Results 331 to 340 of about 10,781,581 (397)

Ancient viral DNA in the human genome linked to neurodegenerative diseases.

Brain Behav Immun
Duarte RRR, Nixon DF, Powell TR.
europepmc   +1 more source

Nucleotide excision repair of aflatoxin-induced DNA damage within the 3D human genome organization. [PDF]

Nucleic Acids Res
Wu Y, Adeel MM, Xia D, Sancar A, Li W.
europepmc   +1 more source

The Genome of Human Herpesvirus 6: Maps of Unit-length and Concatemeric Genomes for Nine Restriction Endonucleases

, 1991
M. Martin, Brian J. Thomson, R. W. Honess, Molly Craxton, Ursula A. Gompels, M Y Liu, E. Littler, J. R. Arrand, Ian Teo, Michael D. Jones   +9 more
openalex   +1 more source

Human genome dispute [PDF]

Nature, 1991
openaire   +3 more sources

A copy number variation map of the human genome

Nature reviews genetics, 2015
M. Zarrei, J. MacDonald, D. Merico, S. Scherer   +3 more
semanticscholar   +1 more source

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Michael Hayes, Andrew Hannaford, Samuel Kim, Victor S. C. Fung, Gabor M. Halmagyi, Andrew Martin, David Manser, Michel Tchan, Karl Ng, Marina L. Kennerson, Ira W. Deveson, Kishore Raj Kumar   +20 more
wiley   +1 more source

Heritable human genome editing: correction, selection and treatment. [PDF]

Med Law Rev
Scott R.
europepmc   +1 more source

High‐Throughput Immunoassays for Cavin‐4 IgG: A Diagnostic Tool for Immune‐Mediated Rippling Muscle Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACTCavin‐4 was identified as a potential autoantigen for immune‐mediated rippling muscle disease (iRMD). To validate this, we developed and tested various immunoassays, including a cell‐based assay (CBA), cavin‐4 recombinant protein ELISA, and multi‐peptide ELISA. Among 19 iRMD patients, all exhibited muscle rippling, and 13 had percussion‐induced
Reghann G. LaFrance‐Corey, Haidara Kherbek, Nimalan Harinesan, Margherita Milone, Naveen K. Paramasivan, Pallab Sarker, Andrew M. Knight, Carley Karsten, Surendra Dasari, Teerin Liewluck, William J. Litchy, Sean J. Pittock, John R. Mills, Divyanshu Dubey   +13 more
wiley   +1 more source

The Structure of Simple Satellite Variation in the Human Genome and Its Correlation With Centromere Ancestry. [PDF]

Genome Biol Evol
Said I, Barbash DA, Clark AG.
europepmc   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source