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Items: 1 to 50 of 76

1.

Proteome Analysis of Isolated Podocytes Reveals Stress Responses in Glomerular Sclerosis.

Koehler S, Kuczkowski A, Kuehne L, Jüngst C, Hoehne M, Grahammer F, Eddy S, Kretzler M, Beck BB, Höhfeld J, Schermer B, Benzing T, Brinkkoetter PT, Rinschen MM.

J Am Soc Nephrol. 2020 Feb 11. pii: ASN.2019030312. doi: 10.1681/ASN.2019030312. [Epub ahead of print]

PMID:
32047005
2.

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.

Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J.

Hum Mutat. 2020 Mar;41(3):591-599. doi: 10.1002/humu.23964. Epub 2019 Dec 24.

PMID:
31821646
3.

Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.

Martinez-Turrillas R, Rodriguez-Diaz S, Rodriguez-Marquez P, Martin-Mallo A, Salido E, Beck BB, Prosper F, Rodriguez-Madoz JR.

Stem Cell Res. 2019 Dec;41:101626. doi: 10.1016/j.scr.2019.101626. Epub 2019 Oct 18.

4.

Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.

Garrelfs SF, Rumsby G, Peters-Sengers H, Erger F, Groothoff JW, Beck BB, Oosterveld MJS, Pelle A, Neuhaus T, Adams B, Cochat P, Salido E, Lipkin GW, Hoppe B, Hulton SA; OxalEurope Consortium.

Kidney Int. 2019 Dec;96(6):1389-1399. doi: 10.1016/j.kint.2019.08.018. Epub 2019 Sep 3.

5.

Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study.

Lagies R, Udink Ten Cate FEA, Feldkötter M, Beck BB, Sreeram N, Hoppe B, Herberg U.

Pediatr Nephrol. 2019 Dec;34(12):2591-2600. doi: 10.1007/s00467-019-04330-7. Epub 2019 Aug 22.

PMID:
31440827
6.

HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.

Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S.

Pediatr Nephrol. 2019 Jun;34(6):1065-1075. doi: 10.1007/s00467-018-4188-8. Epub 2019 Jan 21.

PMID:
30666461
7.

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.

Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F.

Am J Hum Genet. 2019 Jan 3;104(1):45-54. doi: 10.1016/j.ajhg.2018.11.003.

8.

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M.

Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.

9.

Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.

Knaup KX, Hackenbeck T, Popp B, Stoeckert J, Wenzel A, Büttner-Herold M, Pfister F, Schueler M, Seven D, May AM, Halbritter J, Gröne HJ, Reis A, Beck BB, Amann K, Ekici AB, Wiesener MS.

J Am Soc Nephrol. 2018 Sep;29(9):2298-2309. doi: 10.1681/ASN.2018030245. Epub 2018 Jul 26.

10.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S.

J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2.

11.

A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant.

Arthuis CJ, Nizon M, Kömhoff M, Beck BB, Riehmer V, Bihouée T, Bruel A, Benbrik N, Winer N, Isidor B.

J Obstet Gynaecol. 2019 Apr;39(3):395-397. doi: 10.1080/01443615.2018.1454415. Epub 2018 Jun 12. No abstract available.

PMID:
29893154
12.

Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.

Belostotsky R, Lyakhovetsky R, Sherman MY, Shkedy F, Tzvi-Behr S, Bar R, Hoppe B, Reusch B, Beck BB, Frishberg Y.

J Mol Med (Berl). 2018 Jul;96(7):621-630. doi: 10.1007/s00109-018-1651-8. Epub 2018 May 18.

PMID:
29777253
13.

Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III.

Ventzke A, Feldkötter M, Wei A, Becker J, Beck BB, Hoppe B.

Pediatr Nephrol. 2018 Jul;33(7):1275-1276. doi: 10.1007/s00467-018-3944-0.

PMID:
29637271
14.

Single-nephron proteomes connect morphology and function in proteinuric kidney disease.

Höhne M, Frese CK, Grahammer F, Dafinger C, Ciarimboli G, Butt L, Binz J, Hackl MJ, Rahmatollahi M, Kann M, Schneider S, Altintas MM, Schermer B, Reinheckel T, Göbel H, Reiser J, Huber TB, Kramann R, Seeger-Nukpezah T, Liebau MC, Beck BB, Benzing T, Beyer A, Rinschen MM.

Kidney Int. 2018 Jun;93(6):1308-1319. doi: 10.1016/j.kint.2017.12.012. Epub 2018 Mar 9.

PMID:
29530281
15.

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.

Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, Staubach S, Salido E, Nuernberg P, Reinhardt R, Reis A, Rump P, Hanisch FG, Wolf MTF, Wiesener M, Huettel B, Beck BB.

Sci Rep. 2018 Mar 8;8(1):4170. doi: 10.1038/s41598-018-22428-0.

16.

Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells.

Staubach S, Wenzel A, Beck BB, Rinschen MM, Müller S, Hanisch FG.

Proteomics. 2018 Apr;18(7):e1700456. doi: 10.1002/pmic.201700456. Epub 2018 Mar 13.

PMID:
29436780
17.

Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.

Ventzke A, Feldkötter M, Wei A, Becker J, Beck BB, Hoppe B.

Pediatr Nephrol. 2017 Dec;32(12):2263-2271. doi: 10.1007/s00467-017-3731-3. Epub 2017 Jul 15. Erratum in: Pediatr Nephrol. 2018 Apr 10;:.

PMID:
28711958
18.

A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.

Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.

Am J Med Genet A. 2017 Aug;173(8):2132-2138. doi: 10.1002/ajmg.a.38285. Epub 2017 Jun 2.

PMID:
28574232
19.

A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome
.

Ebner K, Reintjes N, Feldkötter M, Körber F, Nagel M, Dötsch J, Hoppe B, Weber LT, Beck BB, Liebau MC.

Clin Nephrol. 2017 Jul;88(1):45-51. doi: 10.5414/CN109123.

PMID:
28502323
20.

Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.

Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, Göbel H, Franke M, Schermer B, Haneder S, Benzing T, Beck BB, Müller RU.

BMC Med Genet. 2017 May 12;18(1):53. doi: 10.1186/s12881-017-0416-5.

21.

Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.

Ebner K, Dafinger C, Ortiz-Bruechle N, Koerber F, Schermer B, Benzing T, Dötsch J, Zerres K, Weber LT, Beck BB, Liebau MC.

Pediatr Nephrol. 2017 Jul;32(7):1269-1273. doi: 10.1007/s00467-017-3648-x. Epub 2017 Mar 31.

PMID:
28364132
22.

Successful discontinuation of eculizumab under immunosuppressive therapy in DEAP-HUS.

Hackl A, Ehren R, Kirschfink M, Zipfel PF, Beck BB, Weber LT, Habbig S.

Pediatr Nephrol. 2017 Jun;32(6):1081-1087. doi: 10.1007/s00467-017-3612-9. Epub 2017 Feb 20. Review.

PMID:
28220235
23.

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.

Hackl A, Mehler K, Gottschalk I, Vierzig A, Eydam M, Hauke J, Beck BB, Liebau MC, Ensenauer R, Weber LT, Habbig S.

Pediatr Nephrol. 2017 May;32(5):791-800. doi: 10.1007/s00467-016-3556-5. Epub 2017 Jan 12.

PMID:
28083701
24.

Quiz Page December 2016: Anuria on the Second Day Following Kidney Transplantation.

Taylan C, Goebel H, Beck BB, Dötsch J, Nuesken KD, Hoppe B, Weber LT, Liebau MC.

Am J Kidney Dis. 2016 Dec;68(6):A18-A21. doi: 10.1053/j.ajkd.2016.07.035. No abstract available.

PMID:
27884282
25.

Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients.

Nie M, Bal MS, Yang Z, Liu J, Rivera C, Wenzel A, Beck BB, Sakhaee K, Marciano DK, Wolf MT.

J Am Soc Nephrol. 2016 Nov;27(11):3447-3458. Epub 2016 Apr 1.

26.

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.

Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M.

Pediatr Nephrol. 2017 May;32(5):733-741. doi: 10.1007/s00467-016-3399-0. Epub 2016 Jun 11. Review.

27.

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

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.

N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.

28.

Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.

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.

Hum Mol Genet. 2016 Mar 15;25(6):1152-64. doi: 10.1093/hmg/ddv638. Epub 2016 Jan 5.

PMID:
26740551
29.

Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.

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).

Clin J Am Soc Nephrol. 2016 Feb 5;11(2):245-53. doi: 10.2215/CJN.07370715. Epub 2015 Dec 14.

30.

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

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.

Kidney Int. 2016 Feb;89(2):468-475. doi: 10.1038/ki.2015.317.

31.

Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.

Jobst-Schwan T, Pannes A, Schlingmann KP, Eckardt KU, Beck BB, Wiesener MS.

Kidney Blood Press Res. 2015;40(5):443-51. doi: 10.1159/000368520. Epub 2015 Aug 22. Review.

32.

Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.

Koenig JC, Rutsch F, Bockmeyer C, Baumgartner M, Beck BB, Kranz B, Konrad M.

Pediatr Nephrol. 2015 Jul;30(7):1203-6. doi: 10.1007/s00467-015-3110-x. Epub 2015 Apr 18.

PMID:
25894566
33.

Inhomogeneous Longitudinal Cardiac Rotation and Impaired Left Ventricular Longitudinal Strain in Children and Young Adults with End-Stage Renal Failure Undergoing Hemodialysis.

