Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes (Q37802413)

23 August 2017

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes (English)

1 reference

23 August 2017

1 reference

Laurence Heidet

3

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Corinne Antignac

object named as

Corinne Antignac

series ordinal

4

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author name string

Geneviève Benoit

series ordinal

1

1 reference

PubMed ID

20969579

23 August 2017

Eduardo Machuca

series ordinal

2

1 reference

PubMed ID

20969579

23 August 2017

language of work or name

English

0 references

publication date

22 October 2010

1 reference

Annals of the New York Academy of Sciences

23 August 2017

1 reference

23 August 2017

1214

1 reference

23 August 2017

83-98

1 reference

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

23 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

A molecular and genetic view of human renal and urinary tract malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Optic nerve coloboma associated with renal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

PAX2 suppresses apoptosis in renal collecting duct cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Suppression of ureteric bud apoptosis rescues nephron endowment and adult renal function in Pax2 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Vesico-ureteric reflux and urinary tract development in the Pax2 1Neu+/- mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

A common variant of the PAX2 gene is associated with reduced newborn kidney size

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Nephron number in patients with primary hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

SALL1 mutations in Townes-Brocks syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Defective planar cell polarity in polycystic kidney disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

A transcriptional network in polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

PAX2 mutations in oligomeganephronia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

The GDNF/RET signaling pathway and human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Renal agenesis and the absence of enteric neurons in mice lacking GDNF

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Defects in enteric innervation and kidney development in mice lacking GDNF

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

GFRalpha1 is an essential receptor component for GDNF in the developing nervous system and kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Renal aplasia in humans is associated with RET mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

SIX2 and BMP4 mutations associate with anomalous kidney development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

The transcription factor Six2 activates expression of the Gdnf gene as well as its own promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Bone morphogenetic protein 4 regulates the budding site and elongation of the mouse ureter

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

The hematopoietic system: a new niche for the renin-angiotensin system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Treatment of steroid-resistant focal segmental glomerulosclerosis with pulse methylprednisolone and alkylating agents

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

New insights into the pathophysiology of idiopathic nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Interaction with podocin facilitates nephrin signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Broadening the spectrum of diseases related to podocin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

PLC-epsilon: a shared effector protein in Ras-, Rho-, and G alpha beta gamma-mediated signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

MYH9 is associated with nondiabetic end-stage renal disease in African Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Association of trypanolytic ApoL1 variants with kidney disease in African Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Trypanosome lytic factor, an antimicrobial high-density lipoprotein, ameliorates Leishmania infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

ApoL1, a BH3-only lipid-binding protein, induces autophagic cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

The function of apolipoproteins L.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Formin proteins: a domain-based approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Actin up: regulation of podocyte structure and function by components of the actin cytoskeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

A novel TRPC6 mutation that causes childhood FSGS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

A Humanized Mouse Model of Idiopathic Nephrotic Syndrome Suggests a Pathogenic Role for Immature Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05817.X

10.1111/J.1749-6632.2010.05817.X

21 January 2018

Identifiers

DOI

1 reference

23 August 2017

1 reference

PubMed ID

20969579