PMC Articles for MedGen (Select 891201) - PMC

Links from MedGen

Items: 1 to 20 of 89

<< First< Prev

Page of 5

Select item 56599871.

Pharmacological inhibition of focal segmental glomerulosclerosis‐related, gain of function mutants of TRPC6 channels by semi‐synthetic derivatives of larixol

Nicole Urban, Sonja Neuser, Anika Hentschel, Sebastian Köhling, Jörg Rademann, Michael Schaefer

Br J Pharmacol. 2017 Nov; 174(22): 4099–4122. Published online 2017 Oct 15. doi: 10.1111/bph.13977

Correction in:: Br J Pharmacol. 2019 Apr; 176(7): 981.

PMCID:: PMC5659987

Abstract Article PDF–3.3M

Select item 43959962.

Insights into the Renal Pathogenesis in Schimke Immuno-Osseous Dysplasia: A Renal Histological Characterization and Expression Analysis

Sanjay Sarin, Ashkan Javidan, Felix Boivin, Iakovina Alexopoulou, Dusan Lukic, Bruno Svajger, Stephanie Chu, Alireza Baradaran-Heravi, Cornelius F. Boerkoel, Norman D. Rosenblum, Darren Bridgewater

J Histochem Cytochem. 2015 Jan; 63(1): 32–44. doi: 10.1369/0022155414558335

PMCID:: PMC4395996

Abstract Article PDF–1.4M

Select item 45118613.

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Robert N. Jinks, Erik G. Puffenberger, Emma Baple, Brian Harding, Peter Crino, Agnes B. Fogo, Olivia Wenger, Baozhong Xin, Alanna E. Koehler, Madeleine H. McGlincy, Margaret M. Provencher, Jeffrey D. Smith, Linh Tran, Saeed Al Turki, Barry A. Chioza, Harold Cross, Gaurav V. Harlalka, Matthew E. Hurles, Reza Maroofian, Adam D. Heaps, Mary C. Morton, Lisa Stempak, Friedhelm Hildebrandt, Carolin E. Sadowski, Joshua Zaritsky, Kenneth Campellone, D. Holmes Morton, Heng Wang, Andrew Crosby, Kevin A. Strauss

Brain. 2015 Aug; 138(8): 2173–2190. Published online 2015 Jun 12. doi: 10.1093/brain/awv153

PMCID:: PMC4511861

Abstract Article PDF–2.2M

Select item 45624654.

APOL1 kidney disease risk variants – an evolving landscape

Patrick D. Dummer, Sophie Limou, Avi Z. Rosenberg, Jurgen Heymann, George Nelson, Cheryl A. Winkler, Jeffrey B. Kopp

Semin Nephrol. Author manuscript; available in PMC 2016 May 1.

Published in final edited form as: Semin Nephrol. 2015 May; 35(3): 222–236. doi: 10.1016/j.semnephrol.2015.04.008

PMCID:: PMC4562465

Abstract Article PDF–1.1M

Select item 47439095.

A Novel Splice Site Mutation in SMARCAL1 Results in Aberrant Exon Definition in a Child with Schimke Immunoosseous Dysplasia

Clinton Carroll, Tracy E. Hunley, Yan Guo, David Cortez

Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Am J Med Genet A. 2015 Oct; 0(10): 2260–2264. Published online 2015 May 5. doi: 10.1002/ajmg.a.37146

PMCID:: PMC4743909

Abstract Article PDF–1.2M

Select item 47673586.

A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis

Haiyang Yu, Mykyta Artomov, Sebastian Brähler, M. Christine Stander, Ghaidan Shamsan, Matthew G. Sampson, J. Michael White, Matthias Kretzler, Jeffrey H. Miner, Sanjay Jain, Cheryl A. Winkler, Robi D. Mitra, Jeffrey B. Kopp, Mark J. Daly, Andrey S. Shaw

J Clin Invest. 2016 Mar 1; 126(3): 1067–1078. Published online 2016 Feb 22. doi: 10.1172/JCI82592

Correction in:: J Clin Invest. 2016 Apr 1; 126(4): 1603.

