B. Keyser

发表

Coupling Metastasis to pH-Sensing GPR68 Using a Novel Small Molecule Inhibitor

Charles H. Williams, J. Perry, Q. Wells, 2019, bioRxiv.

A simple clinical model to estimate the probability of Marfan syndrome.

S. Blankenberg, J. Schmidtke, B. Keyser, 2012, QJM : monthly journal of the Association of Physicians.

Total Serum Transforming Growth Factor‐β1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes

P. Robinson, S. Blankenberg, T. Zeller, 2014, Clinical cardiology.

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.

M. Bonin, B. Keyser, M. Stuhrmann, 2013, Molecular and cellular probes.

Overexpression of Gremlin-1 in Patients with Loeys-Dietz Syndrome: Implications on Pathophysiology and Early Disease Detection

C. Bokemeyer, S. Balabanov, W. Fiedler, 2014, PloS one.

Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

S. Blankenberg, K. Kutsche, B. Keyser, 2014, Clinical genetics.

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

S. Blankenberg, C. Detter, J. Schmidtke, 2012, Clinical genetics.

TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome

B. Keyser, K. Singh, J. Schmidtke, 2012, Journal of Negative Results in BioMedicine.

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

B. Keyser, E. Christensen, A. Dickmanns, 2008, Human molecular genetics.

3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3

G. Burckhardt, H. Koepsell, M. Glatzel, 2007, Journal of Molecular Medicine.

Herpes Simplex Virus Immediate-Early Protein ICP0 Is Targeted by SIAH-1 for Proteasomal Degradation (cid:1) † (cid:1)

J. Hauber, T. Hofmann, B. Keyser, 2011 .

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

P. Robinson, E. Arbustini, G. Jondeau, 2015, European Journal of Human Genetics.

Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells*

B. Keyser, T. Braulke, C. Mühlhausen, 2011, The Journal of Biological Chemistry.

Membrane translocation of glutaric acid and its derivatives

G. Burckhardt, B. Keyser, Z. Lukacs, 2008, Journal of Inherited Metabolic Disease.

Herpes Simplex Virus Immediate-Early Protein ICP0 Is Targeted by SIAH-1 for Proteasomal Degradation

J. Hauber, T. Hofmann, B. Keyser, 2011, Journal of Virology.

Dural ectasia in individuals with Marfan‐like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2

T. Meinertz, B. Keyser, J. Berger, 2011, Clinical genetics.

Dural ectasia in Loeys–Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

S. Blankenberg, K. Kutsche, B. Keyser, 2014, Clinical genetics.

The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome

P. Robinson, S. Blankenberg, J. Schmidtke, 2014, Orphanet Journal of Rare Diseases.

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy

B. Brenner, C. D. dos Remedios, B. Keyser, 2017, Journal of Muscle Research and Cell Motility.

Blood-based microRNA signatures differentiate various forms of cardiac hypertrophy.

U. Bavendiek, J. Bauersachs, B. Keyser, 2015, International journal of cardiology.

Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy

B. Brenner, C. D. dos Remedios, B. Keyser, 2018, Front. Physiol..

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.

M. Glatzel, B. Keyser, Z. Lukacs, 2008, Biochimica et biophysica acta.

Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by FBN1 Mutations

P. Robinson, S. Blankenberg, C. Detter, 2013, PloS one.

FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression.

P. Robinson, C. Detter, B. Hoffmann, 2013, International Journal of Cardiology.

A Novel GJC2 Mutation Associated with Hypomyelination and Müllerian Agenesis Syndrome: Coincidence or a New Entity?

D. Steinemann, C. Yalçınkaya, E. Sistermans, 2012, Neuropediatrics.

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy

B. Brenner, C. D. dos Remedios, B. Keyser, 2017, Journal of Muscle Research and Cell Motility.

Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse☆

S. Blankenberg, K. Kutsche, B. Keyser, 2016, International journal of cardiology. Heart & vasculature.