A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.

Autor: Robert B Weiss, Timothy B Baker, Dale S Cannon, Andrew von Niederhausern, Diane M Dunn, Nori Matsunami, Nanda A Singh, Lisa Baird, Hilary Coon, William M McMahon, Megan E Piper, Michael C Fiore, Mary Beth Scholand, John E Connett, Richard E Kanner, Lorise C Gahring, Scott W Rogers, John R Hoidal, Mark F Leppert

Publikováno v: PLoS Genetics, Vol 4, Iss 7, p e1000125 (2008)

People who begin daily smoking at an early age are at greater risk of long-term nicotine addiction. We tested the hypothesis that associations between nicotinic acetylcholine receptor (nAChR) genetic variants and nicotine dependence assessed in adult

Externí odkaz: https://doaj.org/article/967db3d79cd44178b104b1f07b91bd4b

Clinical and genetic characterization of manifesting carriers of DMD mutations

Autor: Carsten G. Bönnemann, Andrew von Niederhausern, Sidney M. Gospe, Michael T. Howard, Julaine Florence, Olga L. Gurvich, Diane M. Dunn, Jerry R. Mendell, Eduard Gappmaier, Michael J. Friez, Kathryn J. Swoboda, Richard S. Finkel, Jacinda B. Sampson, Laura E. Taylor, Brenda Wong, Anne M. Connolly, Karen Kovak, Michael D. Sussman, Livija Medne, Katherine D. Mathews, Robert B. Weiss, Jonathan Zonana, Alan Pestronk, Kevin M. Flanigan, Payam Soltanzadeh

Publikováno v: Neuromuscular Disorders. 20:499-504

Manifesting carriers of DMD gene mutations may present diagnostic challenges, particularly in the absence of a family history of dystrophinopathy. We review the clinical and genetic features in fifteen manifesting carriers identified among 860 subjec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e293eb21f476ef7b4bad2ae98fb26c8f
https://doi.org/10.1016/j.nmd.2010.05.010

Pattern of Sequence Variation Across 213 Environmental Response Genes

Autor: Robert J. Livingston, Christopher S. Carlson, Sivakumar Gowrisankar, Andrew von Niederhausern, Deborah A. Nickerson, Bruce J. Aronow, Robert B. Weiss, Dana C. Crawford, Mark J. Rieder, Anil G. Jegga

Publikováno v: Genome Research. 14:1821-1831

To promote the clinical and epidemiological studies that improve our understanding of human genetic susceptibility to environmental exposure, the Environmental Genome Project (EGP) has scanned 213 environmental response genes involved in DNA repair,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54f4aed93286f0e232af51e4769aa3bd
https://doi.org/10.1101/gr.2730004

Genome degeneration and adaptation in a nascent stage of symbiosis

Autor: D. Grant Jackson, Diane M. Dunn, Robert B. Weiss, Adam L. Clayton, Francisco J. Silva, Kelly F. Oakeson, Brett Duval, Amanda Baca, Andrew von Niederhausern, Abdelaziz Heddi, Andrés Moya, Cindy Hamil, Alex Aoyagi, Colin Dale, Rosario Gil, Amparo Latorre, Agnès Vallier

Publikováno v: Genome Biology and Evolution 1 (6), 76-93. (2014)
Genome Biology and Evolution
Genome Biology and Evolution, Society for Molecular Biology and Evolution, 2014, 6 (1), pp.76-93. ⟨10.1093/gbe/evt210⟩

Symbiotic associations between animals and microbes are ubiquitous in nature, with an estimated 15% of all insect species harboring intracellular bacterial symbionts. Most bacterial symbionts share many genomic features including small genomes, nucle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e07506ba8c7d412dead323e9645e4e5
http://prodinra.inra.fr/record/272853

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

Autor: Carol J Saunders, Roberto Del Bo, Robert B. Weiss, Michael T. Howard, Giacomo P. Comi, Anne M. Connolly, Ann C. Modrcin, Diane M. Dunn, Richard Jacobson, Angela Pickart, Kevin M. Flanigan, Majed Dasouki, Jerry R. Mendell, Andrew von Niederhausern, Livija Medne, Richard S. Finkel

Publikováno v: Neuromuscular disorders : NMD. 19(11)

A recurrent exon 1 nonsense mutation in the DMD gene, p.Trp3X (c.9G>A), was first ascertained in a proband with no symptoms until age 20 and who walked until the age of 62. Six other unrelated kindreds carrying a p.Trp3X mutation were subsequently as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e0020715fdd40a18eb76b51c8b33842
https://pubmed.ncbi.nlm.nih.gov/19793655