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Links from Nucleotide

Items: 9

1.
Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
Seth I. Berger, Carla Ciccone, Karen L. Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J. Introne, Andrea Gropman, Jan K. Blancato, James C. Mullikin, NISC Comparative Sequencing Program, William A. Gahl, Marjan Huizing, Ann C. M. Smith
Hum Genet. Author manuscript; available in PMC 2018 Mar 13.
Published in final edited form as: Hum Genet. 2017 Apr; 136(4): 409–420. Published online 2017 Feb 17. doi: 10.1007/s00439-017-1767-x
PMCID:
PMC5848494
AbstractArticlePDF–880K
2.
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype
Li Chen, Philip J. Jensik, Joseph T. Alaimo, Magdalena Walkiewicz, Seth Berger, Elizabeth Roeder, Eissa A. Faqeih, Jonathan A. Bernstein, Ann C. M. Smith, Sureni V. Mullegama, David W. Saffen, Sarah H. Elsea
Hum Mutat. Author manuscript; available in PMC 2018 Dec 1.
Published in final edited form as: Hum Mutat. 2017 Dec; 38(12): 1774–1785. Published online 2017 Sep 23. doi: 10.1002/humu.23339
PMCID:
PMC5679464
AbstractArticlePDF–732K
3.
Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes
Linda Yip, Leon Su, Deqiao Sheng, Pearl Chang, Mark Atkinson, Margaret Czesak, Paul R. Albert, Ai-Ris Collier, Shannon J. Turley, C. Garrison Fathman, Rémi J. Creusot
Nat Immunol. Author manuscript; available in PMC 2010 Mar 1.
Published in final edited form as: Nat Immunol. 2009 Sep; 10(9): 1026–1033. Published online 2009 Aug 9. doi: 10.1038/ni.1773
PMCID:
PMC2752139
AbstractArticlePDF–2.0M
4.
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes
Reuben J. Pengelly, Liliana Arias, Julio Martínez, Rosanna Upstill-Goddard, Eleanor G. Seaby, Jane Gibson, Sarah Ennis, Andrew Collins, Ignacio Briceño
Sci Rep. 2016; 6: 30457. Published online 2016 Jul 26. doi: 10.1038/srep30457
PMCID:
PMC4960602
AbstractArticlePDF–471K
5.
RNA Sequencing Reveals the Alteration of the Expression of Novel Genes in Ethanol-Treated Embryoid Bodies
Chanchal Mandal, Sun Hwa Kim, Jin Choul Chai, Seon Mi Oh, Young Seek Lee, Kyoung Hwa Jung, Young Gyu Chai
PLoS One. 2016; 11(3): e0149976. Published online 2016 Mar 1. doi: 10.1371/journal.pone.0149976
PMCID:
PMC4773011
AbstractArticlePDF–2.8M
6.
Transcriptional Expression of Serotonergic Regulators in Laser-Captured Microdissected Dorsal Raphe Neurons of Subjects with Major Depressive Disorder: Sex-Specific Differences
Dharmendra B. Goswami, Warren L. May, Craig A. Stockmeier, Mark C. Austin
J Neurochem. Author manuscript; available in PMC 2013 Aug 30.
Published in final edited form as: J Neurochem. 2010 Jan; 112(2): 397–409. Published online 2009 Oct 29. doi: 10.1111/j.1471-4159.2009.06462.x
PMCID:
PMC3757563
AbstractArticlePDF–1.3M
7.
CD38/CD31 interactions activate genetic pathways leading to proliferation and migration in chronic lymphocytic leukemia cells
Silvia Deaglio, Semra Aydin, Maurizia Mello Grand, Tiziana Vaisitti, Luciana Bergui, Giovanni D’Arena, Giovanna Chiorino, Fabio Malavasi
Mol Med. 2010 Mar-Apr; 16(3-4): 87–91. Published online 2009 Nov 28. doi: 10.2119/molmed.2009.00146
PMCID:
PMC2785473
AbstractArticlePDF–245K
8.
Identification of Genes, including the Gene Encoding p27Kip1, Regulated by Serine 276 Phosphorylation of the p65 Subunit of NF-κB
Ratna Chakraborty Prasad, Xiaohui L. Wang, Brian K. Law, Bradley Davis, Gail Green, Braden Boone, Lauren Sims, Mary Law
Cancer Lett. Author manuscript; available in PMC 2010 Mar 8.
Published in final edited form as: Cancer Lett. 2009 Mar 8; 275(1): 139–149. Published online 2008 Nov 26. doi: 10.1016/j.canlet.2008.10.007
PMCID:
PMC2688403
AbstractArticlePDF–1.3M
9.
Identification of transcriptional regulatory cascades in retinoic acid-induced growth arrest of HepG2 cells
Misato Nakanishi, Yasuhiro Tomaru, Hisashi Miura, Yoshihide Hayashizaki, Masanori Suzuki
Nucleic Acids Res. 2008 Jun; 36(10): 3443–3454. Published online 2008 Apr 29. doi: 10.1093/nar/gkn066
PMCID:
PMC2425469
AbstractArticlePDF–355K

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