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Mutations in EMP2 cause childhood-onset nephrotic syndrome
scientific article
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instance of
scholarly article
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title
Mutations in EMP2 cause childhood-onset nephrotic syndrome
(English)
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main subject
Epithelial membrane protein 2
1 reference
stated in
GOA release 2020-03-11
positive regulation of cell population proliferation
1 reference
stated in
GOA release 2020-03-11
Epithelial membrane protein 2
1 reference
stated in
GOA release 2020-03-11
nephrotic syndrome
1 reference
based on heuristic
inferred from title
author
Friedhelm Hildebrandt
series ordinal
20
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Shawn Levy
object named as
Shawn Levy
series ordinal
14
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Edgar A. Otto
object named as
Edgar A Otto
series ordinal
11
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Xiaoyang Wan
object named as
Xiaoyang Wan
series ordinal
3
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Virginia Vega-Warner
series ordinal
4
object named as
Virginia Vega-Warner
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Toby Hurd
series ordinal
8
object named as
Toby W Hurd
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Julian Esteve-Rudd
series ordinal
5
object named as
Julian Esteve-Rudd
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Svjetlana Lovric
series ordinal
6
object named as
Svjetlana Lovric
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Shazia Ashraf
series ordinal
2
object named as
Shazia Ashraf
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Humphrey Fang
series ordinal
7
object named as
Humphrey Fang
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Carolin E. Sadowski
series ordinal
9
object named as
Carolin E Sadowski
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Fatih Ozaltin
series ordinal
18
object named as
Fatih Ozaltin
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author name string
Heon Yung Gee
series ordinal
1
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Susan J Allen
series ordinal
10
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Emine Korkmaz
series ordinal
12
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Joseph Washburn
series ordinal
13
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David S Williams
series ordinal
15
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Sevcan A Bakkaloglu
series ordinal
16
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Anna Zolotnitskaya
series ordinal
17
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Weibin Zhou
series ordinal
19
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language of work or name
English
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publication date
5 June 2014
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published in
American Journal of Human Genetics
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volume
94
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page(s)
884-90
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issue
6
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cites work
Epithelial membrane protein 2 controls VEGF expression in ARPE-19 cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121470
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A systematic approach to mapping recessive disease genes in individuals from outbred populations
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p53 activation by knockdown technologies
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PubMed Central
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19 March 2017
Epithelial membrane protein-2 regulates surface expression of alphavbeta3 integrin in the endometrium
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PubMed Central
reference URL
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19 March 2017
Cell biology and pathology of podocytes
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PubMed Central
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19 March 2017
The tetraspan protein EMP2 modulates the surface expression of caveolins and glycosylphosphatidyl inositol-linked proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121470
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19 March 2017
Large-scale identification of genes implicated in kidney glomerulus development and function
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Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome
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PubMed Central
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PubMed Central
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Genetic kidney diseases
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PubMed Central
reference URL
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27 September 2017
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations
1 reference
stated in
PubMed Central
reference URL
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27 September 2017
The tetraspan protein EMP2 regulates expression of caveolin-1.
1 reference
stated in
PubMed Central
reference URL
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27 September 2017
Organization of the pronephric filtration apparatus in zebrafish requires Nephrin, Podocin and the FERM domain protein Mosaic eyes
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27 September 2017
Glomerular-specific alterations of VEGF-A expression lead to distinct congenital and acquired renal diseases
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27 September 2017
Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family
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PubMed Central
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27 September 2017
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
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PubMed Central
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Early development of the zebrafish pronephros and analysis of mutations affecting pronephric function.
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PubMed Central
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30 May 2018
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121470
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29 November 2018
A reverse genetic screen in the zebrafish identifies crb2b as a regulator of the glomerular filtration barrier
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121470
retrieved
29 November 2018
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121470
retrieved
29 November 2018
Glomerular endothelial fenestrae in vivo are not formed from caveolae
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121470
retrieved
29 November 2018
Getting a foothold in nephrotic syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24814193
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Nephrotic syndrome in children: prediction of histopathology from clinical and laboratory characteristics at time of diagnosis. A report of the International Study of Kidney Disease in Children
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24814193
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The significance of caveolae in the glomeruli in glomerular disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24814193
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.AJHG.2014.04.010
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1287270
OpenCitations bibliographic resource ID
1287270
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1287270
PMCID
4121470
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1287270
PubMed ID
24814193
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1287270
ResearchGate publication ID
262230090
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