereau, Cédric (AUTHOR)
Portera-Cailliau, Carlos (AUTHOR)
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Źródło:
Neuron. Sep2023, Vol. 111 Issue 18, p2863-2863. 1p.
Czasopismo naukowe
Tytuł:
Altered striatal actin dynamics drives behavioral inflexibility in a mouse model of fragile X syndrome.
Autorzy:
Mercaldo, Valentina (AUTHOR)
Vidimova, Barbora (AUTHOR)
Gastaldo, Denise (AUTHOR)
Fernández, Esperanza (AUTHOR)
Lo, Adrian C. (AUTHOR)
Cencelli, Giulia (AUTHOR)
Pedini, Giorgia (AUTHOR)
De Rubeis, Silvia (AUTHOR)
Longo, Francesco (AUTHOR)
Klann, Eric (AUTHOR)
Smit, August B. (AUTHOR)
Grant, Seth G.N. (AUTHOR)
Achsel, Tilmann (AUTHOR)
Bagni, Claudia (AUTHOR)
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Źródło:
Neuron. Jun2023, Vol. 111 Issue 11, p1760-1760. 1p.
Czasopismo naukowe
Tytuł:
Excessive proteostasis contributes to pathology in fragile X syndrome.
Autorzy:
Louros, Susana R. (AUTHOR)
Seo, Sang S. (AUTHOR)
Maio, Beatriz (AUTHOR)
Martinez-Gonzalez, Cristina (AUTHOR)
Gonzalez-Lozano, Miguel A. (AUTHOR)
Muscas, Melania (AUTHOR)
Verity, Nick C. (AUTHOR)
Wills, Jimi C. (AUTHOR)
Li, Ka Wan (AUTHOR)
Nolan, Matthew F. (AUTHOR)
Osterweil, Emily K. (AUTHOR)
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Źródło:
Neuron. Feb2023, Vol. 111 Issue 4, p508-508. 1p.
Czasopismo naukowe
Tytuł:
BREACHing new grounds in fragile X syndrome: Trinucleotide expansion linked to genome-wide heterochromatin domains and genome misfolding.
Autorzy:
Schulz, Edda G. (AUTHOR)
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Źródło:
Molecular Cell. Feb2024, Vol. 84 Issue 3, p413-414. 2p.
Czasopismo naukowe
Tytuł:
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Autorzy:
Hijazi, Hadia (AUTHOR)
Reis, Linda M. (AUTHOR)
Pehlivan, Davut (AUTHOR)
Bernstein, Jonathan A. (AUTHOR)
Muriello, Michael (AUTHOR)
Syverson, Erin (AUTHOR)
Bonner, Devon (AUTHOR)
Estiar, Mehrdad A. (AUTHOR)
Gan-Or, Ziv (AUTHOR)
Rouleau, Guy A. (AUTHOR)
Lyulcheva, Ekaterina (AUTHOR)
Greenhalgh, Lynn (AUTHOR)
Tessarech, Marine (AUTHOR)
Colin, Estelle (AUTHOR)
Guichet, Agnès (AUTHOR)
Bonneau, Dominique (AUTHOR)
van Jaarsveld, R.H. (AUTHOR)
Lachmeijer, A.M.A. (AUTHOR)
Ruaud, Lyse (AUTHOR)
Levy, Jonathan (AUTHOR)
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Źródło:
American Journal of Human Genetics. Dec2022, Vol. 109 Issue 12, p2270-2282. 13p.
Czasopismo naukowe
Tytuł:
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Autorzy:
Huang, Yan (AUTHOR)
Lemire, Gabrielle (AUTHOR)
Briere, Lauren C. (AUTHOR)
Liu, Fang (AUTHOR)
Wessels, Marja W. (AUTHOR)
Wang, Xueqi (AUTHOR)
Osmond, Matthew (AUTHOR)
Kanca, Oguz (AUTHOR)
Lu, Shenzhao (AUTHOR)
High, Frances A. (AUTHOR)
Walker, Melissa A. (AUTHOR)
Rodan, Lance H. (AUTHOR)
Kernohan, Kristin D. (AUTHOR)
Sweetser, David A. (AUTHOR)
Boycott, Kym M. (AUTHOR)
Bellen, Hugo J. (AUTHOR)
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Źródło:
American Journal of Human Genetics. Oct2022, Vol. 109 Issue 10, p1923-1931. 9p.
Czasopismo naukowe
Tytuł:
Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome.
Autorzy:
Pasciuto, Emanuela
Ahmed, Tariq
Wahle, Tina
Gardoni, Fabrizio
D’Andrea, Laura
Pacini, Laura
Jacquemont, Sébastien
Tassone, Flora
Balschun, Detlef
Dotti, Carlos G.
Callaerts-Vegh, Zsuzsanna
D’Hooge, Rudi
Müller, Ulrike C.
Di Luca, Monica
De Strooper, Bart
Bagni, Claudia
Pokaż więcej
Źródło:
Neuron. Jul2015, Vol. 87 Issue 2, p382-398. 17p.
Czasopismo naukowe

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