List of works - Claus E Ott

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

scientific article published on 4 January 2008

A novel mutation in CDH11 , encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

scientific article published on 08 September 2018

BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation.

scientific article published on 8 December 2017

Biaxial cell stimulation: A mechanical validation.

scientific article

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

scientific article

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

scientific article

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

scientific article

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

scientific article published in August 2010

Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes

article

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

scientific article

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

scientific article published on 26 March 2009

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

scientific article published on 22 October 2020

Evaluation of the role of STAP1 in Familial Hypercholesterolemia

scientific article published on 19 August 2019

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

scientific article published on 21 March 2018

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

scientific article published on 24 December 2014

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites

scientific article

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia

scientific article

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

Quantification and significance of fluid shear stress field in biaxial cell stretching device

scientific article published on 18 September 2010

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

scientific article published on 21 May 2014

The Interaction of BMP2-Induced Defect Healing in Rat and Fixator Stiffness Modulates Matrix Alignment and Contraction

scientific article published on 17 April 2018

The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta.

scientific article

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.

scientific article published on 10 April 2018

miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules.

scientific article published on 20 December 2012

List of works by Claus E Ott

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

A novel mutation in CDH11 , encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation.

Biaxial cell stimulation: A mechanical validation.

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

Evaluation of the role of STAP1 in Familial Hypercholesterolemia

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia

PEDIA: prioritization of exome data by image analysis

Quantification and significance of fluid shear stress field in biaxial cell stretching device

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

The Interaction of BMP2-Induced Defect Healing in Rat and Fixator Stiffness Modulates Matrix Alignment and Contraction

The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta.

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.

miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules.