Associated Papers
NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.
Romero VI et al.
Bmc Genomics, 2022
36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_1
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.
Brennan K et al.
Human Molecular Genetics, 2022
NSD1- and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis.
Peri S et al.
Nature Communications, 2017
29176703 (PubMed )
Supplement: 41467_2017_1877_MOESM13_ESM.xlsx › Peri_et_al._Suppl._Data_11
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human Genetics, 2017
28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
Impaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas.
Papillon-Cavanagh S et al.
Nature Genetics, 2017
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
Ha K et al.
Genes, 2016
The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.
Qiao Q et al.
The Journal of Biological Chemistry, 2011
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Waggoner DJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
NSD1 mutations in Sotos syndrome.
Faravelli F
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
Douglas J et al.
American Journal of Human Genetics, 2003
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