Results 211 to 220 of about 8,121,841 (424)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

BORIS/CTCFL epigenetically reprograms clustered CTCF binding sites into alternative transcriptional start sites

Genome Biology
Background Pervasive usage of alternative promoters leads to the deregulation of gene expression in carcinogenesis and may drive the emergence of new genes in spermatogenesis.
Elena M. Pugacheva, Dharmendra Nath Bhatt, Samuel Rivero-Hinojosa, Md Tajmul, Liron Fedida, Emma Price, Yon Ji, Dmitri Loukinov, Alexander V. Strunnikov, Bing Ren, Victor V. Lobanenkov   +10 more
doaj   +1 more source

Mapping genome-wide transcription-factor binding sites using DAP-seq

Nature Protocols, 2017
Anna Bartlett, Ronan C. O’Malley, S. Huang, M. Galli, Joseph R. Nery, A. Gallavotti, J. Ecker   +6 more
semanticscholar   +1 more source

Classification of acute myeloid leukemia based on multi‐omics and prognosis prediction value

Molecular Oncology, EarlyView.
The Unsupervised AML Multi‐Omics Classification System (UAMOCS) integrates genomic, methylation, and transcriptomic data to categorize AML patients into three subtypes (UAMOCS1‐3). This classification reveals clinical relevance, highlighting immune and chromosomal characteristics, prognosis, and therapeutic vulnerabilities.
Yang Song, Zhe Wang, Guangji Zhang, Jiangxue Hou, Kaiqi Liu, Shuning Wei, Yan Li, Chunlin Zhou, Dong Lin, Min Wang, Hui Wei, Jianxiang Wang, Tao Cheng, Yingchang Mi   +13 more
wiley   +1 more source

Clinical utility of cerebrospinal fluid biomarkers measured by LUMIPULSE® system

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1898-1909, December 2022., 2022
Abstract Objectives Cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are well‐established in research settings, but their use in routine clinical practice remains a largely unexploited potential. Here, we examined the relationship between CSF biomarkers, measured by a fully automated immunoassay platform, and brain β‐amyloid (Aβ ...
Hisashi Nojima, Satoshi Ito, Akira Kushida, Aki Abe, Wataru Motsuchi, David Verbel, Manu Vandijck, Geert Jannes, Ina Vandenbroucke, Katsumi Aoyagi   +9 more
wiley   +1 more source

Studies on the binding of tritiated p-dimethylaminoazobenzene in rat liver and the role of intranuclear binding sites in the early stages of carcinogenesis

, 1965
K. R. Rees, G. F. Rowland, J S Varcoe
openalex   +1 more source

A Pattern-Based Method for the Identification of MicroRNA Binding Sites and Their Corresponding Heteroduplexes

Cell, 2006
K. Miranda, T. Huynh, Yvonne Tay, Yen-Sin Ang, W. Tam, A. Thomson, B. Lim, I. Rigoutsos   +7 more
semanticscholar   +1 more source

Plasma lipidomic and metabolomic profiles in high‐grade glioma patients before and after 72‐h presurgery water‐only fasting

Molecular Oncology, EarlyView.
Presurgery 72‐h fasting in GB patients leads to adaptations of plasma lipids and polar metabolites. Fasting reduces lysophosphatidylcholines and increases free fatty acids, shifts triglycerides toward long‐chain TGs and increases branched‐chain amino acids, alpha aminobutyric acid, and uric acid.
Iris Divé, Lisa Hahnefeld, Katharina J. Wenger, Donat Kögel, Joachim Steinbach, Gerd Geisslinger, Michael W. Ronellenfitsch, Irmgard Tegeder   +7 more
wiley   +1 more source

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han, Feixia Zhan, Yuxin Yao, Li Cao, Jianguo Liu, Sheng Yao   +5 more
wiley   +1 more source

Ultrastructural localization of lectin-binding sites on the zonae pellucidae and plasma membranes of mammalian eggs. [PDF]

, 1975
Garth L. Nicolson, Ryuzo Yanagimachi, Hiroko Yanagimachi   +2 more
openalex   +1 more source