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AG Beck
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AG Beck

 

Leiter

Dr. med. Bodo Beck

Institut für Humangenetik
Kerpener Str. 34
50931 Köln
Telefon: +49 221 478-86824

Telefax: +49 221 478-86812

 

Mitarbeiterinnen und Mitarbeiter

 

Forschungsschwerpunkte

  1. Metabolische und genetische Formen der Urolithiasis und Nephrocalcinose, insbesondere Steinerkrankungen die mit einem hohen Risiko für eine Niereninsuffizienz assoziiert sind
  2. Genetik des Steroidresistenten Nephrotischen Syndroms (SRNS; FSGS; DMS; rekurrierende Formen der FSGS)
  3. Molekulare Diagnostik und Pathomechanismen langsam progredienter tubulointerstitieller Nierenerkrankungen vom MCKD/FJHN-Typ (Medullary Cystic Kidney Disease bzw. Familiäre Juvenile Hyperurikämische Nephropathien)
  4. Seltene metabolische/erbliche Erkrankungen die mit einem hohen Risiko für eine Niereninsuffizienz verbunden sind.

 

Publikationen der letzten 5 Jahre

2017

Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M.
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Pediatr Nephrol. 2016.

PubMed PMID: 27289364

Erger F, Brüchle NO, Gembruch U, Zerres K.
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
Arch Gynecol Obstet. 2017.

PubMed PMID: 28283827

Hackl A, Ehren R, Kirschfink M, Zipfel PF, Beck BB, Weber LT, Habbig S.
Successful discontinuation of eculizumab under immunosuppressive therapy in DEAP-HUS.
Pediatr Nephrol. 2017. 

PubMed PMID: 28220235

Hackl A, Mehler K, Gottschalk I, Vierzig A, Eydam M, Hauke J, Beck BB, Liebau MC, Ensenauer R, Weber LT, Habbig S.
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.
Pediatr Nephrol. 2017. 

PubMed PMID: 28083701

2016

Taylan C, Goebel H, Beck BB, Dötsch J, Nuesken KD, Hoppe B, Weber LT, Liebau MC. Quiz Page December 2016: Anuria on the Second Day Following Kidney Transplantation. Am J Kidney Dis. 2016;68(6):A18-A21.

PubMed PMID: 27884282

Nie M, Bal MS, Yang Z, Liu J, Rivera C, Wenzel A, Beck BB, Sakhaee K, Marciano DK, Wolf MT.
Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients.
J Am Soc Nephrol. 2016 Apr 1. pii: ASN.2015101100. [Epub ahead of print]

PubMed PMID: 27036738

Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M.
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.

PubMed PMID: 27120771

Büscher AK, Beck BB, Melk A, Hoefele J, Kranz B, Bamborschke D, Baig S, Lange-Sperandio B, Jungraithmayr T, Weber LT, Kemper MJ, Tönshoff B, Hoyer PF, Konrad M, Weber S; German Pediatric Nephrology Association (GPN).
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
Clin J Am Soc Nephrol. 2016;11(2):245-53.

PubMed PMID: 26668027

Bartram MP, Habbig S, Pahmeyer C, Höhne M, Weber LT, Thiele H, Altmüller J, Kottoor N, Wenzel A, Krueger M, Schermer B, Benzing T, Rinschen MM, Beck BB.
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
Hum Mol Genet. 2016;25(6):1152-64.

PubMed PMID: 26740551

Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int. 2015. 

PubMed PMID: 26489029

Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M.
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Pediatr Nephrol. 2016.

PubMedID: 27289364

2015

Koenig JC, Rutsch F, Bockmeyer C, Baumgartner M, Beck BB, Kranz B, Konrad M.
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.
PediatrNephrol. 2015;30(7):1203-6.

PubMed PMID: 25894566

Lagies R, Beck BB, Hoppe B, Sheta SS, Weiß V, Sreeram N, Udink Ten Cate FE.
Inhomogeneous Longitudinal Cardiac Rotation and Impaired Left Ventricular Longitudinal Strain in Children and Young Adults with End-Stage Renal Failure Undergoing Hemodialysis.
Echocardiography. 2015;32(8):1250-60.

PubMed PMID: 25441704

Beck B, Weber S.

Heutiger Stellenwert der Genetik in der Nephrologie. Beiträge und Perspektiven aus der pädiatrischen Nephrologie.

Jobst-Schwan T, Pannes A, Schlingmann KP, Eckardt KU, Beck BB, Wiesener MS.
Discordant Clinical Course of Vitamin-D-Hydroylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
Kidney Blood Press Res 2015;40:443-451

PubMed PMID: 26304832

Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group*, Hildebrandt F.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol. 2015;26(6):1279-89.

PubMed PMID: 25349199

2014

Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS.
Renal fibrosis is the common feature of Autosomal Dominant Tubulointerstitial Kidney Diseases caused by mutations in mucin 1 or uromodulin.
Kidney Int. 2014 Sep;86(3):589-99

PubMed PMID: 24670410

Beck BB, Phlipps JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Herdergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fray AM, Westerfiled M, Wofrum U, Bolz HJ.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Hum Mutat 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11.

PubMed PMID: 25044745

Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G.
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
Kidney Int. 2014 Dec;86(6):1197-204

PubMed PMID: 24988064

Arjona FJ, de Baaij, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG.
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
PloS Genet 2014 Apr 3;10(4):e1004267

PubMed PMID: 24699222

Ekici AB, Hackenbeck T, Moriniere V, Pannes A, Buettner M, Janka R, Uebe S, Wiesener A, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener M.
The unifying feature of Autosomal Dominant Tubulointerstitial Kidney Diseases (ADTKD) is early tubulointerstitial fibrosis, which is predominantly caused by MUC1 or UMOD mutations.
Kidney Int. 2014 Mar 26. doi: 10.1038/ki.2014.72.

