Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 43

1.

NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children.

Asharam K, Bhimma R, David VA, Coovadia HM, Qulu WP, Naicker T, Gillies CE, Vega-Warner V, Johnson RC, Limou S, Kopp JB, Sampson M, Nelson GW, Winkler CA.

Kidney Int Rep. 2018 Jul 29;3(6):1354-1362. doi: 10.1016/j.ekir.2018.07.017. eCollection 2018 Nov.

2.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA; Undiagnosed Disease Network Italy.

Eur J Hum Genet. 2018 Sep;26(9):1266-1271. doi: 10.1038/s41431-018-0183-6. Epub 2018 Jun 11.

3.

A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway.

Wang J, Vogt B, Sethi SK, Sampson MG, Vega-Warner V, Otto EA, Raina R.

Kidney Int Rep. 2017 May 17;2(6):1238-1242. doi: 10.1016/j.ekir.2017.05.006. eCollection 2017 Nov. No abstract available.

4.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Dec 7;101(6):1034. doi: 10.1016/j.ajhg.2017.11.003. No abstract available.

5.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Erratum in: Am J Hum Genet. 2017 Dec 7;101(6):1034.

6.

Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Crawford BD, Gillies CE, Robertson CC, Kretzler M, Otto EA, Vega-Warner V, Sampson MG.

Pediatr Nephrol. 2017 Jul;32(7):1285. doi: 10.1007/s00467-017-3653-0. No abstract available.

PMID:
28349212
7.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S.

N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25.

8.

Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Crawford BD, Gillies CE, Robertson CC, Kretzler M, Otto EA, Vega-Warner V, Sampson MG.

Pediatr Nephrol. 2017 Mar;32(3):467-476. doi: 10.1007/s00467-016-3513-3. Epub 2016 Oct 20. Erratum in: Pediatr Nephrol. 2017 Jul;32(7):1285.

9.

A Familial Infantile Renal Failure.

Sethi SK, Wadhwani N, Jha P, Duggal R, Vega-Warner V, Raina R, Bansal SB, Kher V, Sampson MG, Otto EA.

Kidney Int Rep. 2016 Sep 1;2(2):130-133. doi: 10.1016/j.ekir.2016.08.018. eCollection 2017 Mar. No abstract available.

10.

tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.

Gillies CE, Otto EA, Vega-Warner V, Robertson CC, Sanna-Cherchi S, Gharavi A, Crawford B, Bhimma R, Winkler C; Nephrotic Syndrome Study Network (NEPTUNE); C-PROBE InvestigatorGroup of the Michigan Kidney Translational Core Center, Kang HM, Sampson MG.

BMC Bioinformatics. 2016 Jun 10;17(1):233. doi: 10.1186/s12859-016-1108-4.

11.

FAT1 mutations cause a glomerulotubular nephropathy.

Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F.

Nat Commun. 2016 Feb 24;7:10822. doi: 10.1038/ncomms10822.

12.

Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.

Sampson MG, Gillies CE, Robertson CC, Crawford B, Vega-Warner V, Otto EA, Kretzler M, Kang HM.

J Am Soc Nephrol. 2016 Jul;27(7):1970-83. doi: 10.1681/ASN.2015050504. Epub 2015 Nov 3.

13.

Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.

Sampson MG, Robertson CC, Martini S, Mariani LH, Lemley KV, Gillies CE, Otto EA, Kopp JB, Randolph A, Vega-Warner V, Eichinger F, Nair V, Gipson DS, Cattran DC, Johnstone DB, O'Toole JF, Bagnasco SM, Song PX, Barisoni L, Troost JP, Kretzler M, Sedor JR; Nephrotic Syndrome Study Network.

J Am Soc Nephrol. 2016 Mar;27(3):814-23. doi: 10.1681/ASN.2014111131. Epub 2015 Jul 6.

14.

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.

Ma SL, Vega-Warner V, Gillies C, Sampson MG, Kher V, Sethi SK, Otto EA.

PLoS One. 2015 Jun 24;10(6):e0130729. doi: 10.1371/journal.pone.0130729. eCollection 2015.

15.

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.

Montgomery E, Sayer JA, Baines LA, Hynes AM, Vega-Warner V, Johnson S, Goodship JA, Otto EA.

