PMC Links for Nucleotide (Select 1722218942) - PMC

Select item 66592351.

SET domain containing protein 5 (SETD5) enhances tumor cell invasion and is associated with a poor prognosis in non-small cell lung cancer patients

Hairu Yu, Jiayi Sun, Congxuan Zhao, Haotian Wang, Yeqiu Liu, Jiajia Xiong, Jing Chang, Mixue Wang, Wenhui Wang, Dongman Ye, Hongyan Zhou, Tao Yu

BMC Cancer. 2019; 19: 736. Published online 2019 Jul 25. doi: 10.1186/s12885-019-5944-2

PMCID:: PMC6659235

Abstract Article PDF–6.1M

Select item 64053132.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Curró, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin-Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bucan, Susan Zeesman, Małgorzata J. M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Charles Perrine, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles Schwartz, Corrado Romano, Erik Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan

Genet Med. 2019; 21(4): 816–825. Published online 2018 Sep 7. doi: 10.1038/s41436-018-0266-3

PMCID:: PMC6405313

Abstract Article PDF–1012K

Select item 47950443.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Alma Kuechler, Alexander M Zink, Thomas Wieland, Hermann-Josef Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, Kimia Najafi, Christiane Zweier, Johanna Christina Czeschik, Stefan Aretz, Sabine Endele, Federica Tamburrino, Claudia Pinato, Maurizio Clementi, Jasmin Gundlach, Carina Maylahn, Laura Mazzanti, Eva Wohlleber, Thomas Schwarzmayr, Roxana Kariminejad, Avner Schlessinger, Dagmar Wieczorek, Tim M Strom, Gaia Novarino, Hartmut Engels

Eur J Hum Genet. 2015 Jun; 23(6): 753–760. Published online 2014 Aug 20. doi: 10.1038/ejhg.2014.165

PMCID:: PMC4795044

Abstract Article PDF–5.0M

Select item 39805214.

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Michael J. Parker, Hayley Archer, Helen V. Firth, Soo-Mi Park, Natalie Canham, Susan E. Holder, Meredith Wilson, Anna Hackett, Michael Field, James A.B. Floyd, UK10K Consortium, Matthew Hurles, F. Lucy Raymond

Am J Hum Genet. 2014 Apr 3; 94(4): 618–624. doi: 10.1016/j.ajhg.2014.03.006

PMCID:: PMC3980521

Abstract Article PDF–1.2M

Select item 67118485.

A 2x folic acid treatment affects epigenetics and dendritic spine densities in SHSY5Y cells

Rahaf Al Sayed, Whitnei Smith, Nicole Rogers, Nuri Smith, Daniel Clark, Gabriel Castillo, Hunter McLeod, Stewart Glenister, Kimberly R. Shorter

Biochem Biophys Rep. 2019 Dec; 20: 100681. Published online 2019 Aug 17. doi: 10.1016/j.bbrep.2019.100681

PMCID:: PMC6711848

Abstract Article PDF–1.0M

Select item 54728826.

Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh

BMC Med Genet. 2017; 18: 68. Published online 2017 Jun 15. doi: 10.1186/s12881-017-0429-0

PMCID:: PMC5472882

Abstract Article PDF–1.7M

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