Results 61 to 70 of about 10,987,462 (390)

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

Genome sequences of 11 human vaginal Actinobacteria strains [PDF]

, 2016
The composition of the vaginal microbiota is an important health determinant. Several members of the phylum Actinobacteria have been implicated in bacterial vaginosis, a condition associated with many negative health outcomes. Here, we present 11 strains
Deitzler, Grace E, Hallsworth-Pepin, Kymberlie, Lewis, Amanda L, Lewis, Warren G, Mitreva, Makedonka, Park, SoEun, Robinson, Lloyd S, Ruiz, Maria J, Weimer, Cory, Wollam, Aye   +9 more
core   +2 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

Nanopore sequencing and assembly of a human genome with ultra-long reads

Nature Biotechnology, 2017
We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer.
Miten Jain, S. Koren, K. Miga, J. Quick, Arthur C. Rand, T. Sasani, J. R. Tyson, A. Beggs, A. Dilthey, Ian T. Fiddes, S. Malla, Hannah Marriott, T. Nieto, J. O’Grady, Hugh E. Olsen, Brent S. Pedersen, A. Rhie, H. Richardson, A. Quinlan, T. Snutch, Louise Tee, B. Paten, A. Phillippy, J. Simpson, N. Loman, M. Loose   +25 more
semanticscholar   +1 more source

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Molecular Genetics & Genomic Medicine, 2021
Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion.
Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy   +20 more
doaj   +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   +5 more sources

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Nature Biotechnology, 2019
The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing (CCS) to improve the accuracy of single-molecule real-time (SMRT) sequencing (
A. Wenger, P. Peluso, W. Rowell, Pi-Chuan Chang, R. Hall, G. Concepcion, Jana Ebler, Arkarachai Fungtammasan, Alexey Kolesnikov, Nathan D. Olson, A. Töpfer, Michael Alonge, M. Mahmoud, Yufeng Qian, C. Chin, A. Phillippy, M. Schatz, G. Myers, M. DePristo, Jue Ruan, T. Marschall, F. Sedlazeck, J. Zook, Heng Li, S. Koren, Andrew Carroll, D. Rank, M. Hunkapiller   +27 more
semanticscholar   +1 more source

Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry

Nature, 2008
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 base pair) reads, but the existence of reference sequences for the human and ...
D. Bentley, S. Balasubramanian, H. Swerdlow, G. P. Smith, J. Milton, Clive Brown, K. Hall, D. Evers, Colin L. Barnes, Helen Bignell, J. M. Boutell, J. Bryant, Richard J. Carter, R. K. Cheetham, A. Cox, D. Ellis, Michael R. Flatbush, N. Gormley, S. Humphray, Leslie J. Irving, Mirian Karbelashvili, Scott M. Kirk, Heng Li, Xiaohai Liu, K. Maisinger, L. Murray, B. Obradovic, T. Ost, Michael L. Parkinson, Mark Pratt, I. Rasolonjatovo, M. Reed, R. Rigatti, C. Rodighiero, M. Ross, A. Sabot, S. Sankar, A. Scally, G. Schroth, Mark E. B. Smith, Vincent P. Smith, Anastassia Spiridou, Peta E. Torrance, Svilen Tzonev, Eric H. Vermaas, Klaudia Walter, Xiaolin Wu, Lu Zhang, Mohammed D. Alam, C. Anastasi, Ify C. Aniebo, D. M. Bailey, Iain Bancarz, Saibal Banerjee, Selena Barbour, P. Baybayan, Vincent Benoit, Kevin Benson, Claire Bevis, Phillip J. Black, Asha Boodhun, J. S. Brennan, J. Bridgham, Rob C. Brown, A. Brown, Dale H. Buermann, Abass A. Bundu, James C. Burrows, N. Carter, Nestor Castillo, M. C. E. Catenazzi, Simon Chang, R. Cooley, Natasha R. Crake, Olubunmi O. Dada, Konstantinos D. Diakoumakos, Belen Dominguez-Fernandez, D. Earnshaw, Ugonna C. Egbujor, Dave Elmore, S. Etchin, Mark Ewan, M. Fedurco, Louise J. Fraser, K. F. Fajardo, W. S. Furey, Dave George, Kimberley J. Gietzen, Colin P. Goddard, G. Golda, Philip A. Granieri, David E. Green, D. Gustafson, Nancy F. Hansen, K. Harnish, C. Haudenschild, Narinder I. Heyer, Matthew M. Hims, Johnny T. Ho, Adrian Horgan, Katya Hoschler, Steve Hurwitz, D. V. Ivanov, Maria Q. Johnson, Terena James, T. A. Jones, Gyoung-Dong Kang, Tzvetana H. Kerelska, A. Kersey, I. Khrebtukova, A. Kindwall, Z. Kingsbury, P. Kokko-Gonzales, Anil Kumar, M. Laurent, C. Lawley, Sarah E. Lee, X. Lee, A. Liao, Jennifer A. Loch, Mitch Lok, Shujun J Luo, Radhika M. Mammen, J. W. Martin, P. McCauley, P. McNitt, Parul Mehta, Keith Moon, Joe W. Mullens, T. Newington, Z. Ning, B. Ng, Sonia M. Novo, Michael J. O'neill, M. Osborne, A. Osnowski, Omead Ostadan, L. Paraschos, L. Pickering, Andrew C. Pike, A. Pike, D. Chris Pinkard, Daniel P. Pliskin, Joe Podhasky, Victor J. Quijano, C. Raczy, Vicki H. Rae, S. Rawlings, Ana Chiva Rodriguez, Phyllida Roe, J. Rogers, M. C. Rogert Bacigalupo, Nikolai Romanov, A. Romieu, Rithy K. Roth, Natalie J. Rourke, Silke T. Ruediger, E. Rusman, Raquel M. Sanches-Kuiper, M. Schenker, J. Seoane, Richard Shaw, Mitch Shiver, S. Short, N. Sizto, Johannes P. Sluis, M. A. Smith, J. S. Sohna, Eric Spence, K. Stevens, Neil W. Sutton, L. Szajkowski, C. Tregidgo, G. Turcatti, S. Vandevondele, Yuli Verhovsky, Selene M. Virk, S. Wakelin, Gregory Walcott, Jingwen Wang, G. Worsley, Juying Yan, L. Yau, Mike Zuerlein, J. Rogers, J. Mullikin, M. Hurles, N. J. McCooke, John S. West, F. Oaks, Peter L. Lundberg, D. Klenerman, R. Durbin, Anthony J. Smith   +193 more
semanticscholar   +1 more source

Evolutionary interplay between viruses and R‐loops

FEBS Letters, EarlyView.
Viruses interact with specialized nucleic acid structures called R‐loops to influence host transcription, epigenetic states, latency, and immune evasion. This Perspective examines the roles of R‐loops in viral replication, integration, and silencing, and how viruses co‐opt or avoid these structures.
Zsolt Karányi, Zita Képes, Zoltán Szabó, Eszter Csoma, Lóránt Székvölgyi   +4 more
wiley   +1 more source

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome

Respiratory Research, 2022
Background HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF).
Shachar Abudi-Sinreich, Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlik, Lauren C. Testa, Chen G. Han, Heidi M. Dorward, Stephen M. Wincovitch, Yair Anikster, William A. Gahl, Resat Cinar, Bernadette R. Gochuico, May Christine V. Malicdan   +13 more
doaj   +1 more source