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Items: 16

1.

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H, Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N, Teeninga N, Nauta J, Shalaby M, Eldesoky S, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Adeyemo A, Kristiansen M, Gbadegesin R, Webb NJ, Gale DP, Stanescu HC, Kleta R, Bockenhauer D.

J Am Soc Nephrol. 2019 Jul 1. pii: ASN.2018101054. doi: 10.1681/ASN.2018101054. [Epub ahead of print]

PMID:
31263063
2.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R.

J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.

3.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3.

4.

Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.

Assmann N, Dettmer K, Simbuerger JMB, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J.

Cell Rep. 2016 May 17;15(7):1423-1429. doi: 10.1016/j.celrep.2016.04.037. Epub 2016 May 5.

5.

Renal Fanconi syndrome: taking a proximal look at the nephron.

Klootwijk ED, Reichold M, Unwin RJ, Kleta R, Warth R, Bockenhauer D.

Nephrol Dial Transplant. 2015 Sep;30(9):1456-60. doi: 10.1093/ndt/gfu377. Epub 2014 Dec 9. Review.

PMID:
25492894
6.

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R.

N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581.

7.

A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis.

Nadarajah L, Khosravi M, Dumitriu S, Klootwijk E, Kleta R, Yaqoob MM, Walsh SB.

Lancet. 2014 Jan 4;383(9911):98. doi: 10.1016/S0140-6736(13)62673-2. No abstract available.

PMID:
24388313
8.

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.

Parrock S, Hussain S, Issler N, Differ AM, Lench N, Guarino S, Oosterveld MJ, Keijzer-Veen M, Brilstra E, van Wieringen H, Konijnenberg AY, Amin-Rasip S, Dumitriu S, Klootwijk E, Knoers N, Bockenhauer D, Kleta R, Zdebik AA.

Nephron Physiol. 2013;123(3-4):7-14. doi: 10.1159/000356353. Epub 2013 Nov 2.

9.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R.

Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23.

10.

ATP and arterial calcification.

Fish RS, Klootwijk E, Tam FW, Kleta R, Wheeler DC, Unwin RJ, Norman J.

Eur J Clin Invest. 2013 Apr;43(4):405-12. doi: 10.1111/eci.12055. Epub 2013 Feb 10. Review.

PMID:
23398250
11.

The Gne M712T mouse as a model for human glomerulopathy.

Kakani S, Yardeni T, Poling J, Ciccone C, Niethamer T, Klootwijk ED, Manoli I, Darvish D, Hoogstraten-Miller S, Zerfas P, Tian E, Ten Hagen KG, Kopp JB, Gahl WA, Huizing M.

Am J Pathol. 2012 Apr;180(4):1431-40. doi: 10.1016/j.ajpath.2011.12.023. Epub 2012 Feb 7.

12.

Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?

Kleta R, Klootwijk E, Stanescu H, Bockenhauer D.

Nephrol Dial Transplant. 2011 Sep;26(9):2743-5. doi: 10.1093/ndt/gfr437. Review. No abstract available.

PMID:
21926407
13.

Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations.

Marks SD, Gullett AM, Brennan E, Tullus K, Jaureguiberry G, Klootwijk E, Stanescu HC, Kleta R, Woolf AS.

Pediatr Nephrol. 2011 Oct;26(10):1857-61. doi: 10.1007/s00467-011-1891-0. Epub 2011 May 8.

PMID:
21553326
14.

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.

Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y.

Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16.

15.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R.

N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.

16.

The influence of Rauscher leukemia virus (R-MuLV) on the differentiation of red blood cells in BALB/c mice.

de Both NJ, Klootwijk E, Verhoef NJ, Schalekamp M, Harrison PR, Stoof TJ.

Leuk Res. 1979;3(4):227-38. No abstract available.

PMID:
533992

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