Results 101 to 110 of about 234,487 (302)

A review of the cost-effectiveness of genetic testing for germline variants in familial cancer

, 2022
Background: Targeted germline testing is recommended for those with or at risk of breast, ovarian and colorectal cancer. The affordability of genetic sequencing has improved over the past decade, therefore the cost-effectiveness of testing for these ...
Scuffham, Paul, Tuffaha, Haitham, Hodgkinson, Brent, Hayes, Sandi, Teppala, Srinivas   +4 more
core   +1 more source

A Personalized Haplotype‐Resolved Near‐Gapless Genome Framework for Somatic Variant Discovery in Hepatocellular Carcinoma

Advanced Science, EarlyView.
A patient‐specific, haplotype‐resolved genome framework improves detection and interpretation of somatic variants in hepatocellular carcinoma. Using multi‐platform sequencing, the personalized assembly resolves complex regions including centromeres and MHC/HLA loci, enhances structural variant discovery, and links regulatory alterations to allele ...
Jiazheng Lin, Yao Xiao, Shuangzi Luo, Yifan Li, Wenfei Zhang, Xiaoyu Zhang, Xinyi Wang, Di Wu, Jieru Hong, Yongkun Luan, Xun Huang, Yixiu Wang, Ningbo Wu, Xiaoxiao Hu, Fei Zhao, Wei Li, Xiao Luo, Bi Shi   +17 more
wiley   +1 more source

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

Advanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni, Qiancheng Zhang, Youhui Jiang, Huiying Yao, Chuqing Zhou, Xiaoyi Tian, Shiyingnan Gao, Jun Zhao, Xinyi Ren, Naxin Xu, Mengshan Fu, Liansheng Zhao, Xueyu Qi, Xueli Yu, Wanjun Guo, Sangmi Chung, Fan Guo, Tao Li   +17 more
wiley   +1 more source

TSTScope Unifies Single‐Cell Multi‐Omics to Identify Functional T Cell States Predictive of Immunotherapy Response

Advanced Science, EarlyView.
TSTScope is an interpretable AI framework that integrates single‐cell transcriptomes with TCR information through curated gene‐program constraints. By linking receptor context to functional T cell states, it reveals response‐associated tumor‐specific T cell programs in lung cancer immunotherapy cohorts and defines an MPR score associated with ...
Shiwei Cao, Jinyu Cheng, Feng‐ao Wang, Chenxin Yi, Jiajun Chen, Keyue Wang, Lulu Liu, Junwei Liu, Yixue Li   +8 more
wiley   +1 more source

Legius syndrome in fourteen families [PDF]

, 2010
Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties.
Denayer, E, Oostenbrink, R., Legius, E, Eric Legius, Van Minkelen, R, Lakeman, P, Rick Van Minkelen, Beert, E, Van Spaendonck-Zwarts, KY, Goede-Bolder, A. de, Peltonen, S., Van den Ouweland, AM, Spaendonck-Zwarts, KY, Brice, Glen, Ellen Denayer, Van den Ouweland, Ans Mw, Chmara, Magdalena, Bolder, A, Peltonen, Sirkku, Mori, T., Rankin, J., van den Ouweland, Ans, Peltonen, S, Brice, G., Brice, G, Brems, H, Ouweland, A.M.W. van den, Van den Ouweland, Ans M. W., Rankin, Julia, Bever, Yolande, Brems, Hilde, Spaendonck-Zwarts, K.Y. van, Julia Rankin, Kievit, Anneke Maat, Oostenbrink, Rianne, Eline Beert, Karin Y Van Spaendonck-Zwarts, van Bever, Yolande, Keymolen, K., Anneke Maat Kievit, Kievit, A.M., Mangold, Elisabeth, Yolande van Bever, Lakeman, Phillis, Mori, T, Arja de Goede-Bolder, Ans MW Van den Ouweland, Ende, J. van der, Phillis Lakeman, Beert, E., Legius, E., Sirkku Peltonen, Keymolen, Kathelijn, Magdalena Chmara, van Bever, Y., van der Ende, J., Ishizaki, Takuma, Mangold, E, Yoshimura, Akihiko, Van Minkelen, Rick, Beert, Eline, Keymolen, K, Legius, Eric, van Minkelen, R., Ishizaki, T., Kievit, AM, Glen Brice, Rianne Oostenbrink, van Spaendonck-Zwarts, K.Y., de Goede-Bolder, A, Denayer, Ellen, Akihiko Yoshimura, Chmara, M., Yoshimura, A, Jenneke Van den Ende, van den Ouweland, A.M.W., Denayer, E., Van Spaendonck-Zwarts, Karin Y., Van den Ende, Jenneke, Lakeman, P., Mangold, E., de Goede-Bolder, A., van Bever, Y, Van den Ende, J, Yoshimura, A., de Goede-Bolder, Arja, Elisabeth Mangold, Takuma Ishizaki, Maat-Kievit, Anneke, Bever, Y. van, Oostenbrink, R, Hilde Brems, Maat Kievit, A, Mori, Tomoaki, Tomoaki Mori, Chmara, M, Kathelijn Keymolen, Minkelen, R. van, Rankin, J, Ishizaki, T, De Goede, Arja, Van Spaendonck, Karin Y., Van Minckelen, Rick, et al., Van Den Ouweland, Ans M.W.   +104 more
core   +1 more source

