PMC Articles for MedGen (Select 887391) - PMC

Select item 106736881.

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa

Louansha Nandlal, Cheryl A. Winkler, Rajendra Bhimma, Sungkweon Cho, George W. Nelson, Sudesh Haripershad, Thajasvarie Naicker

Eur J Pediatr. Author manuscript; available in PMC 2023 Nov 24.

Published in final edited form as: Eur J Pediatr. 2022 Oct; 181(10): 3595–3606. Published online 2022 Aug 3. doi: 10.1007/s00431-022-04581-x

PMCID:: PMC10673688

Abstract Article PDF–667K

Select item 105065842.

FSGS and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis

Mira Krendel, Sabine Leh, Michael E. Garone, Alcia Edwards-Richards, Jen-Jar Lin, Damien Brackman, Per Knappskog, Alexei Mikhailov

Pediatr Nephrol. Author manuscript; available in PMC 2024 Feb 1.

Published in final edited form as: Pediatr Nephrol. 2023 Feb; 38(2): 439–449. Published online 2022 Jun 20. doi: 10.1007/s00467-022-05634-x

PMCID:: PMC10506584

Abstract Article PDF–1.7M

Select item 96780343.

Steroid-Resistant Nephrotic Syndrome–Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity

Pei-Ju Liu, Laura K. Gunther, Michael E. Garone, Chunling Zhang, Diana Perez, Jing Bi-Karchin, Christopher D. Pellenz, Sharon E. Chase, Maria F. Presti, Eric L. Plante, Claire E. Martin, Svjetlana Lovric, Christopher M. Yengo, Friedhelm Hildebrandt, Mira Krendel

J Am Soc Nephrol. 2022 Nov; 33(11): 1989–2007. Published online 2022 Nov. doi: 10.1681/ASN.2021111505

PMCID:: PMC9678034

Abstract Article

Select item 45362794.

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

Rachel Lennon, Helen M. Stuart, Agnieszka Bierzynska, Michael J. Randles, Bronwyn Kerr, Katherine A. Hillman, Gauri Batra, Joanna Campbell, Helen Storey, Frances A. Flinter, Ania Koziell, Gavin I. Welsh, Moin A. Saleem, Nicholas J. A. Webb, Adrian S. Woolf

Pediatr Nephrol. 2015; 30(9): 1459–1465. Published online 2015 Mar 5. doi: 10.1007/s00467-015-3067-9

PMCID:: PMC4536279

Abstract Article PDF–797K

Select item 37015235.

MYO1E MUTATIONS AND CHILDHOOD FAMILIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS

Caterina Mele, Paraskevas Iatropoulos, Roberta Donadelli, Andrea Calabria, Ramona Maranta, Paola Cassis, Simona Buelli, Susanna Tomasoni, Rossella Piras, Mira Krendel, Serena Bettoni, Marina Morigi, Massimo Delledonne, Carmine Pecoraro, Isabella Abbate, Maria Rosaria Capobianchi, Friedhelm Hildebrandt, Edgar Otto, Franz Schaefer, Fabio Macciardi, Fatih Ozaltin, Sevinc Emre, Tulin Ibsirlioglu, Ariela Benigni, Giuseppe Remuzzi, Marina Noris

N Engl J Med. Author manuscript; available in PMC 2013 Jul 4.

Published in final edited form as: N Engl J Med. 2011 Jul 28; 365(4): 295–306. Published online 2011 Jul 14. doi: 10.1056/NEJMoa1101273

PMCID:: PMC3701523

Abstract Article PDF–3.5M

Select item 34696816.

Podocyte-specific knockout of myosin 1e disrupts glomerular filtration

Sharon E. Chase, Christina V. Encina, Lindsay R. Stolzenburg, Arthur H. Tatum, Lawrence B. Holzman, Mira Krendel

Am J Physiol Renal Physiol. 2012 Oct 1; 303(7): F1099–F1106. Published online 2012 Jul 18. doi: 10.1152/ajprenal.00251.2012

PMCID:: PMC3469681

Abstract Article

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