(Q36780978)

16 August 2017

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels (English)

1 reference

16 August 2017

1 reference

Bernhard Fleckenstein

28

Bernhard Fleckenstein

1 reference

16 August 2017

38

Sellama Nadifi

1 reference

16 August 2017

34

Philipp Henneke

1 reference

16 August 2017

45

Bodo Grimbacher

1 reference

16 August 2017

Manuela O Gustafsson

20

0 references

Ekrem Unal

Ekrem Unal

8

0 references

Anne Dell

Anne Dell

43

0 references

Alejandro A Schäffer

41

Alejandro A Schäffer

1 reference

16 August 2017

Atfa Sassi

1

1 reference

16 August 2017

Sandra Lazaroski

2

1 reference

16 August 2017

Gang Wu

3

1 reference

16 August 2017

Stuart M Haslam

4

1 reference

16 August 2017

Manfred Fliegauf

5

1 reference

16 August 2017

Fethi Mellouli

6

1 reference

16 August 2017

Turkan Patiroglu

7

1 reference

16 August 2017

Mehmet Akif Ozdemir

9

1 reference

16 August 2017

Zineb Jouhadi

10

1 reference

16 August 2017

Khadija Khadir

11

1 reference

16 August 2017

Leila Ben-Khemis

12

1 reference

16 August 2017

Meriem Ben-Ali

13

1 reference

16 August 2017

Imen Ben-Mustapha

14

1 reference

16 August 2017

Lamia Borchani

15

1 reference

16 August 2017

Dietmar Pfeifer

16

1 reference

16 August 2017

Thilo Jakob

17

1 reference

16 August 2017

Monia Khemiri

18

1 reference

16 August 2017

A Charlotta Asplund

19

1 reference

16 August 2017

Karin E Lundin

21

1 reference

16 August 2017

Elin Falk-Sörqvist

22

1 reference

16 August 2017

Lotte N Moens

23

1 reference

16 August 2017

Hatice Eke Gungor

24

1 reference

16 August 2017

Karin R Engelhardt

25

1 reference

16 August 2017

Magdalena Dziadzio

26

1 reference

16 August 2017

Hans Stauss

27

1 reference

16 August 2017

Rebecca Meier

29

1 reference

16 August 2017

Khairunnadiya Prayitno

30

1 reference

16 August 2017

Andrea Maul-Pavicic

31

1 reference

16 August 2017

Sandra Schaffer

32

1 reference

16 August 2017

Mirzokhid Rakhmanov

33

1 reference

16 August 2017

Helene Kraus

35

1 reference

16 August 2017

Hermann Eibel

36

1 reference

16 August 2017

Uwe Kölsch

37

1 reference

16 August 2017

Mats Nilsson

39

1 reference

16 August 2017

Mohamed Bejaoui

40

1 reference

16 August 2017

C I Edvard Smith

42

1 reference

16 August 2017

Mohamed-Ridha Barbouche

44

1 reference

16 August 2017

language of work or name

English

0 references

publication date

1 April 2014

1 reference

The Journal of Allergy and Clinical Immunology

16 August 2017

1 reference

16 August 2017

133

1 reference

16 August 2017

5

1 reference

16 August 2017

1410-9, 1419.e1-13

1 reference

Glycobiology of immune responses

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Targeted resequencing of candidate genes using selector probes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Metabolism, cell surface organization, and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Combined immunodeficiency associated with DOCK8 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

CDG nomenclature: time for a change!

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

A syndrome with congenital neutropenia and mutations in G6PC3

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Glycosylation diseases: quo vadis?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Structural characterisation of neutrophil glycans by ultra sensitive mass spectrometric glycomics methodology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Immunological and genetic bases of new primary immunodeficiencies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

STAT3 mutations in the hyper-IgE syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Primary immunodeficiencies: a field in its infancy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Congenital disorders of glycosylation: a rapidly expanding disease family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

The impact of glycosylation on the biological function and structure of human immunoglobulins.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Human non-synonymous SNPs: server and survey

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

The molecular basis of type 1 glycogen storage diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Accounting for human polymorphisms predicted to affect protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Incompletely processed N-glycans of serum glycoproteins in congenital dyserythropoietic anaemia type II (HEMPAS)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

A third phosphoglucomutase locus in man.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

[Familial form of the Buckley syndrome with anomalies of cellular immunity]

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4825677

Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24698316

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Primary immunodeficiencies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24698316

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Isolation and characterization of IgG1 with asymmetrical Fc glycosylation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24698316

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2014.02.025

1 reference

16 August 2017

1 reference

16 August 2017

1 reference