Results 171 to 180 of about 219,109 (274)

Strategic base modifications refine RNA function and reduce CRISPR-Cas9 off-targets. [PDF]

Nucleic Acids Res
Zhang K, Shen W, Zhao Y, Xu X, Liu X, Qi Q, Huang S, Tian T, Zhou X.   +8 more
europepmc   +1 more source

Targeting COPA to Enhance Erdafitinib Sensitivity in FGFR‐Altered Bladder Cancer

Advanced Science, EarlyView.
Coatomer protein complex subunit α facilitates the transport of the cargo protein LRPPRC across the Golgi complex and enhances its stability, thereby increasing LRPPRC expression; LRPPRC promotes the stability of ID3 mRNA in an m6A‐dependent manner, thereby decreasing the transcriptional activity of p16 and p21, which leads to increased erdafitinib ...
Huayuan Zhao, Xincheng Gao, Yangkai Jiang, Yanchao Yu, Liang Wang, Jiayin Sun, Miao Wang, Xing Xiong, Chao Huang, Hui Zhang, Guosong Jiang   +10 more
wiley   +1 more source

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho   +25 more
wiley   +1 more source

Measuring XNA polymerase fidelity in a hydrogel particle format. [PDF]

Nucleic Acids Res
Medina EL, Chaput JC.
europepmc   +1 more source

ZNHIT3 Regulates Translation to Ensure Cell Lineage Differentiation in Mouse Preimplantation Development

Advanced Science, EarlyView.
Box C/D snoRNP complex regulates protein translation. This study identifies ZNHIT3 as a key component of the complex and ensures normal protein expression, including transcription factors orchestrating cell fate commitment, during early mouse embryogenesis.
Guanghui Yang, Qiliang Xin, Jurrien Dean
wiley   +1 more source

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer   +30 more
wiley   +1 more source

Adoption of an in-silico analysis approach to assess the functional and structural impacts of rpoB-encoded protein mutations on Chlamydia pneumoniae sensitivity to antibiotics. [PDF]

BMC Microbiol
Esskhayry S, Benamri I, Lamzouri A, Kaissi O, Fissoune R, Moussa A, Radouani F.   +6 more
europepmc   +1 more source

Functional implications of C-terminus of TBX5 with high homology to C-terminal domain of yeast DNA-directed RNA polymerase II largest subunit

, 2008
Zhuren Zhou, Li-Guo Gong, Wenqing Geng, Qiu Guang-rong, Kailai Sun   +4 more
openalex   +1 more source

Normal human placentas contain RNA-directed DNA polymerase activity like that in viruses. [PDF]

, 1978
Jay A. Nelson, J A Leong, Jay A. Levy
openalex   +1 more source

Sperm‐Derived CircRNA‐1572 Regulates Embryogenesis and Zygotic Genome Activation by Targeting CCNB2 via Bta‐miR‐2478‐L‐2

Advanced Science, EarlyView.
Sperm‐derived circRNA‐1572 competitively binds to bta‐miR‐2478‐L‐2 through a “sponge” mechanism to regulate cyclin B2 (CCNB2) expression, thereby modulating the distribution of fibrous actin (F‐actin) in early pig embryos, ensuring proper chromosome segregation during mitosis, and facilitating normal embryo cleavage and zygotic genome activation.
Yanfang Wu, Yaochang Wei, Yuelin Li, Yiming Dou, YongQiang Yang, Hanghang Liu, Xiaoyan Wang, Zheng Wang, Jianmin Su, Yong Zhang, Yongsheng Wang   +10 more
wiley   +1 more source