(Q28115636)

3 January 2017

title

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment (English)

1 reference

3 January 2017

1 reference

GOA release 2020-03-11

1 reference

18

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Anders D. Børglum

22

Anders D. Børglum

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Anna Starnawska

Anna Starnawska

6

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Annalisa Buniello

Annalisa Buniello

8

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Ditte Demontis

Ditte Demontis

5

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Morten Frödin

Morten Frödin

19

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Morten S Nielsen

Morten S. Nielsen

3

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Michael Toft Overgaard

Michael T. Overgaard

10

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Thomas Juhl Corydon

Thomas J. Corydon

4

0 references

Mette Nyegaard

Mette Nyegaard

1

0 references

Karen Steel

20

Karen P. Steel

1 reference

3 January 2017

11

Suzanne M. Leal

1 reference

3 January 2017

17

Hannie Kremer

1 reference

3 January 2017

Nanna D. Rendtorff

2

1 reference

3 January 2017

Anne Hedemand

7

1 reference

3 January 2017

Francesco Niola

9

1 reference

3 January 2017

Wasim Ahmad

12

1 reference

3 January 2017

Friedrik P. Wikman

13

1 reference

3 January 2017

Kirsten B. Petersen

14

1 reference

3 January 2017

Dorthe G. Crüger

15

1 reference

3 January 2017

Jaap Oostrik

16

1 reference

3 January 2017

Lisbeth Tranebjærg

21

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3 January 2017

publication date

1 July 2015

1 reference

3 January 2017

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3 January 2017

volume

11

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3 January 2017

issue

7

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3 January 2017

page(s)

e1005386

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Creative Commons Attribution 4.0 International

3 January 2017

copyright license

start time

21 July 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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The sialomucin CD164 (MGC-24v) is an adhesive glycoprotein expressed by human hematopoietic progenitors and bone marrow stromal cells that serves as a potent negative regulator of hematopoiesis

20 March 2017

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The sortilin cytoplasmic tail conveys Golgi-endosome transport and binds the VHS domain of the GGA2 sorting protein

20 March 2017

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Endolyn (CD164) modulates the CXCL12-mediated migration of umbilical cord blood CD133+ cells

20 March 2017

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20 March 2017

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20 March 2017

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Competing sorting signals guide endolyn along a novel route to lysosomes in MDCK cells

20 March 2017

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Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening

20 March 2017

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Jxc1/Sobp, encoding a nuclear zinc finger protein, is critical for cochlear growth, cell fate, and patterning of the organ of corti

20 March 2017

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20 March 2017

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Regulation of myoblast motility and fusion by the CXCR4-associated sialomucin, CD164

20 March 2017

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Mechanism for activation of the growth factor-activated AGC kinases by turn motif phosphorylation

20 March 2017

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Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

20 March 2017

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Endolyn is a mucin-like type I membrane protein targeted to lysosomes by its cytoplasmic tail

20 March 2017

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20 March 2017

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BEDTools: a flexible suite of utilities for comparing genomic features

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7 April 2017

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Genotype phenotype correlations for hearing impairment: approaches to management

7 April 2017

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The promise of whole-exome sequencing in medical genetics

29 September 2017

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Apical targeting and endocytosis of the sialomucin endolyn are essential for establishment of zebrafish pronephric kidney function

29 September 2017

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High-throughput sequencing to decipher the genetic heterogeneity of deafness

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510537

Adeno-associated virus-delivered polycistronic microRNA-clusters for knockdown of vascular endothelial growth factor in vivo.

29 September 2017

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Hereditary hearing loss: from human mutation to mechanism

29 September 2017

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SorLA regulates the activity of lipoprotein lipase by intracellular trafficking

29 September 2017

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Hearing loss: mechanisms revealed by genetics and cell biology

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510537

Sorting of lysosomal proteins

29 September 2017

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Coordinated protein sorting, targeting and distribution in polarized cells

29 September 2017

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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510537

N-glycans mediate apical recycling of the sialomucin endolyn in polarized MDCK cells

29 September 2017

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29 September 2017

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Altered trafficking and epithelial cell polarity in disease

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510537

Reliable identification of large numbers of candidate SNPs from public EST data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510537

Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510537

Differential use of two AP-3-mediated pathways by lysosomal membrane proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4510537

Mutation of Foxo3 causes adult onset auditory neuropathy and alters cochlear synapse architecture in mice.

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005386

10.1371/JOURNAL.PGEN.1005386

21 January 2018

Identifiers

DOI

0 references

PMC publication ID

4510537

0 references

1 reference