Results 111 to 120 of about 473,993 (259)

Effects of Aberrant Pax6 Gene Dosage on Mouse Corneal Pathophysiology and Corneal Epithelial Homeostasis [PDF]

, 2011
Background: Altered dosage of the transcription factor PAX6 causes multiple human eye pathophysiologies. PAX6(+/-) heterozygotes suffer from aniridia and aniridia-related keratopathy (ARK), a corneal deterioration that probably involves a limbal ...
Mort, Richard L., Fullwood, Nigel J., West, John D., Martin, Francis L., Collinson, J. Martin, Morley, Steven D., Douvaras, Panagiotis, Hill, Robert E., Bentley, Adam J.   +8 more
core   +1 more source

Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing

Pharmacogenomics and Personalized Medicine, 2021
Xiaoyun Hu, Tao Huang, Yun Liu, Lina Zhang, Li Zhu, Xiaohong Peng, Sufang Zhang Department of Pediatrics, The First Affiliated Hospital of Nanchang University, Nanchang, People’s Republic of ChinaCorrespondence: Tao Huang Tel +86 13970012590Email ...
Hu X, Huang T, Liu Y, Zhang L, Zhu L, Peng X, Zhang S   +6 more
doaj  

A Personalized Haplotype‐Resolved Near‐Gapless Genome Framework for Somatic Variant Discovery in Hepatocellular Carcinoma

Advanced Science, EarlyView.
A patient‐specific, haplotype‐resolved genome framework improves detection and interpretation of somatic variants in hepatocellular carcinoma. Using multi‐platform sequencing, the personalized assembly resolves complex regions including centromeres and MHC/HLA loci, enhances structural variant discovery, and links regulatory alterations to allele ...
Jiazheng Lin, Yao Xiao, Shuangzi Luo, Yifan Li, Wenfei Zhang, Xiaoyu Zhang, Xinyi Wang, Di Wu, Jieru Hong, Yongkun Luan, Xun Huang, Yixiu Wang, Ningbo Wu, Xiaoxiao Hu, Fei Zhao, Wei Li, Xiao Luo, Bi Shi   +17 more
wiley   +1 more source

DDX3x Regulates NINJ1 Transcription via Histone Lactylation in Sepsis Associated‐Acute Kidney Injury

Advanced Science, EarlyView.
This study identifies a potential therapeutic approach for sepsis‐associated acute kidney injury (SA‐AKI). We found that during SA‐AKI, reduced expression of DDX3x in renal tubular epithelial cells mediates histone delactylation, which in turn upregulates NINJ1 transcription and triggers tubular cell death. Conversely, Odetiglucan confers protection by
Hongyu Liang, Jihong Jiang, Huanxin Yin, Chunyan Liu, Hongjun Huang, Yan Luo, Minmin Zhu, Qiuyun Wang   +7 more
wiley   +1 more source

Pulmonary Arteriovenous Malformations Unmasked by Refractory Hypoxia: An Unusual Presentation in Hereditary Hemorrhagic Telangiectasia

Indian Pediatrics Case Reports
Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder usually known to manifest with epistaxis, mucocutaneous telangiectasia, and visceral arteriovenous malformations (AVMs). Clinical Description: A 12-year-old girl presented
Sharmila Sankar, P. S. Rajakumar, S. Shuba, Vimalnath Shanmugam, Sabarish Sekar, Jebaraj Rathinasamy   +5 more
doaj   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source

Maternal Exercise Rescues Embryonic Osteogenesis Impaired due to POLG Mutation Through a Potential Apelin‐ATF4 Axis

Advanced Science, EarlyView.
Maternal exercise (ME) increases apelin abundance across maternal and fetal tissues and is associated with improved fetal osteogenesis under POLG mutation‐induced mitochondrial dysfunction. Apelin‐APJ signaling is linked to enhanced mitochondrial function, Akt phosphorylation, and ATF4‐RUNX2 association, supporting coordinated fetal bone remodeling ...
Song Ah Chae, Ryan C. Riddle, Zhihua Jiang, Chaeyoung Shin, Min Du, Jun Seok Son   +5 more
wiley   +1 more source

OTUD6A‐Mediated Deubiquitination of PRDX1 Protects Against Oral Ulcer by Restoring Mitochondrial Function

Advanced Science, EarlyView.
In human oral keratinocytes, OTUD6A promoted cell migration by deubiquitinating and stabilizing PRDX1. Conversely, OTUD6A deficiency reduced PRDX1 stability, triggering mitochondrial dysfunction and aggravating OU progression. ABSTRACT Oral ulcers (OU), as the most highly prevalent and recurrent oral mucosal lesion, have an unclear pathogenesis that ...
Xiaoyu Sun, Ruiwei Jia, Xingbei Pan, Rui Huang, Jiahong Chen, Ziyi Yao, Lei Yin, Jun Ma, Hongjieliang Wang, Xinyu Huang, Yilin Ma, Yifan Ping, Yuanyuan Chen, Huining Wang, Shengbin Huang, Guang Liang   +15 more
wiley   +1 more source

A meiotic study of two translocations and a tertiary trisomic in the mouse (Mus musculus) [PDF]

, 1975
In this section, the order of the articles has not been closely followed. Each point ends with the number(s) of the article(s) (as given in the contents), where the conclusion is based on.1) Cytological meiotic studies of T(2;8)26H and T(1;13)70H ...
Boer, P., de, de Boer, P.
core  

Compound Heterozygous detected in 49 positive cases.

, 2019
Compound Heterozygous detected in 49 positive cases.
Hongsheng Chen (828171), Chang Hu (2577655), Lu Jiang (115479), Yong Feng (828176), Chufeng He (828173), Deyuan Liu (3595124), Lingyun Mei (828172), Chang Liu (35901), Hong Wu (105254), Yalan Liu (828170)   +9 more
core   +1 more source