(Q47037332)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771254%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

title

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome (English)

1 reference

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26 March 2020

1 reference

GOA release 2020-03-11

author

Rachid C. Maroun Or Rachid Maroun

4

1 reference

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26 March 2020

Catherine Chaussain

9

1 reference

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26 March 2020

Patrick A. Curmi

14

1 reference

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26 March 2020

author name string

Smail Hadj-Rabia

1

1 reference

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26 March 2020

Gaelle Brideau

2

1 reference

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26 March 2020

Yasser Al-Sarraj

3

1 reference

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26 March 2020

Marie-Lucile Figueres

5

1 reference

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26 March 2020

Stéphanie Leclerc-Mercier

6

1 reference

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26 March 2020

Eric Olinger

7

1 reference

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26 March 2020

Stéphanie Baron

8

1 reference

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26 March 2020

Dominique Nochy

10

1 reference

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26 March 2020

Rowaida Z Taha

11

1 reference

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26 March 2020

Bertrand Knebelmann

12

1 reference

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26 March 2020

Vandana Joshi

13

1 reference

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26 March 2020

Marios Kambouris

15

1 reference

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26 March 2020

Rosa Vargas-Poussou

16

1 reference

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26 March 2020

Christine Bodemer

17

1 reference

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26 March 2020

Olivier Devuyst

18

1 reference

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26 March 2020

Pascal Houillier

19

1 reference

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26 March 2020

Hatem El-Shanti

20

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26 March 2020

language of work or name

English

0 references

publication date

3 August 2017

1 reference

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26 March 2020

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26 March 2020

volume

20

1 reference

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26 March 2020

issue

2

1 reference

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26 March 2020

page(s)

190-201

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771254%20AND%20SRC:MED&resulttype=core&format=json

Dynamic properties of the tight junction barrier

26 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Crosstalk of tight junction components with signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Assembly and function of claudins: Structure-function relationships based on homology models and crystal structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Importance of Tight Junctions in Relation to Skin Barrier Function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Conceptual barriers to understanding physical barriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

HomozygosityMapper--an interactive approach to homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

GeneDistiller--distilling candidate genes from linkage intervals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Two splice variants of claudin-10 in the kidney create paracellular pores with different ion selectivities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Heterogeneity in expression and subcellular localization of tight junction proteins, claudin-10 and -15, examined by RT-PCR and immunofluorescence microscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Crystal structure of a claudin provides insight into the architecture of tight junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Atlas of gene expression in the mouse kidney: new features of glomerular parietal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Tissue compartment analysis for biomarker discovery by gene expression profiling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Regulation of pendrin by cAMP: possible involvement in β-adrenergic-dependent NaCl retention.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Differentiated thick ascending limb (TAL) cultured cells derived from SV40 transgenic mice express functional apical NHE2 isoform: effect of nitric oxide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

A panoramic view of gene expression in the human kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Systemic disorders and their influence on the development of dental hard tissues: a literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Expression patterns of claudin family of tight junction membrane proteins in developing mouse submandibular gland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Organization and formation of the tight junction system in human epidermis and cultured keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Claudin-based tight junctions are crucial for the mammalian epidermal barrier: a lesson from claudin-1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Sweat, the driving force behind normal skin: an emerging perspective on functional biology and regulatory mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Eccrine sweat gland development and sweat secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Fluid secretion and the Na+-K+-2Cl- cotransporter in mouse exorbital lacrimal gland

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Current trends in salivary gland tight junctions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

7 January 2021

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

7 January 2021

Differential expression patterns of the tight junction-associated proteins occludin and claudins in secretory and mature ameloblasts in mouse incisor

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

7 January 2021

Impaired tight junctions obstruct stratum corneum formation by altering polar lipid and profilaggrin processing

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.71

7 January 2021

Identifiers

DOI

10.1038/GIM.2017.71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28771254%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference