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Genotype–phenotype associations in WT1 glomerulopathy
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instance of
scholarly article
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title
Genotype–phenotype associations in WT1 glomerulopathy
(English)
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main subject
nephrology
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phenotype
1 reference
based on heuristic
inferred from title
author
Bassam Saeed
object named as
Bassam Saeed
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19
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Paraskevas Iatropoulos
object named as
Paraskevas Iatropoulos
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3
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Beata S Lipska-Ziętkiewicz
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Beata S. Lipska
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1
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Maria Szczepanska
object named as
Maria Szczepanska
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12
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Gianluca Caridi
object named as
Gianluca Caridi
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7
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Augustina Jankauskiene
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10
object named as
Augustina Jankauskiene
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Anna Moczulska
object named as
Anna Moczulska
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18
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Aleksandra Żurowska
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11
object named as
Aleksandra Zurowska
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Eva Simková
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22
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Eva Simkova
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author name string
Bruno Ranchin
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2
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Jutta Gellermann
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4
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Anette Melk
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5
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Fatih Ozaltin
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6
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Tomas Seeman
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8
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Kalman Tory
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9
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Anna Wasilewska
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13
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Jerome Harambat
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14
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Agnes Trautmann
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15
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Amira Peco-Antic
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16
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Halina Borzecka
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17
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Radovan Bogdanovic
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20
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Mukaddes Kalyoncu
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21
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Ozlem Erdogan
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23
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Kristina Vrljicak
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24
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Ana Teixeira
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25
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Marta Azocar
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26
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Franz Schaefer
series ordinal
27
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language of work or name
English
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publication date
May 2014
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published in
Kidney International
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volume
85
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issue
5
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page(s)
1169-1178
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exact match
https://scigraph.springernature.com/pub.10.1038/ki.2013.519
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cites work
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic screening in adolescents with steroid-resistant nephrotic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wilms' tumours: about tumour suppressor genes, an oncogene and a chameleon gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Donor splice-site mutations in WT1 are responsible for Frasier syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recurrence of a dysgerminoma in Frasier syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effect of cyclosporin A on proteinuria in the course of glomerulopathy associated with WT1 mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Slow progressive FSGS associated with an F392L WT1 mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Contribution of individual amino acids to the RNA binding activity of the Wilms' tumor suppressor protein WT1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The same mutation affecting the splicing ofWT1 gene is present on Frasier syndrome patients with or without Wilms' tumor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ESEfinder: A web resource to identify exonic splicing enhancers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FKI.2013.519
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/KI.2013.519
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PubMed ID
24402088
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