Results 101 to 110 of about 236,698 (345)

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

Human Mutation, Volume 43, Issue 12, Page 1844-1851, December 2022., 2022
Abstract TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease genes in human developmental disorders.
Beau D. E. Janssen, Marie‐Jose H. van den Boogaard, Klaske Lichtenbelt, Eleanor G. Seaby, Karen Stals, Sian Ellard, Ruth Newbury‐Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V. Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J. Holwerda, Koen van Gassen, Richard H. van Jaarsveld   +20 more
wiley   +1 more source

Investigating the causal impact of gut microbiota on glioblastoma: a bidirectional Mendelian randomization study

BMC Genomics, 2023
Background Currently, the influence of microbiota on the occurrence, progression, and treatment of cancer is a topic of considerable research interest. Therefore, based on the theory of the gut-brain axis proved by previous studies, our objective was to ...
Chuan Zeng, Chaolong Zhang, Chunming He, Haimin Song   +3 more
doaj   +1 more source

ISG15 Enhances the Activity of γ‐Glutamate Cysteine Ligase to Suppress Apoptosis in High Fat Diet‐Promoted Hepatocellular Carcinoma

Advanced Science, EarlyView.
Hepatocellular carcinoma (HCC) cells under high‐fat environment constrain harmful reactive oxygen species (ROS) by enhancing glutathione synthesis though upregulating interferon stimulated gene 15 (ISG15). In this process, upregulated high mobility group A1 (HMGA1) enhances ISG15 transcription, upregulated ISG15 subsequently noncovalently binds with ...
Xinran Liu, Qiujin Ma, Zhao Jia, Yihao Zhou, Churong Zou, Yushuo Xiao, Yuchen Chen, Chuyao Ma, Liangliang Song, Jing Yang, Chen Wang, Huidie Xu, Hong Chen, Jiajian Shi, Junqiu Yue, Yu Sun, Desheng Hu, Robert B Petersen, Yangkai Li, Anlin Peng, Kun Huang, Ling Zheng   +21 more
wiley   +1 more source

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest

Human Mutation, Volume 43, Issue 12, Page 1909-1920, December 2022., 2022
Abstract The subcortical maternal complex (SCMC), composed of several maternal‐effect genes, is vital for the development of oocytes and early embryos. Variants of SCMC‐encoding genes (NLRP2, NLRP5, TLE6, PADI6, and KHDC3L, but not OOEP and ZBED3) are associated with human oocyte maturation dysfunction, fertilization failure, and early embryonic arrest.
Xiaomei Tong, Jiamin Jin, Zhanhong Hu, Yingyi Zhang, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang   +6 more
wiley   +1 more source

Mendelian randomisation studies for causal inference in chronic obstructive pulmonary disease: A narrative review

Pulmonology
Background and objective Most non-randomised controlled trials are unable to establish clear causal relationships in chronic obstructive pulmonary disease (COPD) due to the presence of confounding factors.
Zizheng Chen, Yuqiong Yang, Chusheng Peng, Zifei Zhou, Fengyan Wang, Chengyu Miao, Xueping Li, Mingdie Wang, Shengchuan Feng, Tingnan Chen, Rongchang Chen, Zhenyu Liang   +11 more
doaj   +1 more source

Mechanical Load‐Induced Upregulation of Talin2 through Non‐Canonical Deubiquitination of OTUB1 Drives Facet Joint Osteoarthritis Pathogenesis

Advanced Science, EarlyView.
Facet joint osteoarthritis (FJOA), prevalent in the elderly, involves Talin2 upregulation promoting ECM degradation while suppressing synthesis. Mechanical load stabilizes Talin2 via OTUB1‐mediated non‐canonical deubiquitination, driving CCL2 expression that recruits immune cells, exacerbating inflammatory joint degeneration.
Yizhen Huang, Heng Sun, Haojie Chen, Xiangpeng Wang, Junduo Zhao, Yang Jiao, Hongyi Zhou, Haoyu Cai, Jiafeng Dai, Xuan Huang, Weiyun Chen, Jianxiong Shen   +11 more
wiley   +1 more source

AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders

Human Mutation, Volume 43, Issue 12, Page 1795-1807, December 2022., 2022
Abstract Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time‐consuming, subjective, and hard to compare between labs.
Johann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, Konrad Platzer, Bernt Popp, Rami Abou Jamra   +5 more
wiley   +1 more source

mendelFix: a Perl script for checking Mendelian errors in high density SNP data of trio designs [PDF]

arXiv, 2013
Here we present mendelFix, a Perl script for checking Mendelian errors in genome-wide SNP data of trio designs. The program takes 12-recoded PLINK PED and MAP files as input to calculate a series of summary statistics for Mendelian errors, sets missing offspring genotypes that present Mendelian inconsistencies, and implements a simplistic procedure to ...
arxiv  

IFITM2 Modulates Endocytosis Maintaining Neural Stem Cells in Developing Neocortex

Advanced Science, EarlyView.
This study reveals IFITM2 as a key regulator of endocytosis in radial glial cells (RGCs) during brain development. IFITM2's YXXø motif and phosphoinositide‐binding residues (K82/K87) are essential for endosome formation. IFITM2 deficiency disrupts the embryonic cortical neurogenesis, revealing a conserved mechanism linking endocytic dynamics to neural ...
Yuqing Lv, Wenzheng Zou, Lin Li, Shukui Zhang, Jiaqi Liang, Jiali Pu, Jianwei Jiao   +6 more
wiley   +1 more source

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022
Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand   +31 more
wiley   +1 more source