OpenURL Connection Search

Select item for more details and to access through your institution.

Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathways.
Published in:
2013
By:
- Afshinnia, Farsad;
- Vega-Warner, Virginia;
- Killen, Paul
Publication type:
Correction Notice
Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathways.
Published in:
2013
By:
- Afshinnia, Farsad;
- Vega-Warner, Virginia;
- Killen, Paul
Publication type:
Case Study
Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
Published in:
2017
By:
- Crawford, Brendan;
- Gillies, Christopher;
- Robertson, Catherine;
- Kretzler, Matthias;
- Otto, Edgar;
- Vega-Warner, Virginia;
- Sampson, Matthew
Publication type:
Erratum
Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
Published in:
Pediatric Nephrology, 2017, v. 32, n. 3, p. 467, doi. 10.1007/s00467-016-3513-3
By:
- Crawford, Brendan;
- Gillies, Christopher;
- Robertson, Catherine;
- Kretzler, Matthias;
- Otto, Edgar;
- Vega-Wagner, Virginia;
- Sampson, Matthew
Publication type:
Article
A boy with proteinuria and focal global glomerulosclerosis: Question.
Published in:
Pediatric Nephrology, 2015, v. 30, n. 11, p. 1945, doi. 10.1007/s00467-014-2959-4
By:
- Sethi, Sidharth;
- Otto, Edgar;
- Ma, Sara;
- Duggal, Rajan;
- Vega-Warner, Virginia;
- Kher, Vijay
Publication type:
Article
A boy with proteinuria and focal global glomerulosclerosis: Answers.
Published in:
Pediatric Nephrology, 2015, v. 30, n. 11, p. 1947, doi. 10.1007/s00467-014-2961-x
By:
- Sethi, Sidharth;
- Otto, Edgar;
- Ma, Sara;
- Duggal, Rajan;
- Vega-Warner, Virginia;
- Kher, Vijay
Publication type:
Article
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Published in:
Pediatric Nephrology, 2013, v. 28, n. 5, p. 751, doi. 10.1007/s00467-012-2379-2
By:
- Kerti, Andrea;
- Csohány, Rózsa;
- Szabó, Attila;
- Árkossy, Ottó;
- Sallay, Péter;
- Moriniére, Vincent;
- Vega-Warner, Virginia;
- Nyírő, Gábor;
- Lakatos, Orsolya;
- Szabó, Tamás;
- Lipska, Beata;
- Schaefer, Franz;
- Antignac, Corinne;
- Reusz, George;
- Tulassay, Tivadar;
- Tory, Kálmán
Publication type:
Article
Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation.
Published in:
2011
By:
- Baskin, Esra;
- Selda Bayrakci, Umut;
- Alehan, Füsun;
- Ozdemir, Handan;
- Oner, Ayse;
- Horvath, Rita;
- Vega-Warner, Virginia;
- Hildebrandt, Friedhelm;
- Ozaltin, Fatih
Publication type:
Report
Adequate use of allele frequencies in Hispanics—a problem elucidated in nephrotic syndrome.
Published in:
Pediatric Nephrology, 2010, v. 25, n. 2, p. 261, doi. 10.1007/s00467-009-1315-6
By:
- Chernin, Gil;
- Heeringa, Saskia;
- Vega-Warner, Virginia;
- Schoeb, Dominik;
- Nürnberg, Peter;
- Hildebrandt, Friedhelm
Publication type:
Article
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.
Published in:
Pediatric Nephrology, 2008, v. 23, n. 9, p. 1455, doi. 10.1007/s00467-008-0861-7
By:
- Chernin, Gil;
- Heeringa, Saskia F.;
- Gbadegesin, Rasheed;
- Liu, Jinhong;
- Hinkes, Bernward G.;
- Vlangos, Christopher N.;
- Vega-Warner, Virginia;
- Hildebrandt, Friedhelm
Publication type:
Article
A Glimpse into a Wellbeing Journey.
Published in:
Workforce Solutions Review, 2015, v. 6, n. 4, p. 13
By:
- Morgado, Tony;
- Vega, Virginia
Publication type:
Article
Differential proteomic analysis of proteins induced by glucocorticoids in cultured murine podocytes.
