(Q37592288)

21 August 2017

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation (English)

1 reference

21 August 2017

16

Peter N Robinson

0 references

Stefan Mundlos

14

Stefan Mundlos

1 reference

21 August 2017

Peter M Krawitz

21

0 references

David Keays

David A Keays

7

0 references

Usha Kini

17

Usha Kini

1 reference

21 August 2017

Alistair T Pagnamenta

3

Alistair T Pagnamenta

1 reference

21 August 2017

19

Denise Horn

1 reference

21 August 2017

Malcolm F Howard

1

1 reference

21 August 2017

Yoshiko Murakami

2

1 reference

21 August 2017

Cornelia Daumer-Haas

4

1 reference

21 August 2017

Björn Fischer

5

1 reference

21 August 2017

Jochen Hecht

6

1 reference

21 August 2017

Samantha J L Knight

8

1 reference

21 August 2017

Uwe Kölsch

9

1 reference

21 August 2017

Ulrike Krüger

10

1 reference

21 August 2017

Steffen Leiz

11

1 reference

21 August 2017

Yusuke Maeda

12

1 reference

21 August 2017

Daphne Mitchell

13

1 reference

21 August 2017

John A Phillips

15

1 reference

21 August 2017

Jenny C Taylor

18

1 reference

21 August 2017

Taroh Kinoshita

20

1 reference

21 August 2017

language of work or name

English

0 references

publication date

16 January 2014

1 reference

American Journal of Human Genetics

21 August 2017

1 reference

21 August 2017

94

1 reference

21 August 2017

2

1 reference

21 August 2017

278-287

1 reference

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Significance of glycosylphosphatidylinositol-anchored protein enrichment in lipid rafts for the control of autoimmunity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

GDE2 promotes neurogenesis by glycosylphosphatidylinositol-anchor cleavage of RECK

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Fatty acid remodeling of GPI-anchored proteins is required for their raft association

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Enhanced response of T lymphocytes from Pgap3 knockout mouse: Insight into roles of fatty acid remodeling of GPI anchored proteins.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

Developmental abnormalities of glycosylphosphatidylinositol-anchor-deficient embryos revealed by Cre/loxP system.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928656

The glycosylation of the complement regulatory protein, human erythrocyte CD59

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24439110

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.12.012

1 reference

21 August 2017

1 reference

21 August 2017

1 reference