BMC Med Genet. 2015 Jun 4;16:35. doi: 10.1186/s12881-015-0181-2.

16.

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.

Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F.

J Clin Invest. 2015 Jun;125(6):2375-84. doi: 10.1172/JCI79504. Epub 2015 May 11.

17.

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

Ebarasi L, Ashraf S, Bierzynska A, Gee HY, McCarthy HJ, Lovric S, Sadowski CE, Pabst W, Vega-Warner V, Fang H, Koziell A, Simpson MA, Dursun I, Serdaroglu E, Levy S, Saleem MA, Hildebrandt F, Majumdar A.

Am J Hum Genet. 2015 Jan 8;96(1):153-61. doi: 10.1016/j.ajhg.2014.11.014. Epub 2014 Dec 31.

18.

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

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.

J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27.

19.

A boy with proteinuria and focal global glomerulosclerosis: Question and Answers.

Sethi SK, Otto EA, Ma S, Duggal R, Vega-Warner V, Kher V.

Pediatr Nephrol. 2015 Nov;30(11):1945-9. doi: 10.1007/s00467-014-2959-4. Epub 2014 Sep 23. No abstract available.

PMID:
25245502
20.

Mutations in EMP2 cause childhood-onset nephrotic syndrome.

Gee HY, Ashraf S, Wan X, Vega-Warner V, Esteve-Rudd J, Lovric S, Fang H, Hurd TW, Sadowski CE, Allen SJ, Otto EA, Korkmaz E, Washburn J, Levy S, Williams DS, Bakkaloglu SA, Zolotnitskaya A, Ozaltin F, Zhou W, Hildebrandt F.

Am J Hum Genet. 2014 Jun 5;94(6):884-90. doi: 10.1016/j.ajhg.2014.04.010. Epub 2014 May 8.

21.

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

Lovric S, Fang H, Vega-Warner V, Sadowski CE, Gee HY, Halbritter J, Ashraf S, Saisawat P, Soliman NA, Kari JA, Otto EA, Hildebrandt F; Nephrotic Syndrome Study Group.

Clin J Am Soc Nephrol. 2014 Jun 6;9(6):1109-16. doi: 10.2215/CJN.09010813. Epub 2014 Apr 17.

22.

Steroid-resistant nephrotic syndrome: impact of genetic testing.

Kari JA, El-Desoky SM, Gari M, Malik K, Vega-Warner V, Lovric S, Bockenhauer D.

Ann Saudi Med. 2013 Nov-Dec;33(6):533-8. doi: 10.5144/0256-4947.2013.533.

23.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F.

J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25.

24.

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

Gee HY, Otto EA, Hurd TW, Ashraf S, Chaki M, Cluckey A, Vega-Warner V, Saisawat P, Diaz KA, Fang H, Kohl S, Allen SJ, Airik R, Zhou W, Ramaswami G, Janssen S, Fu C, Innis JL, Weber S, Vester U, Davis EE, Katsanis N, Fathy HM, Jeck N, Klaus G, Nayir A, Rahim KA, Al Attrach I, Al Hassoun I, Ozturk S, Drozdz D, Helmchen U, O'Toole JF, Attanasio M, Lewis RA, Nürnberg G, Nürnberg P, Washburn J, MacDonald J, Innis JW, Levy S, Hildebrandt F.

Kidney Int. 2014 Apr;85(4):880-7. doi: 10.1038/ki.2013.450. Epub 2013 Nov 20.

25.

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.

26.
27.

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

Kerti A, Csohány R, Szabó A, Arkossy O, Sallay P, Moriniére V, Vega-Warner V, Nyírő G, Lakatos O, Szabó T, Lipska BS, Schaefer F, Antignac C, Reusz G, Tulassay T, Tory K.

Pediatr Nephrol. 2013 May;28(5):751-7. doi: 10.1007/s00467-012-2379-2. Epub 2012 Dec 14.

PMID:
23242530
28.

Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.

Ovunc B, Ashraf S, Vega-Warner V, Bockenhauer D, Elshakhs NA, Joseph M, Hildebrandt F; Gesellschaft für Pädiatrische Nephrologie (GPN) Study Group.

Nephron Clin Pract. 2012;120(3):c139-46. doi: 10.1159/000337379. Epub 2012 May 11.

29.

