@article {84,
	title = {Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.},
	journal = {Nat Genet},
	volume = {48},
	year = {2016},
	month = {2016 Apr},
	pages = {457-65},
	abstract = {<p>Nucleoporins are essential components of the nuclear pore complex (NPC). Only a few diseases have been attributed to NPC dysfunction. Steroid-resistant nephrotic syndrome (SRNS), a frequent cause of chronic kidney disease, is caused by dysfunction of glomerular podocytes. Here we identify in eight families with SRNS mutations in NUP93, its interaction partner NUP205 or XPO5 (encoding exportin 5) as hitherto unrecognized monogenic causes of SRNS. NUP93 mutations caused disrupted NPC assembly. NUP93 knockdown reduced the presence of NUP205 in the NPC, and, reciprocally, a NUP205 alteration abrogated NUP93 interaction. We demonstrate that NUP93 and exportin 5 interact with the signaling protein SMAD4 and that NUP93 mutations abrogated interaction with SMAD4. Notably, NUP93 mutations interfered with BMP7-induced SMAD transcriptional reporter activity. We hereby demonstrate that mutations of NUP genes cause a distinct renal disease and identify aberrant SMAD signaling as a new disease mechanism of SRNS, opening a potential new avenue for treatment. </p>},
	keywords = {Age of Onset, Amino Acid Sequence, Animals, Cell Movement, Cell Proliferation, Cells, Cultured, Child, Child, Preschool, Drug Resistance, Female, Genes, Recessive, Genetic Association Studies, Genetic Linkage, HEK293 Cells, Humans, Infant, Karyopherins, Male, Mice, Molecular Sequence Data, Mutation, Nephrotic Syndrome, Nuclear Pore Complex Proteins, Oxidative Stress, Podocytes, Sequence Analysis, DNA, Steroids, Xenopus laevis},
	issn = {1546-1718},
	doi = {10.1038/ng.3512},
	author = {Braun, Daniela A and Sadowski, Carolin E and Kohl, Stefan and Lovric, Svjetlana and Astrinidis, Susanne A and Pabst, Werner L and Gee, Heon Yung and Ashraf, Shazia and Lawson, Jennifer A and Shril, Shirlee and Airik, Merlin and Tan, Weizhen and Schapiro, David and Rao, Jia and Choi, Won-Il and Hermle, Tobias and Kemper, Markus J and Pohl, Martin and Ozaltin, Fatih and Konrad, Martin and Bogdanovic, Radovan and B{\"u}scher, Rainer and Helmchen, Udo and Serdaroglu, Erkin and Lifton, Richard P and Antonin, Wolfram and Hildebrandt, Friedhelm}
}
@article {138,
	title = {Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.},
	journal = {Am J Hum Genet},
	volume = {97},
	year = {2015},
	month = {2015 Aug 06},
	pages = {291-301},
	abstract = {<p>Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life. Identification of single-gene mutations that cause CAKUT permits the first insights into related disease mechanisms. However, for most cases the underlying defect remains elusive. We identified a kindred with an autosomal-dominant form of CAKUT with predominant ureteropelvic junction obstruction. By whole exome sequencing, we identified a heterozygous truncating mutation (c.1010delG) of T-Box transcription factor 18 (TBX18) in seven affected members of the large kindred. A screen of additional families with CAKUT identified three families harboring two heterozygous TBX18 mutations (c.1570C>T and c.487A>G). TBX18 is essential for developmental specification of the ureteric mesenchyme and ureteric smooth muscle cells. We found that all three TBX18 altered proteins still dimerized with the wild-type protein but had prolonged protein half life and exhibited reduced transcriptional repression activity compared to wild-type TBX18. The p.Lys163Glu substitution altered an amino acid residue critical for TBX18-DNA interaction, resulting in impaired TBX18-DNA binding. These data indicate that dominant-negative TBX18 mutations cause human CAKUT by interference with TBX18 transcriptional repression, thus implicating ureter smooth muscle cell development in the pathogenesis of human CAKUT.</p>},
	keywords = {Base Sequence, Electrophoretic Mobility Shift Assay, Exome, Gene Expression Regulation, Developmental, Genes, Dominant, HEK293 Cells, Humans, Immunohistochemistry, Immunoprecipitation, Microscopy, Fluorescence, Molecular Sequence Data, Muscle, Smooth, Mutation, Pedigree, Sequence Analysis, DNA, T-Box Domain Proteins, Ureter, Urinary Tract},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2015.07.001},
	author = {Vivante, Asaf and Kleppa, Marc-Jens and Schulz, Julian and Kohl, Stefan and Sharma, Amita and Chen, Jing and Shril, Shirlee and Hwang, Daw-Yang and Weiss, Anna-Carina and Kaminski, Michael M and Shukrun, Rachel and Kemper, Markus J and Lehnhardt, Anja and Beetz, Rolf and Sanna-Cherchi, Simone and Verbitsky, Miguel and Gharavi, Ali G and Stuart, Helen M and Feather, Sally A and Goodship, Judith A and Goodship, Timothy H J and Woolf, Adrian S and Westra, Sjirk J and Doody, Daniel P and Bauer, Stuart B and Lee, Richard S and Adam, Rosalyn M and Lu, Weining and Reutter, Heiko M and Kehinde, Elijah O and Mancini, Erika J and Lifton, Richard P and Tasic, Velibor and Lienkamp, Soeren S and J{\"u}ppner, Harald and Kispert, Andreas and Hildebrandt, Friedhelm}
}
