Results 131 to 140 of about 176,215 (308)

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

, 2011
Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases.
ELÇİOĞLU, HURİYE NURSEL
core   +1 more source

FUCA2 Sustains AKT Signaling and Suppresses Senescence by Antagonizing FUT3‐Mediated ErbB3 Fucosylation in Lung Adenocarcinoma

Advanced Science, EarlyView.
ABSTRACT While targeted therapies have improved outcomes in lung adenocarcinoma (LUAD), many patients still lack targetable mutations. Here, we identified alpha‐L‐fucosidase 2 (FUCA2) as a crucial driver of LUAD by preventing cellular senescence. Mechanistically, through the restriction of fucosyltransferase 3 (FUT3)‐mediated α‐1,3‐fucosylation of ...
Lu Chen, Jintao Guo, Fei Li, Mingjie Gao, Runyang Li, Zhaozhang Huang, Yaolin Zheng, Chunyi Gao, Jihuan Hou, Qiang Yu, Bowen Zheng, Xuemei Chen, Wenqing Zhang, Xiaoting Hong, Yali Zheng, Daxuan Wang, Qiyuan Li, Tianhui Hu, Yan‐yan Zhan   +18 more
wiley   +1 more source

Mitochondrial Carrier SLC25A13 Drives Ferroptosis Resistance and Immune Evasion via a STAT3–IFI6 Circuit in Breast Cancer

Advanced Science, EarlyView.
SLC25A13 is identified as an immunometabolic driver of triple‐negative breast cancer that sustains ferroptosis resistance and immune evasion through a STAT3–IFI6 circuit. Pharmacologic degradation of SLC25A13 restores ferroptosis sensitivity and enhances anti‐PD‐1 efficacy, highlighting a strategy to convert immune‐cold tumors into immunotherapy ...
Yingze Zhu, Yuhan Tang, Yingcui Chen, Zhuoqi Zhang, Yige Lu, Xinyue Wang, Qiyuan Shi, Wenhui Zhao, Hui Pang   +8 more
wiley   +1 more source

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

, 2015
Wei-Xue Jia,1,2 Xue-Min Xiao,1,2 Jian-Bing Wu,1,2 Yi-Ping Ma,1,2 Yi-Ping Ge,1,2 Qi Li,1,2 Qiu-Xia Mao,1,2 Cheng-Rang Li1,2 1Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China; 2Jiangsu
Mao QX, Jia WX, Wu JB, Ma YP, Li Q, Xiao XM, Li CR, Ge YP   +7 more
core  

Combining Radiation‐Treated Tumor Vaccines With Mn‐MOF Nanoadjuvants to Amplify Radiation Induced Anti‐Tumor Immune Responses

Advanced Science, EarlyView.
Radiotherapy‐treated tumor membranes are integrated with Mn‐MOF nanoadjuvants to generate Mn@RM, a lymph node‐draining nanovaccine that delivers radiotherapy‐remodeled antigenic components. Mn@RM enhances dendritic cell activation, amplifies T cell‐mediated antitumor immunity, and synergizes with radiotherapy and PD‐1 blockade for combination cancer ...
Yiyu Wang, Qiqi Qi, Dezhong Li, Jingshi Tang, Weifeng Wang, Zushun Xu, Qi Xu, Fangfang Du, Qianyuan He   +8 more
wiley   +1 more source

A Foundation Model Based CT Biomarker for Non‐Invasive Prediction of Response to Neoadjuvant Immunochemotherapy in Non‐Small Cell Lung Cancer

Advanced Science, EarlyView.
This study introduces a foundation model‐based biomarker for risk stratification of pathological response in non‐small cell lung cancer. A Vision Mamba super‐resolution model standardizes heterogeneous CT images. A multi‐task Swin Transformer then fine‐tunes a pre‐trained lung foundation model to jointly optimize tumor segmentation and response ...
Yanglan Xu, Shuchang Zhou, Qin Peng, Xiao Bao, Xiaodan Ye, Ahmet Görkem Er, Tong Tong, Mirabela Rusu, Yajia Gu, Mailin Chen, Jing Gong   +10 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

International Journal of Endocrinology, 2018
Objective. Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT. Methods.
Lei Kong, Dongxu Wang, Shanshan Li, Chengsheng Zhang, Xiuyun Jiang, Qingbo Guan, Zhenlin Zhang, Fei Jing, Jin Xu   +8 more
doaj   +1 more source

Missense Mutation in AR-CGD

, 2012
Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known nicotinamide adenine dinucleotide phosphate (NADPH) -oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to
M. Yavuz, Huseyin Avcilar
openaire   +2 more sources

Clinically Informed Intelligent Classification of Ovarian Cancer Cells by Label‐Free Holographic Imaging Flow Cytometry

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Quantitative phase maps of single cells recorded in flow cytometry modality feed a hierarchical architecture of machine learning models for the label‐free identification of subtypes of ovarian cancer. The employment of a priori clinical information improves the classification performance, thus emulating the clinical application of liquid biopsy during ...
Daniele Pirone, Beatrice Cavina, Daniele Gaetano Sirico, Martina Mugnano, Vittorio Bianco, Lisa Miccio, Anna Myriam Perrone, Anna Maria Porcelli, Giuseppe Gasparre, Ivana Kurelac, Pasquale Memmolo, Pietro Ferraro   +11 more
wiley   +1 more source