(Q36157289)

12 August 2017

Expanding the Molecular and Clinical Phenotype of SSR4-CDG. (English)

1 reference

12 August 2017

3

1 reference

12 August 2017

Brett H Graham

12

0 references

Hudson H. Freeze

object named as

Hudson H Freeze

19

0 references

Jay Shendure

6

object named as

Jay Shendure

1 reference

University of Washington Center for Mendelian Genomics

12 August 2017

9

object named as

University of Washington Center for Mendelian Genomics

1 reference

12 August 2017

7

Deborah A Nickerson

1 reference

12 August 2017

8

Michael J Bamshad

1 reference

12 August 2017

4

Kati J Buckingham

1 reference

12 August 2017

2

Kimiyo Raymond

1 reference

12 August 2017

5

Tim Wood

1 reference

12 August 2017

15

Angela E Scheuerle

1 reference

12 August 2017

Bobby G Ng

1

1 reference

12 August 2017

Jonathan T S Wong

10

1 reference

12 August 2017

Fabiola Paoli Monteiro

11

1 reference

12 August 2017

Sheryl Jackson

13

1 reference

12 August 2017

Rebecca Sparkes

14

1 reference

12 August 2017

Sara Cathey

16

1 reference

12 August 2017

Fernando Kok

17

1 reference

12 August 2017

James B Gibson

18

1 reference

12 August 2017

12 August 2015

1 reference

12 August 2017

1 reference

12 August 2017

36

1 reference

12 August 2017

11

1 reference

12 August 2017

1048-1051

1 reference

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

Understanding human glycosylation disorders: biochemistry leads the charge

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

Protein translocation across the ER membrane

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

Proteomic analysis of mammalian oligosaccharyltransferase reveals multiple subcomplexes that contain Sec61, TRAP, and two potential new subunits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

A tetrameric complex of membrane proteins in the endoplasmic reticulum

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

Structure of the mammalian oligosaccharyl-transferase complex in the native ER protein translocon

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4604052

TRAP assists membrane protein topogenesis at the mammalian ER membrane

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22856

Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26264460

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A posttargeting signal sequence recognition event in the endoplasmic reticulum membrane

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26264460

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22856

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

26264460

1 reference