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Items: 1 to 20 of 275

1.
Three Rare Diseases in One Sib Pair: RAI1, PCK1, GRIN2B Mutations Associated with Smith-Magenis Syndrome, Cytosolic PEPCK Deficiency and NMDA Receptor Glutamate Insensitivity
David R Adams, Hongjie Yuan, Todd Holyoak, Katrina H. Arajs, Parvin Hakimi, Thomas C Markello, Lynne A Wolfe, Thierry Vilboux, Barbara K Burton, Karin Fuentes Fajardo, George Grahame, Conisha Holloman, Murat Sincan, Ann C M Smith, Gordon A Wells, Yan Huang, Hugo Vega, James P Snyder, Gretchen A Golas, Cynthia J Tifft, Cornelius F Boerkoel, Richard W Hanson, Stephen F Traynelis, Douglas S Kerr, William A Gahl
Mol Genet Metab. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Mol Genet Metab. 2014 Nov; 113(3): 161–170. Published online 2014 Apr 13. doi: 10.1016/j.ymgme.2014.04.001
PMCID:
PMC4219933
AbstractArticlePDF–1.0M
2.
Nutrigenetics and Nutrimiromics of the Circadian System: The Time for Human Health
Víctor Micó, Laura Díez-Ricote, Lidia Daimiel
Int J Mol Sci. 2016 Mar; 17(3): 299. Published online 2016 Feb 26. doi: 10.3390/ijms17030299
PMCID:
PMC4813163
AbstractArticlePDF–708K
3.
A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait
Luoying Zhang, Arisa Hirano, Pei-Ken Hsu, Christopher R. Jones, Noriaki Sakai, Masashi Okuro, Thomas McMahon, Maya Yamazaki, Ying Xu, Noriko Saigoh, Kazumasa Saigoh, Shu-Ting Lin, Krista Kaasik, Seiji Nishino, Louis J. Ptáček, Ying-Hui Fu
Proc Natl Acad Sci U S A. 2016 Mar 15; 113(11): E1536–E1544. Published online 2016 Feb 22. doi: 10.1073/pnas.1600039113
PMCID:
PMC4801303
AbstractArticlePDF–1.3M
4.
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes
Sureni V Mullegama, Loren Pugliesi, Brooke Burns, Zalak Shah, Raiha Tahir, Yanghong Gu, David L Nelson, Sarah H Elsea
Eur J Hum Genet. 2015 Jun; 23(6): 781–789. Published online 2014 Oct 1. doi: 10.1038/ejhg.2014.200
PMCID:
PMC4795052
AbstractArticlePDF–1.4M
5.
Circadian dysregulation of clock genes: clues to rapid treatments in major depressive disorder
BG Bunney, JZ Li, DM Walsh, R Stein, MP Vawter, P Cartagena, JD Barchas, AF Schatzberg, RM Myers, SJ Watson, H Akil, WE Bunney
Mol Psychiatry. Author manuscript; available in PMC 2016 Feb 24.
Published in final edited form as: Mol Psychiatry. 2015 Feb; 20(1): 48–55. Published online 2014 Nov 4. doi: 10.1038/mp.2014.138
PMCID:
PMC4765913
AbstractArticlePDF–482K
6.
Molecular prediction of durable remission after first-line fludarabine-cyclophosphamide-rituximab in chronic lymphocytic leukemia
Davide Rossi, Lodovico Terzi-di-Bergamo, Lorenzo De Paoli, Michaela Cerri, Guido Ghilardi, Annalisa Chiarenza, Pietro Bulian, Carlo Visco, Francesca R. Mauro, Fortunato Morabito, Agostino Cortelezzi, Francesco Zaja, Francesco Forconi, Luca Laurenti, Ilaria Del Giudice, Massimo Gentile, Iolanda Vincelli, Marina Motta, Marta Coscia, Gian Matteo Rigolin, Alessandra Tedeschi, Antonino Neri, Roberto Marasca, Omar Perbellini, Carol Moreno, Giovanni Del Poeta, Massimo Massaia, Pier Luigi Zinzani, Marco Montillo, Antonio Cuneo, Valter Gattei, Robin Foà, Gianluca Gaidano
Blood. 2015 Oct 15; 126(16): 1921–1924. Prepublished online 2015 Aug 14. doi: 10.1182/blood-2015-05-647925
PMCID:
PMC4743433
AbstractArticle
7.
Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain
Li Chen, Yu Tao, Fan Song, Xi Yuan, Jian Wang, David Saffen
Sci Rep. 2016; 6: 19010. Published online 2016 Jan 8. doi: 10.1038/srep19010
PMCID:
PMC4705554
AbstractArticlePDF–1.9M
8.
TNFRSF13B hemizygosity reveals TACI haploinsufficiency at later stages of B-cell development
Neil Romberg, Manmeet Virdee, Nicolas Chamberlain, Tyler Oe, Jean-Nicolas Schickel, Tiffany Perkins, Tineke Cantaert, Rima Rachid, Sally Rosengren, Regina Palazzo, Raif Geha, Charlotte Cunningham-Rundles, Eric Meffre
J Allergy Clin Immunol. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: J Allergy Clin Immunol. 2015 Nov; 136(5): 1315–1325. Published online 2015 Jun 19. doi: 10.1016/j.jaci.2015.05.012
PMCID:
PMC4641026
AbstractArticlePDF–4.0M
9.
Sleep interruption associated with house staff work schedules alters circadian gene expression
Ming Zhu Fang, Pamela Ohman-Strickland, Kathie Kelly-McNeil, Howard Kipen, Benjamin Crabtree, Jenny Pan Lew, Helmut Zarbl
Sleep Med. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: Sleep Med. 2015 Nov; 16(11): 1388–1394. Published online 2015 Jul 23. doi: 10.1016/j.sleep.2015.06.011
PMCID:
PMC4621493
AbstractArticlePDF–639K
10.
Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion
Nivedita U. Jerath, John Kamholz, Tiffany Grider, Amy Harper, Andrea Swenson, Michael E. Shy
Muscle Nerve. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: Muscle Nerve. 2015 Nov; 52(5): 905–908. Published online 2015 Jun 19. doi: 10.1002/mus.24713
PMCID:
PMC4596757
AbstractArticlePDF–315K
11.
Biomarkers for Circadian Rhythm Disruption Independent of Time of Day
Kirsten C. G. Van Dycke, Jeroen L. A. Pennings, Conny T. M. van Oostrom, Linda W. M. van Kerkhof, Harry van Steeg, Gijsbertus T. J. van der Horst, Wendy Rodenburg
PLoS One. 2015; 10(5): e0127075. Published online 2015 May 18. doi: 10.1371/journal.pone.0127075
PMCID:
PMC4436131
AbstractArticlePDF–1.3M
12.
Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder
Sureni V. Mullegama, Joseph T. Alaimo, Li Chen, Sarah H. Elsea
Int J Mol Sci. 2015 Apr; 16(4): 7627–7643. Published online 2015 Apr 7. doi: 10.3390/ijms16047627
PMCID:
PMC4425039
AbstractArticlePDF–1.4M
13.
Melatonin Inhibits Embryonic Salivary Gland Branching Morphogenesis by Regulating Both Epithelial Cell Adhesion and Morphology
Aya Obana-Koshino, Hitomi Ono, Jiro Miura, Manabu Sakai, Hitoshi Uchida, Wataru Nakamura, Kanji Nohara, Yusuke Maruyama, Atsuhiko Hattori, Takayoshi Sakai
PLoS One. 2015; 10(4): e0119960. Published online 2015 Apr 15. doi: 10.1371/journal.pone.0119960
PMCID:
PMC4398443
AbstractArticlePDF–818K
14.
Case-control study of the PERIOD3 clock gene length polymorphism and colorectal adenoma formation
MELANNIE ALEXANDER, JAMES B. BURCH, SUSAN E. STECK, CHIN-FU CHEN, THOMAS G. HURLEY, PHILIP CAVICCHIA, MEREDITH RAY, NITIN SHIVAPPA, JACLYN GUESS, HONGMEI ZHANG, SHAWN D. YOUNGSTEDT, KIM E. CREEK, STEPHEN LLOYD, XIAOMING YANG, JAMES R. HÉBERT
Oncol Rep. 2015 Feb; 33(2): 935–941. Published online 2014 Dec 11. doi: 10.3892/or.2014.3667
PMCID:
PMC4306271
AbstractArticlePDF–372K
15.
Differential Sleep, Sleepiness, and Neurophysiology in the Insomnia Phenotypes of Shift Work Disorder
Valentina Gumenyuk, Ren Belcher, Christopher L. Drake, Thomas Roth
Sleep. 2015 Jan 1; 38(1): 119–126. Published online 2015 Jan 1. doi: 10.5665/sleep.4336
PMCID:
PMC4262944
AbstractArticlePDF–546K
16.
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Claudia M.B. Carvalho, Shivakumar Vasanth, Marwan Shinawi, Chad Russell, Melissa B. Ramocki, Chester W. Brown, Jesper Graakjaer, Anne-Bine Skytte, Angela M. Vianna-Morgante, Ana C.V. Krepischi, Gayle S. Patel, LaDonna Immken, Kyrieckos Aleck, Cynthia Lim, Sau Wai Cheung, Carla Rosenberg, Nicholas Katsanis, James R. Lupski
Am J Hum Genet. 2014 Nov 6; 95(5): 565–578. doi: 10.1016/j.ajhg.2014.10.006
PMCID:
PMC4225592
AbstractArticlePDF–1.5M
17.
Genetics and epigenetics of circadian rhythms and their potential roles in neuropsychiatric disorders
Chunyu Liu, Michael Chung
Neurosci Bull. 2015 Feb; 31(1): 141–159. Published online 2015 Feb 6. doi: 10.1007/s12264-014-1495-3
PMCID:
PMC4821655
AbstractArticlePDF–289K
18.
Screening of Clock Gene Polymorphisms Demonstrates Association of a PER3 Polymorphism with Morningness–Eveningness Preference and Circadian Rhythm Sleep Disorder
Akiko Hida, Shingo Kitamura, Yasuko Katayose, Mie Kato, Hiroko Ono, Hiroshi Kadotani, Makoto Uchiyama, Takashi Ebisawa, Yuichi Inoue, Yuichi Kamei, Masako Okawa, Kiyohisa Takahashi, Kazuo Mishima
Sci Rep. 2014; 4: 6309. Published online 2014 Sep 9. doi: 10.1038/srep06309
PMCID:
PMC4158573
AbstractArticlePDF–249K
19.
The making of the master clock
Ethan Buhr, Russell N Van Gelder
eLife. 2014; 3: e04014. Published online 2014 Aug 20. doi: 10.7554/eLife.04014
PMCID:
PMC4137447
AbstractArticlePDF–400K
20.
Lhx1 maintains synchrony among circadian oscillator neurons of the SCN
Megumi Hatori, Shubhroz Gill, Ludovic S Mure, Martyn Goulding, Dennis D M O'Leary, Satchidananda Panda
eLife. 2014; 3: e03357. Published online 2014 Jul 17. doi: 10.7554/eLife.03357
PMCID:
PMC4137275
AbstractArticlePDF–3.4M

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