Published in Hum Mutat on March 01, 2011
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol (2011) 1.41
Matrix-dependent perturbation of TGFβ signaling and disease. FEBS Lett (2012) 1.31
Elastin in large artery stiffness and hypertension. J Cardiovasc Transl Res (2012) 1.21
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet (2012) 1.15
The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa. Exp Dermatol (2012) 0.97
Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. Matrix Biol (2013) 0.94
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat (2012) 0.93
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. Orphanet J Rare Dis (2013) 0.90
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet (2015) 0.87
Skin findings in Williams syndrome. Am J Med Genet A (2014) 0.85
A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. Nat Commun (2015) 0.85
Extracellular matrix and the mechanics of large artery development. Biomech Model Mechanobiol (2012) 0.84
Improving the rigor of mutation reports: biologic parentage and de novo mutations. Hum Mutat (2012) 0.83
Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy. Eur J Pediatr (2012) 0.82
Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. J Biol Chem (2012) 0.81
Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability. Hum Mol Genet (2015) 0.81
Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Circulation (2016) 0.77
Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical properties of elastin-like polypeptides. PLoS One (2012) 0.76
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. Front Physiol (2017) 0.76
GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations. Int J Mol Sci (2017) 0.75
A novel elastin gene mutation in a Vietnamese patient with cutis laxa. Pediatr Dermatol (2014) 0.75
Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center. Clinics (Sao Paulo) (2014) 0.75
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. Am J Med Genet A (2017) 0.75
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature (1991) 11.44
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet (2003) 11.01
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science (2006) 10.25
Myofibroblast contraction activates latent TGF-beta1 from the extracellular matrix. J Cell Biol (2007) 5.60
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
The molecular genetics of Marfan syndrome and related disorders. J Med Genet (2006) 2.45
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet (1994) 2.25
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet (2002) 2.07
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet (2006) 1.99
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. J Invest Dermatol (2005) 1.82
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem (1999) 1.79
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet (1998) 1.75
Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet (2002) 1.54
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet (2003) 1.49
Elastic fiber formation: a dynamic view of extracellular matrix assembly using timer reporters. J Cell Physiol (2006) 1.47
Tropoelastin interacts with cell-surface glycosaminoglycans via its COOH-terminal domain. J Biol Chem (2005) 1.46
The role of plastic surgery in congenital cutis laxa: a 10-year follow-up. Plast Reconstr Surg (1999) 1.42
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet (2005) 1.40
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet (2009) 1.34
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet (2006) 1.31
The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase. J Clin Invest (1993) 1.29
A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol (2004) 1.29
The stumbling block in lung repair of emphysema: elastic fiber assembly. Proc Am Thorac Soc (2006) 1.28
Genetic disorders of the elastic fiber system. Matrix Biol (2000) 1.21
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet (2008) 1.20
67-kD elastin-binding protein is a protective "companion" of extracellular insoluble elastin and intracellular tropoelastin. J Cell Biol (1994) 1.18
The prevalence of bicuspid aortic valve in newborns by echocardiographic screening. Am Heart J (2005) 1.17
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. Am J Hum Genet (2009) 1.17
Microfibril-associated glycoprotein binds to the carboxyl-terminal domain of tropoelastin and is a substrate for transglutaminase. J Biol Chem (1994) 1.17
Elastic fiber macro-assembly is a hierarchical, cell motion-mediated process. J Cell Physiol (2006) 1.09
Characterization of the molecular interaction between tropoelastin and DANCE/fibulin-5. J Biochem (2008) 1.01
Mechanisms of emphysema in autosomal dominant cutis laxa. Matrix Biol (2010) 0.99
Development of a new in vitro model of elastic fiber assembly in human pigmented epithelial cells. Clin Biochem (2005) 0.97
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet A (2008) 0.94
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet (2009) 0.92
Cutis laxa of the autosomal recessive type in a consanguineous family. Eur J Dermatol (2004) 0.90
A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. J Invest Dermatol (1980) 0.90
Occipital horn syndrome: report of a patient and review of the literature. Clin Genet (1994) 0.89
Cutis laxa. Johns Hopkins Med J (1982) 0.82
Autosomal recessive cutis laxa syndrome. A case report. Acta Derm Venereol (1996) 0.77
Cutis laxa in seven members of a north-Indian family. Pediatr Dermatol (2002) 0.77
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol (2002) 82.19
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol (2007) 16.15
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med (2006) 9.50
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. J Cell Biol (2010) 7.62
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med (2008) 7.31
TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest (2004) 4.85
Elimination of primer-dimer artifacts and genomic coamplification using a two-step SYBR green I real-time RT-PCR. Anal Biochem (2002) 4.54
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet (2003) 4.44
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet (2007) 4.20
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet (2004) 4.09
