Results 111 to 120 of about 3,786,126 (364)

The Nuclear Localization of ACLY Guards Early Embryo Development Through Recruiting P300 and HAT1 to Promote Histone Acetylation and Transcription

Advanced Science, EarlyView.
ACLY is vital for early embryo development. IGF‐1 activates AKT to phosphorylate ACLY, driving its nuclear localization and recruitment of HATs (P300/HAT1), boosting acetyl‐CoA production and histone acetylation for transcriptional activation. Conversely, ACLY deficiency (via knockdown, knockout, or AKT inhibition) reduces nuclear acetyl‐CoA, disrupts ...
Yerong Ma, Yingyi Zhang, Weijie Yang, Xiaomei Tong, Siya Liu, Yan Zhou, Mengjia Qiu, Huifang Jiang, Zhanhong Hu, Peipei Ren, Yan Rong, Mengru Lai, Jiamin Jin, Fei Huang, Liujian Ouyang, Feng Zhou, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang   +18 more
wiley   +1 more source

Advances in Single‐Cell Sequencing for Infectious Diseases: Progress and Perspectives

Advanced Science, EarlyView.
Single‐cell sequencing technologies uncover novel, unknown, and emergent features of many diseases. This review describes recent progress of single‐cell sequencing technologies and their applications in infectious diseases, summarizes the underlying commonalities of different infections and discusses future research directions, facilitating the ...
Mengyuan Lyu, Yang Liu, Jian Zhou, Hongli Lai, Hongxia Ruan, Dongsheng Wu, Shun Zhu, Xudong Zhou, Wananqi Ma, Yuchen Huang, Shuting Lei, Han Luo, Jie Chen, Binwu Ying   +13 more
wiley   +1 more source

The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes. [PDF]

J Assist Reprod Genet, 2022
Martel RA, Blakemore JK, Fino ME.
europepmc   +1 more source

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17.

Proceedings of the National Academy of Sciences of the United States of America, 1998
Pallido-ponto-nigral degeneration (PPND) is one of the most well characterized familial neurodegenerative disorders linked to chromosome 17q21-22. These hereditary disorders are known collectively as frontotemporal dementia (FTD) and parkinsonism linked ...
L. Clark, P. Poorkaj, Z. Wszolek, D. Geschwind, Z. Nasreddine, B. Miller, Diane Li, H. Payami, Fre Awert, K. Markopoulou, A. Andreadis, I. D’Souza, V. Lee, L. Reed, J. Trojanowski, V. Zhukareva, T. Bird, G. Schellenberg, K. Wilhelmsen   +18 more
semanticscholar   +1 more source

Irisin Attenuates Pulmonary Vascular Remodeling in Pulmonary Arterial Hypertension via Ubiquitin‐Mediated Regulation of ENO1

Advanced Science, EarlyView.
Irisin is a crucial plasma biomarker and promising therapeutic target that reflects disease severity, pulmonary vascular remodeling status and clinical outcome in patients with pulmonary arterial hypertension (PAH). As a novel protective factor, irisin is downregulated in PAH. By ubiquitination, irisin promotes Enolase 1 degradation and suppresses cell
Na Sun, Yong‐Bing Wang, Jing Huang, Run‐Wei Deng, Hui‐Yu He, Lei Gao, Xuan Gao, You‐Li Fan, Yan Cong, Yao‐Lei Guo, Yi‐Qiang Chen, Gui‐Jia Wang, Shao‐Hong Fang, Xia Gu, Bo Yu, Bing‐Xiang Wu   +15 more
wiley   +1 more source

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

Endocrine Connections, 2017
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with ...
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero   +6 more
doaj   +1 more source

