Results 1 to 10 of about 63,146 (103)

15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease [PDF]

Neurosciences (Riyadh), 2022
15q11.2 BP1-BP2 microdeletion is related to clinical abnormalities including general developmental delay, speech and neuropsychiatric disorders, which is known as Angelman syndrome.
Sha Q, Xia Y, Shen X, Du A.
europepmc   +2 more sources

4E-BP1 counteracts human mesenchymal stem cell senescence via maintaining mitochondrial homeostasis

Protein & Cell, 2022
Although the mTOR-4E-BP1 signaling pathway is implicated in aging and aging-related disorders, the role of 4E-BP1 in regulating human stem cell homeostasis remains largely unknown.
Yifang He, Qianzhao Ji, Zeming Wu, Yusheng Cai, Jian Yin, Yiyuan Zhang, Sheng Zhang, Xiaoqian Liu, Weiqi Zhang, Guang-Hui Liu, Si Wang, Moshi Song, J. Qu   +12 more
semanticscholar   +1 more source

The expression and significance of p4E‐BP1/4E‐BP1 in prostate cancer

Journal of clinical laboratory analysis (Print), 2022
Although the phosphorylation of 4E‐BP1 that has been detected in high‐grade prostate cancer has been reported in previous studies, overexpression of p4E‐BP1 and 4EBP1 and their clinical significance in prostate cancer still remain unknown.
Kai-Yun Wang, Ke-jie Wang, Qi Ma
semanticscholar   +1 more source

Fusarium BP1 is a reader of H3K27 methylation

Nucleic Acids Research, 2021
Histone H3 lysine 27 methylation catalyzed by polycomb repressive complex 2 (PRC2) is conserved from fungi to humans and represses gene transcription. However, the mechanism for recognition of methylated H3K27 remains unclear, especially in fungi.
G. Tang, Jianlong Yuan, Jing Wang, Yi-Zhe Zhang, Sijie Xie, Hongkai Wang, Zeng Tao, Huiquan Liu, H. Kistler, Youfu Zhao, Cheng-Guo Duan, Wende Liu, Zhonghua Ma, Yun Chen   +13 more
semanticscholar   +1 more source

BAP1 promotes viability and migration of ECA109 cells through KLF5/CyclinD1/FGF‐BP1

FEBS Open Bio, 2021
More than 40 000 patients worldwide die from esophageal cancer annually. The 5‐year survival rate of patients is only ~ 15–20%, and thus, there is an ongoing need to improve diagnosis and treatment of esophageal cancer.
Fengyun Wang, Ming Luo, Honglan Qu, Yufeng Cheng   +3 more
semanticscholar   +1 more source

Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families

International Journal of Molecular Sciences, 2021
The 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most common cytogenetic finding in patients with neurodevelopmental or autism spectrum disorders (ASD) presenting for microarray genetic testing.
Isaac Baldwin, Robin L. Shafer, Waheeda A. Hossain, S. Gunewardena, Olivia J. Veatch, Matthew W. Mosconi, M. Butler   +6 more
semanticscholar   +1 more source

BAD regulates mammary gland morphogenesis by 4E-BP1-mediated control of localized translation in mouse and human models

Nature Communications, 2021
Elucidation of non-canonical protein functions can identify novel tissue homeostasis pathways. Herein, we describe a role for the Bcl-2 family member BAD in postnatal mammary gland morphogenesis.
J. M. Githaka, Namita Tripathi, Raven Kirschenman, Namrata Patel, V. Pandya, D. A. Kramer, Rachel Montpetit, Lin‐Fu Zhu, N. Sonenberg, R. Fahlman, N. Danial, D. Underhill, I. Goping   +12 more
semanticscholar   +1 more source

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.

JAMA psychiatry, 2020
Importance Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders.
D. van der Meer, I. Sønderby, T. Kaufmann, G. Walters, A. Abdellaoui, D. Ames, K. Amunts, M. Andersson, N. Armstrong, M. Bernard, Nicholas B. Blackburn, J. Blangero, D. Boomsma, H. Brodaty, R. Brouwer, R. Bülow, W. Cahn, V. Calhoun, S. Caspers, G. Cavalleri, C. Ching, S. Cichon, S. Ciufolini, A. Corvin, B. Crespo-Facorro, J. Curran, S. Dalvie, P. Dazzan, E. D. de Geus, G. D. de Zubicaray, S. D. de Zwarte, N. Delanty, Anouk den Braber, S. Desrivières, M. di Forti, J. Doherty, G. Donohoe, S. Ehrlich, E. Eising, T. Espeseth, S. Fisher, T. Fladby, O. Frei, V. Frouin, M. Fukunaga, Thomas Gareau, D. Glahn, H. Grabe, N. Groenewold, Ó. Gústafsson, J. Haavik, A. Håberg, R. Hashimoto, J. Hehir-Kwa, D. Hibar, M. Hillegers, P. Hoffmann, L. Holleran, J. Hottenga, H. H. Hulshoff Pol, M. Ikeda, S. Jacquemont, N. Jahanshad, C. Jockwitz, S. Johansson, E. Jönsson, M. Kikuchi, E. Knowles, J. Kwok, S. Le Hellard, D. Linden, Jingyu Liu, A. Lundervold, A. Lundervold, N. Martin, K. Mather, S. Mathias, K. Mcmahon, A. McRae, S. Medland, T. Moberget, C. Moreau, D. Morris, Thomas W. Mühleisen, R. Murray, J. Nordvik, L. Nyberg, Loes M. Olde Loohuis, R. Ophoff, M. Owen, T. Paus, Z. Pausova, J. Peralta, B. Pike, Carlos Prieto, E. Quinlan, C. Reinbold, T. Reis Marques, J. Rucker, P. Sachdev, S. Sando, P. Schofield, A. Schork, G. Schumann, Jean Shin, E. Shumskaya, Ana I. Silva, S. Sisodiya, V. Steen, Dan J Stein, Lachlan T. Strike, C. K. Tamnes, A. Teumer, A. Thalamuthu, D. Tordesillas-Gutiérrez, A. Uhlmann, M. Ulfarsson, D. van ‘t Ent, M. V. D. van den Bree, E. Vassos, W. Wen, K. Wittfeld, M. Wright, T. Zayats, A. Dale, S. Djurovic, I. Agartz, L. Westlye, H. Stefánsson, K. Stefánsson, P. Thompson, O. Andreassen   +131 more
semanticscholar   +1 more source

The 15q11.2 BP1-BP2 Microdeletion (Burnside–Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Disorders

International Journal of Molecular Sciences, 2020
The 15q11.2 BP1-BP2 microdeletion (Burnside–Butler) syndrome is emerging as the most frequent pathogenic copy number variation (CNV) in humans associated with neurodevelopmental disorders with changes in brain morphology, behavior, and cognition. In this
Syed K. Rafi, M. Butler
semanticscholar   +1 more source

siRNA Knockdown of REDD1 Facilitates Aspirin-Mediated Dephosphorylation of mTORC1 Target 4E-BP1 in MDA-MB-468 Human Breast Cancer Cell Line

Cancer Management and Research, 2021
Background Mutations within genes encoding components of the PI3K/AKT/mTOR (phosphoinositide 3-kinase/protein kinase B/mechanistic target of rapamycin) signaling axis frequently activate the pathway in breast cancer, making it an attractive therapeutic ...
A. Savukaitytė, Greta Gudoitytė, A. Bartnykaitė, R. Ugenskiene, E. Juozaitytė   +4 more
semanticscholar   +1 more source