Results 151 to 160 of about 2,310,607 (369)

CLinNET: An Interpretable and Uncertainty‐Aware Deep Learning Framework for Multi‐Modal Clinical Genomics

Advanced Science, EarlyView.
Identifying disease‐causing genes in neurocognitive disorders remains challenging due to variants of uncertain significance. CLinNET employs dual‐branch neural networks integrating Reactome pathways and Gene Ontology terms to provide pathway‐level interpretability of genomic alterations.
Ivan Bakhshayeshi, Mohammad Mahdi Hosseini, Ahmadreza Argha, Roxana Zahedi, Nigel H. Lovell, Hamid Alinejad‐Rokny   +5 more
wiley   +1 more source

Chromosomal abnormalities and fetal nuchal translucency in first trimester. [PDF]

, 1992
Rüdiger Pittrof, Shamim S. Majid
openalex   +1 more source

CircTspan3 Promotes Cartilage Development Through ANNEXIN A2‐Mediated Ferroptosis and Apoptosis Inhibition and Exosome‐Mediated Paracrine Signaling

Advanced Science, EarlyView.
This study reveals that XBP1s drives production of circTspan3, a circular RNA that strengthens cartilage by boosting anabolic activity and limiting cell death. Phosphorylated ANXA2 directs circTspan3 into exosomes, enabling paracrine repair. Exosomal circTspan3 expands growth‐plate cartilage and promotes in vivo regeneration, highlighting its promise ...
Yiming Pan, Fengmei Zhang, Jiayan Zhong, Qian Gong, Nana Geng, Biao Kuang, Qiumei Lan, Miao Yi, Qiqi Zeng, Cheng Chen, Mengtian Fan, Chunliang Zhao, Deping Zeng, Yu Du, Mao Nie, Zhibiao Wang, Fengjin Guo   +16 more
wiley   +1 more source

Population‐Based Multi‐Omics and Cohort Study Identifying Predictive Biomarkers and Therapeutic Targets for Psoriatic Disease

Advanced Science, EarlyView.
Psoriatic disease (PsD) is a chronic skin disease, with challenges in early risk stratification and drug development. Through gene‐level causal inference framework and expression level validation, combined with longitudinal cohort study, CDSN and PRSS8 have been identified as candidate biomarkers and therapeutic targets for PsD.
Tianxing Wu, Jialiang Luo, Haoyuan Qiu, Weijie Shao, Yueyang Lu, Meixuan Luo, Zhaofeng Lin, Yan Zhang, Libo Zhang, Hong Wang, Jia Zhou, Guangfeng Ruan, Peihua Cao, Daming Zuo   +13 more
wiley   +1 more source

The Evolutionarily Conserved TPM1 Super‐Enhancer Drives Skeletal Muscle Regeneration via Mechanotransduction Signaling

Advanced Science, EarlyView.
By integrating biomechanical and epigenetic cues, the evolutionarily conserved TPM1 super‐enhancer drives myogenesis via TEAD4‐mediated chromatin looping. This mechanism produces species‐specific outputs (linear TPM1 mRNA in mice and CircTPM1 in bovine) that activate PI3K/AKT mechanotransduction and the MYH10/MYL3 axis to execute cytoskeletal ...
Ruimen Zhang, Wanyou Feng, Yanyan Yang, Yu Pan, Chaoxia Zou, Leyi Wang, Sanbao Zhang, Yimin Zhao, Yongmei Wu, Jinling Wang, Jianwei Zou, Kehe Cen, Yongwang Zhang, Han Huang, Yurong Xu, Li Zhong, Hailong Gong, Juanru Cheng, Jingyuan Liang, Zihua Zheng, Qinyang Jiang, Jingwei Wei, Hui Li, Minhui Liang, Deshun Shi, Sufang Yang, Yanfei Deng, Yingming Wei   +27 more
wiley   +1 more source

Using Chromosomal Abnormalities and Germination Traits for the Assessment of Tritipyrum Amphiploid Lines under Seed-Aging and Germination Priming Treatments [PDF]

, 2023
Mansour Taghvaei, Hamideh Maleki, Solmaz Najafı, Hossein Shahsavand Hassani, Younes Rezaee Danesh, Beatrice Farda, Loretta Pace   +6 more
openalex   +1 more source

HiST: Histological Images Reconstruct Tumor Spatial Transcriptomics via MultiScale Fusion Deep Learning

Advanced Science, EarlyView.
HiST, a multiscale deep learning framework, reconstructs spatially resolved gene expression profiles directly from histological images. It accurately identifies tumor regions, captures intratumoral heterogeneity, and predicts patient prognosis and immunotherapy response.
Wei Li, Dong Zhang, Eryu Peng, Shijun Shen, Hamid Alinejad‐Rokny, Yao Liu, Junke Zheng, Cizhong Jiang, Youqiong Ye   +8 more
wiley   +1 more source

Multiple Myeloma : an update on disease biology and therapy [PDF]

, 2004
Multiple myeloma is a malignancy of immunoglobulin producing plasma cells. Clinical features include bone pain due to lytic bone lesions or pathological fractures, anemia, symptomatic hypercalcemia, renal insufficiency, recurrent infections and ...
Cook, Rachel J., Dingli, David
core  

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid [PDF]

, 2006
Shoko Miura, Kiyonori Miura, Hideaki Masuzaki, Noriko Miyake, Koh-ichiro Yoshiura, Nadiya Sosonkina, Naoki Harada, Osamu Shimokawa, Daisuke Nakayama, Shuichiro Yoshimura, Naomichi Matsumoto, Norio Niikawa, Tadayuki Ishimaru   +12 more
openalex   +1 more source

HMGB2–RAD21 Axis Promotes Fibro/Adipogenic Progenitor Proliferation and Regulates Fat Infiltration

Advanced Science, EarlyView.
This study constructed the first developmental atlas of embryonic skeletal muscle fibro/adipogenic progenitors (FAPs) and identified an HMGB2+ FAPs subpopulation that regulates FAP pool size and muscle homeostasis. HMGB2 directly targets the RAD21 promoter, and its knockout significantly reduces FAP numbers, thereby lowering the potential for ...
Xian Tong, Ziyun Liang, Tianqi Duo, Liping Pan, Qi Zhu, Jiete Liang, Xianyao Luo, Qingcai Feng, Rong Xu, Yihao Liu, Xu Chen, Luxi Chen, Xiaohong Liu, Yaosheng Chen, Delin Mo   +14 more
wiley   +1 more source