Results 191 to 200 of about 83,578 (286)

Genetic Basis of Dominantly Inherited Transient Bullous Dermolysis of the Newborn: A Splice Site Mutation in the Type VII Collagen Gene

, 1997
Angela M. Christiano, Jo‐David Fine, Jouni Uitto   +2 more
openalex   +2 more sources

SUMOylation is a Translatable Target in Hypoxic MNPs Regulating Retinal Vasculopathy

Advanced Science, EarlyView.
During ischemic retinopathy/retinal vasculopathy, UBC9‐mediated SUMOylation in retinal macrophages enhances their pro‐angiogenic capacity via hypoxia‐induced SUMOylation of FUS at K327/K502. This modification suppresses FUS binding to the Vegfa mRNA 3’UTR, stabilizing transcripts and facilitating VEGFA production. Targeting UBC9 inhibition can serve as
Zheng Zhong, Guangyu Liang, Huimin Yu, Jiaqi Li, Ruohong Wang, Xiaohong Ma, Ziqing Zhou, Yin Zhao, Fei Sun, Xufang Sun   +9 more
wiley   +1 more source

Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation. [PDF]

J Transl Med
Luo M, Wang Y, Liang J, Wan X.
europepmc   +1 more source

A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies. [PDF]

Appl Clin Genet, 2020
Velandia-Piedrahita CA, Morel A, Fonseca-Mendoza DJ, Huertas-Quiñones VM, Castillo D, Bonilla JD, Hernandez-Toro CJ, Miranda-Fernández MC, Restrepo CM, Cabrera R.   +9 more
europepmc   +1 more source

Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2. [PDF]

J Allergy Clin Immunol, 2021
Schim van der Loeff I, Sprenkeler EGG, Tool ATJ, Abinun M, Grainger A, Engelhardt KR, van Houdt M, Janssen H, Kuijpers TW, Hambleton S.   +9 more
europepmc   +1 more source

HPD is an RNA‐Binding Protein Sustaining Ovarian Cancer Cell Glycolysis, Tumor Growth, and Drug Resistance

Advanced Science, EarlyView.
HPD is identified as an RNA‐binding protein that promotes mRNA translation by binding to RRACH motifs via its double‐stranded RNA‐binding domains. This RNA‐binding activity critically sustains glycolysis in ovarian cancer cells. Disrupting HPD's RNA‐binding function effectively suppresses tumor growth and enhances therapeutic sensitivity, highlighting ...
Fei Xie, Han Zhang, Xintong Dai, Mengxin Tu, Chenxi Yu, Lumeng Liu, Yajuan Guo, Huanran Sun, Qingle Gao, Jiyan Wang, Mingming Sun, Qijun Zhang, Taoyuan Wang, Tao He, Zhen Li, Yanping Li, Tao Wang, Jianguo Zhao, Zhongjie Chen, Chunze Zhang, Shuai Zhang, Changliang Shan   +21 more
wiley   +1 more source

Congenital Goiter with Hypothyroidism Caused by a 5′ Splice Site Mutation in the Thyroglobulin Gene [PDF]

, 2001
Héctor M. Targovnik, Carina M. Rivolta, Fernando Mendive, Christian M. Moya, J Vono, Geraldo Medeiros‐Neto   +5 more
openalex   +1 more source

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families. [PDF]

Diagnostics (Basel), 2021
Grünert SC, Hannibal L, Schumann A, Rosenbaum-Fabian S, Beck-Wödl S, Haack TB, Grimmel M, Bertrand M, Spiekerkoetter U.   +8 more
europepmc   +1 more source

Detection of a rare splice acceptor site mutation (IVS I nt 130 G→C) of the β globin gene in 3 patients of Eastern India [PDF]

, 2001
Aditi Bandyopadhyay, Sanmay Bandyopadhyay, Uma B. Dasgupta, Sharmila Chandra, Madhuchhanda Das   +4 more
openalex   +1 more source

Antagonistic Ghd7‐OsNAC42 Complexes Modulate Carbon and Nitrogen Metabolism to Achieves Superior Quality and High Yield in Rice

Advanced Science, EarlyView.
The complex centered on Ghd7 binds to numerous carbon and nitrogen metabolism genes on the genome through the corresponding motifs and transactivates the transcriptional expression of these carbon and nitrogen metabolism genes. With the assistance of OsNAC42 and other unknown Ghd7‐interacting proteins, this complex can regulate different metabolic ...
Guangming Lou, Pingli Chen, Pingbo Li, Haozhou Gao, Jiawang Xiong, Shanshan Wan, Yuanyuan Zheng, Yufu Wang, Mufid Alam, Yingnanjun Chen, Lei Wang, Jingjing Bai, Xuan Tan, Wenting Rao, Bian Wu, Hao Zhou, Yanhua Li, Guanjun Gao, Qinglu Zhang, Jinghua Xiao, Xianghua Li, Xuelei lai, Qifa Zhang, Yuqing He   +23 more
wiley   +1 more source