Results 131 to 140 of about 575,297 (315)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Chromosomal-level reference genome of the moth Heortia vitessoides (Lepidoptera: Crambidae), a major pest of agarwood-producing trees

, 2022
The moth Heortia vitessoides Moore (Lepidoptera: Crambidae) is a major pest of ecologically, commercially and culturally important agarwood-producing trees in the genus Aquilaria. In particular, H.
T Baril (21908606), JHL Hui (21914924), SS Tobe (21945164), CB Chan (21945176), A Hayward (7736006), WG Bendena (21945167), STS Law (21914909), WL So (21923678), W Nong (16351416), T Swale (21914915), Z-P Kai (21945170)   +10 more
core  

Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities

Advanced Science, EarlyView.
ABSTRACT Glioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis. CIN is characterized by numerical and structural alterations, is driven by mechanisms such as mitotic ...
Amarnath Pal, Milan Patra, Rianita Mondal, Shubhasis Haldar   +3 more
wiley   +1 more source

Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities

Frontiers in Genetics
Fetal chromosomal abnormalities are the main cause of adverse pregnancy outcomes and are the focus of invasive prenatal diagnosis. Recent studies have demonstrated that various techniques have distinct advantages.
Yunsheng Ge, Jiayan Chen, Yanru Huang, Di Shao, Wenbo Wang, Meijiao Cai, Meihua Tan, Meihua Tan, Jian Zhang   +8 more
doaj   +1 more source

Interactions of Antibody Drug Conjugate Anti‐Tubulin and Topoisomerase I Inhibitor Payloads with Radiotherapy to Potentiate Immunotherapy

Advanced Science, EarlyView.
Antibody drug conjugates deliver their cytotoxic anti‐tubulin or topoisomerase I inhibitor payloads to tumors through cancer cell receptor targeting. The released drug payloads induce cellular changes that interact with radiotherapy resulting in radiosensitization that improves cancer cell kill and stimulates anti‐tumor immune responses.
Jacqueline Lesperance, Bryan S. Yung, Michael M. Allevato, Marcus M Cheng, Maria F. Camargo, Robert Saddawi‐Konefka, Kanika Dhawan, Ashwyn K. Sharma, Mahsa Mortaja, Sophie Bice, Daniel J. Scanderbeg, Diego Alvarado, Jyoti Mayadev, Ramez N. Eskander, Stephen R. Adams, Pippa F. Cosper, J. Silvio Gutkind, Sunil J. Advani   +17 more
wiley   +1 more source

The Genetic Of Mental Retardation [PDF]

, 2005
Mental retardation is a common problem with major implications for a nation’s health, education and community services. The causes of mental retardation have been found to have a definite etiological basis, which may be biochemical, chromosomal ...
Faradz, Sultana M.H.
core  

Anti‐PD‐1 Nanobody‐Armored MSLN CAR‐T Therapy for Malignant Mesothelioma: Preclinical and Clinical Studies

Advanced Science, EarlyView.
A novel therapy using engineered immune cells (NAC‐T cells) showed promise for refractory malignant mesothelioma. Based on the encouraging preclinical data, the first‐in‐human trial is initiated, demonstrating tolerable safety and promising anti‐tumor activity (ORR 63.6%, DCR 100%, including one CR).
Yan Sun, Haochen Yang, Qing Xu, Xingya Li, Jinxing Lou, Jianchun Duan, Jiachen Xu, Zhuqing Liu, Yong Xia, Zhicai Lin, Linlin Li, Dan Sun, Jiaguo Li, Tao Liu, Jun Guo, Wenfeng Xu, Weimin Zhu, Yi Liu, Boyang Sun, Jia Zhong, Lijie Rong, Qijun Qian, Chenqi Xu, Jie Wang   +23 more
wiley   +1 more source

A comparative genomic analysis at the chromosomal-level reveals evolutionary patterns of aphid chromosomes

Communications Biology
Genomic rearrangements are primary drivers of evolution, promoting biodiversity. Aphids, an agricultural pest with high species diversity, exhibit rapid chromosomal evolution and diverse karyotypes.
Chen Huang, Bingru Ji, Zhaohui Shi, Jiangyue Wang, Jiaqing Yuan, Peng Yang, Xiao Xu, Haohao Jing, Lulu Xu, Jing Fu, Le Zhao, Yandong Ren, Kun Guo, Gang Li   +13 more
doaj   +1 more source