PMC Links for Books (Select 5267906) - PMC

Select item 87565451.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

HGG Adv. 2022 Jan 13; 3(1): 100075. Published online 2021 Dec 3. doi: 10.1016/j.xhgg.2021.100075

PMCID:: PMC8756545

Abstract Article PDF–4.3M

Select item 70979562.

Histone methyltransferase SETD2: a potential tumor suppressor in solid cancers

Rui Chen, Wei-qing Zhao, Cheng Fang, Xin Yang, Mei Ji

J Cancer. 2020; 11(11): 3349–3356. Published online 2020 Mar 5. doi: 10.7150/jca.38391

PMCID:: PMC7097956

Abstract Article PDF–403K

Select item 67425673.

H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape

Daniel N. Weinberg, Simon Papillon-Cavanagh, Haifen Chen, Yuan Yue, Xiao Chen, Kartik N. Rajagopalan, Cynthia Horth, John T. McGuire, Xinjing Xu, Hamid Nikbakht, Agata E. Lemiesz, Dylan M. Marchione, Matthew R. Marunde, Matt Meiners, Marcus Cheek, Michael-Christopher Keogh, Eric Bareke, Anissa Djedid, Ashot S. Harutyunyan, Nada Jabado, Benjamin A. Garcia, Haitao Li, C. David Allis, Jacek Majewski, Chao Lu

Nature. Author manuscript; available in PMC 2020 Mar 4.

Published in final edited form as: Nature. 2019 Sep; 573(7773): 281–286. Published online 2019 Sep 4. doi: 10.1038/s41586-019-1534-3

PMCID:: PMC6742567

Abstract Article PDF–4.4M

Select item 65209894.

Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Patricia Heyn, Clare V. Logan, Adeline Fluteau, Rachel C. Challis, Tatsiana Auchynnikava, Carol-Anne Martin, Joseph A. Marsh, Francesca Taglini, Fiona Kilanowski, David A. Parry, Valerie Cormier-Daire, Chin-To Fong, Kate Gibson, Vivian Hwa, Lourdes Ibáñez, Stephen P. Robertson, Giorgia Sebastiani, Juri Rappsilber, Robin C. Allshire, Martin A.M. Reijns, Andrew Dauber, Duncan Sproul, Andrew P. Jackson

Nat Genet. Author manuscript; available in PMC 2019 May 26.

Published in final edited form as: Nat Genet. 2019 Jan; 51(1): 96–105. Published online 2018 Nov 26. doi: 10.1038/s41588-018-0274-x

PMCID:: PMC6520989

Abstract Article PDF–2.4M

Select item 64296145.

Roles of SETD2 in Leukemia—Transcription, DNA-Damage, and Beyond

Anna Skucha, Jessica Ebner, Florian Grebien

Int J Mol Sci. 2019 Mar; 20(5): 1029. Published online 2019 Feb 27. doi: 10.3390/ijms20051029

PMCID:: PMC6429614

Abstract Article PDF–915K

Select item 62312736.

SETD2 mutations in primary central nervous system tumors

Angela N. Viaene, Mariarita Santi, Jason Rosenbaum, Marilyn M. Li, Lea F. Surrey, MacLean P. Nasrallah

Acta Neuropathol Commun. 2018; 6: 123. Published online 2018 Nov 12. doi: 10.1186/s40478-018-0623-0

PMCID:: PMC6231273

Abstract Article PDF–4.5M

Select item 55450527.

Shaping the cellular landscape with Set2/SETD2 methylation

Stephen L. McDaniel, Brian D. Strahl

Cell Mol Life Sci. 2017 Sep; 74(18): 3317–3334. Published online 2017 Apr 6. doi: 10.1007/s00018-017-2517-x

PMCID:: PMC5545052

Abstract Article PDF–1.9M

Select item 52266168.

SETD2: an epigenetic modifier with tumor suppressor functionality

Jun Li, Gerben Duns, Helga Westers, Rolf Sijmons, Anke van den Berg, Klaas Kok

Oncotarget. 2016 Aug 2; 7(31): 50719–50734. Published online 2016 May 14. doi: 10.18632/oncotarget.9368

PMCID:: PMC5226616

Abstract Article PDF–2.2M

Select item 51018399.

Dual Chromatin and Cytoskeletal Remodeling by SETD2

In Young Park, Reid T. Powell, Durga Nand Tripathi, Ruhee Dere, Thai H. Ho, T. Lynne Blasius, Yun-Chen Chiang, Ian J. Davis, Catherine C. Fahey, Kathryn E. Hacker, Kristen J. Verhey, Mark T. Bedford, Eric Jonasch, W. Kimryn Rathmell, Cheryl Lyn Walker

Cell. Author manuscript; available in PMC 2017 Aug 11.

Published in final edited form as: Cell. 2016 Aug 11; 166(4): 950–962. doi: 10.1016/j.cell.2016.07.005

PMCID:: PMC5101839

Abstract Article PDF–1.9M

Select item 490642710.

A New Case of an Extremely Rare 3p21.31 Interstitial Deletion

Luca Lovrecic, Sara Bertok, Mojca Žerjav Tanšek

Mol Syndromol. 2016 May; 7(2): 93–98. Published online 2016 Apr 19. doi: 10.1159/000445227

PMCID:: PMC4906427

Abstract Article PDF–265K

Select item 473192511.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 454475312.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 352880113.

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak, Laura Vives, Wenqing Fu, Jarrett D. Egertson, Ian B. Stanaway, Ian G. Phelps, Gemma Carvill, Akash Kumar, Choli Lee, Katy Ankenman, Jeff Munson, Joseph B. Hiatt, Emily H. Turner, Roie Levy, Diana R. O’Day, Niklas Krumm, Bradley P. Coe, Beth K. Martin, Elhanan Borenstein, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Joshua M. Akey, Raphael Bernier, Evan E. Eichler, Jay Shendure

Science. Author manuscript; available in PMC 2013 Jun 21.

Published in final edited form as: Science. 2012 Dec 21; 338(6114): 1619–1622. Published online 2012 Nov 15. doi: 10.1126/science.1227764

PMCID:: PMC3528801

Article PDF–945K

Select item 335057614.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Nik Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler

Nature. Author manuscript; available in PMC 2012 Nov 10.

Published in final edited form as: Nature. 2012 May 10; 485(7397): 246–250. Published online 2012 Apr 4. doi: 10.1038/nature10989

PMCID:: PMC3350576

Abstract Article PDF–480K

Select item 216839715.

Dynamic histone H3 methylation during gene induction: HYPB/Setd2 mediates all H3K36 trimethylation

John W Edmunds, Louis C Mahadevan, Alison L Clayton

EMBO J. 2008 Jan 23; 27(2): 406–420. Published online 2007 Dec 20. doi: 10.1038/sj.emboj.7601967

PMCID:: PMC2168397

Abstract Article PDF–399K

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