Results 91 to 100 of about 124,431 (304)

EEPD1 Inhibition Unleashes Antitumor Immunity in Colorectal Cancer by Activating the cGAS‐STING Pathway

Advanced Science, EarlyView.
In colorectal cancer, high expression of the DNA repair protein EEPD1 correlates with immune exclusion and poor prognosis. This study demonstrates that EEPD1 depletion induces genomic instability, leading to cytosolic DNA accumulation and subsequent activation of the cGAS‐STING‐type I interferon pathway. This cascade remodels the tumor microenvironment
Liyun Huo, Chong Wu, Xiaobo Li, Caina Ma, Jiamin Huang, Zishuo Chen, Weiling He, Tianyu Tao, Weijing Zhang   +8 more
wiley   +1 more source

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy

, 2016
Background: Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe inherited retinal disorder characterized by incomplete retinal vascular development and neovascularization. At least five genes have been reported to be associated with FEVR,
Qu, C, Zhu, XJ, Li, SJ, Di, YA, Zhu, XJ (reprint author), Sichuan Prov Peoples Hosp, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China., Sundaresan, P, Liu, YQ, Tai, ZF, Li, YF, Yang, YM, Jiang, ZL, Zhu, XJ (reprint author), Hosp Univ Elect Sci & Technol China, Sch Med, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China., Zhang, L, Kim, R, Huang, LL, Yang, ZL, Zhu, X, Zhang, GL   +17 more
core   +1 more source

CHD2 variants are a risk factor for photosensitivity in epilepsy. [PDF]

, 2015
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2
Cantonetti, L., Muhle, H., Thiele, H., Lench, N, Krishna Chinthapalli, V, Krause, R, Sadleir, L. G., Gaudio, L.D., Moller, R. S., EURO Epinomics CoGIE Consortium, Afrikanova, T, Jocic-Jakubi, B., Capovilla, G., Myers, C., Myers, C. T., Sadleir, LG, Muhle, H, Nürnberg, P, Helbig, I., Parisi, P., EuroEPINOMICS CoGIE Consortium,, Pendziwiat, M., Stephani, U., Coppola, A., Kasteleijn-Nolst Trenité, D.G.A., Myers, CT, Chinthapalli, V. K., Krishna Chinthapalli, V., Stephani, U, Del Gaudio, L., de Kovel, C.G.F., Scheffer, I.E., De Kovel, CGF, Chinthapalli, VK, Veggiotti, P., Lehesjoki, AE, Jacmin, M., Drury, S., Piccioli, M., Berkovic, S. F., Esguerra, C., Trenite, D., Martins, T.G., Chinthapalli, V., Thiele, H, Kasteleijn-Nolst Trenité, DG, Lehesjoki, A., Crawford, A., Boustred, C., Lerche, H, Moller, R., Galizia, E. C., Ruppert, A. -K., Helbig, I, Schubert, J, Schneider, A. L., Mefford, H.C., Crawford, AD, Schubert, J., Schneider, A.L., Veggotti, P, Esguerra, CV, Striano, S., Ruppert, A., Berkovic, S., Galizia, EC, Cordero-Maldonado, M., Leu, C., Mefford, H. C., Martins, T. G., Palotie, A, Crawford, A. D., Ruppert, A.K., Covanis, A., Sisodiya, S., Ruppert, AK, Cordero-Maldonado, M. L., Møller, RS, Esguerra, C. V., Trenité, D. G. A. K. -N., Schneider, A., Coppola, A, Cantonetti, L, Leu, C, Del Gaudio, L, Cordero-Maldonado, ML, De Kovel, C. G. F., Berkovic, SF, Mullen, S. A., Trenité, DGAKN, Martins, T., Koeleman, BPC, Jacmin, M, Covanis, A, Boustred, C, Moller, RS, Martins, TG, Sisodiya, SM, Koeleman, B., Sander, T, Mullen, S.A., Sander, T., Nürnberg, P., Lehesjoki, A.E., Berkovic, S.F, Sisodiya, S.M., Mullen, SA, Cordero-Maldonado, M.L., Sadleir, L.G., Palotie, A., Pendziwiat, M, Parisi, P, Capovilla, G, Scheffer, I., Koeleman, BP, Gaudio, LD, Lerche, H., Mullen, S., Veggiotti, P, Myers, C.T., Scheffer, I. E., Koeleman, B. P. C., De Kovel, C., Piccioli, M, Esguerra, C.V., Sisodiya, S. M., Lehesjoki, A. -E., Afrikanova, T., de Kovel, CG, Mefford, HC, Koeleman, B.P.C., Drury, S, Scheffer, IE, Galizia, E.C., Schneider, AL, Mefford, H., Møller, R.S., Krause, R., Galizia, E., Crawford, A.D., Striano, S, Jocic-Jakubi, B, Lench, N., Sadleir, L.   +143 more
core   +1 more source