PubMed PMID: 24670410

Hoyer-Kuhn H, Hero B; Franklin J; Kohbrock S, Beck BB*, Hoppe B*
Vitamin B6 in primary hyperoxaluria I – first prospective trial after 40 years of practice.
Clin J Am Soc Nephrol 2014 Mar;9(3):468-77. doi: 10.2215/CJN.06820613. Epub 2014 Jan 2.

PubMed PMID: 24385516

Lagies R, Beck BB, Hoppe B, Sheta SS, Weiß V, Sreeram N, Udink Ten Cate FE.
Inhomogenous Longitudinal Cardiac Rotation and Impaired Left Ventricular Longitudinal Strain in Children and Young Adultsb with End-Stage Renal Failure Undergoing Hemodialysis.
Echocardiography. 2014 Dec 1. doi: 10.1111/echo.12842.

PubMed PMID: 25441704

2013

Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J, Motameny S, Nürnberg G, Nürnberg P, Hahnen E, Beck BB.
A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype.
PLoS One. 2013 Oct 4;8(10):e76414.

PubMed PMID: 24124559

Jacob DE, Grohe B, Geßner M, Beck BB, Hoppe B.
Kidney stones in primary hyperoxaluria: new lessons learnt.
PLoS One. 2013 Aug 5;8(8):e70617.

PubMed PMID: 23940605

Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F.
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPasesignaling.
J Clin Invest. 2013 Aug 1;123(8):3243-53.

PubMed PMID: 23867502

Lagies R, Beck BB, Hoppe B, Sreeram N, Ten Cate FE.
Apical sparing of longitudinal strain, left ventricular rotational abnormalities, and short-axis dysfunction in primary hyperoxaluria type 1.
Circ Heart Fail. 2013 Jul;6(4):e45-7.

PubMed PMID: 23861508

Beck BB, Hoyer-Kuhn H, Goebel H, Habbig S, Hoppe B.
Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions.
Expert Opin 2013;22(1):117-29.

PubMed PMID: 23167815

Beck BB, Baasner A, Büscher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Sathl M. Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf Mt, Nürnberg G, Yigit G, Salido EC, Hoppe.
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Eur J Hum Genet 2013;21(2):162-72.

PubMed PMID:

2012

Gross O, Licht C, Anders HJ, Hoppe B, Beck B, Tönshoff B, Höcker B, Wygoda S, Ehrich JH, Pape L, Konrad M, Rascher W, Dötsch J, Müller-Wiefel DE, Hoyer P; and Study Group Members of the GesellschaftfürPädiatrischeNephrologie (GPN), Knebelmann B, Pirson Y, Grunfeld JP, Niaudet P, Cochat P, Heidet L, Lebbah S, Torra R, Friede T, Lange K, Müller GA, Weber M.
Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.
Kidney Int. 2012;81(5):494-501.

PubMed PMID: 22166847

Teschner S, Stippel D, Grunenberg R, Beck B, Wahba R, Gathof B, Benzing T, Burst V.
ABO –incompatible kidney transplantation using regenerative selective immunglobuline adsorption.
J ClinApher 2012;27(2):51-60.

PubMed PMID:

Beck BB, Habbig S, Dittrich K, Stippel D, Kaul I, Koerber F, Goebel H, Salido EC, Kemper M, Meyburg J, Hoppe B.
Liver cell transplantationin severe infantile oxalosis- a potential bridging procedure to orthotopic liver transplantation.
Nephrol Dial Transplant 2012;27(7):2984-89.

PubMed PMID: 22287658

Hueppelshaeuser R, von Unruh GE, Habbig S; Beck BB, Buderus S, Hesse A, Hoppe B.
Enteric hyperoxaluria, recurrent urolithiasis, and systemic oxalosis in patients with Crohn’s disease.
PediatrNephrol 2012;27(7):1103-9.

PubMed PMID: 22366809

2011

Habbig S, Beck BB, Hoppe B.
Nephrocalcinosis and urolithiasis in children.
Kidney Int. 2011;80(12):1278-91.

PubMed PMID: 21956187

Schorn R, Beck BB, Cohen CD, Wüthrich RP, Mohebbi N.
Rezidivierende Urolithiasis mit progredienter Niereninsuffizienz.
Der Nephrologe 2011 (3): 270-271.

PubMed PMID:

Mehler K*, Beck BB*, Kaul I, Rahimi G, Hoppe B, Kribs A.
Respiratory and general outcome in neonates with renal oligohydramnion- a single centre experience.
Nephrol Dial Transplant 2011 (11):3514-22.

PubMed PMID: 21389070

Hoppe B, Dittlich K, Fehrenback H, Plum G, Beck BB.
Reduction of plasma oxalate levels by oral application of Oxalaobacterformigenes in 2 patients with infantile oxalosis.
Am J Kidney Dis 2011 Sep 58(3): 453-455.

PubMed PMID: 21705122

Beck BB, Trachtman H, Gitman, M, Miller I, Sayer JA, Pannes A, Baasner A,Hildebrandt F, Wolf MT. A
Tryptophan to Arginine Substitution in the Signal Peptide of Renin in a Kindred with an Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia and CKD.
Am J Kidney Dis 2011;58(5):821-5.

PubMed PMID: 21903317