Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis (Q62644413)

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17 January 2020

title

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis (English)

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17 January 2020

1

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17 January 2020

Jane Gibson

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17 January 2020

Andrew Collins

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17 January 2020

Karen Temple

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17 January 2020

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William J Tapper

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17 January 2020

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Newton E Morton

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17 January 2020

author name string

Esta Cross

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17 January 2020

Beverley Dell

11

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17 January 2020

Claire L S Turner

2

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17 January 2020

Paul S Bass

4

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17 January 2020

Mushfequr R Haq

5

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17 January 2020

David J Bunyan

7

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17 January 2020

Juliet C Needell

10

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17 January 2020

David O Robinson

14

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language of work or name

English

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publication date

26 November 2008

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17 January 2020

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17 January 2020

volume

75

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17 January 2020

issue

4

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17 January 2020

page(s)

415-419

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https://scigraph.springernature.com/pub.10.1038/ki.2008.573

17 January 2020

exact match

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cites work

Respiratory chain deficiency presenting as congenital nephrotic syndrome.

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https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

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https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS)

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

Centiles for adult head circumference

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

Phospholipase C epsilon modulates beta-adrenergic receptor-dependent cardiac contraction and inhibits cardiac hypertrophy

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https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis

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https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

Exploiting large scale computing to construct high resolution linkage disequilibrium maps of the human genome

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https://api.crossref.org/works/10.1038%2FKI.2008.573

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

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7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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7 January 2021