Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect (Q30577686)

11 September 2017

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect (English)

1 reference

11 September 2017

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7

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11 September 2017

9

Joel N Hirschhorn

1 reference

11 September 2017

Andrew Dauber

1

1 reference

11 September 2017

Altan Ercan

2

1 reference

11 September 2017

Jack Lee

3

1 reference

11 September 2017

Philip James

4

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11 September 2017

Pieter P Jacobs

5

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11 September 2017

David J Ashline

6

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11 September 2017

Timothy Miller

8

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11 September 2017

Peter A Nigrovic

10

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11 September 2017

Robert Sackstein

11

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11 September 2017

8 January 2014

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11 September 2017

Human Molecular Genetics

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11 September 2017

23

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11 September 2017

11

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11 September 2017

2880-2887

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Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Comparing MALDI-MS, RP-LC-MALDI-MS and RP-LC-ESI-MS glycomic profiles of permethylated N-glycans derived from model glycoproteins and human blood serum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Multiple juvenile idiopathic arthritis subtypes demonstrate proinflammatory IgG glycosylation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Developmental diseases caused by impaired nucleotide sugar transporters

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

High throughput isolation and glycosylation analysis of IgG-variability and heritability of the IgG glycome in three isolated human populations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Alpha1,6-fucosyltransferase-deficient mice exhibit multiple behavioral abnormalities associated with a schizophrenia-like phenotype: importance of the balance between the dopamine and serotonin systems.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

A map of human genome variation from population-scale sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Terminal sugars of Fc glycans influence antibody effector functions of IgGs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Carbohydrate structural isomers analyzed by sequential mass spectrometry

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Dynamic developmental elaboration of N-linked glycan complexity in the Drosophila melanogaster embryo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Characterisation of insulin-like growth factor receptors and insulin receptors in the human placenta using lectin affinity methods

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Protein fucosylation regulates synapsin Ia/Ib expression and neuronal morphology in primary hippocampal neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Core fucosylation regulates epidermal growth factor receptor-mediated intracellular signaling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

The lymphocyte homing receptors: gatekeepers of the multistep paradigm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Leukocyte adhesion deficiency II-from A to almost Z.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Mevalonic acid is limiting for N-linked glycosylation and translocation of the insulin-like growth factor-1 receptor to the cell surface. Evidence for a new link between 3-hydroxy-3-methylglutaryl-coenzyme a reductase and cell growth

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Alteration in N-glycomics during mouse aging: a role for FUT8.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

HPLC-based analysis of serum N-glycans on a 96-well plate platform with dedicated database software.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014190

Fucose supplementation in leukocyte adhesion deficiency type II

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24403049

12 December 2020

inferred from PubMed ID database lookup

Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24403049

12 December 2020

inferred from PubMed ID database lookup

A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24403049

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDU001

1 reference

release_owmld7k4abc6fhhrd6cda4j5cm

11 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/owmld7k4abc6fhhrd6cda4j5cm

24 November 2022

mapped directly with Wikidata item

1 reference

11 September 2017

PubMed publication ID

24403049

1 reference