(Q34657855)

3 August 2017

title

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome (English)

1 reference

3 August 2017

0 references

1 reference

GOA release 2020-03-11

1 reference

13

Nathalie Boddaert

0 references

Michel Tsimaratos

11

Michel Tsimaratos

1 reference

3 August 2017

Christelle Arrondel

6

0 references

Valérie Desquiret-Dumas

Valérie Desquiret-Dumas

17

0 references

Géraldine Mollet

Géraldine Mollet

3

0 references

Arnaud Chevrollier

Arnaud Chevrollier

15

0 references

Marc Ferre

Marc Ferré

18

0 references

Olivia Boyer

Olivia Boyer

7

0 references

Olivier Gribouval

Olivier Gribouval

5

0 references

Dominique Bonneau

Dominique Bonneau

23

0 references

Marie-Claire Gubler

Marie-Claire Gubler

9

0 references

Corinne Antignac

Corinne Antignac

24

0 references

Benoit Funalot

Benoit Funalot

21

0 references

Vincent Procaccio

Vincent Procaccio

19

0 references

Alain Verloes

Alain Verloes

14

1 reference

3 August 2017

Estelle Colin

1

1 reference

3 August 2017

Evelyne Huynh Cong

2

1 reference

3 August 2017

Agnès Guichet

4

1 reference

3 August 2017

Laurent Daniel

8

1 reference

3 August 2017

Zelal Ekinci

10

1 reference

3 August 2017

Brigitte Chabrol

12

1 reference

3 August 2017

Naig Gueguen

16

1 reference

3 August 2017

Laurence Richard

20

1 reference

3 August 2017

Anne Moncla

22

1 reference

3 August 2017

language of work or name

English

0 references

publication date

13 November 2014

1 reference

American Journal of Human Genetics

3 August 2017

published in

1 reference

3 August 2017

volume

95

1 reference

3 August 2017

issue

6

1 reference

3 August 2017

page(s)

637-648

1 reference

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

The expression and significance of neuronal iconic proteins in podocytes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Cell biology in neuroscience: Cellular and molecular mechanisms underlying axon formation, growth, and branching

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

A method for WD40 repeat detection and secondary structure prediction

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Identifying the hotspots on the top faces of WD40-repeat proteins from their primary sequences by β-bulges and DHSW tetrads

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Galloway-Mowat syndrome: neurologic features in two sibling pairs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

The podocyte cytoskeleton--key to a functioning glomerulus in health and disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Structure and function of WD40 domain proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

WDR62 is associated with the spindle pole and is mutated in human microcephaly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Human RASSF7 regulates the microtubule cytoskeleton and is required for spindle formation, Aurora B activation and chromosomal congression during mitosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Podocyte glutamatergic signaling contributes to the function of the glomerular filtration barrier.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Late-onset nephrotic syndrome in galloway-mowat syndrome: a case report.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Architecture of a coat for the nuclear pore membrane

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Late-onset growth restriction in Galloway-Mowat syndrome: a case report

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Process formation of the renal glomerular podocyte: is there common molecular machinery for processes of podocytes and neurons?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

ASPM is a major determinant of cerebral cortical size

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Nonuniform microtubular polarity established by CHO1/MKLP1 motor protein is necessary for process formation of podocytes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Synaptopodin: an actin-associated protein in telencephalic dendrites and renal podocytes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Dating the development of human cerebellum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Microtubule dynamics alter the interphase nucleus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Neuronal proteins are novel components of podocyte major processes and their expression in glomerular crescents supports their role in crescent formation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Diallyl trisulfide induces apoptosis in human primary colorectal cancer cells.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259970

Glomerular podocytes contain neuron-like functional synaptic vesicles

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25466283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25466283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.10.011

1 reference

3 August 2017

1 reference

3 August 2017

1 reference