Results 31 to 40 of about 1,962,192 (329)

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

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

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Molecular Genetics & Genomic Medicine, 2020
Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...
Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu, Donna Muzny, Richard Gibbs   +7 more
doaj   +1 more source

Changes in Human Genomics [PDF]

Human Genomics, 2011
I would like to welcome you to the second issue of Volume 5 and also to announce several changes to the Journal including new members of our Editorial Board, the introduction of a new section 'Research Highlights' and, crucially, the introduction of open-access papers.
openaire   +3 more sources

Comparative genomic analyses reveal a lack of a substantial signature of host adaptation in Rhodococcus equi (‘Prescottella equi’) [PDF]

, 2013
Rhodococcus equi (‘Prescottella equi’) is a pathogenic actinomycete primarily infecting horses but has emerged as an opportunistic human pathogen. We have sequenced the genome of the type strain of this species, R.
Arruda, Aziz, Aziz, Clark, Darling, Giguere, Goodfellow, Grant, Jones, Jones, Jones, Kedlaya, Kämpfer, Lai, Law, Letek, Letek, Lowder, McLeod, Mohn, Pena-Moctezuma, Prescott, Prescott, Resch, Reumerman, Sangal, Sangal, Segata, Sekine, Takai, Takai, Teufel, Vazquez-Boland, Vera-Cabrera, Vernikos, Yamshchikov   +35 more
core   +1 more source

miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients

The Egyptian Heart Journal, 2022
Background Childhood dilated cardiomyopathy (CDCM) is the most common cardiomyopathy in children and it is risk factor to heart failure and sudden death.
Alaaeldin G. Fayez, Nora N. Esmaiel, Sohair M. Salem, Engy A. Ashaat, Sonia A. El-Saiedi, Mona O. El Ruby   +5 more
doaj   +1 more source

Nucleotide Frequencies in Human Genome and Fibonacci Numbers [PDF]

, 2006
This work presents a mathematical model that establishes an interesting connection between nucleotide frequencies in human single-stranded DNA and the famous Fibonacci's numbers. The model relies on two assumptions.
A. Dress, Alex Itiro Shimabukuro, D. Mitchell, D.R. Forsdyke, E. Chargaff, I.K. Jordan, J. Nocedal, J.D. Watson, J.H. Do, L. Fibonacci, Michel E. Beleza Yamagishi, N. Bannert, S. Schwartz, S.L. Salzberg, T.R. Gregory   +14 more
core   +2 more sources

Plasmodium malariae and P. ovale genomes provide insights into malaria parasite evolution [PDF]

, 2017
Elucidation of the evolutionary history and interrelatedness of Plasmodium species that infect humans has been hampered by a lack of genetic information for three human-infective species: P. malariae and two P. ovale species (P. o. curtisi and P.
Amenga-Etego, Lucas, Anstey, Nicholas M, Apinjoh, Tobias O, Auburn, Sarah, Barnwell, John W, Berriman, Matthew, Böhme, Ulrike, Cotton, James A, Djimdé, Abdoulaye A, Kwiatkowski, Dominic P, Maiga-Ascofare, Oumou, Manske, Magnus, McCarthy, James S, Newbold, Chris I, Ollomo, Benjamin, Otto, Thomas D, Price, Ric N, Prugnolle, Franck, Reid, Adam J, Renaud, François, Rutledge, Gavin G, Sanders, Mandy   +21 more
core   +2 more sources

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   +5 more sources

The Human Genome Project [PDF]

Journal of the Royal Society of Medicine, 2005
On 14 April 2003 the US Human Genome Research Institute announced that scientists had just clipped into place the very last piece in the colossal jigsaw of human DNA. The next day's newspapers reminded us that, whilst it was early days yet, a host of diseases from eczema to dementia could one day be history.
openaire   +3 more sources