Nuclear expression of Ku70/80 is associated with CHEK2 germline mutations in breast cancer

, 2023
Ku70/80 protein inhibitors reduce the repair of DNA double-strand breaks via the Ku70/80 pathway, so they can be used to treat cancers with Ku70/80 overexpression. Since the association of Ku70/80 with germline CHEK2 mutations in breast cancer is unknown,
Rosik Jakub, Machaj Filip, Bodnar Daniel, Paweł Domagała, Hybiak Jolanta, Lubiński Jan, Domagała Wenancjusz, Huzarski Tomasz, Cybulski Cezary   +8 more
core   +1 more source

Functional Sex Reversal in Adult Gonochoristic Teleosts is Mediated by Ovarian Germline Stem Cell Plasticity and Somatic Cell Transdifferentiation

Advanced Science, EarlyView.
Oocytes play crucial roles in maintaining ovarian fate in adult gonochoristic fish. Targeted oocyte ablation with aromatase inhibition triggers the activation of surviving germline stem cells and the transdifferentiation of somatic cells from granoulosa/theca to Sertoli/Leydig lineages, inducing a complete and functional female‐to‐male sex reversal ...
Yang Yang, Liechao Yu, Wanchang Zhang, Gary Wessel, Ruiyi Chen, Weihua Hu, Dongdong Xu   +6 more
wiley   +1 more source

BOULE is Essential for the Dynamic Disassembly of Heat Shock Granules in Male Germ Cells

Advanced Science, EarlyView.
BOULE orchestrates stress granule disassembly in germ cells via a two‐pronged mechanism: it promotes G3BP1 ubiquitination by upregulating TRIM27, generating a signal for VCP/FAF2 recruitment, and it maintains G3BP1 and FAF2 protein levels. BOULE deficiency disrupts disassembly complex formation, leading to impaired heat shock granule clearance ...
Xin Li, Nana Zhang, Zexin Bian, Baobao Geng, Liyun Cao, Peipei Liu, Zengming Li, Yan Zhao, Jun Tan   +8 more
wiley   +1 more source

Hypoxia inducible factor 2 alpha/insulin-like growth factor receptor signal loop supports the proliferation and Oct-4 maintenance of mouse germline stem cells

, 2017
Hypoxia inducible factor 2 alpha (HIF-2 alpha) is critical for primordial germ cell (PGC) survival as knockout of HIF-2 alpha (HIF-2 alpha(-/-)) decreases both expression of Oct-4 and PGC number in genital ridge. Hypoxia is known to stabilize HIF-2 alpha
Huang, Y. -H.;Lin, M. -H.;Wang, P. -C.;Wu, Y. -C.;Chiang, H. -L.;Wang, Y. -L.;Chang, J. -H.;Huang, Y. -K.;Gu, S. -Y.;Ho, H. -N.;Ling, T. -Y., 林泰元;何弘能   +1 more
core   +1 more source

Canonical Antibodies Adopt Distinct Binding Modes to Recognize Viral Glycan Shields

Advanced Science, EarlyView.
Canonical Y‐shaped antibodies recognize viral glycan shields through adaptive Fab assembly states shaped by glycan organization and somatic hypermutation. Structural analyses ofbroadly neutralizing antibodies VRC35 and VRC36 across glycoproteins of HIV‐1, influenza, SARS‐CoV‐2, and Lassa viruses reveal distinct Fab assembly states, spanning monovalent,
Jiaxuan Cheng, Evan M. Cale, Amirabbas Maghsoudi, Matthew S. Sutton, Nancy S. Longo, Rebecca A. Gillespie, Lingshu Wang, Ivan Kosik, Sue Chong, Atsuhiro Yasuhara, Tatsiana Bylund, Arne Schön, Prabhanshu Tripathi, Yaroslav Tsybovsky, Haotian Lei, Nicholas C. Morano, Allison B. Lupatkin, Abraham J. Morton, Zabrina C. Lang, Jordan E. Becker, Isabella R. Frascilla, Myungjin Lee, Ning Li, Cuiping Liu, Ryan S. Roark, Chen‐Hsiang Shen, I‐Ting Teng, David J. Van Wazer, Danyi Wang, Lingyuan Wu, Goran Ahlsen, Mike Castro, Haijuan Du, Michael J. Ernandes, Tiansheng Li, Bob C. Lin, Mark K. Louder, Krisha McKee, Jonah S. Merriam, Sijy O'Dell, Li Ou, Sergei Pletnev, David Prikryl, Qi Qiu, Sarah Rubin, Mallika Sastry, Stephen D. Schmidt, Asif Shajahan, Andrea R. Shiakolas, Sanjay Srivatsan, Baoshan Zhang, Qiong Zhou, Mark Connors, Jason G. Gall, Yicheng Guo, Rick K. Huang, Yaoxing Huang, Richard A. Koup, Q. Paula Lei, John R. Mascola, Reda Rawi, Leonid Serebryannyy, Lawrence Shapiro, Zizhang Sheng, David D. Ho, Patrick C. Wilson, Jonathan W. Yewdell, Theodore C. Pierson, Masaru Kanekiyo, Nicole A. Doria‐Rose, Peter D. Kwong, Tongqing Zhou   +71 more
wiley   +1 more source