Results 131 to 140 of about 1,412,344 (374)

Comprehensive Characterization of the Immune Microenvironment Based on Nested Resampling Machine Learning Framework Identifies TRAF3 Interacting Protein 3 as a Promising Regulator to Improve the Resistance to Immunotherapy in Glioma

Advanced Science, EarlyView.
This study develops a nested resampling machine learning framework to establish the Immune Glioma Survival Signature (IGLoS), which stratifies glioma patients and predicts immunotherapy resistance. Multi‐omics analyses reveal TRAF3IP3 as a pivotal regulator of PD‐L1 expression and T‐cell exhaustion via ERK‐NFATC2 signaling.
Yanbo Yang, Fei Wang, Yulian Zhang, Run Huang, Chuanpeng Zhang, Lu Zhao, Hanhan Dang, Xinyu Tao, Yue Lu, Dengfeng Lu, Yunsheng Zhang, Kun He, Jiancong Weng, Zhouqing Chen, Zhong Wang, Yanbing Yu   +15 more
wiley   +1 more source

Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.

PLoS Genetics, 2014
When two mutations, one dominant pathogenic and the other "confining" nonsense, coexist in the same allele, theoretically, reversion of the latter may elicit a disease, like the opening of Pandora's box.
Yasushi Ogawa, Takuya Takeichi, Michihiro Kono, Nobuyuki Hamajima, Toshimichi Yamamoto, Kazumitsu Sugiura, Masashi Akiyama   +6 more
doaj   +1 more source

Genome-wide SNP scan of pooled DNA reveals nonsense mutation in FGF20 in the scaleless line of featherless chickens

BMC Genomics, 2012
BackgroundScaleless (sc/sc) chickens carry a single recessive mutation that causes a lack of almost all body feathers, as well as foot scales and spurs, due to a failure of skin patterning during embryogenesis.
K. Wells, Y. Hadad, D. Ben-Avraham, J. Hillel, A. Cahaner, D. Headon   +5 more
semanticscholar   +1 more source

Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia [PDF]

, 2012
Hereditary haemorrhagic telangiectasia (HHT) is a disease characterised by abnormal vascular structures, and most commonly caused by mutations in ENG, ACVRL1 or SMAD4 encoding endothelial cell-expressed proteins involved in TGF-β superfamily signalling ...
Begbie, ME, Game, L, Giess, A, Govani, FS, Jones, MD, Mollet, IG, Shovlin, CL   +6 more
core   +1 more source

Training‐Free Regulation of Grasping by Intracortical Tactile Feedback Designed via S1‐M1 Communication

Advanced Science, EarlyView.
During object grasping in macaques, information flow between the primary sensory cortex (S1) and the primary motor cortex (M1) is modulated by tactile properties of the target. Intracortical micro‐stimulation in S1 reliably evokes M1 responses that resemble those naturally generated during grasping under specific tactile conditions.
Qi Zhang, Bing Liu, Zhemeng Wang, Jiayue Zhou, Xingyi Yang, Qian Zhou, Yuwei Zhao, Siwei Li, Jin Zhou, Changyong Wang   +9 more
wiley   +1 more source

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Orphanet Journal of Rare Diseases, 2012
BackgroundUsher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP).
T. Eisenberger, R. Slim, A. Mansour, M. Nauck, G. Nürnberg, P. Nürnberg, C. Decker, C. Dafinger, I. Ebermann, C. Bergmann, H. Bolz   +10 more
semanticscholar   +1 more source

Exposing the human nude phenotype [4] [PDF]

, 1999
Peer reviewedSubmitted ...
Ahmad, W., Aita, V. M., Baden, H., Brissette, J. L., Christiano, A. M., Cserhalmi-Friedman, P. B., Frank, J., Gaetaniello, L., Gordon, D., Ott, J., Panteleyev, A. A., Pignata, C., Pozzi, N., Prowse, David M., Uyttendaele, H., Weiner, L.   +15 more
core   +1 more source

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]

, 2015
PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L, Austin, Cecilia, Awad, Issam A, De Souza, Jorge Marcondes, Gallione, Carol J, Gunel, Murat, Lee, Connie, Marchuk, Douglas A, McDonald, David A, Mikati, Abdul Ghani, Min, Wang, Rebeiz, Tania, Rorrer, Autumn, Shenkar, Robert, Shi, Changbin, Stockton, Rebecca A, Zhang, Lingjiao   +16 more
core   +2 more sources

AntiBMPNN: Structure‐Guided Graph Neural Networks for Precision Antibody Engineering

Advanced Science, EarlyView.
AntiBMPNN, a deep learning framework that integrates antibody‐specific 3D data, MPNN, frequency‐based scoring, and AlphaFold 3, achieves superior antibody sequence design. In most cases, it outperforms ProteinMPNN, AntiFold, and AbMPNN in CDR design, demonstrating higher binding affinities and sequence recovery.
Ze‐Yu Sun, Jiayi Yuan, Divya Jaiswal, Jingxuan Ge, Tianjian Liang, Jiahui Wei, Jinghong Cao, Yulong Li, Xiaojie Chu, Yan Chen, Ying Xue, Wei Li, Tingjun Hou, Zhiwei Feng   +13 more
wiley   +1 more source