(Q24293179)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

title

Mutations in PAX2 associate with adult-onset FSGS (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

GOA release 2020-03-11

positive regulation of transcription, DNA-templated

1 reference

GOA release 2020-03-11

author

Marco Tartaglia

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Moumita Barua

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Emilia Stellacci

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Lorenzo Stella

3

1 reference

ORCID Public Data File 2021

author name string

Astrid Weins

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Giulio Genovese

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Valentina Muto

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Viviana Caputo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Hakan R Toka

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Victoria T Charoonratana

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Martin R Pollak

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

language of work or name

English

0 references

publication date

27 March 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

Journal of the American Society of Nephrology

12 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

page(s)

1942-1953

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human

12 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Fast and accurate short read alignment with Burrows-Wheeler transform

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

The FoldX web server: an online force field

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Structural studies of Ets-1/Pax5 complex formation on DNA

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

UCSF Chimera--a visualization system for exploratory research and analysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Getting your Pax straight: Pax proteins in development and disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Pax-2 controls multiple steps of urogenital development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

A curated compendium of phosphorylation motifs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

A framework for variation discovery and genotyping using next-generation DNA sequencing data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Integrative genomics viewer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Focal segmental glomerulosclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

PAX2 in human kidney malformations and disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Focal and segmental glomerulosclerosis: multiple pathways are involved

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Determinants of renal disease variability in ADPKD.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

GeneDistiller--distilling candidate genes from linkage intervals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

KinasePhos 2.0: a web server for identifying protein kinase-specific phosphorylation sites based on sequences and coupling patterns

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Groucho suppresses Pax2 transactivation by inhibition of JNK-mediated phosphorylation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

The hunchback and its neighbours: proline as an environmental modulator

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Mapping of Pax-2 transcription activation domains

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

C-terminal activating and inhibitory domains determine the transactivation potential of BSAP (Pax-5), Pax-2 and Pax-8.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147972

Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT)

29 November 2018

1 reference

12 December 2020

An Inducible Mouse Model for PAX2-Dependent Glomerular Disease: Insights into a Complex Pathogenesis

1 reference

12 December 2020

Molecular Recognition of Transcriptional Repressor Motifs by the WD Domain of the Groucho/TLE Corepressor

1 reference

12 December 2020

A clinico-genetic study of renal coloboma syndrome in children

1 reference

12 December 2020

Focal segmental glomerulosclerosis is induced by microRNA-193a and its downregulation of WT1

1 reference

12 December 2020

PaxGenes: Evolution and Function

1 reference

Crossref

https://api.crossref.org/works/10.1681%2FASN.2013070686

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1681/ASN.2013070686

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676634%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference