Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

PubWeight™: 1.00‹?› | Rank: Top 15%

🔗 View Article (PMC 1735419)

Published in J Med Genet on April 01, 2003

Authors

T Nagai, N Matsumoto, N Kurotaki, N Harada, N Niikawa, T Ogata, K Imaizumi, K Kurosawa, T Kondoh, H Ohashi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Yokoyama, K Uetake, S Sakazume, Y Fukushima, K Naritomi

Articles citing this

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet (2005) 1.55

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am J Hum Genet (2004) 1.27

Sotos syndrome. Orphanet J Rare Dis (2007) 1.12

Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci (2013) 1.10

Nizp1, a novel multitype zinc finger protein that interacts with the NSD1 histone lysine methyltransferase through a unique C2HR motif. Mol Cell Biol (2004) 0.93

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. Mol Syndromol (2013) 0.91

Chromosomal phenotypes and submicroscopic abnormalities. Hum Genomics (2004) 0.91

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. Pediatr Nephrol (2011) 0.88

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet (2003) 0.88

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter. BMC Med Genet (2005) 0.86

Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. Am J Med Genet A (2010) 0.81

Generation of the Sotos syndrome deletion in mice. Mamm Genome (2012) 0.79

Genetic syndromes associated with overgrowth in childhood. Ann Pediatr Endocrinol Metab (2013) 0.77

Structural basis for PHDVC5HCHNSD1-C2HRNizp1 interaction: implications for Sotos syndrome. Nucleic Acids Res (2016) 0.75

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort. Genes (Basel) (2016) 0.75

Articles by these authors

Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein. Proc Natl Acad Sci U S A (1988) 7.26

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet (1997) 4.95

Spatio-temporal images of growth-factor-induced activation of Ras and Rap1. Nature (2001) 4.83

Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science (1993) 4.63

Left-right asymmetric expression of the TGF beta-family member lefty in mouse embryos. Nature (1996) 3.79

Correlating telomerase activity levels with human neuroblastoma outcomes. Nat Med (1995) 3.74

Fate of bone marrow-derived cultured mast cells after intracutaneous, intraperitoneal, and intravenous transfer into genetically mast cell-deficient W/Wv mice. Evidence that cultured mast cells can give rise to both connective tissue type and mucosal mast cells. J Exp Med (1985) 3.69

Currents carried by monovalent cations through calcium channels in mouse neoplastic B lymphocytes. J Physiol (1985) 3.69

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57

Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr (1981) 3.55

Activation of caspase-12, an endoplastic reticulum (ER) resident caspase, through tumor necrosis factor receptor-associated factor 2-dependent mechanism in response to the ER stress. J Biol Chem (2001) 3.46

Light-driven monodirectional molecular rotor. Nature (1999) 3.32

Cytokine receptors and signal transduction. Annu Rev Immunol (1992) 3.27

ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells. J Biol Chem (1999) 3.25

High-dose intravenous gammaglobulin for Kawasaki disease. Lancet (1984) 3.10

Interleukin-3, granulocyte-macrophage colony stimulating factor and interleukin-5 transduce signals through two STAT5 homologs. EMBO J (1995) 2.90

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet (1996) 2.89

Skyrmion flow near room temperature in an ultralow current density. Nat Commun (2012) 2.87

On the mechanism of activation of muscarinic K+ channels by adenosine in isolated atrial cells: involvement of GTP-binding proteins. Pflugers Arch (1986) 2.81

Blocking kinetics of the anomalous potassium rectifier of tunicate egg studied by single channel recording. J Physiol (1982) 2.74

Regulation of eIF-4E BP1 phosphorylation by mTOR. J Biol Chem (1997) 2.73

In vivo transfection of cis element "decoy" against nuclear factor-kappaB binding site prevents myocardial infarction. Nat Med (1997) 2.72

Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3----p35. Diabetes (1987) 2.72

Purified interleukin 5 supports the terminal differentiation and proliferation of murine eosinophilic precursors. J Exp Med (1988) 2.71

Unmasking of latent hypoparathyroidism in a child with partial DiGeorge syndrome by ethylenediaminetetraacetic acid infusion. Eur J Pediatr (1993) 2.69

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. Eur J Pediatr (1995) 2.66

Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome. Am J Med Genet (2000) 2.54

Nucleotide sequence of the PR-1 gene of Nicotiana tabacum. FEBS Lett (1987) 2.53

Critical roles of TRAF2 and TRAF5 in tumor necrosis factor-induced NF-kappa B activation and protection from cell death. J Biol Chem (2001) 2.50

Activation of protein kinase C by elevation of glucose concentration: proposal for a mechanism in the development of diabetic vascular complications. Proc Natl Acad Sci U S A (1989) 2.45

PTEN1 is frequently mutated in primary endometrial carcinomas. Nat Genet (1997) 2.44

Interleukin-6 (IL-6) functions as an in vitro autocrine growth factor in renal cell carcinomas. FEBS Lett (1989) 2.43

Serum undercarboxylated osteocalcin was inversely associated with plasma glucose level and fat mass in type 2 diabetes mellitus. Osteoporos Int (2010) 2.40

Somatic activation of beta-catenin bypasses pre-TCR signaling and TCR selection in thymocyte development. Nat Immunol (2001) 2.39

A novel inhibitor of the STAT3 pathway induces apoptosis in malignant glioma cells both in vitro and in vivo. Oncogene (2006) 2.37

