PMC Links for Nucleotide (Select 1519312007) - PMC

Select item 67522971.

Cyril Mignot, Aoife C. McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnerias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth J. Donner, Bénédicte Duban-Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin-Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminska, Boris Keren, Marije Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanovic, Julia Métreau, Jacques L. Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie-Laure Moutard, Arnold Munnich, Xilma R. Ortiz-Gonzalez, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quelin, Alyssa R. Rosen, Joelle Roume, Elsa Rossignol, Marleen E. H. Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel P. Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby Koeleman, Rikke S. Møller, Gaetan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

Genet Med. 2019; 21(4): 837–849. Published online 2018 Sep 12. doi: 10.1038/s41436-018-0268-1

Correction in:: Genet Med. 2019; 21(8): 1897–1898.

PMCID:: PMC6752297

Abstract Article PDF–1.0M

Select item 66282592.

IQSEC2-Associated Intellectual Disability and Autism

Nina S. Levy, George K. E. Umanah, Eli J. Rogers, Reem Jada, Orit Lache, Andrew P. Levy

Int J Mol Sci. 2019 Jun; 20(12): 3038. Published online 2019 Jun 21. doi: 10.3390/ijms20123038

PMCID:: PMC6628259

Abstract Article PDF–1.0M

Select item 36328373.

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Cheryl Shoubridge, Patrick S Tarpey, Fatima Abidi, Sarah L Ramsden, Sinitdhorn Rujirabanjerd, Jessica A Murphy, Jackie Boyle, Marie Shaw, Alison Gardner, Anne Proos, Helen Puusepp, F Lucy Raymond, Charles E Schwartz, Roger E Stevenson, Gill Turner, Michael Field, Randall S Walikonis, Robert J Harvey, Anna Hackett, P Andrew Futreal, Michael R Stratton, Jozef Gécz

Nat Genet. Author manuscript; available in PMC 2013 Apr 23.

Published in final edited form as: Nat Genet. 2010 Jun; 42(6): 486–488. Published online 2010 May 16. doi: 10.1038/ng.588

PMCID:: PMC3632837

Abstract Article PDF–956K

Select item 67069594.

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica HN Thai, Laura Määttänen, Maria Arvio, Irma Jarvela, Marie Shaw, Alison Gardner, Jozef Gecz, Cheryl Shoubridge

Life Sci Alliance. 2019 Aug; 2(4): e201900386. Published online 2019 Aug 22. doi: 10.26508/lsa.201900386

PMCID:: PMC6706959

Abstract Article PDF–2.6M

Select item 61259905.

Novel and de novo mutations in pediatric refractory epilepsy

Jing Liu, Lili Tong, Shuangshuang Song, Yue Niu, Jun Li, Xiu Wu, Jie Zhang, Celement C. Zai, Fang Luo, Jian Wu, Haiyin Li, Albert H. C. Wong, Ruopeng Sun, Fang Liu, Baomin Li

Mol Brain. 2018; 11: 48. Published online 2018 Sep 5. doi: 10.1186/s13041-018-0392-5

Correction in:: Mol Brain. 2018; 11: 59.

PMCID:: PMC6125990

Abstract Article PDF–980K

Select item 57220316.

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

Abstract Article PDF–102K

Select item 55349497.

Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis

S J Hinze, M R Jackson, S Lie, L Jolly, M Field, S C Barry, R J Harvey, C Shoubridge

Transl Psychiatry. 2017 May; 7(5): e1110. Published online 2017 May 2. doi: 10.1038/tp.2017.81

PMCID:: PMC5534949

Abstract Article PDF–1.3M

Select item 48785818.

Allosteric properties of PH domains in Arf regulatory proteins

Neeladri Sekhar Roy, Marielle E. Yohe, Paul A. Randazzo, James M. Gruschus

Cell Logist. 2016 Apr-Jun; 6(2): e1181700. Published online 2016 Apr 26. doi: 10.1080/21592799.2016.1181700

PMCID:: PMC4878581

Abstract Article PDF–1.0M

Select item 46942189.

A six-microRNA set as prognostic indicators for bile duct cancer

Ming Wang, Tian-Fu Wen, Lin-Hai He, Chuan Li, Wen-Jiang Zhu, Narasimha Murthy Trishul

Int J Clin Exp Med. 2015; 8(10): 17261–17270. Published online 2015 Oct 15.

PMCID:: PMC4694218

Abstract Article PDF–1.7M

Select item 368041310.

Distinct MicroRNAs Expression Profile in Primary Biliary Cirrhosis and Evaluation of miR 505-3p and miR197-3p as Novel Biomarkers

Masashi Ninomiya, Yasuteru Kondo, Ryo Funayama, Takeshi Nagashima, Takayuki Kogure, Eiji Kakazu, Osamu Kimura, Yoshiyuki Ueno, Keiko Nakayama, Tooru Shimosegawa

PLoS One. 2013; 8(6): e66086. Published online 2013 Jun 12. doi: 10.1371/journal.pone.0066086

PMCID:: PMC3680413

Abstract Article PDF–1.6M

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