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TMEM165 deficiency causes a congenital disorder of glycosylation
scientific article
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instance of
scholarly article
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title
TMEM165 deficiency causes a congenital disorder of glycosylation
(English)
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main subject
congenital disorder
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Transmembrane protein 165
1 reference
stated in
GOA release 2020-03-11
protein N-linked glycosylation
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stated in
GOA release 2020-03-11
glycosylation
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based on heuristic
inferred from title
congenital disorder
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based on heuristic
inferred from title
congenital disorder of glycosylation
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based on heuristic
inferred from title
author
Emile Van Schaftingen
series ordinal
18
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Miikka Vikkula
series ordinal
19
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Pierre Morsomme
object named as
Pierre Morsomme
series ordinal
15
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François Foulquier
object named as
François Foulquier
series ordinal
1
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Hudson H. Freeze
object named as
Hudson H Freeze
series ordinal
17
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author name string
Mustapha Amyere
series ordinal
2
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Jaak Jaeken
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3
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Renate Zeevaert
series ordinal
4
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Els Schollen
series ordinal
5
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Valérie Race
series ordinal
6
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Riet Bammens
series ordinal
7
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Willy Morelle
series ordinal
8
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Claire Rosnoblet
series ordinal
9
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Dominique Legrand
series ordinal
10
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Didier Demaegd
series ordinal
11
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Neil Buist
series ordinal
12
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David Cheillan
series ordinal
13
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Nathalie Guffon
series ordinal
14
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Willem Annaert
series ordinal
16
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Gert Matthijs
series ordinal
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
American Journal of Human Genetics
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volume
91
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issue
1
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page(s)
15-26
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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
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PubMed Central
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Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
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27 September 2017
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
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Glycosylation diseases: quo vadis?
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COG defects, birth and rise!
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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
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BlotGlycoABCTM, an integrated glycoblotting technique for rapid and large scale clinical glycomics
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27 September 2017
Congenital disorders of glycosylation: a rapidly expanding disease family
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27 September 2017
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation
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Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
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A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays
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pH Homeostasis of cellular organelles
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Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
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COG8 deficiency causes new congenital disorder of glycosylation type IIh.
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Identifiers
DOI
10.1016/J.AJHG.2012.05.002
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
909892
OpenCitations bibliographic resource ID
909892
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
909892
PMC publication ID
3397274
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
909892
PubMed ID
22683087
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
909892
ResearchGate publication ID
225286132
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