Results 91 to 100 of about 149,249 (267)

Genetic landscape of myelodysplastic syndrome and its prognostic relevance: a study from Pakistan

Journal of the Pakistan Medical Association
Objective: To determine the genetic landscape of myelodysplastic syndrome patients, and to evaluate the impact of gene mutations on disease prognosis and overall survival.
Alia Waheed, Saleem Ahmed Khan, Rafia Mahmood, Hamid Saeed Malik, Humayoon Shafique Satti, Fehmida Farid Khan   +5 more
doaj   +1 more source

Hepatitis E Virus ORF1 Polyprotein Harbors a Pocket‐Like Cavity That Is Vital for Virus Replication and Represents a Novel Antiviral Target

Advanced Science, EarlyView.
Within the hepatitis E virus (HEV) ORF1 polyprotein, the X domain interacts with viral RNA‐dependent RNA polymerase (RdRp), forming a functional “pocket‐like” cavity (PC) that is crucial for viral replication. Structure‐based screening, surface plasmon resonance (SPR) assays, and HEV model validation collectively identify saikosaponin D and ...
Xiaohui Ding, Dou Zeng, Dan Liu, Yingying Bian, Bin Li, Zheng Li, Qiudi Li, Shiquan Liang, Yunlong Si, Qili Yao, Yibo Ding, Jiahui Zhu, Xiangyang Li, Kuiyang Zheng, Hongbo Guo, Wenshi Wang   +15 more
wiley   +1 more source

Additional file 3: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Novel POLH splice mutation in non-related XP-variant patients. A: Pedigrees of the 4 XP-variant families coming from Northern Spain and mutated in the POLH gene. The arrows indicate the four patients studied by NGS. Patients #11, 12 and 13 were homozygous for the splice mutation c.764 + 1G > A whereas patient #10 was compound heterozygous for ...
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, Laugel, Vincent   +28 more
openaire   +1 more source

FOXQ1 Regulates Brain Endothelial Mitochondrial Function by Orchestrating Calcium Signaling and Cristae Morphology

Advanced Science, EarlyView.
FOXQ1 emerges as a master transcriptional regulator of brain endothelial metabolism, orchestrating mitochondrial function through dual control of calcium signaling and cristae organization. This study reveals that brain endothelial cells rely on oxidative phosphorylation rather than glycolysis alone, challenging the current metabolic paradigm and ...
Wenzheng Zou, Yuqing Lv, Lin Li, Shukui Zhang, Jiaqi Liang, Chengchao Wu, Enyu Huang, Jianwei Jiao, Jingjing Zhang   +8 more
wiley   +1 more source

"Sequencing-grade" screening for BRCA1 variants by oligo-arrays

Journal of Translational Medicine, 2008
The need for fast, efficient, and less costly means to screen genetic variants associated with disease predisposition led us to develop an oligo-nucleotide array-based process for gene-specific single nucleotide polymorphism (SNP) genotyping.
Fasano Ross, Sabatino Marianna, Tommasi Stefania, Zhao Yingdong, Menolascina Filippo, Monaco Alessandro, Paradiso Angelo, Marincola Francesco M, Wang Ena   +8 more
doaj   +1 more source

Additional file 5: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Clinical pictures of patients #8 (A) and #9 (B) (mutated in ERCC8(CSA)). (PPTX 403 kb)
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, Laugel, Vincent   +28 more
openaire   +1 more source

Anticodon Engineered Transfer RNA (tRNASUAG) Inhibits Hepatitis B Virus Replication by Promoting the Degradation of Core Protein

Advanced Science, EarlyView.
This study employed tRNASUAG, an anticodon‐engineered tRNA (ACE‐tRNA), to introduce a phosphorylatable serine into the C‐terminal domain of HBc by reading through its stop codon, thereby potentially promoting the ubiquitin‐proteasome degradation of HBc, and subsequently inhibiting HBV replication. Through a tRNASUAG‐gHBV1‐tRNASUAG‐gHBV2‐tRNASUAG tandem
Xingwen Yang, Huiying Sun, Ziheng Luo, Qinxin Zhang, Yarong Song, Jie Li, Xiaoyun Liu, Jie Wang   +7 more
wiley   +1 more source

Additional file 7: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Clinical picture and molecular results of patients #17 (mutated in ERCC3(XPB)). A: clinical picture of patient #17. B: Patient #17 reads alignment (thanks to Alamut Visual) showing that both mutations c.296 T > C and c.325C > T were never observed on the same read. Forward reads are in green and reverse reads are in blue. (PPTX 477 kb)
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, Laugel, Vincent   +28 more
openaire   +1 more source

SCRIPT: Predicting Single‐Cell Long‐Range Cis‐Regulation Based on Pretrained Graph Attention Networks

Advanced Science, EarlyView.
SCRIPT is a novel method inferring single‐cell cis‐regulatory relationships (CRRs) from transcriptomic and chromatin accessibility data. SCRIPT incorporates two key innovations: graph causal attention networks supported by empirical CRR evidence, and representation learning enhanced through pretraining on atlas‐scale single‐cell data.
Yu Zhang, Baole Wen, Yifeng Jiao, Yuchen Liu, Xin Guo, Yushuai Wu, Jiyang Li, Limei Han, Yinghui Xu, Xin Gao, Yuan Qi, Yuan Cheng, Ying He, Weidong Tian   +13 more
wiley   +1 more source

Confocal Absorbance‐Activated Droplet Sorting (cAADS) for Enzyme Engineering

Advanced Science, EarlyView.
A custom confocal absorbance‐activated droplet sorting (cAADS) platform is presented, which confines illumination and detection to a small area on the “droplet plane”, enabling enhanced sensitivity at ultrahigh throughput. System performances and versatility are demonstrated by screening Bilirubin Oxidase encapsulated in 10 pL droplets at 5.4 kHz ...
Abdi Mirgissa Kaba, Sébastien Gounel, Thomas Beneyton, Lionel Buisson, Jean‐Christophe Baret, Nicolas Mano   +5 more
wiley   +1 more source