Results 201 to 210 of about 3,184,218 (349)

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

HIC1 suppresses Tumor Progression and Enhances CD8+ T Cells Infiltration Through Promoting GSDMD‐induced Pyroptosis in Gastric Cancer

Advanced Science, EarlyView.
These findings elucidate the innovative role of HIC1 as a transcriptional activator in GC, driving the initiation of pyroptosis and enhancing CD8+ T cell infiltration, which has certain novelty and creative significance. Collectively, targeting HIC1 can present an appealing immunotherapeutic strategy to improve outcomes in GC patients.
Mengjie Kang, Wenqi Du, Lina Ding, Mengdi Wu, Dongsheng Pei   +4 more
wiley   +1 more source

Intratumoral heterogeneity of cancer driver genomic alterations in myxoid liposarcomas. [PDF]

Cancer
Schmid A, Eisenhardt AE, Bogner B, Runkel A, Lausch U, Pauli T, Antolini LN, Boneberg A, Kiefer J, Bronsert P, Boerries M, Eisenhardt SU, Braig D.   +12 more
europepmc   +1 more source

DNA‐PKcs‐Driven YAP1 Phosphorylation and Nuclear Translocation: a Key Regulator of Ferroptosis in Hyperglycemia‐Induced Cardiac Dysfunction in Type 1 Diabetes

Advanced Science, EarlyView.
In the context of chronic hyperglycemia, a DDR is initiated, leading to the pathological activation of DNA‐PKcs in the diabetic heart. This activated DNA‐PKcs directly interacts with and phosphorylates YAP1 at Thr226, thereby increasing the nuclear expression of YAP1.
Junyan Wang, Xing Chang, Chun Li, Jing Gao, Zhijiang Guo, Haowen Zhuang, Lingjun Wang, Yusheng Huang, Wei Wang, Chao Li, Qingyong He   +10 more
wiley   +1 more source

Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing. [PDF]

NPJ Genom Med
Jiang L, Mai Z, Peng J, Du T, Wang W, Chen X, Jiang C, Luo Y, Chen H, Song L, Ouyang N, Chen C, Yuan P.   +12 more
europepmc   +1 more source

Genetics‐Based Targeting Strategies for Precise Neuromodulation

Advanced Science, EarlyView.
In this Review, the fundamental principles and implementation protocols of genetics‐based precision neuromodulation are first introduced. Then, wireless and low‐invasive strategies based on nano‐transducing materials are highlighted, along with a dissection and analysis of the strengths and weaknesses of representative studies.
Yuyuan He, Zhidong Wei, Jianda Xu, Fei Jin, Tong Li, Lili Qian, Juan Ma, Weiying Zheng, Negar Javanmardi, Ting Wang, Kangjian Sun, Zhang‐Qi Feng   +11 more
wiley   +1 more source

Cgsim: An R Package for Simulation of Population Genetics for Conservation and Management Applications. [PDF]

Mol Ecol Resour
Zimmerman SJ, Oyler-McCance SJ.
europepmc   +1 more source

Preimplantation genetic diagnosis for an insertional translocation [PDF]

Human Reproduction, 2005
openaire   +2 more sources

The Nuclear Localization of ACLY Guards Early Embryo Development Through Recruiting P300 and HAT1 to Promote Histone Acetylation and Transcription

Advanced Science, EarlyView.
ACLY is vital for early embryo development. IGF‐1 activates AKT to phosphorylate ACLY, driving its nuclear localization and recruitment of HATs (P300/HAT1), boosting acetyl‐CoA production and histone acetylation for transcriptional activation. Conversely, ACLY deficiency (via knockdown, knockout, or AKT inhibition) reduces nuclear acetyl‐CoA, disrupts ...
Yerong Ma, Yingyi Zhang, Weijie Yang, Xiaomei Tong, Siya Liu, Yan Zhou, Mengjia Qiu, Huifang Jiang, Zhanhong Hu, Peipei Ren, Yan Rong, Mengru Lai, Jiamin Jin, Fei Huang, Liujian Ouyang, Feng Zhou, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang   +18 more
wiley   +1 more source

Strategies for integrating animal social learning and culture into conservation translocation practice. [PDF]

Philos Trans R Soc Lond B Biol Sci
Greggor AL, de Silva S, Brown C, Jesmer BR, Noble DWA, Mueller T, Ruiz-Miranda CR, Rutz C, Scott SE, Williams J.   +9 more
europepmc   +1 more source