(Q34507948)

2 August 2017

title

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder (English)

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2 August 2017

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5

Fowzan S Alkuraya

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2 August 2017

Hanan E Shamseldin

1

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2 August 2017

Alexis H Bennett

series ordinal

2

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2 August 2017

Majid Alfadhel

series ordinal

3

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2 August 2017

Vandana Gupta

series ordinal

4

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2 August 2017

publication date

7 January 2016

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2 August 2017

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2 August 2017

volume

135

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2 August 2017

issue

2

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2 August 2017

page(s)

245-251

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Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

GM130 Regulates Golgi-Derived Spindle Assembly by Activating TPX2 and Capturing Microtubules

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Golgi post-translational modifications and associated diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Human knockout research: new horizons and opportunities

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Primordial dwarfism: an update

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Genetics and genomic medicine in Saudi Arabia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Connecting the cytoskeleton to the endoplasmic reticulum and Golgi.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Genomic analysis of primordial dwarfism reveals novel disease genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Golgi disruption and early embryonic lethality in mice lacking USO1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Membrane-trafficking sorting hubs: cooperation between PI4P and small GTPases at the trans-Golgi network

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Structural organization of the Golgi apparatus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

A primary role for Golgi positioning in directed secretion, cell polarity, and wound healing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Motoring around the Golgi

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

The mitotic phosphorylation cycle of the cis-Golgi matrix protein GM130

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Cdc2 kinase directly phosphorylates the cis-Golgi matrix protein GM130 and is required for Golgi fragmentation in mitosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Mapping the interaction between GRASP65 and GM130, components of a protein complex involved in the stacking of Golgi cisternae

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

The vesicle docking protein p115 binds GM130, a cis-Golgi matrix protein, in a mitotically regulated manner

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Characterization of a cis-Golgi matrix protein, GM130

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4975006

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-015-1632-8

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-015-1632-8

Cytoskeleton and Golgi-apparatus interactions: a two-way road of function and structure

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-015-1632-8

10.1007/S00439-015-1632-8

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

2 August 2017

0 references

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2 August 2017

1 reference