PMCID:: PMC4767358

Abstract Article PDF–1.4M

Select item 51581867.

Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing

Di Feng, Julia M. Steinke, Ramaswamy Krishnan, Gabriel Birrane, Martin R. Pollak

PLoS One. 2016; 11(12): e0167467. Published online 2016 Dec 15. doi: 10.1371/journal.pone.0167467

PMCID:: PMC5158186

Abstract Article PDF–1.1M

Select item 53404068.

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

Saila Holopainen, Marjo K. Hytönen, Pernilla Syrjä, Meharji Arumilli, Anna-Kaisa Järvinen, Minna Rajamäki, Hannes Lohi

PLoS Genet. 2017 Feb; 13(2): e1006625. Published online 2017 Feb 21. doi: 10.1371/journal.pgen.1006625

PMCID:: PMC5340406

Abstract Article PDF–1.6M

Select item 53638709.

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population

Konstantinos Voskarides, Charalambos Stefanou, Myrtani Pieri, Panayiota Demosthenous, Kyriakos Felekkis, Maria Arsali, Yiannis Athanasiou, Dimitris Xydakis, Kostas Stylianou, Eugenios Daphnis, Giorgos Goulielmos, Petros Loizou, Judith Savige, Martin Höhne, Linus A. Völker, Thomas Benzing, Patrick H. Maxwell, Daniel P. Gale, Mathias Gorski, Carsten Böger, Barbara Kollerits, Florian Kronenberg, Bernhard Paulweber, Michalis Zavros, Alkis Pierides, Constantinos Deltas

PLoS One. 2017; 12(3): e0174274. Published online 2017 Mar 23. doi: 10.1371/journal.pone.0174274

PMCID:: PMC5363870

Abstract Article PDF–2.0M

Select item 560328510.

Transgenic Expression of Human APOL1 Risk Variants in Podocytes Induces Kidney Disease in Mice

Pazit Beckerman, Jing Bi-Karchin, Ae Seo Deok Park, Chengxiang Qiu, Patrick D. Dummer, Irfana Soomro, Carine M. Boustany-Kari, Steven S. Pullen, Jeffrey H. Miner, Chien-An A. Hu, Tibor Rohacs, Kazunori Inoue, Shuta Ishibe, Moin A. Saleem, Matthew B. Palmer, Ana Maria Cuervo, Jeffrey B. Kopp, Katalin Susztak

Nat Med. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Nat Med. 2017 Apr; 23(4): 429–438. Published online 2017 Feb 20. doi: 10.1038/nm.4287

PMCID:: PMC5603285

Abstract Article PDF–913K

Select item 563521011.

Transcription and translation of APOL1 variants

Samina Ejaz

Biosci Rep. 2017 Oct 31; 37(5): BSR20170647. Prepublished online 2017 Aug 25. Published online 2017 Oct 11. doi: 10.1042/BSR20170647

PMCID:: PMC5635210

Abstract Article PDF–281K

Select item 438689312.

Lipid biology of the podocyte—new perspectives offer new opportunities

Alessia Fornoni, Sandra Merscher, Jeffrey B. Kopp

Nat Rev Nephrol. Author manuscript; available in PMC 2015 Apr 6.

Published in final edited form as: Nat Rev Nephrol. 2014 Jul; 10(7): 379–388. Published online 2014 May 27. doi: 10.1038/nrneph.2014.87

PMCID:: PMC4386893

Abstract Article PDF–1.1M

Select item 582760913.

Differentiating Primary, Genetic, and Secondary FSGS in Adults: A Clinicopathologic Approach

An S. De Vriese, Sanjeev Sethi, Karl A. Nath, Richard J. Glassock, Fernando C. Fervenza

J Am Soc Nephrol. 2018 Mar; 29(3): 759–774. Published online 2018 Jan 10. doi: 10.1681/ASN.2017090958

PMCID:: PMC5827609

Abstract Article

Select item 587966514.

