Results 81 to 90 of about 640,277 (286)

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Diabetes mellitus and other pathology in patients with INS and INSR mutations

Сахарный диабет, 2012
Over 20 missense mutations and Y108X nonsense mutation in INS are dominant and induce synthesis of chimeric proteins that may interfere with folding and processing of all insulin molecules.
Yury Alexandrovich Pankov
doaj   +1 more source

Loss of E3 Ubiquitin Ligase RINES via CpG Methylation Relieves Suppression of STAT3 and MYC, Facilitating Multiple Tumorigeneses

Advanced Science, EarlyView.
Dysregulated protein modifications drive tumorigenesis. RINES, an E3 ubiquitin ligase, represses tumor cell proliferation and metastasis by facilitating RING domain‐dependent, ubiquitin–proteasome‐mediated degradation of STAT3 and MYC, which consequently restrains cancer stemness and oncogenic progression.
Lili Li, Ka Man Ng, Xingsheng Shu, Xiaoxue Chai, Kai Yau Wong, Gopesh Srivastava, Anthony T.C. Chan, Wai Yee Chan, Qian Tao   +8 more
wiley   +1 more source

Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report

BMC Medical Genetics, 2018
Background X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH).
Xiaodong Lyu, Zhen Guo, Yangwei Li, Ruihua Fan, Yongping Song   +4 more
doaj   +1 more source

CA9‐Targeted PET Imaging for Noninvasive Discrimination of Clear Cell Renal Cell Carcinoma and Associated Tumor Biological Features

Advanced Science, EarlyView.
CA9‐targeted PET imaging could be a noninvasive approach to characterize clear cell renal cell carcinoma and associated tumor biology. PET uptake correlates with tumor CA9 expression and is linked to angiogenic activity, immune remodeling, and metabolic reprogramming.
Kailei Chen, Sixuan Cheng, Jian Shi, Ruijie Liu, Yilong Wu, Xin Zheng, Xinlun Song, Yunxuan Zhang, Lei Liu, Zhihao Wei, Qi Wang, Xinwei Li, Zirui Dong, Yuenan Liu, Hongmei Yang, Xiaoli Lan, Chunxia Qin, Dawei Jiang, Keshan Wang, Xiaoping Zhang   +19 more
wiley   +1 more source

Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.

PLoS Genetics, 2014
When two mutations, one dominant pathogenic and the other "confining" nonsense, coexist in the same allele, theoretically, reversion of the latter may elicit a disease, like the opening of Pandora's box.
Yasushi Ogawa, Takuya Takeichi, Michihiro Kono, Nobuyuki Hamajima, Toshimichi Yamamoto, Kazumitsu Sugiura, Masashi Akiyama   +6 more
doaj   +1 more source

SOX5 Orchestrates Malignant Evolution via Promoter‐Centric Chromatin Remodeling in MYC‐Driven B‐Cell Lymphoma

Advanced Science, EarlyView.
In MYC‐enforced B‐cell lymphoma, SOX5 occupies promoter‐proximal regulatory regions and is associated with reduced chromatin accessibility at the PCNP locus. PCNP repression promotes proliferative remodeling by limiting apoptosis and cell‐cycle restraint.
Yiyou Mao, Zhenyuan Jia, Xiao‐Qin Mu, Ruilin Wang, Jianli Ma, Qingyuan Zhang, Yuwei Deng   +6 more
wiley   +1 more source

Phenotypic Rescue of a Nonsense Mutation in TRAPPC11 using Translational Read-through Inducing Drugs [PDF]

, 2022
The TRAPP family of complexes are multisubunit tethering complexes that function in membrane trafficking. There are two TRAPP complexes that have been identified in humans: TRAPP II and TRAPP III.
Chase, KC
core   +1 more source

Additional file 1: of A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses

, 2016
Sanger DNA sequencing results for the nonsense mutation. A table with information on all horses that have been sequenced for the nonsense mutation.
Manon Vos-Loohuis (194933), Bart Ducro (3362936), Iris Boegheim (3452129), Anouk Schurink (2608615), Ids Hellinga (3452144), Peter Leegwater (468470), Isaac Nijman (3452141), Bert Dibbits (180192), Glen Monroe (3452132), John Bastiaansen (3452135), Frank Steenbeek (3452138), Willem Back (688802)   +11 more
core   +1 more source

Deep Learning Prediction of O‐Glycopeptide Tandem Mass Spectra Enhances O‐Glycoproteomics

Advanced Science, EarlyView.
DeepGPO integrates Transformer and graph neural networks with tailored training strategies, including data augmentation, loss re‐weighting, and pre‐training, to achieve high‐quality O‐glycopeptide MS/MS spectra prediction. The predicted MS/MS spectra are used to localize O‐glycosylation sites from HCD MS/MS data, enhancing O‐glycoproteomics analysis ...
Yu Zong, Yuxin Wang, Liang Qiao
wiley   +1 more source