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

bioRxiv, 2019
We delineate a KMT2E gene-related neurodevelopmental disorder based on 38 individuals in 36 families. This includes 31 distinct heterozygous variants in the KMT2E gene (28 ascertained from Matchmaker Exchange and 3 previously reported), and 4 individuals
A. O’Donnell-Luria, L. Pais, Víctor Faundes, J. Wood, A. Sveden, V. Luria, R. Jamra, A. Accogli, K. Amburgey, B. Anderlid, S. Azzarello-Burri, Alice A. Basinger, C. Bianchini, L. Bird, R. Buchert, W. Carré, S. Ceulemans, P. Charles, H. Cox, Lisa Culliton, Aurora Curró, D. D. D. Study, F. Démurger, J. Dowling, B. Duban‐Bedu, C. Dubourg, Luis Fernando González Escobar, A. Ferrarini, T. Haack, Mona Hashim, S. Heide, K. Helbig, I. Helbig, R. Heredia, D. Heron, B. Isidor, Amy R. Jonasson, P. Joset, B. Keren, F. Kok, H. Kroes, A. Lavillaureix, Xin Lu, S. Maas, G. Maegawa, Carlo Marcelis, Saga Elise Eiset, P. Mark, M. Masruha, H. Mclaughlin, K. McWalter, Esther U Melchinger, S. Mercimek-Andrews, C. Nava, Manuela Pendziwiat, R. Person, G. Ramelli, Luiza Ramos, A. Rauch, C. Reavey, A. Renieri, Angelika Rie szlig, Amarilis Sanchez-Valle, Shifteh Sattar, Carol J. Saunders, N. Schwarz, T. Smol, M. Srour, K. Steindl, S. Syrbe, Jenny C. Taylor, A. Telegrafi, I. Thiffault, D. Trauner, H. Linden, S. Koningsbruggen, L. Villard, I. Vogel, J. Vogt, Y. Weber, I. Wentzensen, E. Widjaja, J. Zak, S. Baxter, S. Banka, Lance H Rodan   +85 more
semanticscholar   +1 more source

Dysfunctional Decidual CD4+T Cells Induce Recurrent Pregnancy Loss via Palmitoylation‐Dependent Tim‐3 Lysosomal Sorting and Degradation

Advanced Science, EarlyView.
Dysfunctional decidual CD4+T cells induce recurrent pregnancy loss via palmitoylation‐dependent Tim‐3 lysosomal sorting and degradation. The integrated bioinformatics, proteomic, functional and model studies elucidate that Tim‐3 is palmitoylated by ZDHHC3 at Cys9. Sortilin bound to and directed palmitoylated Tim‐3 toward lysosome degradation, resulting
Liyuan Cui, Xinhang Meng, Yujie Luo, Jinfeng Qian, Fengrun Sun, Mingke Qiu, Songcun Wang   +6 more
wiley   +1 more source

Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation

Neural Plasticity, 2012
The development of genetic technologies has led to the identification of several copy number variations (CNVs) in the human genome. Genome rearrangements affect dosage-sensitive gene expression in normal brain development.
Jun Nomura, Toru Takumi
doaj   +1 more source

A Super‐Enhancer‐Driven Transcriptional Regulatory Circuit Underlying Abiraterone Resistance in Castration‐Resistant Prostate Cancer

Advanced Science, EarlyView.
This study identifies a super‐enhancer‐driven transcriptional regulatory circuit comprising BCL6, SMAD3, and NFIB that cooperate to drive cholesterol synthesis via SREBF2/HMGCR/FDFT1 activation and regulate CDK2/CCND3 for cell cycle control. Targeting this circuit with BI‐3802 or downstream inhibitors (Fatostatin/Lovastatin) overcomes abiraterone ...
Liling Jiang, Jiamin Wang, Guanjie Peng, Haichuan Zhang, Jinxin Fang, Yingyin Gao, Enzhe Lou, Yangzhou Liu, Wa Ding, Bingyuan Liu, Qiong Mao, Lizhen Jiang, Aochu Liu, Xinyue Li, Shiwen Hu, Qiaomin Ma, Yueyuan Zheng, Zhigang Zhao, Xianping Shi   +18 more
wiley   +1 more source