UBD modifies APOL1-induced kidney disease risk

Jia-Yue Zhang, Minxian Wang, Lei Tian, Giulio Genovese, Paul Yan, James G. Wilson, Ravi Thadhani, Amy K. Mottl, Gerald B. Appel, Alexander G. Bick, Matthew G. Sampson, Seth L. Alper, David J. Friedman, Martin R. Pollak

Proc Natl Acad Sci U S A. 2018 Mar 27; 115(13): 3446–3451. Published online 2018 Mar 12. doi: 10.1073/pnas.1716113115

PMCID:: PMC5879665

Abstract Article PDF–1.1M

Select item 603245115.

Rare Functional Variants of Podocin (NPHS2) Promoter in Patients With Nephrotic Syndrome

Roberta Oleggini, Roberta Bertelli, Armando Di Donato, Marco Di Duca, Gianluca Caridi, Simone Sanna-Cherchi, Francesco Scolari, Luisa Murer, Landino Allegri, Rosanna Coppo, Francesco Emma, Giovanni Camussi, Francesco Perfumo, Gian Marco Ghiggeri

Gene Expr. 2006; 13(1): 59–66. Published online 2018 Jul 5. doi: 10.3727/000000006783991926

PMCID:: PMC6032451

Abstract Article PDF–208K

Select item 606509616.

The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes

Gentzon Hall, Brandon M. Lane, Kamal Khan, Igor Pediaditakis, Jianqiu Xiao, Guanghong Wu, Liming Wang, Maria E. Kovalik, Megan Chryst-Stangl, Erica E. Davis, Robert F. Spurney, Rasheed A. Gbadegesin

J Am Soc Nephrol. 2018 Aug; 29(8): 2110–2122. Published online 2018 Jul 12. doi: 10.1681/ASN.2017121338

PMCID:: PMC6065096

Abstract Article

Select item 627568817.

The transcriptional regulation of Podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism

Sigrid Harendza, Rolf A.K. Stahl, André Schneider

Cell Mol Biol Lett. 2009 Dec; 14(4): 679–691. Published online 2009 Jun 27. doi: 10.2478/s11658-009-0026-0

PMCID:: PMC6275688

Summary PDF–2.5M

Select item 638695918.

Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis

Jenny Frese, Matthias Kettwig, Hildegard Zappel, Johannes Hofer, Hermann-Josef Gröne, Mato Nagel, Gere Sunder-Plassmann, Renate Kain, Jörg Neuweiler, Oliver Gross

Int J Mol Sci. 2019 Feb; 20(3): 519. Published online 2019 Jan 26. doi: 10.3390/ijms20030519

PMCID:: PMC6386959

Abstract Article PDF–1.7M

Select item 639092519.

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS

Tony Yao, Khalil Udwan, Rohan John, Akanchaya Rana, Amirreza Haghighi, Lizhen Xu, Saidah Hack, Heather N. Reich, Michelle Adrienne Hladunewich, Daniel C. Cattran, Andrew D. Paterson, York Pei, Moumita Barua

Clin J Am Soc Nephrol. 2019 Feb 7; 14(2): 213–223. Published online 2019 Jan 15. doi: 10.2215/CJN.08750718

PMCID:: PMC6390925

Abstract Article

Select item 653399920.

APOL1 risk variants and kidney disease: what we know so far

Tobias August Siemens, Miguel Carlos Riella, Thyago Proença de Moraes, Cristian Vidal Riella

J Bras Nefrol. 2018 Oct-Dec; 40(4): 388–402. Published online 2018 Jul 26. doi: 10.1590/2175-8239-JBN-2017-0033

PMCID:: PMC6533999

Abstract Article PDF–700K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 89

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity