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DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
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Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
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Hum Genet. 2019 Mar;138(3):211-219.
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Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
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Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
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The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development.
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J Biol Chem. 2018 ;293:15243.
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GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
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A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes.
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Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
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Nat Commun. 2018 ;9:1960.
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Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
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Hypertension. 2018 ;71:691.
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PLoS One. 2018 ;13:e0191503.
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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
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Am J Hum Genet. 2017 ;100:323.
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Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte.
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J Am Soc Nephrol. 2017;28:1521.
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Mutations in SLC26A1 Cause Nephrolithiasis.
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Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
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Hum Mutat. 2015; 36:1150.
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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
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J Am Soc Nephrol. 2015; 26:543.
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Mol Cell Proteomics. 2014; 13:1397.
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Am J Hum Genet. 2013; 93: 915.
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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
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Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
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Am J Hum Genet. 2013; 93: 711.
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Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
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Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group.
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