Published in:
Kidney International, 2005, v. 67, n. 4, p. 1275, doi. 10.1111/j.1523-1755.2005.00205.x
By:
- Ransom, Richard F.;
- Vega-Warner, Virginia;
- Smoyer, William E.;
- Klein, Jon
Publication type:
Article
Induction of antioxidant enzymes in murine podocytes precedes injury by puromycin aminonucleoside.
Published in:
Kidney International, 2004, v. 66, n. 5, p. 1881, doi. 10.1111/j.1523-1755.2004.00962.x
By:
- Vega-Warner, Virginia;
- Ransom, Richard F.;
- Vincent, Andrea M.;
- Brosius, Frank C.;
- Smoyer, William E.
Publication type:
Article
Activation of the stress response in macrophages alters the M1/M2 balance by enhancing bacterial killing and IL-10 expression.
Published in:
Journal of Molecular Medicine, 2014, v. 92, n. 12, p. 1305, doi. 10.1007/s00109-014-1201-y
By:
- Vega, Virginia;
- Crotty Alexander, Laura;
- Charles, Wisler;
- Hwang, John;
- Nizet, Victor;
- De Maio, Antonio
Publication type:
Article
Global periorbital skin rejuvenation by a topical eye cream containing low molecular weight heparan sulfate (LMW‐HS) and a blend of naturally derived extracts.
Published in:
Journal of Cosmetic Dermatology, 2019, v. 18, n. 2, p. 530, doi. 10.1111/jocd.12857
By:
- Colvan, Lora;
- Fleck, Tina;
- Vega, Virginia L.
Publication type:
Article
Steroid-resistant nephrotic syndrome: impact of genetic testing.
Published in:
Annals of Saudi Medicine, 2013, v. 33, n. 6, p. 533, doi. 10.5144/0256-4947.2013.533
By:
- Kari, Jameela A.;
- El-Desoky, Sherif M.;
- Gari, Mamdooh;
- Malik, Khalid;
- Vega-Warner, Virginia;
- Lovric, Svjetlana;
- Bockenhauer, Detlef
Publication type:
Article
Comparing Kidney Health Outcomes in Children, Adolescents, and Adults With Focal Segmental Glomerulosclerosis.
Published in:
JAMA Network Open, 2022, v. 5, n. 8, p. e2228701, doi. 10.1001/jamanetworkopen.2022.28701
By:
- Gipson, Debbie S.;
- Troost, Jonathan P.;
- Spino, Cathie;
- Attalla, Samara;
- Tarnoff, Joshua;
- Massengill, Susan;
- Lafayette, Richard;
- Vega-Warner, Virginia;
- Adler, Sharon;
- Gipson, Patrick;
- Elliott, Matthew;
- Kaskel, Frederick;
- Fermin, Damian;
- Moxey-Mims, Marva;
- Fine, Richard N.;
- Brown, Elizabeth J.;
- Reidy, Kimberly;
- Tuttle, Katherine;
- Gibson, Keisha;
- Lemley, Kevin V.
Publication type:
Article
FAT1 mutations cause a glomerulotubular nephropathy.
Published in:
Nature Communications, 2016, v. 7, n. 2, p. 10822, doi. 10.1038/ncomms10822
By:
- Gee, Heon Yung;
- Sadowski, Carolin E.;
- Aggarwal, Pardeep K.;
- Porath, Jonathan D.;
- Yakulov, Toma A.;
- Schueler, Markus;
- Lovric, Svjetlana;
- Ashraf, Shazia;
- Braun, Daniela A.;
- Halbritter, Jan;
- Fang, Humphrey;
- Airik, Rannar;
- Vega-Warner, Virginia;
- Cho, Kyeong Jee;
- Chan, Timothy A.;
- Morris, Luc G. T.;
- ffrench-Constant, Charles;
- Allen, Nicholas;
- McNeill, Helen;
- Büscher, Rainer
Publication type:
Article
Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
Published in:
PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0130729
By:
- Ma, Sara L.;
- Vega-Warner, Virginia;
- Gillies, Christopher;
- Sampson, Matthew G.;
- Kher, Vijay;
- Sethi, Sidharth K.;
- Otto, Edgar A.
