Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin–Lowry syndrome

(2016) Jonathan D.J. Labonne et al.   GENE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

PANTHER version 10: expanded protein families and functions, and analysis tools

(2015) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Substrate Specificity Analysis and Novel Substrates of the Protein Lysine Methyltransferase NSD1

(2014) Srikanth Kudithipudi et al.   CHEMISTRY & BIOLOGY

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

(2014) Katrina Tatton-Brown et al.   NATURE GENETICS

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Mutations in EZH2 Cause Weaver Syndrome

(2011) William T. Gibson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural insights into the regulation and the recognition of histone marks by the SET domain of NSD1

(2011) Masayo Morishita et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome

(2011) Deirdre E. Donnelly et al.   CLINICAL DYSMORPHOLOGY

The Structure of NSD1 Reveals an Autoregulatory Mechanism Underlying Histone H3K36 Methylation

(2011) Qi Qiao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome

(2011) FRANCESCO NICITA et al.   JOURNAL OF GENETICS

SMART 7: recent updates to the protein domain annotation resource

(2011) I. Letunic et al.   NUCLEIC ACIDS RESEARCH

The Pfam protein families database

(2011) M. Punta et al.   NUCLEIC ACIDS RESEARCH

NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome

(2010) Martina P. Pasillas et al.   HUMAN MUTATION

Epigenetic modifications and human disease

(2010) Anna Portela et al.   NATURE BIOTECHNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Histone demethylases in development and disease

(2010) Marianne Terndrup Pedersen et al.   TRENDS IN CELL BIOLOGY

Premolar hypodontia is a common feature in Sotos syndrome with a mutation in theNSD1gene

(2009) Johanna Kotilainen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported

(2009) Claudia Fagali et al.   European Journal of Medical Genetics

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Transcriptome-guided characterization of genomic rearrangements in a breast cancer cell line

(2009) Qi Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

(2009) M. Berdasco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of NF- B by NSD1/FBXL11-dependent reversible lysine methylation of p65

(2009) T. Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA