A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. (Q44477174)

3 December 2017

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

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disability affecting intellectual abilities

3 December 2017

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intellectual disability

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based on heuristic

inferred from title

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3

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9

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13

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3 December 2017

Magnus Nordenskjöld

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author name string

Malin Kvarnung

1

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3 December 2017

G Christoph Korenke

4

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3 December 2017

Samuel C C Chiang

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3 December 2017

Elisabeth Blennow

6

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3 December 2017

Markus Bergmann

7

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3 December 2017

Tommy Stödberg

8

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3 December 2017

Britt-Marie Anderlid

10

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3 December 2017

language of work or name

English

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publication date

1 May 2013

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Journal of Medical Genetics

3 December 2017

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3 December 2017

50

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3 December 2017

8

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3 December 2017

521-528

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

3 December 2017

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

The Sequence Alignment/Map format and SAMtools

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

A map of human genome variation from population-scale sequencing

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

A method and server for predicting damaging missense mutations

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Database resources of the National Center for Biotechnology Information

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

An integrated map of genetic variation from 1,092 human genomes

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Structural remodeling, trafficking and functions of glycosylphosphatidylinositol-anchored proteins

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Structural remodeling of GPI anchors during biosynthesis and after attachment to proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Functional characterization of osteoblasts and osteoclasts from alkaline phosphatase knockout mice

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

Reorganizing the protein space at the Universal Protein Resource (UniProt)

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101654

10.1136/JMEDGENET-2013-101654

21 January 2018

Identifiers

DOI

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3 December 2017

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