(Q34902937)

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CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 August 2017

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CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein (English)

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Europe PubMed Central

PubMed publication ID

5 August 2017

congenital disorder

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Dina Schneidman-Duhovny

6

object named as

Dina Schneidman-Duhovny

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Gabriela Schmajuk

9

object named as

Gabriela Schmajuk

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Anne Slavotinek

1

object named as

Anne Slavotinek

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Europe PubMed Central

PubMed publication ID

5 August 2017

author name string

Julie Kaylor

2

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Europe PubMed Central

PubMed publication ID

5 August 2017

Heather Pierce

3

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Michelle Cahr

4

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Stephanie J DeWard

5

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Adnan Alsadah

7

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Fadi Salem

8

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Europe PubMed Central

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5 August 2017

Lakshmi Mehta

10

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Europe PubMed Central

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5 August 2017

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publication date

31 December 2014

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Europe PubMed Central

PubMed publication ID

5 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

5 August 2017

96

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Europe PubMed Central

PubMed publication ID

5 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

162-169

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Nephrin and Podocin functions are highly conserved between the zebrafish pronephros and mammalian metanephros

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Spatial-temporal expressions of Crumbs and Nagie oko and their interdependence in zebrafish central nervous system during early development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Complexities of Crumbs function and regulation in tissue morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Structural disorganization of pronephric glomerulus in zebrafish mpp5a/nagie oko mutant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Deficiency in Crumbs homolog 2 (Crb2) affects gastrulation and results in embryonic lethality in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Protein complexes that control renal epithelial polarity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

The apical-basal cell polarity determinant Crumbs regulates Hippo signaling in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Composition and function of the Crumbs protein complex in the mammalian retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Protein homology detection by HMM-HMM comparison

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

CRB1 mutation spectrum in inherited retinal dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Loss of cell polarity causes severe brain dysplasia in Lgl1 knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Cell biology of the glomerular podocyte

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Comparative protein modelling by satisfaction of spatial restraints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

crumbs encodes an EGF-like protein expressed on apical membranes of Drosophila epithelial cells and required for organization of epithelia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

8 July 2018

Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

28 July 2018

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

26 October 2018

A reverse genetic screen in the zebrafish identifies crb2b as a regulator of the glomerular filtration barrier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

26 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

26 October 2018

Expression of a novel secretory form (Crb1s) of mouse Crumbs homologue Crb1 in skin development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

26 October 2018

Congenital nephropathy and ventriculomegaly: a report of four cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

26 October 2018

Interactions between the crumbs, lethal giant larvae and bazooka pathways in epithelial polarization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

26 October 2018

Crumbs and stardust act in a genetic pathway that controls the organization of epithelia in Drosophila melanogaster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289687

26 October 2018

Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25557780

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25557780

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2014.11.013

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

ResearchGate publication ID

0 references

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