A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

PubWeight™: 1.04‹?› | Rank: Top 15%

🔗 View Article (PMC 3257749)

Published in Am J Hum Genet on January 13, 2012

Authors

Viviana Caputo1, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, Eugenio Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D Gelb, Lorenzo Stella, Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia

Author Affiliations

1: Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.

Articles citing this

Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet (2012) 3.33

The promise of whole-exome sequencing in medical genetics. J Hum Genet (2013) 1.95

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res (2014) 1.32

SMAD4 exerts a tumor-promoting role in hepatocellular carcinoma. Oncogene (2014) 0.89

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A (2012) 0.86

Pancreatic cancer genomics: insights and opportunities for clinical translation. Genome Med (2013) 0.82

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. Eur J Hum Genet (2014) 0.81

Myhre and LAPS syndromes: clinical and molecular review of 32 patients. Eur J Hum Genet (2014) 0.80

Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. Mol Autism (2016) 0.77

Chondrodysplasias and TGFβ signaling. Bonekey Rep (2015) 0.75

Resequencing at scale in neurodevelopmental disorders. Nat Genet (2017) 0.75

Smad4 regulates growth plate matrix production and chondrocyte polarity. Biol Open (2017) 0.75

SMAD3 and SMAD4 have a more dominant role than SMAD2 in TGFβ-induced chondrogenic differentiation of bone marrow-derived mesenchymal stem cells. Sci Rep (2017) 0.75

Natural history and life-threatening complications in Myhre syndrome and review of the literature. Eur J Pediatr (2016) 0.75

Articles cited by this

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc (2009) 137.99

UCSF Chimera--a visualization system for exploratory research and analysis. J Comput Chem (2004) 112.47

A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53

BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics (2010) 53.23

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62

Smad transcription factors. Genes Dev (2005) 13.43

TGFbeta signaling in growth control, cancer, and heritable disorders. Cell (2000) 12.38

The transforming growth factor-beta family. Annu Rev Cell Biol (1990) 10.62

Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science (1998) 7.08

TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes. Development (1997) 6.31

Transforming growth factor-beta 3 is required for secondary palate fusion. Nat Genet (1995) 4.46

FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination. Cell (2009) 4.11

Smad regulation in TGF-beta signal transduction. J Cell Sci (2001) 3.99

Mice deficient for BMP2 are nonviable and have defects in amnion/chorion and cardiac development. Development (1996) 3.91

Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet (2010) 3.50

Bone morphogenetic proteins in development. Curr Opin Genet Dev (1996) 3.37

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet (2004) 2.97

Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet (2009) 2.83

Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62

From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family. Nat Rev Genet (2003) 2.26

Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol (2007) 2.16

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78

Failure of ventral body wall closure in mouse embryos lacking a procollagen C-proteinase encoded by Bmp1, a mammalian gene related to Drosophila tolloid. Development (1996) 1.65

Structural basis of heteromeric smad protein assembly in TGF-beta signaling. Mol Cell (2004) 1.64

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A (2010) 1.49

Molecular evolution of a developmental pathway: phylogenetic analyses of transforming growth factor-beta family ligands, receptors and Smad signal transducers. Genetics (1999) 1.39

The L3 loop and C-terminal phosphorylation jointly define Smad protein trimerization. Nat Struct Biol (2001) 1.23

Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice. Dev Genet (1998) 1.18

Ubiquitin-dependent regulation of TGFbeta signaling in cancer. Neoplasia (2006) 1.14

Génie: literature-based gene prioritization at multi genomic scale. Nucleic Acids Res (2011) 1.10

Crystal structure of a transcriptionally active Smad4 fragment. Structure (1999) 1.08

A new growth deficiency syndrome. Clin Genet (1981) 1.04

The Smads. Genome Biol (2001) 1.03

Myhre syndrome: new reports, review, and differential diagnosis. J Med Genet (2003) 1.00

Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype. Am J Med Genet A (2005) 0.86

