Results 41 to 50 of about 11,509,666 (312)

The Protein Kinase Complement of the Human Genome

Science, 2002
We have catalogued the protein kinase complement of the human genome (the “kinome”) using public and proprietary genomic, complementary DNA, and expressed sequence tag (EST) sequences.
G. Manning, D. Whyte, R. Martinez, T. Hunter, S. Sudarsanam   +4 more
semanticscholar   +1 more source

GENCODE: The reference human genome annotation for The ENCODE Project

Genome Research, 2012
The GENCODE Consortium aims to identify all gene features in the human genome using a combination of computational analysis, manual annotation, and experimental validation.
J. Harrow, A. Frankish, J. Gonzalez, Electra Tapanari, M. Diekhans, F. Kokocinski, Bronwen L. Aken, D. Barrell, A. Zadissa, S. Searle, If H. A. Barnes, A. Bignell, V. Boychenko, T. Hunt, M. Kay, Gaurab Mukherjee, J. Rajan, Gloria Despacio-Reyes, Gary I. Saunders, C. Steward, R. Harte, Michael F. Lin, C. Howald, Andrea Tanzer, T. Derrien, Jacqueline Chrast, Nathalie Walters, S. Balasubramanian, Baikang Pei, M. Tress, J. Rodríguez, Iakes Ezkurdia, Jeltje van Baren, M. Brent, D. Haussler, Manolis Kellis, A. Valencia, A. Reymond, M. Gerstein, R. Guigó, T. Hubbard   +40 more
semanticscholar   +1 more source

Pan-cancer analysis of mRNA stability for decoding tumour post-transcriptional programs

Communications Biology, 2022
The role of mRNA stability in shaping the cancer transcriptome is revealed using a statistical analysis of transcriptomic data.
Gabrielle Perron, Pouria Jandaghi, Elham Moslemi, Tamiko Nishimura, Maryam Rajaee, Rached Alkallas, Tianyuan Lu, Yasser Riazalhosseini, Hamed S. Najafabadi   +8 more
doaj   +1 more source

Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells

Science, 2013
Improving Whole-Genome Screens Improved methods are needed for the knockout of individual genes in genome-scale functional screens. Wang et al. (p. 80, published online 12 December) and Shalem et al. (p.
Ophir Shalem, Neville E. Sanjana, E. Hartenian, Xi Shi, David A. Scott, T. Mikkelsen, D. Heckl, B. Ebert, D. Root, John G Doench, Feng Zhang   +10 more
semanticscholar   +1 more source

High-resolution profiling of histone methylations in the human genome.

Cell, 2007
Histone modifications are implicated in influencing gene expression. We have generated high-resolution maps for the genome-wide distribution of 20 histone lysine and arginine methylations as well as histone variant H2A.Z, RNA polymerase II, and the ...
A. Barski, Suresh Cuddapah, Kairong Cui, Tae-Young Roh, Dustin E. Schones, Zhibin Wang, Gang Wei, I. Chepelev, K. Zhao   +8 more
semanticscholar   +1 more source

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

Molecular Cytogenetics, 2018
Background Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features.
A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid, M. S. Zaki   +9 more
doaj   +1 more source

Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects

Signal Transduction and Targeted Therapy, 2020
Based on engineered or bacterial nucleases, the development of genome editing technologies has opened up the possibility of directly targeting and modifying genomic sequences in almost all eukaryotic cells.
Hongyi Li, Yang Yang, Weiqi Hong, Mengyuan Huang, Min Wu, Xia Zhao   +5 more
semanticscholar   +1 more source

SEGMENTAL DUPLICATIONS AND THEIR VARIATION IN A COMPLETE HUMAN GENOME

bioRxiv, 2021
Despite their importance in disease and evolution, highly identical segmental duplications (SDs) have been among the last regions of the human reference genome (GRCh38) to be finished. Based on a complete telomere-to-telomere human genome (T2T-CHM13), we
Mitchell R. Vollger, Xavier Guitart, Philip C. Dishuck, L. Mercuri, William T. Harvey, Ariel Gershman, M. Diekhans, Arvis Sulovari, Katherine M. Munson, Alexandra M. Lewis, Kendra Hoekzema, David Porubsky, Ruiyang Li, S. Nurk, S. Koren, K. Miga, A. Phillippy, W. Timp, M. Ventura, E. Eichler   +19 more
semanticscholar   +1 more source

Gender And The Human Genome

Mens Sana Monographs, 2009
GENDER ISSUES ARISE IN RELATION TO THE HUMAN GENOME ACROSS A NUMBER OF DIMENSIONS: the level of attention given to the nuclear genome as opposed to the mitochondrial; the level of basic scientific research; decision-making in the clinic related to both reproductive decision-making on the one hand, and diagnostic and predictive testing on the other; and
openaire   +4 more sources

The genomics of the human endometrium

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2012
The endometrium is a complex tissue that lines the inside of the endometrial cavity. The gene expression of the different endometrial cell types is regulated by ovarian steroids and paracrine-secreted molecules from neighbouring cells. Due to this regulation, the endometrium goes through cyclic modifications which can be divided simply into the ...
Ruiz-Alonso, Maria, Blesa, David, Simón, Carlos   +2 more
openaire   +2 more sources