(Q36618592)

15 August 2017

A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis (English)

1 reference

focal segmental glomerulosclerosis

15 August 2017

1 reference

Mykyta Artomov

2

0 references

Matthew G Sampson

object named as

Matthew G Sampson

6

0 references

Sanjay Jain

object named as

Sanjay Jain

10

0 references

Mark Joseph Daly

14

object named as

Mark J Daly

1 reference

15 August 2017

8

Matthias Kretzler

1 reference

15 August 2017

11

Cheryl A Winkler

1 reference

15 August 2017

12

Robi D Mitra

1 reference

15 August 2017

9

Jeffrey H Miner

1 reference

15 August 2017

Haiyang Yu

1

1 reference

15 August 2017

Sebastian Brähler

3

1 reference

15 August 2017

M Christine Stander

4

1 reference

15 August 2017

Ghaidan Shamsan

5

1 reference

15 August 2017

J Michael White

7

1 reference

15 August 2017

Jeffrey B Kopp

13

1 reference

15 August 2017

Andrey S Shaw

15

1 reference

15 August 2017

language of work or name

English

0 references

publication date

22 February 2016

1 reference

Journal of Clinical Investigation

15 August 2017

1 reference

15 August 2017

126

1 reference

15 August 2017

3

1 reference

15 August 2017

1067-1078

1 reference

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

APOL1 Risk Variants Are Strongly Associated with HIV-Associated Nephropathy in Black South Africans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Defining nephrotic syndrome from an integrative genomics perspective

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Evolution of the primate trypanolytic factor APOL1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Feasibility of repairing glomerular basement membrane defects in Alport syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

The promise of whole-exome sequencing in medical genetics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Urine podocyte mRNAs, proteinuria, and progression in human glomerular diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Patterns and rates of exonic de novo mutations in autism spectrum disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Inducible podocyte injury and proteinuria in transgenic zebrafish

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Focal segmental glomerulosclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Cell biology and pathology of podocytes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Population-based risk assessment of APOL1 on renal disease.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Defining the molecular character of the developing and adult kidney podocyte

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

A framework for variation discovery and genotyping using next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

A rapid and scalable system for studying gene function in mice using conditional RNA interference

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Testing for an unusual distribution of rare variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Association of trypanolytic ApoL1 variants with kidney disease in African Americans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Systematic analysis of a novel human renal glomerulus-enriched gene expression dataset

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Uncovering the roles of rare variants in common disease through whole-genome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Pooled association tests for rare variants in exon-resequencing studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Discovery of rare variants via sequencing: implications for the design of complex trait association studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Disruption of Myosin 1e promotes podocyte injury

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Genetic mapping in human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Podocyte injury in focal segmental glomerulosclerosis: Lessons from animal models (a play in five acts).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Failure of epithelial tube maintenance causes hydrocephalus and renal cysts in Dlg5-/- mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

The spectrum of podocytopathies: a unifying view of glomerular diseases.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

F0 generation mice fully derived from gene-targeted embryonic stem cells allowing immediate phenotypic analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

A lentiviral microRNA-based system for single-copy polymerase II-regulated RNA interference in mammalian cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Synaptopodin-deficient mice lack a spine apparatus and show deficits in synaptic plasticity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

The genetic basis of FSGS and steroid-resistant nephrosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Inherited podocytopathies: FSGS and nephrotic syndrome from a genetic viewpoint

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Rac1 activation in podocytes induces rapid foot process effacement and proteinuria

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Efficient method to generate single-copy transgenic mice by site-specific integration in embryonic stem cells

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Podocyte depletion causes glomerulosclerosis: diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Congenital nephrotic syndrome in mice lacking CD2-associated protein

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Podocyte depletion and glomerulosclerosis have a direct relationship in the PAN-treated rat

21 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4767358

Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26901816

12 December 2020

inferred from PubMed ID database lookup

Expression of novel podocyte-associated proteins sult1b1 and ankrd25

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26901816

12 December 2020

inferred from PubMed ID database lookup

Molecular fingerprinting of the podocyte reveals novel gene and protein regulatory networks

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26901816

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1172/JCI82592

1 reference

release_nsk6fnmz4rdvtlon3wd376gnyi

15 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nsk6fnmz4rdvtlon3wd376gnyi

24 November 2022

mapped directly with Wikidata item

1 reference

15 August 2017

PubMed publication ID

26901816

1 reference