WorldCat Identities

Pauly, Marcus

Works: 6 works in 6 publications in 2 languages and 13 library holdings
Roles: Contributor, Author, Other
Publication Timeline
Most widely held works by Marcus Pauly
Mobilität bei Kindern und Jugendlichen mit Spina bifida by Marcus Pauly( Book )

1 edition published in 2010 in German and held by 4 WorldCat member libraries worldwide

Quality of Life after Surgical Treatment for Esophageal Atresia: Long-Term Outcome of 154 Patients( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Levels of Mobility in Children and Adolescents with Spina Bifida--Clinical Parameters Predicting Mobility and Maintenance of These Skills( )

1 edition published in 2012 in English and held by 2 WorldCat member libraries worldwide

More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation by Soyhan Bagci( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B by Jan Gehlen( )

1 edition published in 2022 in English and held by 1 WorldCat member library worldwide

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene CTNNA3 (p = 2.11 x 10(-8); odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10-5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 x 10(-10); OR = 1.47; 95% CI, 1.38-1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 x 10(-16); OR = 1.75; 95% CI, 1.64-1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% +/- 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes
Audience Level
Audience Level
  General Special  
Audience level: 0.00 (from 0.00 for Mobilität ... to 0.00 for Mobilität ...)

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