Publication type:
Article
An integrated organoid omics map extends modeling potential of kidney disease.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39740-7
By:
- Lassé, Moritz;
- El Saghir, Jamal;
- Berthier, Celine C.;
- Eddy, Sean;
- Fischer, Matthew;
- Laufer, Sandra D.;
- Kylies, Dominik;
- Hutzfeldt, Arvid;
- Bonin, Léna Lydie;
- Dumoulin, Bernhard;
- Menon, Rajasree;
- Vega-Warner, Virginia;
- Eichinger, Felix;
- Alakwaa, Fadhl;
- Fermin, Damian;
- Billing, Anja M.;
- Minakawa, Akihiro;
- McCown, Phillip J.;
- Rose, Michael P.;
- Godfrey, Bradley
Publication type:
Article
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Published in:
Kidney International, 2014, v. 85, n. 4, p. 880, doi. 10.1038/ki.2013.450
By:
- Gee, Heon Yung;
- Otto, Edgar A;
- Hurd, Toby W;
- Ashraf, Shazia;
- Chaki, Moumita;
- Cluckey, Andrew;
- Vega-Warner, Virginia;
- Saisawat, Pawaree;
- Diaz, Katrina A;
- Fang, Humphrey;
- Kohl, Stefan;
- Allen, Susan J;
- Airik, Rannar;
- Zhou, Weibin;
- Ramaswami, Gokul;
- Janssen, Sabine;
- Fu, Clementine;
- Innis, Jamie L;
- Weber, Stefanie;
- Vester, Udo
Publication type:
Article
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.
Published in:
Kidney International, 2012, v. 81, n. 2, p. 196, doi. 10.1038/ki.2011.315
By:
- Saisawat, Pawaree;
- Tasic, Velibor;
- Vega-Warner, Virginia;
- Kehinde, Elijah O;
- Günther, Barbara;
- Airik, Rannar;
- Innis, Jeffrey W;
- Hoskins, Bethan E;
- Hoefele, Julia;
- Otto, Edgar A;
- Hildebrandt, Friedhelm
Publication type:
Article
tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.
Published in:
BMC Bioinformatics, 2016, v. 17, p. 1, doi. 10.1186/s12859-016-1108-4
By:
- Gillies, Christopher E.;
- Otto, Edgar A.;
- Vega-Warner, Virginia;
- Robertson, Catherine C.;
- Sanna-Cherchi, Simone;
- Gharavi, Ali;
- Crawford, Brendan;
- Bhimma, Rajendra;
- Winkler, Cheryl;
- Hyun Min Kan;
- Sampson, Matthew G.
Publication type:
Article
Gap junctions, homeostasis, and injury.
Published in:
Journal of Cellular Physiology, 2002, v. 191, n. 3, p. 269, doi. 10.1002/jcp.10108
By:
- De Maio, Antonio;
- Vega, Virginia L.;
- Contreras, Jorge E.
Publication type:
Article
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Published in:
Nephrology Dialysis Transplantation, 2010, v. 25, n. 9, p. 2970, doi. 10.1093/ndt/gfq088
By:
- Schoeb, Dominik S.;
- Chernin, Gil;
- Heeringa, Saskia F.;
- Matejas, Verena;
- Held, Susanne;
- Vega-Warner, Virginia;
- Bockenhauer, Detlef;
- Vlangos, Christopher N.;
- Moorani, Khemchand N.;
- Neuhaus, Thomas J.;
- Kari, Jameela A.;
- MacDonald, James;
- Saisawat, Pawaree;
- Ashraf, Shazia;
- Ovunc, Bugsu;
- Zenker, Martin;
- Hildebrandt, Friedhelm
Publication type:
Article
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
Published in:
2015
By:
- Montgomery, Emma;
- Sayer, John A.;
- Baines, Laura A.;
- Hynes, Ann Marie;
- Vega-Warner, Virginia;
- Johnson, Sally;
- Goodship, Judith A.;
- Otto, Edgar A.
