PMC Links for Nucleotide (Select 1779859728) - PMC

Select item 66963861.

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

Francesca Cogliati, Valentina Giorgini, Maura Masciadri, Maria Teresa Bonati, Margherita Marchi, Irene Cracco, Davide Gentilini, Angela Peron, Miriam Nella Savini, Luigina Spaccini, Barbara Scelsa, Silvia Maitz, Edvige Veneselli, Giulia Prato, Maria Pintaudi, Isabella Moroni, Aglaia Vignoli, Lidia Larizza, Silvia Russo

Int J Mol Sci. 2019 Aug; 20(15): 3621. Published online 2019 Jul 24. doi: 10.3390/ijms20153621

PMCID:: PMC6696386

Article PDF–1.2M

Select item 65792712.

A Murine Neural-Specific Homolog Corrects Cholinergic Defects inCaenorhabditis elegans unc-18 Mutants

Keiko Gengyo-Ando, Hitoshi Kitayama, Masahiro Mukaida, Yoji Ikawa

J Neurosci. 1996 Nov 1; 16(21): 6695–6702. doi: 10.1523/JNEUROSCI.16-21-06695.1996

PMCID:: PMC6579271

Article PDF–697K

Select item 63200713.

Munc18-1 catalyzes neuronal SNARE assembly by templating SNARE association

Junyi Jiao, Mengze He, Sarah A Port, Richard W Baker, Yonggang Xu, Hong Qu, Yujian Xiong, Yukun Wang, Huaizhou Jin, Travis J Eisemann, Frederick M Hughson, Yongli Zhang

eLife. 2018; 7: e41771. Published online 2018 Dec 12. doi: 10.7554/eLife.41771

PMCID:: PMC6320071

Article PDF–5.3M

Select item 62543544.

The N-peptide–binding mode is critical to Munc18-1 function in synaptic exocytosis

Chong Shen, Yinghui Liu, Haijia Yu, Daniel R. Gulbranson, Igor Kogut, Ganna Bilousova, Chen Zhang, Michael H. B. Stowell, Jingshi Shen

J Biol Chem. 2018 Nov 23; 293(47): 18309–18317. Published online 2018 Oct 1. doi: 10.1074/jbc.RA118.005254

PMCID:: PMC6254354

Article PDF–1.6M

Select item 21203715.

rbSec1A and B colocalize with syntaxin 1 and SNAP-25 throughout the axon, but are not in a stable complex with syntaxin

J Cell Biol. 1995 Apr 1; 129(1): 105–120. doi: 10.1083/jcb.129.1.105

PMCID:: PMC2120371

Summary PDF–4.6M

Select item 431766.

n-Sec1: a neural-specific syntaxin-binding protein.

J Pevsner, S C Hsu, R H Scheller

Proc Natl Acad Sci U S A. 1994 Feb 15; 91(4): 1445–1449. doi: 10.1073/pnas.91.4.1445

PMCID:: PMC43176

Summary Page Browse PDF–1.5M

Select item 66607007.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Article PDF–980K

Select item 65365928.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

Front Neurol. 2019; 10: 434. Published online 2019 May 21. doi: 10.3389/fneur.2019.00434

PMCID:: PMC6536592

Article PDF–405K

Select item 57220319.

Mutations in Epilepsy and Intellectual Disability Genes in Patients with Features of Rett Syndrome

Heather E. Olson, Dimira Tambunan, Christopher LaCoursiere, Marti Goldenberg, Rebecca Pinsky, Emilie Martin, Eugenia Ho, Omar Khwaja, Walter E. Kaufmann, Annapurna Poduri

Am J Med Genet A. Author manuscript; available in PMC 2017 Dec 8.

Published in final edited form as: Am J Med Genet A. 2015 Sep; 167A(9): 2017–2025. Published online 2015 Apr 25. doi: 10.1002/ajmg.a.37132

PMCID:: PMC5722031

Article PDF–102K

Select item 561300010.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group

Sci Rep. 2017; 7: 12288. Published online 2017 Sep 25. doi: 10.1038/s41598-017-11620-3

Correction in:: Sci Rep. 2021; 11: 18146.

PMCID:: PMC5613000

Article PDF–1.1M

Select item 546021411.

Opposing activities of oncogenic MIR17HG and tumor suppressive MIR100HG clusters and their gene targets regulate replicative senescence in human adult stem cells

Mary F. Lopez, Ping Niu, Lu Wang, Maryann Vogelsang, Meenakshi Gaur, Bryan Krastins, Yueqiang Zhao, Aibek Smagul, Aliya Nussupbekova, Aikan A. Akanov, I. King Jordan, Victoria V. Lunyak

NPJ Aging Mech Dis. 2017; 3: 7. Published online 2017 Apr 20. doi: 10.1038/s41514-017-0006-y

PMCID:: PMC5460214

Article PDF–2.9M

Select item 539840212.

Underexpression of HOXA11 Is Associated with Treatment Resistance and Poor Prognosis in Glioblastoma

Young-Bem Se, Seung Hyun Kim, Ji Young Kim, Ja Eun Kim, Yun-Sik Dho, Jin Wook Kim, Yong Hwy Kim, Hyun Goo Woo, Se-Hyuk Kim, Shin-Hyuk Kang, Hak Jae Kim, Tae Min Kim, Soon-Tae Lee, Seung Hong Choi, Sung-Hye Park, Il Han Kim, Dong Gyu Kim, Chul-Kee Park

Cancer Res Treat. 2017 Apr; 49(2): 387–398. Published online 2016 Jul 19. doi: 10.4143/crt.2016.106

PMCID:: PMC5398402

Article PDF–1.1M

Select item 538423713.

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

Ahmed Arafat, Peng Jing, Yuping Ma, Miao Pu, Gai Nan, He Fang, Chen Chen, Yin Fei

Sci Rep. 2017; 7: 46227. Published online 2017 Apr 7. doi: 10.1038/srep46227

PMCID:: PMC5384237

Article PDF–604K

Select item 412157814.

Interleukin-1β mediates macrophage-induced impairment of insulin signaling in human primary adipocytes

Dan Gao, Mohamed Madi, Cherlyn Ding, Matthew Fok, Thomas Steele, Christopher Ford, Leif Hunter, Chen Bing

Am J Physiol Endocrinol Metab. 2014 Aug 1; 307(3): E289–E304. Published online 2014 Jun 10. doi: 10.1152/ajpendo.00430.2013

PMCID:: PMC4121578

Article

Select item 349567315.

Genome-wide analysis of pain-, nerve- and neurotrophin -related gene expression in the degenerating human annulus

Helen E Gruber, Gretchen L Hoelscher, Jane A Ingram, Edward N Hanley, Jr

Mol Pain. 2012; 8: 63. Published online 2012 Sep 10. doi: 10.1186/1744-8069-8-63

PMCID:: PMC3495673

Article PDF–654K

Select item 307241816.

Differential Glucose-Regulation of MicroRNAs in Pancreatic Islets of Non-Obese Type 2 Diabetes Model Goto-Kakizaki Rat

Jonathan Lou S. Esguerra, Caroline Bolmeson, Corrado M. Cilio, Lena Eliasson

PLoS One. 2011; 6(4): e18613. Published online 2011 Apr 7. doi: 10.1371/journal.pone.0018613

PMCID:: PMC3072418

Article PDF–917K

Select item 263371917.

Age and Gender Related Differences in Human Parotid Gland Gene Expression

Alaka Srivastava, Jianghua Wang, Hui Zhou, James E. Melvin, David T. Wong

Arch Oral Biol. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Arch Oral Biol. 2008 Nov; 53(11): 1058–1070. Published online 2008 Jun 20. doi: 10.1016/j.archoralbio.2008.05.006

PMCID:: PMC2633719

Article PDF–1.3M

Select item 257036918.

Analysis of Porcine Transcriptional Response to Salmonella enterica serovar Choleraesuis suggests novel targets of NFkappaB are activated in the Mesenteric Lymph Node

Yanfang Wang, Oliver P Couture, Long Qu, Jolita J Uthe, Shawn MD Bearson, Daniel Kuhar, Joan K Lunney, Dan Nettleton, Jack CM Dekkers, Christopher K Tuggle

BMC Genomics. 2008; 9: 437. Published online 2008 Sep 23. doi: 10.1186/1471-2164-9-437

PMCID:: PMC2570369

Article PDF–1.3M

Select item 163711119.

Novel subtractive transcription-based amplification of mRNA (STAR) method and its application in search of rare and differentially expressed genes in AD brains

Qing Yan Liu, Roy R Sooknanan, Lawrence T Malek, Maria Ribecco-Lutkiewicz, Joy X Lei, Hui Shen, Boleslaw Lach, P Roy Walker, Joel Martin, Marianna Sikorska

BMC Genomics. 2006; 7: 286. Published online 2006 Nov 7. doi: 10.1186/1471-2164-7-286

PMCID:: PMC1637111

Article PDF–1.1M

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