Results 121 to 130 of about 196,851 (322)

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders

Molecular Cytogenetics
Background The X chromosome is enriched with genes related to brain development, and the hemizygous state of these genes in men causes some difficulties in the clinical interpretation of copy number variations (CNVs).
Ekaterina N. Tolmacheva, Anna A. Kashevarova, Elizaveta A. Fonova, Olga A. Salyukova, Gulnara N. Seitova, Lyudmila P. Nazarenko, Anna A. Agafonova, Larisa I. Minaycheva, Ekaterina G. Ravzhaeva, Valeria V. Petrova, Maria E. Lopatkina, Elena O. Belyaeva, Svetlana L. Vovk, Dmitry A. Fedotov, Oksana Y. Vasilyeva, Nikolay A. Skryabin, Igor N. Lebedev   +16 more
doaj   +1 more source

DNMT2‐m5C‐ACLY Axis Promotes Lenvatinib Resistance in Hepatocellular Carcinoma Through Histone Acetylation‐Mediated Notch Pathway

Advanced Science, EarlyView.
Lenvatinib resistance poses a major challenge in advanced hepatocellular carcinoma (HCC). This study reveals that DNMT2 upregulation is a key driver, which stabilizes ACLY mRNA via m5C modification and activates the Notch signaling pathway. Crucially, combining ACLY inhibitors with lenvatinib overcomes resistance and suppresses tumors, offering a ...
Shiguang Yang, Jie Li, Shengwei Mao, Xuhui Zhao, Douwaner Liu, Jiafeng Chen, Jialu Fu, Yichao Bu, Xiaoling Wu, Shaoqing Liu, Qifeng Yu, Qiongzhu Dong, Zheng Tang, Yuan Fang, Yinghong Shi   +14 more
wiley   +1 more source

Nonrandom X Chromosome Inactivation Is Influenced by Multiple Regions on the Murine X Chromosome [PDF]

, 2012
Joanne L. Thorvaldsen, Christopher Krapp, Huntington F. Willard, Marisa S. Bartolomei   +3 more
openalex   +1 more source

TP53BP2 Promotes Placental Autophagy and Preeclampsia via G9a and DNMT1 Cooperatively Modulating E2F1

Advanced Science, EarlyView.
G9a, and DNA Methyltransferase1 (DNMT1) cooperatively modulates E2F1 on the promoter of tumor suppressor p53‐binding protein 2 (TP53BP2) increased autophagy in preeclampsia. TP53BP2 promotes autophagy in trophoblasts through DNA methylation and H3K9me2‐mediated transcriptional regulation.
Nan Jiang, Shaoju Jin, Shaoying Wen, Wen Zeng, Chen Wang, Jingyu Wang, Qingyun Song, Guizhong Li, Pengzhi Yin, Yuhui Liao, Yuee Chai, Huiping Zhang, Shengchao Ma   +12 more
wiley   +1 more source

TLR7 escapes X chromosome inactivation in immune cells

Science immunology, 2018
Mélanie Souyris, C. Cénac, P. Azar, D. Daviaud, A. Canivet, S. Grunenwald, C. Pienkowski, Julie Chaumeil, J. E. Mejía, J. Guéry   +9 more
semanticscholar   +1 more source

X chromosome inactivation unravelled [PDF]

Nature Reviews Genetics, 2015
openaire   +1 more source

EIF5A Couples Translational Control With Transcriptional Reprogramming Through Chromocenter Reorganization During Spermiogenesis

Advanced Science, EarlyView.
The translation factor Eukaryotic translation initiation factor 5A (eIF5A) is essential for male fertility in mice. It supports the translation of proteins crucial for heterochromatin organization and acrosome formation. eIF5A deficiency disrupts chromocenter integrity, increases chromatin accessibility, and causes transcriptional dysregulation ...
Yuling Cai, Tongtong Li, Qian Fang, Ziyou Bao, Feng Kong, Huitao Qi, Hanzhen Li, Mingyu Zhang, Wei Wang, Yongxia Guan, Wenbo Liu, Xiangfeng Chen, Zi‐Jiang Chen, Xiaohua Jiang, Xin Wang, Hongbin Liu   +15 more
wiley   +1 more source

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation

, 2008
Eric M. Lewis, Manav Singla, Susan Sergeant, Patrick P. Koty, Linda C. McPhail   +4 more
openalex   +2 more sources

Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations [PDF]

, 2016
Jialin Xu, Payal P. Khincha, Neelam Giri, Blanche P. Alter, Sharon A. Savage, Judy M.Y. Wong   +5 more
openalex   +1 more source

PCGF3/5–PRC1 initiates Polycomb recruitment in X chromosome inactivation

Science, 2017
Mafalda Almeida, G. Pintacuda, O. Masui, Yoko Koseki, M. Gdula, A. Cerase, David Brown, A. Mould, Cassandravictoria Innocent, M. Nakayama, L. Schermelleh, T. Nesterova, H. Koseki, N. Brockdorff   +13 more
semanticscholar   +1 more source