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Select item 110596741.

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome

Zhuo Ren, Ling Yue, Hua-ying Hu, Xiao-lin Hou, Wen-qi Chen, Ya Tan, Zhe Dong, Jing Zhang

BMC Med Genomics. 2024; 17: 116. Published online 2024 Apr 29. doi: 10.1186/s12920-024-01889-5

PMCID:: PMC11059674

Abstract Article PDF–3.0M

Select item 99565752.

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri, Chiara Baldo, Alessia Arado, Laura Andraghetti, Michela Malacarne, Donatella Milani, Domenico Coviello, Sotos Collaborative Group

Genes (Basel) 2023 Feb; 14(2): 295. Published online 2023 Jan 22. doi: 10.3390/genes14020295

PMCID:: PMC9956575

Abstract Article PDF–1.2M

Select item 97838423.

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome

Vanessa I. Romero, Benjamin Arias-Almeida, Stefanie A. Aguiar

BMC Genomics. 2022; 23: 849. Published online 2022 Dec 22. doi: 10.1186/s12864-022-09071-w

PMCID:: PMC9783842

Abstract Article PDF–2.0M

Select item 92623964.

NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome

Kevin Brennan, Hong Zheng, Jill A Fahrner, June Ho Shin, Andrew J Gentles, Bradley Schaefer, John B Sunwoo, Jonathan A Bernstein, Olivier Gevaert

Hum Mol Genet. 2022 Jul 1; 31(13): 2164–2184. Published online 2022 Jan 31. doi: 10.1093/hmg/ddac026

PMCID:: PMC9262396

Abstract Article PDF–1.4M

Select item 89737185.

Knockdown of nuclear receptor binding SET domain-containing protein 1 (NSD1) inhibits proliferation and facilitates apoptosis in paclitaxel-resistant breast cancer cells via inactivating the Wnt/β-catenin signaling pathway

Yi Chen, Xiao Li, Jin Xu, Hua Xiao, Cuiju Tang, Wei Liang, Xuedan Zhu, Yueyu Fang, Hanjin Wang, Junfeng Shi

Bioengineered. 2022; 13(2): 3526–3536. Published online 2022 Feb 24. doi: 10.1080/21655979.2021.2018973

PMCID:: PMC8973718

Abstract Article PDF–2.0M

Select item 80060586.

Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinoma

Nargess Farhangdoost, Cynthia Horth, Bo Hu, Eric Bareke, Xiao Chen, Yinglu Li, Mariel Coradin, Benjamin A. Garcia, Chao Lu, Jacek Majewski

Cell Rep. Author manuscript; available in PMC 2021 Mar 29.

Published in final edited form as: Cell Rep. 2021 Feb 23; 34(8): 108769. doi: 10.1016/j.celrep.2021.108769

PMCID:: PMC8006058

Abstract Article PDF–3.0M

Select item 68547177.

CRISPR/Cas9-mediated knockout of NSD1 suppresses the hepatocellular carcinoma development via the NSD1/H3/Wnt10b signaling pathway

Shuhua Zhang, Fan Zhang, Qing Chen, Chidan Wan, Jun Xiong, Jianqun Xu

J Exp Clin Cancer Res. 2019; 38: 467. Published online 2019 Nov 14. doi: 10.1186/s13046-019-1462-y

PMCID:: PMC6854717

Abstract Article PDF–2.4M

Select item 66931448.

Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1

Daniel E. Martin-Herranz, Erfan Aref-Eshghi, Marc Jan Bonder, Thomas M. Stubbs, Sanaa Choufani, Rosanna Weksberg, Oliver Stegle, Bekim Sadikovic, Wolf Reik, Janet M. Thornton

Genome Biol. 2019; 20: 146. Published online 2019 Aug 14. doi: 10.1186/s13059-019-1753-9

PMCID:: PMC6693144

Abstract Article PDF–3.6M

Select item 64549239.

Hyperinsulinemic Hypoglycemia in Seven Patients with de novo NSD1 Mutations

Katheryn Grand, Christina Gonzalez-Gandolfi, Amanda M. Ackermann, Deema Aljeaid, Emma Bedoukian, Lynne M. Bird, Diva D. De Leon, Jullianne Diaz, Robert J. Hopkin, Sejal P. Kadakia, Beth Keena, Karen O. Klein, Ian Krantz, Eyby Leon, Katherine Lord, Carey McDougall, Livija Medne, Cara M. Skraban, Charles A. Stanley, Jennifer Tarpinian, Elaine Zackai, Matthew A. Deardorff, Jennifer M. Kalish

Am J Med Genet A. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Am J Med Genet A. 2019 Apr; 179(4): 542–551. Published online 2019 Feb 4. doi: 10.1002/ajmg.a.61062

PMCID:: PMC6454923

Abstract Article PDF–348K

Select item 603046410.

Disruption of NSD1 in head and neck cancer promotes favorable chemotherapeutic responses linked to hypomethylation

Nam Bui, Justin K. Huang, Ana Bojorquez-Gomez, Katherine Licon, Kyle S. Sanchez, Sean N. Tang, Alex N. Beckett, Tina Wang, Wei Zhang, John Paul Shen, Jason F. Kreisberg, Trey Ideker

Mol Cancer Ther. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Mol Cancer Ther. 2018 Jul; 17(7): 1585–1594. Published online 2018 Apr 10. doi: 10.1158/1535-7163.MCT-17-0937

PMCID:: PMC6030464

Abstract Article PDF–787K

Select item 483865311.