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet (2010) 3.36
A genome-wide search identifies epigenetic silencing of somatostatin, tachykinin-1, and 5 other genes in colon cancer. Gastroenterology (2006) 3.20
Pharmacologic unmasking of epigenetically silenced tumor suppressor genes in esophageal squamous cell carcinoma. Cancer Cell (2002) 3.12
Elastin fragments drive disease progression in a murine model of emphysema. J Clin Invest (2006) 3.11
RTPrimerDB: the real-time PCR primer and probe database. Nucleic Acids Res (2003) 3.06
Vascular extracellular matrix and arterial mechanics. Physiol Rev (2009) 3.05
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet (2006) 2.94
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol (2006) 2.76
Circulating transforming growth factor-beta in Marfan syndrome. Circulation (2009) 2.69
Hypertension and prolonged vasoconstrictor signaling in RGS2-deficient mice. J Clin Invest (2003) 2.68
Rapid detection of VHL exon deletions using real-time quantitative PCR. Lab Invest (2005) 2.61
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science (2011) 2.47
The miR-106b-25 polycistron, activated by genomic amplification, functions as an oncogene by suppressing p21 and Bim. Gastroenterology (2009) 2.35
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet (2007) 2.32
New insights into elastic fiber assembly. Birth Defects Res C Embryo Today (2007) 2.20
Genome-wide analysis of aberrant methylation in human breast cancer cells using methyl-DNA immunoprecipitation combined with high-throughput sequencing. BMC Genomics (2010) 2.19
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. Am J Med Genet A (2005) 2.16
Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies. Blood (2003) 2.13
RTPrimerDB: the real-time PCR primer and probe database, major update 2006. Nucleic Acids Res (2006) 2.11
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Antitumor activity of the selective MDM2 antagonist nutlin-3 against chemoresistant neuroblastoma with wild-type p53. J Natl Cancer Inst (2009) 2.09
Inactivation of p16, RUNX3, and HPP1 occurs early in Barrett's-associated neoplastic progression and predicts progression risk. Oncogene (2005) 2.07
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet (2002) 2.07
Effects of elastin haploinsufficiency on the mechanical behavior of mouse arteries. Am J Physiol Heart Circ Physiol (2005) 2.06
Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency. J Clin Invest (2003) 2.05
Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome. Arthritis Care Res (Hoboken) (2012) 2.01
Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscul Disord (2013) 2.01
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet (2006) 1.99
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol (2012) 1.98
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet (2002) 1.96
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med (2010) 1.94
Dexamethasone induction of hypertension and diabetes is PPAR-alpha dependent in LDL receptor-null mice. Nat Med (2003) 1.94
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. Am J Med Genet (2002) 1.91
Lysyl oxidase is required for vascular and diaphragmatic development in mice. J Biol Chem (2002) 1.90
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J Clin Invest (2008) 1.86
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. J Am Coll Cardiol (2003) 1.84
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Dev Med Child Neurol (2011) 1.84
Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease. Circ Res (2007) 1.83
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ Res (2009) 1.83
Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma. J Clin Oncol (2005) 1.82
Caffeine induces apoptosis by enhancement of autophagy via PI3K/Akt/mTOR/p70S6K inhibition. Autophagy (2011) 1.81
Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification. Clin Cancer Res (2010) 1.79
PINK1 is recruited to mitochondria with parkin and associates with LC3 in mitophagy. FEBS Lett (2010) 1.79
Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol (2008) 1.77
MicroRNA-210 regulates cancer cell proliferation through targeting fibroblast growth factor receptor-like 1 (FGFRL1). J Biol Chem (2010) 1.76
Quantification of MYCN, DDX1, and NAG gene copy number in neuroblastoma using a real-time quantitative PCR assay. Mod Pathol (2002) 1.73
arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays. BMC Bioinformatics (2005) 1.71
MicroRNA-141 confers resistance to cisplatin-induced apoptosis by targeting YAP1 in human esophageal squamous cell carcinoma. J Hum Genet (2011) 1.71
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci (2004) 1.69
The Pro-regions of lysyl oxidase and lysyl oxidase-like 1 are required for deposition onto elastic fibers. J Biol Chem (2005) 1.69
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet A (2010) 1.68
Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J (2010) 1.68
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet (2006) 1.68
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics (2009) 1.67
A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. J Clin Invest (2008) 1.67
A multicenter, double-blinded validation study of methylation biomarkers for progression prediction in Barrett's esophagus. Cancer Res (2009) 1.65
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet (2012) 1.62
Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion. Trends Genet (2003) 1.62
Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type. Disabil Rehabil (2010) 1.59
Accumulation of elafin in actinic elastosis of sun-damaged skin: elafin binds to elastin and prevents elastolytic degradation. J Invest Dermatol (2006) 1.59
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet (2008) 1.58
Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol (2004) 1.58
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet (2003) 1.57
Cohen syndrome diagnosis using whole genome arrays. J Med Genet (2010) 1.55
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet (2012) 1.55
Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A (2007) 1.54
Vascular extracellular matrix and aortic development. Curr Top Dev Biol (2004) 1.53
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res (2011) 1.53