Publication type:
Case Study
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 6, p. 2375, doi. 10.1172/JCI79504
By:
- Heon Yung Gee;
- Fujian Zhang;
- Ashraf, Shazia;
- Kohl, Stefan;
- Sadowski, Carolin E.;
- Vega-Warner, Virginia;
- Weibin Zhou;
- Lovric, Svjetlana;
- Fang, Humphrey;
- Nettleton, Margaret;
- Jun-yi Zhu;
- Hoefele, Julia;
- Weber, Lutz T.;
- Podracka, Ludmila;
- Boor, Andrej;
- Fehrenbach, Henry;
- Innis, Jeffrey W.;
- Washburn, Joseph;
- Levy, Shawn;
- Lifton, Richard P.
Publication type:
Article
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Published in:
2013
By:
- Ashraf, Shazia;
- Gee, Heon Yung;
- Woerner, Stephanie;
- Xie, Letian X;
- Vega-Warner, Virginia;
- Lovric, Svjetlana;
- Fang, Humphrey;
- Song, Xuewen;
- Cattran, Daniel C;
- Avila-Casado, Carmen;
- Paterson, Andrew D;
- Nitschké, Patrick;
- Bole-Feysot, Christine;
- Cochat, Pierre;
- Esteve-Rudd, Julian;
- Haberberger, Birgit;
- Allen, Susan J;
- Zhou, Weibin;
- Airik, Rannar;
- Otto, Edgar A
Publication type:
journal article
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ<sub>10</sub> biosynthesis disruption.
Published in:
Journal of Clinical Investigation, 2013, v. 123, n. 12, p. 5179, doi. 10.1172/JCI69000
By:
- Ashraf, Shazia;
- Heon Yung Gee;
- Woerner, Stephanie;
- Letian X. Xie;
- Vega-Warner, Virginia;
- Lovric, Svjetlana;
- Humphrey Fang;
- Xuewen Song;
- Cattran, Daniel C.;
- Avila-Casado, Carmen;
- Paterson, Andrew D.;
- Nitschké, Patrick;
- Bole-Feysot, Christine;
- Cochat, Pierre;
- Esteve-Rudd, Julian;
- Haberberger, Birgit;
- Allen, Susan J.;
- Weibin Zhou;
- Airik, Rannar;
- Otto, Edgar A.
Publication type:
Article
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
Published in:
Journal of Clinical Investigation, 2013, v. 123, n. 8, p. 3243, doi. 10.1172/JCI69134
By:
- Gee, Heon Yung;
- Saisawat, Pawaree;
- Ashraf, Shazia;
- Hurd, Toby W.;
- Vega-Warner, Virginia;
- Fang, Humphrey;
- Beck, Bodo B.;
- Gribouval, Olivier;
- Zhou, Weibin;
- Diaz, Katrina A.;
- Natarajan, Sivakumar;
- Wiggins, Roger C.;
- Lovric, Svjetlana;
- Chernin, Gil;
- Schoeb, Dominik S.;
- Ovunc, Bugsu;
- Frishberg, Yaacov;
- Soliman, Neveen A.;
- Fathy, Hanan M.;
- Goebel, Heike
Publication type:
Article
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Published in:
2011
By:
- Heeringa, Saskia F.;
- Chernin, Gil;
- Chaki, Moumita;
- Weibin Zhou;
- Sloan, Alexis J.;
- Ziming Ji;
- Xie, Letian X.;
- Salviati, Leonardo;
- Hurd, Toby W.;
- Vega-Warner, Virginia;
- Killen, Paul D.;
- Raphael, Yehoash;
- Ashraf, Shazia;
- Ovunc, Bugsu;
- Schoeb, Dominik S.;
- McLaughlin, Heather M.;
- Airik, Rannar;
- Vlangos, Christopher N.;
- Gbadegesin, Rasheed;
- Hinkes, Bernward
Publication type:
journal article

Found: 31