Dynamic behavior of the post‐SET loop region of NSD1: Implications for histone binding and drug development

Sarah E. Graham, Sara E. Tweedy, Heather A. Carlson

Protein Sci. 2016 May; 25(5): 1021–1029. Published online 2016 Mar 31. doi: 10.1002/pro.2912

PMCID:: PMC4838653

Abstract Article PDF–1.1M

Select item 470386412.

NSD1 mutations generate a genome-wide DNA methylation signature

S. Choufani, C. Cytrynbaum, B. H. Y. Chung, A. L. Turinsky, D. Grafodatskaya, Y. A. Chen, A. S. A. Cohen, L. Dupuis, D. T. Butcher, M. T. Siu, H. M. Luk, I. F. M. Lo, S. T. S. Lam, O. Caluseriu, D. J. Stavropoulos, W. Reardon, R. Mendoza-Londono, M. Brudno, W. T. Gibson, D. Chitayat, R. Weksberg

Nat Commun. 2015; 6: 10207. Published online 2015 Dec 22. doi: 10.1038/ncomms10207

PMCID:: PMC4703864

Abstract Article PDF–1.0M

Select item 224856513.

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

Joseph D Buxbaum, Guiqing Cai, Gudrun Nygren, Pauline Chaste, Richard Delorme, Juliet Goldsmith, Maria Råstam, Jeremy M Silverman, Eric Hollander, Christopher Gillberg, Marion Leboyer, Catalina Betancur

BMC Med Genet. 2007; 8: 68. Published online 2007 Nov 14. doi: 10.1186/1471-2350-8-68

PMCID:: PMC2248565

Abstract Article PDF–489K

Select item 173549214.

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

M Rio, L Clech, J Amiel, L Faivre, S Lyonnet, M Le Merrer, S Odent, D Lacombe, P Edery, R Brauner, O Raoul, P Gosset, M Prieur, M Vekemans, A Munnich, L Colleaux, V Cormier-Daire

J Med Genet. 2003 Jun; 40(6): 436–440. doi: 10.1136/jmg.40.6.436

PMCID:: PMC1735492

Summary PDF–167K

Select item 173526815.

Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

P Hoglund, N Kurotaki, S Kytola, N Miyake, M Somer, N Matsumoto

J Med Genet. 2003 Jan; 40(1): 51–54. doi: 10.1136/jmg.40.1.51

PMCID:: PMC1735268

Summary PDF–160K

Select item 122454216.

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Katrina Tatton-Brown, Jenny Douglas, Kim Coleman, Geneviève Baujat, Trevor R. P. Cole, Soma Das, Denise Horn, Helen E. Hughes, I. Karen Temple, Francesca Faravelli, Darrel Waggoner, Seval Türkmen, Valérie Cormier-Daire, Alexandre Irrthum, Nazneen Rahman, Childhood Overgrowth Collaboration

Am J Hum Genet. 2005 Aug; 77(2): 193–204. Published online 2005 Jun 7. doi: 10.1086/432082

PMCID:: PMC1224542

Abstract Article PDF–1.2M

Select item 118194717.

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Munnich, Christine Gicquel, Valérie Cormier-Daire, Laurence Colleaux

Am J Hum Genet. 2004 Apr; 74(4): 715–720. Published online 2004 Mar 1. doi: 10.1086/383093

PMCID:: PMC1181947

Abstract Article PDF–261K

Select item 37861818.

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Jenny Douglas, Sandra Hanks, I. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, Trevor R. P. Cole, Nazneen Rahman

Am J Hum Genet. 2003 Jan; 72(1): 132–143. Published online 2002 Dec 2. doi: 10.1086/345647

PMCID:: PMC378618

Abstract Article PDF–506K

Select item 697306019.

DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2‐DMR0 as a DNA methylation‐dependent, P0 promoter‐specific enhancer

Hidetaka Watanabe, Ken Higashimoto, Noriko Miyake, Sumiyo Morita, Takuro Horii, Mika Kimura, Takayuki Suzuki, Toshiyuki Maeda, Hidenori Hidaka, Saori Aoki, Hitomi Yatsuki, Nobuhiko Okamoto, Tetsuji Uemura, Izuho Hatada, Naomichi Matsumoto, Hidenobu Soejima

FASEB J. 2020 Jan; 34(1): 960–973. Published online 2019 Nov 28. doi: 10.1096/fj.201901757R

PMCID:: PMC6973060

Abstract Article PDF–1.2M

Select item 654416520.

Expression and prognostic value of NSD1 and SETD2 in pancreatic ductal adenocarcinoma and its precursor lesions

Mark Ettel, Lili Zhao, Shula Schechter, Jiaqi Shi

Pathology. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: Pathology. 2019 Jun; 51(4): 392–398. Published online 2019 May 3. doi: 10.1016/j.pathol.2019.02.005

PMCID:: PMC6544165

Abstract Article PDF–595K

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