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Adrenomedullin – new perspectives of a potent peptide hormone

Journal of peptide science, 2017-07, Vol.23 (7-8), p.472-485

2017

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Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting

Nutrients, 2023-04, Vol.15 (9), p.2081

2023

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Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Genetics in medicine, 2020-08, Vol.22 (8), p.1374-1383

2020

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Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery

Scientific reports, 2023-06, Vol.13 (1), p.9029-9029, Article 9029

2023

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Adrenomedullin 2.0: Adjusting Key Levers for Metabolic Stability

Journal of medicinal chemistry, 2016-06, Vol.59 (12), p.5695-5705

2016

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Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

Frontiers in genetics, 2021-06, Vol.12, p.682565-682565

2021

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Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

Kidney international, 2020-10, Vol.98 (4), p.958-969

2020

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Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany

Frontiers in pediatrics, 2018-03, Vol.6, p.47-47

2018

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Development of Potent and Metabolically Stable APJ Ligands with High Therapeutic Potential

ChemMedChem, 2016-11, Vol.11 (21), p.2378-2384

2016

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Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome

Frontiers in genetics, 2019-05, Vol.10, p.465-465

2019

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Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis

JHEP reports, 2022-11, Vol.4 (11), p.100579-100579, Article 100579

2022

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Novel Mutations in the Asparagine Synthetase Gene ( ASNS ) Associated With Microcephaly

Frontiers in genetics, 2018-07, Vol.9, p.245-245

2018

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Fluorescently labeled adrenomedullin allows real‐time monitoring of adrenomedullin receptor trafficking in living cells

Journal of peptide science, 2015-12, Vol.21 (12), p.905-912

2015

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Fluorescently labeled adrenomedullin allows real-time monitoring of adrenomedullin receptor trafficking in living cells

Journal of peptide science, 2015-12, Vol.21 (12), p.905-912

2015

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The genetics of cystinuria - an update and critical reevaluation

Current opinion in nephrology and hypertension, 2024-03, Vol.33 (2), p.231

2024

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Cover Picture: Development of Potent and Metabolically Stable APJ Ligands with High Therapeutic Potential (ChemMedChem 21/2016)

ChemMedChem, 2016-11, Vol.11 (21), p.2362-2362

2016

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Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia

Clinical kidney journal, 2022-07, Vol.15 (7), p.1333-1339

2022

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P0071MOLECULAR ALTERATIONS AND THE SEARCH FOR GENETIC MODIFIERS IN BRANCHIOOTORENAL SYNDROME

Nephrology, dialysis, transplantation, 2020-06, Vol.35 (Supplement_3)

2020

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Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly

Genes & diseases, 2022-09, Vol.9 (5), p.1301-1314

2022

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Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

American journal of human genetics, 2023-06, Vol.110 (6), p.998-1007

2023

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Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease

Kidney international, 2019-07, Vol.96 (1), p.222-230

2019

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MO049FUNCTIONAL IMPORTANCE OF MAPKBP1 PROTEIN DOMAINS IN NEPHRONOPHTHISIS

Nephrology, dialysis, transplantation, 2021-05, Vol.36 (Supplement_1)

2021

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FC 014INFLUENCE OF GENETIC VARIATION IN SLC7A13 /AGT1 IN HUMAN CYSTINURIA

Nephrology, dialysis, transplantation, 2021-05, Vol.36 (Supplement_1)

2021

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5496 EVALUATION OF THE PREDICTIVE ABILITY AND CONCORDANCE OF PROGNOSTIC SCORES FOR RAPID PROGRESSION IN ADPKD: A MULTICENTER COHORT

Nephrology, dialysis, transplantation, 2023-06, Vol.38 (Supplement_1)

2023

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KidneyNetwork Uses Kidney-Derived Gene Expression Data to Predict and Prioritize Novel Genes Involved in Kidney Disease: PO1200

Journal of the American Society of Nephrology, 2021-10, Vol.32 (10S), p.391-391

2021

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Adrenomedullin – new perspectives of a potent peptide hormone

Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery

Adrenomedullin 2.0: Adjusting Key Levers for Metabolic Stability

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany

Development of Potent and Metabolically Stable APJ Ligands with High Therapeutic Potential

Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis

Novel Mutations in the Asparagine Synthetase Gene ( ASNS ) Associated With Microcephaly

Fluorescently labeled adrenomedullin allows real‐time monitoring of adrenomedullin receptor trafficking in living cells

Fluorescently labeled adrenomedullin allows real-time monitoring of adrenomedullin receptor trafficking in living cells

The genetics of cystinuria - an update and critical reevaluation

Cover Picture: Development of Potent and Metabolically Stable APJ Ligands with High Therapeutic Potential (ChemMedChem 21/2016)

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia

P0071MOLECULAR ALTERATIONS AND THE SEARCH FOR GENETIC MODIFIERS IN BRANCHIOOTORENAL SYNDROME

Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease

MO049FUNCTIONAL IMPORTANCE OF MAPKBP1 PROTEIN DOMAINS IN NEPHRONOPHTHISIS

FC 014INFLUENCE OF GENETIC VARIATION IN SLC7A13 /AGT1 IN HUMAN CYSTINURIA

5496 EVALUATION OF THE PREDICTIVE ABILITY AND CONCORDANCE OF PROGNOSTIC SCORES FOR RAPID PROGRESSION IN ADPKD: A MULTICENTER COHORT

KidneyNetwork Uses Kidney-Derived Gene Expression Data to Predict and Prioritize Novel Genes Involved in Kidney Disease: PO1200

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