Integrin α3 mutations with kidney, lung, and skin disease.

Has C, Spartà G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, Waters A, He Y, Anikster Y, Esser P, Straub BK, Hausser I, Bockenhauer D, Dekel B, Hildebrandt F, Bruckner-Tuderman L, Laube GF.

N Engl J Med. 2012 Apr 19;366(16):1508-14. doi: 10.1056/NEJMoa1110813.

30.

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.

Ovunc B, Otto EA, Vega-Warner V, Saisawat P, Ashraf S, Ramaswami G, Fathy HM, Schoeb D, Chernin G, Lyons RH, Yilmaz E, Hildebrandt F.

J Am Soc Nephrol. 2011 Oct;22(10):1815-20. doi: 10.1681/ASN.2011040337. Epub 2011 Sep 8.

31.

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Saisawat P, Tasic V, Vega-Warner V, Kehinde EO, Günther B, Airik R, Innis JW, Hoskins BE, Hoefele J, Otto EA, Hildebrandt F.

Kidney Int. 2012 Jan;81(2):196-200. doi: 10.1038/ki.2011.315. Epub 2011 Sep 7.

32.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F.

J Clin Invest. 2011 May;121(5):2013-24. doi: 10.1172/JCI45693. Epub 2011 Apr 11.

33.

Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation.

Baskin E, Selda Bayrakci U, Alehan F, Ozdemir H, Oner A, Horvath R, Vega-Warner V, Hildebrandt F, Ozaltin F.

Pediatr Nephrol. 2011 Jul;26(7):1157-61. doi: 10.1007/s00467-011-1814-0. Epub 2011 Mar 2.

34.

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.

Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, Cleper R, Ozaltin F, Hildebrandt F; Members of the GPN Study Group.

Clin J Am Soc Nephrol. 2010 Sep;5(9):1655-62. doi: 10.2215/CJN.09351209. Epub 2010 Jul 1.

35.

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F; Gesselschaft für Paediatrische Nephrologie (GPN) Study Group.

Nephrol Dial Transplant. 2010 Sep;25(9):2970-6. doi: 10.1093/ndt/gfq088. Epub 2010 Feb 18.

36.

Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.

Chernin G, Heeringa SF, Vega-Warner V, Schoeb DS, Nürnberg P, Hildebrandt F.

Pediatr Nephrol. 2010 Feb;25(2):261-6. doi: 10.1007/s00467-009-1315-6. Epub 2009 Oct 30.

37.

A systematic approach to mapping recessive disease genes in individuals from outbred populations.

Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Schoeb DS, Ovunc B, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA.

PLoS Genet. 2009 Jan;5(1):e1000353. doi: 10.1371/journal.pgen.1000353. Epub 2009 Jan 23.

38.

Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.

Chernin G, Heeringa SF, Gbadegesin R, Liu J, Hinkes BG, Vlangos CN, Vega-Warner V, Hildebrandt F.

Pediatr Nephrol. 2008 Sep;23(9):1455-60. doi: 10.1007/s00467-008-0861-7. Epub 2008 Jun 10.

39.

Differential proteomic analysis of proteins induced by glucocorticoids in cultured murine podocytes.

Ransom RF, Vega-Warner V, Smoyer WE, Klein J.

Kidney Int. 2005 Apr;67(4):1275-85.

40.

Induction of antioxidant enzymes in murine podocytes precedes injury by puromycin aminonucleoside.

Vega-Warner V, Ransom RF, Vincent AM, Brosius FC, Smoyer WE.

Kidney Int. 2004 Nov;66(5):1881-9.

41.

Heat-induced gelation of chicken Pectoralis major myosin and beta-lactoglobulin.

Vittayanont M, Vega-Warner V, Steffe JF, Smith DM.

J Agric Food Chem. 2001 Mar;49(3):1587-94.

PMID:
11312900
42.

Denaturation and aggregation of myosin from two bovine muscle types.

Vega-Warner V, Smith DM.

J Agric Food Chem. 2001 Feb;49(2):906-12.

PMID:
11262048
43.

Composition, solubility and gel properties of salt soluble proteins from two bovine muscle types.

Vega-Warner V, Merkel RA, Smith DM.

Meat Sci. 1999 Mar;51(3):197-203.

PMID:
22061852

Supplemental Content

Loading ...
Support Center