Human laminin B1 chain. A multidomain protein with gene (LAMB1) locus in the q22 region of chromosome 7. J Biol Chem (1987) 2.36

Mosaic and polymorphic imprinting of the WT1 gene in humans. Nat Genet (1994) 2.35

Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus. Nature (1996) 2.35

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet (1992) 2.35

Two cis-acting elements in the 3' untranslated region of alpha-CaMKII regulate its dendritic targeting. Nat Neurosci (2000) 2.34

Protective effect of naturally acquired homotypic and heterotypic rotavirus antibodies. Lancet (1986) 2.29

Cloning of complementary DNA encoding T-cell replacing factor and identity with B-cell growth factor II. Nature (1986) 2.28

Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. Science (1999) 2.25

Collective review of small carcinomas of the pancreas. Ann Surg (1986) 2.24

Increased plasma level of endothelin-1 and coronary spasm induction in patients with vasospastic angina pectoris. Circulation (1991) 2.23

Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet (1986) 2.22

Tumor of the ampulla of Vater: experience with local or radical resection in 171 consecutively treated patients. Arch Surg (1999) 2.20

Endoscopic submucosal dissection for early gastric cancer performed by supervised residents: assessment of feasibility and learning curve. Endoscopy (2009) 2.20

LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids. Hum Mol Genet (1999) 2.16

Immunosuppression, liver injury, and hepatitis in renal, hepatic, and cardiac homograft recipients: with particular reference to the Australia antigen. Ann Surg (1971) 2.14

Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response. Nat Cell Biol (1999) 2.14

Frequent epigenetic inactivation of Wnt antagonist genes in breast cancer. Br J Cancer (2008) 2.13

Prions prevent neuronal cell-line death. Nature (1999) 2.13

Loss of cerebellar Purkinje cells in aged mice homozygous for a disrupted PrP gene. Nature (1996) 2.13

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet (1999) 2.12

p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males. Eur J Neurol (2013) 2.11

Angiotensin II type 1a receptor-deficient mice with hypotension and hyperreninemia. J Biol Chem (1995) 2.11

The Ras target AF-6 interacts with ZO-1 and serves as a peripheral component of tight junctions in epithelial cells. J Cell Biol (1997) 2.10

Kawasaki disease: effect of treatment on coronary artery involvement. Pediatrics (1979) 2.08

Essential role of nuclear factor (NF)-kappaB-inducing kinase and inhibitor of kappaB (IkappaB) kinase alpha in NF-kappaB activation through lymphotoxin beta receptor, but not through tumor necrosis factor receptor I. J Exp Med (2001) 2.07

Potassium current in clonal cytotoxic T lymphocytes from the mouse. J Physiol (1984) 2.07

Expression levels of DNA methyltransferase genes do not correlate with p15INK4B gene methylation in myelodysplastic syndromes. Leukemia (2003) 2.06

A comparison of three methods used for treatment of ranula. J Oral Maxillofac Surg (1995) 2.03

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet (2000) 2.02

Telomerase activity in gastric cancer. Cancer Res (1995) 2.02

Biosynthesis of storage proteins in developing rice seeds. Plant Physiol (1982) 2.01

Two cases of bilateral bronchial artery varices: one with and one without bilateral coronary-to-pulmonary artery fistulas. Review and characterization of the clinical features of bronchial artery varices reported in Japan. Clin Radiol (2012) 2.00

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet (1999) 2.00

Experience of a specialist centre in the management of anastomotic sinus following leaks after low rectal or ileal pouch-anal anastomosis with diverting stoma. Colorectal Dis (2013) 1.98

Bone anatomy and rotational alignment in total knee arthroplasty. Clin Orthop Relat Res (2002) 1.98

Endothelium-dependent flow-mediated vasodilation in coronary and brachial arteries in suspected coronary artery disease. Am J Cardiol (1998) 1.96

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. Clin Genet (1991) 1.96

Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. Hum Genet (1996) 1.96

Amelioration of accelerated diabetic mesangial expansion by treatment with a PKC beta inhibitor in diabetic db/db mice, a rodent model for type 2 diabetes. FASEB J (2000) 1.93

High resolution-banded chromosomes from patients with Sotos syndrome. Clin Genet (1991) 1.92

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet (2003) 1.92

Successful screening for early esophageal cancer in alcoholics using endoscopy and mucosa iodine staining. Cancer (1995) 1.91

Salvage of infarcted myocardium by angiogenic action of basic fibroblast growth factor. Science (1992) 1.90

Modulation of noradrenergic transmission in the guinea-pig mesenteric artery: an electrophysiological study. J Physiol (1983) 1.90

Cloning of inv, a gene that controls left/right asymmetry and kidney development. Nature (1998) 1.90

Electrical tuning in hair cells isolated from the chick cochlea. J Neurosci (1988) 1.88

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet (1997) 1.88

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet (1995) 1.86

Poly(ADP-ribose) polymerase gene disruption conferred mice resistant to streptozotocin-induced diabetes. Proc Natl Acad Sci U S A (1999) 1.85

A mouse prion protein transgene rescues mice deficient for the prion protein gene from purkinje cell degeneration and demyelination. Lab Invest (1999) 1.83

Regulation of abdominal adiposity by probiotics (Lactobacillus gasseri SBT2055) in adults with obese tendencies in a randomized controlled trial. Eur J Clin Nutr (2010) 1.82

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80