Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome (Q28116031)

4 January 2017

title

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome (English)

1 reference

4 January 2017

1 reference

Importin 7

1 reference

SMAD protein signal transduction

1 reference

Nucleoporin 93

1 reference

1 reference

Friedhelm Hildebrandt

27

0 references

Udo Helmchen

23

Udo Helmchen

0 references

Tobias Hermle

Tobias Hermle

16

0 references

Daniela A Braun

Daniela A. Braun

1

0 references

Wolfram Antonin

Wolfram Antonin

26

0 references

Heon Yung Gee

Heon Yung Gee

7

0 references

Erkin Serdaroglu

Erkin Serdaroglu

24

0 references

Merlin Airik

11

Merlin Airik

1 reference

4 January 2017

4

Svjetlana Lovric

1 reference

4 January 2017

8

Shazia Ashraf

1 reference

4 January 2017

17

Markus J. Kemper

1 reference

4 January 2017

2

Carolin E. Sadowski

1 reference

4 January 2017

19

Fatih Ozaltin

1 reference

4 January 2017

9

Jennifer A. Lawson

1 reference

4 January 2017

10

Shirlee Shril

1 reference

4 January 2017

12

Weizhen Tan

1 reference

4 January 2017

13

David Schapiro

1 reference

4 January 2017

21

Radovan Bogdanovic

1 reference

4 January 2017

22

Rainer Büscher

1 reference

4 January 2017

25

Richard P. Lifton

1 reference

4 January 2017

Stefan Kohl

3

1 reference

4 January 2017

Susanne A. Astrinidis

5

1 reference

4 January 2017

Werner L. Pabst

6

1 reference

4 January 2017

Jia Rao

14

1 reference

4 January 2017

Won-Il Choi

15

1 reference

4 January 2017

Martin Pohl

18

1 reference

4 January 2017

Martin Konrad

20

1 reference

4 January 2017

Udo Helmchen

23

1 reference

4 January 2017

language of work or name

English

0 references

publication date

1 April 2016

1 reference

4 January 2017

1 reference

4 January 2017

volume

48

1 reference

4 January 2017

issue

4

1 reference

4 January 2017

page(s)

457–465

1 reference

A systematic approach to mapping recessive disease genes in individuals from outbred populations

4 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Exportin-5, a novel karyopherin, mediates nuclear export of double-stranded RNA binding proteins

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Mutations in EMP2 cause childhood-onset nephrotic syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Exp5 exports eEF1A via tRNA from nuclei and synergizes with other transport pathways to confine translation to the cytoplasm

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Bmp modulators in kidney disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Nuclear export of microRNA precursors

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Insight into structure and assembly of the nuclear pore complex by utilizing the genome of a eukaryotic thermophile

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Purification of NSP1 reveals complex formation with ‘GLFG’ nucleoporins and a novel nuclear pore protein NIC96

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Mutant WD-repeat protein in triple-A syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Insertional mutagenesis in zebrafish identifies two novel genes, pescadillo and dead eye, essential for embryonic development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

The nuclear pore complex and nuclear transport

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Parametric and nonparametric linkage analysis: a unified multipoint approach

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Allegro, a new computer program for multipoint linkage analysis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Response to cyclosporine in steroid-resistant nephrotic syndrome: discontinuation is possible

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

The diverse roles of the Nup93/Nic96 complex proteins - structural scaffolds of the nuclear pore complex with additional cellular functions.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Functional architecture of the nuclear pore complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

The C-terminal domain of Nup93 is essential for assembly of the structural backbone of nuclear pore complexes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Specific nucleoporin requirement for Smad nuclear translocation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Preferential utilization of Imp7/8 in nuclear import of Smads

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

The spectrum of podocytopathies: a unifying view of glomerular diseases.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

The nucleoporin Nup188 controls passage of membrane proteins across the nuclear pore complex

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

MEL-28/ELYS is required for the recruitment of nucleoporins to chromatin and postmitotic nuclear pore complex assembly

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Regulation of intracellular dynamics of Smad4 by its leucine-rich nuclear export signal

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811732

Contributions of the Transplant Registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS).

2 June 2018

1 reference

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

21 January 2018

1 reference

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

21 January 2018

1 reference

Disruption of Smad4 impairs TGF-β/Smad3 and Smad7 transcriptional regulation during renal inflammation and fibrosis in vivo and in vitro.

21 January 2018

1 reference

Direct visualization of Smad1/5/8-mediated transcriptional activity identifies podocytes and collecting ducts as major targets of BMP signalling in healthy and diseased kidneys

21 January 2018

1 reference

BMP7 is a podocyte survival factor and rescues podocytes from diabetic injury

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/26878725

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Xenopus in vitro assays to analyze the function of transmembrane nucleoporins and targeting of inner nuclear membrane proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/26878725

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

0 references

0 references

1 reference