(Q28281756)

English

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

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scholarly article

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Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (English)

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congenital disorder

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Lihadh Al-Gazali

10

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object named as

Bassam R Ali

9

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Ganeshwaran H Mochida

7

object named as

Ganeshwaran H Mochida

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Christopher A. Walsh

8

object named as

Christopher A Walsh

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1

object named as

Nadia A Akawi

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author name string

Fuat E Canpolat

2

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Susan M White

3

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Josep Quilis-Esquerra

4

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Martin Morales Sanchez

5

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Maria José Gamundi

6

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language of work or name

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publication date

March 2013

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34

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3

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498-505

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Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Tricellulin is a tight-junction protein necessary for hearing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

The junctional adhesion molecule 3 (JAM-3) on human platelets is a counterreceptor for the leukocyte integrin Mac-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Interaction of junctional adhesion molecule with the tight junction components ZO-1, cingulin, and occludin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Novel distribution of junctional adhesion molecule-C in the neural retina and retinal pigment epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Expression and function of junctional adhesion molecule-C in myelinated peripheral nerves

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Spermatid differentiation requires the assembly of a cell polarity complex downstream of junctional adhesion molecule-C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

20 March 2017

Schwann cell-specific JAM-C-deficient mice reveal novel expression and functions for JAM-C in peripheral nerves.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Rho signaling and tight junction functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Dynamics and functions of tight junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Evidence for cross-reactivity of JAM-C antibodies: implications for cellular localization studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Tight junctions at a glance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Organization of multiprotein complexes at cell-cell junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Tight junction and polarity interaction in the transporting epithelial phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Visiting the ER: the endoplasmic reticulum as a target for therapeutics in traffic related diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

JAM family and related proteins in leukocyte migration (Vestweber series).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

The role of junctional adhesion molecules in vascular inflammation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Epithelial tight junctions, gene expression and nucleo-junctional interplay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Junctional adhesion molecules (JAMs): more molecules with dual functions?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

Immunoglobulin superfamily proteins in Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

29 September 2017

JAM-C is an apical surface marker for neural stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

2 June 2018

Congenital Hydrocephalus-Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3951164

2 June 2018

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22263

21 January 2018

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22263

21 January 2018

ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22263

21 January 2018

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22263

21 January 2018

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22263

21 January 2018

Junctional adhesion molecule (JAM)-C deficient C57BL/6 mice develop a severe hydrocephalus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22263

21 January 2018

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke

1 reference

https://pubmed.ncbi.nlm.nih.gov/23255084

12 December 2020

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Identifiers

10.1002/HUMU.22263

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