Results 161 to 170 of about 19,235 (265)

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease [PDF]

, 2018
Anthony Antonellis, Stephanie N. Oprescu, Laurie B. Griffin, Amer Heider, Andrea Amalfitano, Jeffrey W. Innis   +5 more
openalex   +1 more source

Macrophagic Sclerostin Loop2‐ApoER2 Interaction Required by Sclerostin for Cardiovascular Protective Action

Advanced Science, EarlyView.
Sclerostin loop2‐ApoER2 interaction in macrophages is required by sclerostin to suppress NF‐κB nuclear translocation and phosphorylation, to promote macrophage conversion into anti‐inflammatory subtypes in atherosclerotic aortas, as well as to prevent atherosclerosis and aortic aneurysm development in ApoE−/− mice. Abstract Therapeutic antibody against
Luyao Wang, Xiaohui Tao, Ning Zhang, Xin Yang, Hewen Jiang, Xiaofei Li, Shenghang Wang, Shijian Ding, Sifan Yu, Huarui Zhang, Yihao Zhang, Nanxi Li, Haitian Li, Zhanghao Li, Xiaoxin Wen, Meiheng Sun, Chuanxin Zhong, Jin Liu, Yuanyuan Yu, Xianghang Luo, Tao Zhang, Shu Zhang, Péter Ferdinandy, Yu Huang, Daqing Ma, Aiping Lu, Baoting Zhang, Ge Zhang   +27 more
wiley   +1 more source

Familial Mediterranean Fever With Compound Heterozygosity for the Pyrin Variant L110P-E148Q: A Case Report. [PDF]

Cureus
Fukuda S, Muranaka T, Otsuka Y, Takishin Y, Kunieda Y.   +4 more
europepmc   +1 more source

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

Advanced Science, EarlyView.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei, Wenzhu Peng, Zekun Huang, Bingye Yang, Yiyu Wu, Minzhen Han, Yi Wang, Bingling Peng, Guosheng Hu, Jiawei Hong, Guijia Liu, Linwei Nie, Yang Gan, Miaoqin Huang, Xuan Luo, Weiwei You, Wen Liu, Caihuan Ke   +17 more
wiley   +1 more source

Targeting DAP5 Disrupts Alternate Mode of Translational Initiation in Tregs and Potentiates Antitumor Immunity

Advanced Science, EarlyView.
Regulatory T cells (Tregs) suppress antitumor immunity. This study identifies that the translation scaffold DAP5/eIF4G2 is upregulated in tumor‐infiltrating Tregs (ti‐Tregs). DAP5 mediates an alternate translation mode to sustain CD25 and MCL‐1 expression, which is critical for ti‐Treg stability and survival in the tumor microenvironment.
Xiaojiang Lai, Guihong Pan, Xixi Feng, Jun Zhang, Yunxia Li, Shanmeizi Zhao, Zhenming Lin, Yun Feng, Wei Bao, Hongyan Yang, Chengmei Xie, Chen Huang, Jun Wang   +12 more
wiley   +1 more source

Sporadic Porphyria Cutanea Tarda, Cutaneous Sarcoidosis, and Compound Heterozygosity of HFE Mutations Cys282Tyr and His63Asp-A Case Report. [PDF]

EJHaem
Kim JL, Crawford R, Lano IM, Merkeley H.
europepmc   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source

Case Report: A novel compound heterozygosity of the <i>EVC</i>2 gene identified in a Chinese pedigree with congenital heart defect. [PDF]

Front Pediatr
Xu X, Gao C, Jin K, Zhang L, Yang Y, Zhang J, Ye Y, Shen S.   +7 more
europepmc   +1 more source

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant. [PDF]

Int J Neonatal Screen, 2021
Sriwattanapong K, Rojnueangnit K, Theerapanon T, Srichomthong C, Porntaveetus T, Shotelersuk V.   +5 more
europepmc   +1 more source

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

Advanced Science, EarlyView.
We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren, Zhuoqing Fang, Egor Dolzhenko, Christopher T. Saunders, Zhuanfen Cheng, Victoria Popic, Gary Peltz   +6 more
wiley   +1 more source