Lagies R, Beck BB, Hoppe B, Sheta SS, Weiß V, Sreeram N, Udink ten Cate FE.

Echocardiography. 2015 Aug;32(8):1250-60. doi: 10.1111/echo.12842. Epub 2014 Dec 1.

PMID:
25441704
34.

Mutation of POC1B in a severe syndromic retinal ciliopathy.

Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott 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, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.

Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11.

35.

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.

Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G; OxalEurope Consortium.

Kidney Int. 2014 Dec;86(6):1197-204. doi: 10.1038/ki.2014.222. Epub 2014 Jul 2.

36.

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

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.

Kidney Int. 2014 Sep;86(3):589-99. doi: 10.1038/ki.2014.72. Epub 2014 Mar 26.

37.

Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice.

Hoyer-Kuhn H, Kohbrok S, Volland R, Franklin J, Hero B, Beck BB, Hoppe B.

Clin J Am Soc Nephrol. 2014 Mar;9(3):468-77. doi: 10.2215/CJN.06820613. Epub 2014 Jan 2.

38.

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

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.

PLoS One. 2013 Oct 4;8(10):e76414. doi: 10.1371/journal.pone.0076414. eCollection 2013.

39.

Kidney stones in primary hyperoxaluria: new lessons learnt.

Jacob DE, Grohe B, Geßner M, Beck BB, Hoppe B.

PLoS One. 2013 Aug 5;8(8):e70617. doi: 10.1371/journal.pone.0070617. Print 2013.

40.

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

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.

J Clin Invest. 2013 Aug;123(8):3243-53. doi: 10.1172/JCI69134. Epub 2013 Jul 8.

41.

Apical sparing of longitudinal strain, left ventricular rotational abnormalities, and short-axis dysfunction in primary hyperoxaluria type 1.

Lagies R, Beck BB, Hoppe B, Sreeram N, Udink Ten Cate FE.

Circ Heart Fail. 2013 Jul;6(4):e45-7. doi: 10.1161/CIRCHEARTFAILURE.113.000432. No abstract available.

PMID:
23861508
42.

Genetic Diversity in Normal Cell Populations is the Earliest Stage of Oncogenesis Leading to Intra-Tumor Heterogeneity.

Howk CL, Voller Z, Beck BB, Dai D.

Front Oncol. 2013 Apr 5;3:61. doi: 10.3389/fonc.2013.00061. eCollection 2013.

43.

Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions.

Beck BB, Hoyer-Kuhn H, Göbel H, Habbig S, Hoppe B.

Expert Opin Investig Drugs. 2013 Jan;22(1):117-29. doi: 10.1517/13543784.2013.741587. Epub 2012 Nov 21. Review.

PMID:
23167815
44.

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B.

Eur J Hum Genet. 2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11.

45.

Enteric hyperoxaluria, recurrent urolithiasis, and systemic oxalosis in patients with Crohn's disease.

Hueppelshaeuser R, von Unruh GE, Habbig S, Beck BB, Buderus S, Hesse A, Hoppe B.

Pediatr Nephrol. 2012 Jul;27(7):1103-9. doi: 10.1007/s00467-012-2126-8. Epub 2012 Feb 25.

PMID:
22366809
46.

Liver cell transplantation in severe infantile oxalosis--a potential bridging procedure to orthotopic liver transplantation?

Beck BB, Habbig S, Dittrich K, Stippel D, Kaul I, Koerber F, Goebel H, Salido EC, Kemper M, Meyburg J, Hoppe B.

Nephrol Dial Transplant. 2012 Jul;27(7):2984-9. doi: 10.1093/ndt/gfr776. Epub 2012 Jan 28.

PMID:
22287658
47.

Nephrocalcinosis and urolithiasis in children.

Habbig S, Beck BB, Hoppe B.

Kidney Int. 2011 Dec;80(12):1278-91. doi: 10.1038/ki.2011.336. Epub 2011 Sep 28. Erratum in: Kidney Int. 2012 Aug;82(4):493-7.

48.

Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.

Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A, Baasner A, Hildebrandt F, Wolf MT.

Am J Kidney Dis. 2011 Nov;58(5):821-5. doi: 10.1053/j.ajkd.2011.06.029. Epub 2011 Sep 8.

49.

Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis.

Hoppe B, Dittlich K, Fehrenbach H, Plum G, Beck BB.

Am J Kidney Dis. 2011 Sep;58(3):453-5. doi: 10.1053/j.ajkd.2011.05.012. Epub 2011 Jun 25.

PMID:
21705122
50.

Respiratory and general outcome in neonates with renal oligohydramnios--a single-centre experience.

Mehler K, Beck BB, Kaul I, Rahimi G, Hoppe B, Kribs A.

Nephrol Dial Transplant. 2011 Nov;26(11):3514-22. doi: 10.1093/ndt/gfr046. Epub 2011 Mar 9.

PMID:
21389070

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