Characteristics of study sample for whole exome sequencing.

, 2022
Characteristics of study sample for whole exome sequencing.
Pingxing Xie (290131), Ian R. White (7774799), Thomas J. Urban (12407197), Sarah E. Kleinstein (10983185), Jessica M. Maia (12407194), Chris Chamberlain (12407191), Duncan McHale (6380621), Christophe Praet (12407188), David B. Goldstein (7949105), Patrick R. Shea (12407200)   +9 more
core   +1 more source

A Non‐Canonical Core Transcriptional Regulatory Circuit Orchestrates Chromatin Reprogramming to Drive Osimertinib Resistance in Non‐Small Cell Lung Cancer

Advanced Science, EarlyView.
A non‐canonical core transcriptional regulatory circuit, composed of ID3, SMAD3, and NR2F2, drives Osimertinib resistance in non‐small cell lung cancer through super‐enhancer‐mediated activation of EPAS1, which couples neuroendocrine differentiation with ferroptosis evasion.
Aochu Liu, Zhenguo Liu, Lizhen Jiang, Andong Huang, Xinqing Lin, Xinyue Li, Bingyuan Liu, Shiwen Hu, Qiang Pan, Junjun Huang, Liyuan Yin, Liling Jiang, Wei Yi, Wenjun Mao, Yueyuan Zheng, Xianping Shi   +15 more
wiley   +1 more source

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

Whole Exome Sequencing of Chronic Myeloid Leukemia Patients

Iranian Journal of Public Health, 2016
Background: Previous studies have shown that leukemogenic chromosomal translocations, including fusions between Break point Cluster Region (BCR) and Abelson (ABL) are present in the peripheral blood of healthy individuals.
Shaghayegh SABRI, Manouchehr KEYHANI, Mohammad Taghi AKBARI   +2 more
doaj  

Advances in Gastric Cancer Research: Insights Into Carcinogenesis, the Tumor Microenvironment, Metastasis, and Factors Influencing Prognosis

Annals of Gastroenterological Surgery, EarlyView.
ABSTRACT Background The Department of Gastroenterological Surgery at Kumamoto University has maintained a commitment to integrating cutting‐edge clinical practice with fundamental research, particularly concerning malignant diseases of the digestive tract.
Hideo Baba, Takatsugu Ishimoto, Yoshifumi Baba, Hiromitsu Hayashi, Masaaki Iwatsuki   +4 more
wiley   +1 more source

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

BMC Pregnancy and Childbirth
Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice.
Pengzhen Jin, Jiawei Hong, Yuqing Xu, Yeqing Qian, Shuning Han, Minyue Dong   +5 more
doaj   +1 more source

Whole genome and exome sequencing of melanoma

, 2012
Melanoma has historically been refractive to traditional therapeutic approaches. As such, the development of novel drug strategies has been needed to improve rates of overall survival in patients with melanoma, particularly those with late stage or ...
Ken Dutton-Regester, Dutton-Regester, Ken, Hayward, Nicholas K., Nicholas K. Hayward   +3 more
core   +1 more source