MYO1E mutations and childhood familial focal segmental glomerulosclerosis (Q30541167)

17 August 2017

MYO1E mutations and childhood familial focal segmental glomerulosclerosis (English)

1 reference

focal segmental glomerulosclerosis

17 August 2017

1 reference

18

1 reference

PubMed publication ID

24 June 2017

20

1 reference

PubMed publication ID

24 June 2017

Mira Krendel

10

0 references

Paraskevas Iatropoulos

Paraskevas Iatropoulos

2

0 references

Andrea Calabria

Andrea Calabria

4

0 references

Ariela Benigni

Ariela Benigni

Maria Rosaria Capobianchi

24

0 references

Maria Rosaria Capobianchi

16

0 references

Giuseppe Remuzzi

Giuseppe Remuzzi

25

0 references

Isabella Abbate

15

Isabella Abbate

1 reference

17 August 2017

8

Susanna Tomasoni

1 reference

17 August 2017

12

Marina Morigi

1 reference

17 August 2017

7

Simona Buelli

1 reference

17 August 2017

1

Caterina Mele

1 reference

17 August 2017

3

Roberta Donadelli

1 reference

17 August 2017

9

Rossella Piras

1 reference

17 August 2017

11

Serena Bettoni

1 reference

17 August 2017

26

Marina Noris

1 reference

17 August 2017

Ramona Maranta

5

1 reference

17 August 2017

Paola Cassis

6

1 reference

17 August 2017

Massimo Delledonne

13

1 reference

17 August 2017

Carmine Pecoraro

14

1 reference

17 August 2017

Friedhelm Hildebrandt

17

1 reference

17 August 2017

Franz Schaefer

19

1 reference

17 August 2017

Fatih Ozaltin

21

1 reference

17 August 2017

Sevinc Emre

22

1 reference

17 August 2017

Tulin Ibsirlioglu

23

1 reference

17 August 2017

PodoNet Consortium

27

1 reference

17 August 2017

language of work or name

English

0 references

publication date

14 July 2011

1 reference

The New England Journal of Medicine

17 August 2017

1 reference

17 August 2017

365

1 reference

17 August 2017

4

1 reference

17 August 2017

295-306

1 reference

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

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Glomerular diseases: genetic causes and future therapeutics.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

CKD in MYH9-related disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Identification of a putative network of actin-associated cytoskeletal proteins in glomerular podocytes defined by co-purified mRNAs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Treatment of focal segmental glomerulosclerosis with immunophilin modulation: when did we stop thinking about pathogenesis?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Switch 1 mutation S217A converts myosin V into a low duty ratio motor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Disruption of Myosin 1e promotes podocyte injury

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Calcium sensitivity of the cross-bridge cycle of Myo1c, the adaptation motor in the inner ear

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Focal segmental glomerulosclerosis: recent advances

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Multiple myosins are required to coordinate actin assembly with coat compression during compensatory endocytosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

A proposed taxonomy for the podocytopathies: a reassessment of the primary nephrotic diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Podocytes are sensitive to fluid shear stress in vitro

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Synaptopodin orchestrates actin organization and cell motility via regulation of RhoA signalling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Twenty-one-year trend in ESRD due to focal segmental glomerulosclerosis in the United States

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Is there really an increase in non-minimal change nephrotic syndrome in children?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

The kinetic mechanism of Myo1e (human myosin-IC)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Caught flat-footed: podocyte damage and the molecular bases of focal glomerulosclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Loss of glomerular foot processes is associated with uncoupling of podocalyxin from the actin cytoskeleton

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Changing incidence of glomerular diseases in adults

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

A randomized trial of cyclosporine in patients with steroid-resistant focal segmental glomerulosclerosis. North America Nephrotic Syndrome Study Group.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Increasing incidence of focal-segmental glomerulosclerosis among adult nephropathies: a 20-year renal biopsy study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Ultrastructural organization of contractile and cytoskeletal proteins in glomerular podocytes of chicken, rat, and man.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Pathologic classification of focal segmental glomerulosclerosis: a working proposal

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701523

Proteinuria and immunity--an overstated relationship?

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21756023

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Optimization of genome search strategies for homozygosity mapping: influence of marker spacing on power and threshold criteria for identification of candidate regions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21756023

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1056/NEJMOA1101273

1 reference

release_yukvturicjcy3jg3vcpfvk6pju

17 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yukvturicjcy3jg3vcpfvk6pju

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

17 August 2017

PubMed publication ID

21756023

1 reference