Results 81 to 90 of about 22,140 (207)

Opposing role of phagocytic receptors MERTK and AXL in Progranulin deficient FTD

Communications Biology
Genetic mutations in the progranulin gene, GRN, cause frontotemporal dementia and a lysosomal storage disorder. Using single-nuclei RNA sequencing of the post-mortem brain tissue from adult heterozygous pathogenic granulin variant (GRN+/−) carriers we ...
Claire Dudley Clelland, Li Fan, Rowan Saloner, Jon Iker Etchegaray, Chad Richard Altobelli, Sally Salomonsson, Alisha M. Maltos, Aradhana Sachdev, Jingjie Zhu, Se-In Lee, Yaqiao Li, Yungui Zhou, David Le, Chao Wang, Gillian Carling, Lay Kodama, Faten Sayed, Jaun A. Perez-Bermejo, Ethan G. Geier, Jennifer S. Yokoyama, Howie Rosen, Alissa L. Nana, Salvatore Spina, Lea T. Grinberg, William W. Seeley, Fanny Elahi, Adam L. Boxer, Michelle R. Arkin, Li Gan   +28 more
doaj   +1 more source

Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency

Molecular Neurodegeneration, 2018
Background Loss of function mutations in progranulin (GRN) are a major cause of frontotemporal dementia (FTD). Progranulin is a secreted glycoprotein that localizes to lysosomes and is critical for proper lysosomal function.
Andrew E. Arrant, Alexandra M. Nicholson, Xiaolai Zhou, Rosa Rademakers, Erik D. Roberson   +4 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Transcriptional regulatory network analysis identifies GRN as a key regulator bridging chemotherapy and immunotherapy response in small cell lung cancer

Journal of Hematology & Oncology
Small cell lung cancer (SCLC) is an aggressive and heterogeneous subtype, representing 15% of lung cancer cases. Although SCLC initially responds to etoposide and platinum (EP) chemotherapy, nearly all patients relapse with resistant tumors. While recent
Seungyeul Yoo, Ayushi S. Patel, Sarah Karam, Yi Zhong, Li Wang, Feng Jiang, Ranran Kong, Sharon Bikvan, Wenhui Wang, Abhilasha Sinha, Charles A. Powell, Jun Zhu, Hideo Watanabe   +12 more
doaj   +1 more source

GTAT-GRN: a graph topology-aware attention method with multi-source feature fusion for gene regulatory network inference

Frontiers in Genetics
Gene regulatory network (GRN) inference is a central task in systems biology. However, due to the noisy nature of gene expression data and the diversity of regulatory structures, accurate GRN inference remains challenging. We hypothesize that integrating
Shuran Wang, Shuran Wang, Shuran Wang, Lilian Zhang, Lilian Zhang, Lilian Zhang, Lutao Gao, Lutao Gao, Lutao Gao, Yao Rao, Yao Rao, Yao Rao, Jie Cui, Jie Cui, Jie Cui, Linnan Yang, Linnan Yang, Linnan Yang   +17 more
doaj   +1 more source

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

BMC Neurology, 2017
Background Progranulin gene (GRN) mutations are major causes of frontotemporal lobar degeneration. To date, 68 pathogenic GRN mutations have been identified. However, very few of these mutations have been reported in Asians.
Takashi Hosaka, Kazuhiro Ishii, Takeshi Miura, Naomi Mezaki, Kensaku Kasuga, Takeshi Ikeuchi, Akira Tamaoka   +6 more
doaj   +1 more source

Nanopore direct RNA sequencing and the epitranscriptome: Advances in mapping native RNA landscapes

iMeta, EarlyView.
Nanopore direct RNA sequencing advances transcriptomics by capturing full‐length transcripts and multiple RNA modifications; this review details its principles, workflows, tools, applications, challenges, and future research potential. Abstract Nanopore direct RNA sequencing (DRS) has transformed transcriptomics by enabling single‐molecule, long‐read ...
Tianyuan Zhang, Jia Li, Chao Tang, You Wu, Hao Wu, Xi‐Tong Zhu, Ziyang Luo, Hang Qin, Lishan Ding, Yu Zeng, Shiou Yih Lee, Xiaotao Shen, Shiwen Gao, Zhaoyang Tian, Qian Tang, Mian Li, Muhammad Tahir Ul Qamar, Yang Dong, Komivi Dossa, Yaxuan Zhang, Hu Chen, Sanqi An, Xiang Yu, Lu Chen, Dingjie Wang, Shengli Li, Ling‐Ling Chen, Yanqiang Li   +27 more
wiley   +1 more source

GRN-Transformer: Enhancing Motion Artifact Detection in PICU Photoplethysmogram Signals [PDF]

, 2023
This study investigates artifact detection in clinical photoplethysmogram signals using Transformer-based models. Recent findings have shown that in detecting artifacts from the Pediatric Critical Care Unit at CHU Sainte-Justine (CHUSJ), semi ...
LE, Thanh-Dung
core  

Calpain Proteases and the Evolving Signaling Network in Insect Embryonic Patterning

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Insect embryonic Dorsal‐Ventral (DV) patterning relies on the BMP and Toll pathways to different extents. Calcium‐dependent cystein proteases of the Calpain family also exert an important function to pattern the DV axis. In Drosophila, Calpain A cleaves the Cactus/IkappaB inhibitor and modifies Toll signals in ventral regions of the embryo. In Rhodnius
Alison Julio, Helena Araujo
wiley   +1 more source

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo, Per Borghammer, Inas Elsayed, Jennifer G. Goldman, Yue Huang, Katja Lohmann, Per Svenningsson, Lorraine V. Kalia, Daniela Berg, Jeffrey H. Kordower, the MDS Scientific Issues Committee   +10 more
wiley   +1 more source