Clinical features and respiratory complications in Myhre syndrome. Eur J Med Genet (2011) 0.85

Case of Myhre syndrome with autism and peculiar skin histological findings. Am J Med Genet (2001) 0.84

LAPS syndrome and Myhre syndrome: two disorders or one? Am J Med Genet A (2009) 0.83

Second female case of Myhre syndrome. Clin Dysmorphol (2004) 0.81

Myhre's syndrome in a girl with normal intelligence. Am J Med Genet A (2005) 0.81

The fifth female patient with Myhre syndrome: further delineation. Clin Dysmorphol (2008) 0.80

Myhre syndrome with ataxia and cerebellar atrophy. Clin Dysmorphol (2011) 0.77

Geleophysic dysplasia vs. Myhre syndrome. Am J Med Genet (1996) 0.76

Myhre-GOMBO syndrome: possible lumping of two "old" new syndromes. Am J Med Genet (1995) 0.76

Articles by these authors

Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet (2003) 5.16

De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15

Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med (2014) 5.11

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature (2010) 4.38

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation (2007) 4.34

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97

Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet (2005) 3.76

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. J Exp Med (2008) 3.24

Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10

Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet (2005) 3.02

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90

Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease. Hepatology (2015) 2.81

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet (2005) 2.75

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57

Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics (2010) 2.56

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet (2002) 2.46

Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet (2011) 2.46

Klebsiella pneumoniae ST258 producing KPC-3 identified in italy carries novel plasmids and OmpK36/OmpK35 porin variants. Antimicrob Agents Chemother (2012) 2.46

Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms. Gastroenterology (2007) 2.32

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet (2006) 2.31

PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol (2004) 2.30

Therapeutic goals in the treatment of Gaucher disease. Semin Hematol (2004) 2.29

Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet (2007) 2.23

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood (2004) 2.19

The phosphatase SHP2 regulates the spacing effect for long-term memory induction. Cell (2009) 2.19

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet (2011) 2.14

Noonan syndrome. Lancet (2013) 2.13

A dynamic balance between gene activation and repression regulates the shade avoidance response in Arabidopsis. Genes Dev (2005) 2.08

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00

Can modern biology interpret the mystery of the birth of Christ? J Matern Fetal Neonatal Med (2014) 1.98

How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene? Am J Med Genet A (2003) 1.98

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet (2002) 1.96

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95

Genetics of congenital heart disease: the glass half empty. Circ Res (2013) 1.90

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89

Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet (2007) 1.86

Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain. J Neurosci (2006) 1.85

Multidimensional Prognostic Index based on a comprehensive geriatric assessment predicts short-term mortality in older patients with heart failure. Circ Heart Fail (2009) 1.83

Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab (2011) 1.82

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics (2008) 1.80

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood (2005) 1.80

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum Mutat (2004) 1.80

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet (2006) 1.78

Complete sequencing of an IncH plasmid carrying the blaNDM-1, blaCTX-M-15 and qnrB1 genes. J Antimicrob Chemother (2012) 1.77

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76

Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genet Med (2006) 1.72

A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70

Leopard syndrome. Orphanet J Rare Dis (2008) 1.69

PARK6-linked parkinsonism occurs in several European families. Ann Neurol (2002) 1.68

Deficiency and inhibition of cathepsin K reduce body weight gain and increase glucose metabolism in mice. Arterioscler Thromb Vasc Biol (2008) 1.64

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet (2011) 1.64

Recurrent triploidy of maternal origin. Eur J Hum Genet (2003) 1.62

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol (2011) 1.61

Development and validation of a multidimensional prognostic index for one-year mortality from comprehensive geriatric assessment in hospitalized older patients. Rejuvenation Res (2008) 1.60

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. Am J Physiol Cell Physiol (2007) 1.59

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11. Hum Genet (2002) 1.57

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. J Inherit Metab Dis (2011) 1.57

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet A (2005) 1.57

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56

Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. J Mol Cell Cardiol (2011) 1.55