(Q41607564)

5 October 2017

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome (English)

1 reference

5 October 2017

13

Peter N Robinson

0 references

Stefan Mundlos

14

object named as

Stefan Mundlos

1 reference

5 October 2017

Peter M Krawitz

19

0 references

Arnold Munnich

16

object named as

Arnold Munnich

1 reference

5 October 2017

18

Denise Horn

1 reference

5 October 2017

Alexej Knaus

1

1 reference

5 October 2017

Tomonari Awaya

2

1 reference

5 October 2017

Ingo Helbig

3

1 reference

5 October 2017

Zaid Afawi

4

1 reference

5 October 2017

Manuela Pendziwiat

5

1 reference

5 October 2017

Jubran Abu-Rachma

6

1 reference

5 October 2017

Miles D Thompson

7

1 reference

5 October 2017

David E Cole

8

1 reference

5 October 2017

Steve Skinner

9

1 reference

5 October 2017

Fran Annese

10

1 reference

5 October 2017

Natalie Canham

11

1 reference

5 October 2017

Michal R Schweiger

12

1 reference

5 October 2017

Taroh Kinoshita

15

1 reference

5 October 2017

Yoshiko Murakami

17

1 reference

5 October 2017

27 April 2016

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5 October 2017

1 reference

5 October 2017

37

1 reference

5 October 2017

8

1 reference

5 October 2017

737-744

1 reference

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

5 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

CREST--a large and diverse superfamily of putative transmembrane hydrolases

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

Tissue-specific knockout of the mouse Pig-a gene reveals important roles for GPI-anchored proteins in skin development.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

Familial hyperphosphatasia with mental retardation, seizures, and neurologic deficits

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5084765

19 August 2018

Identifiers

DOI

10.1002/HUMU.23006

1 reference

5 October 2017

1 reference

5 October 2017

1 reference