TMEM165 deficiency causes a congenital disorder of glycosylation (Q24337807)

protein N-linked glycosylation

GOA release 2020-03-11

1 reference

congenital disorder of glycosylation

GOA release 2020-03-11

1 reference

1 reference

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based on heuristic

inferred from title

author

Emile Van Schaftingen

18

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Miikka Vikkula

19

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Pierre Morsomme

object named as

Pierre Morsomme

15

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François Foulquier

object named as

François Foulquier

1

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Hudson H. Freeze

object named as

Hudson H Freeze

17

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author name string

Mustapha Amyere

2

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Jaak Jaeken

3

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Renate Zeevaert

4

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Els Schollen

5

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Valérie Race

6

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Riet Bammens

7

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Willy Morelle

8

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Claire Rosnoblet

9

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Dominique Legrand

10

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Didier Demaegd

11

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Neil Buist

12

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David Cheillan

13

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Nathalie Guffon

14

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Willem Annaert

16

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Gert Matthijs

American Journal of Human Genetics

20

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language of work or name

English

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publication date

13 July 2012

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published in

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volume

91

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page(s)

15-26

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issue

1

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cites work

Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotide-polymorphism genotyping microarrays

1 reference

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Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

19 March 2017

1 reference

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19 March 2017

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Rab11 regulates recycling through the pericentriolar recycling endosome

19 March 2017

1 reference

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Localization of low molecular weight GTP binding proteins to exocytic and endocytic compartments

19 March 2017

1 reference

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Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes

19 March 2017

1 reference

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CDG nomenclature: time for a change!

19 March 2017

1 reference

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Golgi function and dysfunction in the first COG4-deficient CDG type II patient

27 September 2017

1 reference

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Glycosylation diseases: quo vadis?

27 September 2017

1 reference

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COG defects, birth and rise!

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397274

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

27 September 2017

1 reference

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BlotGlycoABCTM, an integrated glycoblotting technique for rapid and large scale clinical glycomics

27 September 2017

1 reference

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Congenital disorders of glycosylation: a rapidly expanding disease family

27 September 2017

1 reference

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A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation

27 September 2017

1 reference

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Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

27 September 2017

1 reference

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A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

27 September 2017

1 reference

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pH Homeostasis of cellular organelles

27 September 2017

1 reference

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Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397274

COG8 deficiency causes new congenital disorder of glycosylation type IIh.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397274

10.1016/J.AJHG.2012.05.002

29 November 2018

Identifiers

DOI

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909892

909892

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1 reference

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