Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.

PubWeight™: 1.03‹?› | Rank: Top 15%

🔗 View Article (PMID 11810278)

Published in Hum Genet on November 09, 2001

Authors

B Campos-Xavier1, J M Saraiva, R Savarirayan, A Verloes, J Feingold, L Faivre, A Munnich, M Le Merrer, V Cormier-Daire

Author Affiliations

1: Department of Medical Genetics and INSERM U393, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France.

Articles citing this

TGF-β and BMP signaling in osteoblast differentiation and bone formation. Int J Biol Sci (2012) 3.49

Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand. J Bone Miner Res (2011) 1.71

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet (2005) 1.69

BMP signalling in skeletal development, disease and repair. Nat Rev Endocrinol (2016) 0.97

Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. Osteoporos Int (2005) 0.91

TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease. Bone Res (2016) 0.88

A common biosynthetic pathway governs the dimerization and secretion of inhibin and related transforming growth factor beta (TGFbeta) ligands. J Biol Chem (2009) 0.87

The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis. J Korean Med Sci (2009) 0.85

Friend or foe: high bone mineral density on routine bone density scanning, a review of causes and management. Rheumatology (Oxford) (2013) 0.84

Skeletal dysplasias associated with mild myopathy-a clinical and molecular review. J Biomed Biotechnol (2010) 0.80

Skeletal Dysplasia Presenting as a Neuromuscular Disorder - Report of a Family with Camurati-Engelmann Syndrome. Maedica (Buchar) (2015) 0.77

A single nucleotide polymorphism in the TGF-β1 gene (rs1982073 C>T) may contribute to increased risks of bone fracture, osteoporosis, and osteoarthritis: a meta-analysis. Clin Rheumatol (2014) 0.76

Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults. BMC Med Genet (2004) 0.76

Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. Sci Rep (2017) 0.75

The Good the Bad and the Ugly of Glycosaminoglycans in Tissue Engineering Applications. Pharmaceuticals (Basel) (2017) 0.75

Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report. Medicine (Baltimore) (2017) 0.75

Articles by these authors

Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging. Mamm Genome (1999) 9.96

Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08

Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta (1994) 4.93

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet (1997) 4.26

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet (2001) 4.15

Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet (1999) 3.93

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet (2001) 3.86

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature (2000) 3.61

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996) 3.51

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50

Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet (1997) 3.37

Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet (1990) 3.12

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet (1995) 3.09

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet (1989) 2.98

Association between the tryptophan hydroxylase gene and manic-depressive illness. Arch Gen Psychiatry (1998) 2.55

Mutant WD-repeat protein in triple-A syndrome. Nat Genet (2000) 2.54

Leber congenital amaurosis. Mol Genet Metab (1999) 2.52

Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births. Am J Med Genet (1994) 2.40

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet (2009) 2.37

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet (1998) 2.30

Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet (1996) 2.29

Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet (1990) 2.26

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet (2003) 2.26

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet (2005) 2.24

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet (1999) 2.23

Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int (2000) 2.20

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet (1999) 2.18

Structure and organization of the human survival motor neurone (SMN) gene. Genomics (1996) 2.12

MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12

Congenital lumbosacral lipomas. Childs Nerv Syst (1997) 2.11

Mutation spectrum and splicing variants in the OPA1 gene. Hum Genet (2001) 2.09

Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral Dis (2003) 2.06

The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol (1998) 2.04

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet (1996) 2.01

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J Med Genet (2005) 2.00

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet (2001) 2.00

A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet (2000) 2.00

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet (1998) 1.97

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet (1994) 1.97

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis. Prenat Diagn (2001) 1.95

Unidirectional replication in Escherichia coli of three small plasmids derived from R factor R12. Plasmid (1977) 1.91

Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet (1995) 1.88

Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet (2007) 1.86

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology (2005) 1.85

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet (2001) 1.84

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet (2002) 1.84

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol (2000) 1.82

FGFR2 mutations in Pfeiffer syndrome. Nat Genet (1995) 1.82

Temsirolimus safety profile and management of toxic effects in patients with advanced renal cell carcinoma and poor prognostic features. Ann Oncol (2008) 1.82

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet (2005) 1.80

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet (2006) 1.80

Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes. Eur Heart J (1998) 1.79

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet (1993) 1.79

Genome screen for asthma and related phenotypes in the French EGEA study. Am J Respir Crit Care Med (2000) 1.75

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet (2009) 1.74

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) J Clin Invest (2000) 1.72

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet (1998) 1.72

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum Mutat (1992) 1.71

CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics (1989) 1.70

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet (2000) 1.68

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet (1995) 1.68

CHARGE syndrome: report of 47 cases and review. Am J Med Genet (1998) 1.68

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat (2010) 1.67

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet (1988) 1.66

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet (1996) 1.64

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. Hum Mol Genet (2000) 1.62

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet (1998) 1.62

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J Med Genet (2000) 1.62

Sickle-cell disease in Brazzaville, Congo: genetical, hematological, biochemical and clinical aspects. Acta Haematol (1999) 1.60

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet (1993) 1.60

Orthotopic liver transplantation for mitochondrial respiratory chain disorders: a study of 5 children. Transplantation (2001) 1.59

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet (1997) 1.59

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet (1995) 1.59

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. Am J Hum Genet (1989) 1.58

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet (2000) 1.56