Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. (Q42678945)

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16 January 2020

title

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9 (English)

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16 January 2020

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1

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16 January 2020

author name string

Fatih Ozaltin

2

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16 January 2020

Bernward G Hinkes

3

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16 January 2020

Katrin Hasselbacher

4

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16 January 2020

Rainer G Ruf

5

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16 January 2020

Michael Schultheiss

6

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16 January 2020

Daniela Hangan

7

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16 January 2020

Bethan E Hoskins

8

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16 January 2020

Anne Schulze Everding

9

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16 January 2020

Radovan Bogdanovic

10

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16 January 2020

Thomas Seeman

11

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16 January 2020

Bernd Hoppe

12

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16 January 2020

Friedhelm Hildebrandt

13

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Members of the APN Study Group

14

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language of work or name

English

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publication date

1 February 2006

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16 January 2020

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16 January 2020

volume

59

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16 January 2020

issue

2

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16 January 2020

page(s)

325-331

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https://scigraph.springernature.com/pub.10.1203/01.pdr.0000196717.94518.f0

16 January 2020

exact match

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cites work

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

1 reference

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

21 January 2018

1 reference

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NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

21 January 2018

1 reference

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WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.

21 January 2018

1 reference

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Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins

21 January 2018

1 reference

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Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.

21 January 2018

1 reference

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Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

21 January 2018

1 reference

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Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities

21 January 2018

1 reference

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Donor splice-site mutations in WT1 are responsible for Frasier syndrome

21 January 2018

1 reference

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The major podocyte protein nephrin is transcriptionally activated by the Wilms' tumor suppressor WT1.

21 January 2018

1 reference

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Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus

21 January 2018

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Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

21 January 2018

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A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease

21 January 2018

1 reference

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GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.

21 January 2018

1 reference

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Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

21 January 2018

1 reference

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Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.

21 January 2018

1 reference

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Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique

21 January 2018

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[Glomerulopathy in Denys-Drash syndrome. Case report of a model disease].

21 January 2018

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Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development

21 January 2018

1 reference

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Familial Wilms tumour resulting from WT1 mutation: intronic polymorphism causing artefactual constitutional homozygosity

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000196717.94518.F0

An Unusual Phenotype of Frasier Syndrome due to IVS9 +4C>T Mutation in the WT1 Gene: Predominantly Male Ambiguous Genitalia and Absence of Gonadal Dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000196717.94518.F0

10.1203/01.PDR.0000196717.94518.F0

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16439601%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

16 January 2020

0 references

1 reference