The genotypic and phenotypic spectrum of PIGA deficiency (Q30935460)

13 October 2017

The genotypic and phenotypic spectrum of PIGA deficiency (English)

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13 October 2017

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13 October 2017

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Casper Shyr

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Andrea Rossi

object named as

Andrea Rossi

Sylvia Stockler-Ipsiroglu

14

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3

object named as

Sylvia Stockler-Ipsiroglu

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13 October 2017

Margot Van Allen

4

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13 October 2017

Jacob Rozmus

5

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13 October 2017

Casper Shyr

6

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13 October 2017

Roberta Biancheri

7

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13 October 2017

Tracey Oh

8

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13 October 2017

Bryan Sayson

9

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13 October 2017

Mirafe Lafek

10

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13 October 2017

Wendy P Robinson

12

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13 October 2017

Clara D M van Karnebeek

15

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13 October 2017

27 February 2015

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Orphanet Journal of Rare Diseases

13 October 2017

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13 October 2017

10

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Creative Commons Attribution 4.0 International

13 October 2017

start time

27 February 2015

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

FLAGS, frequently mutated genes in public exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

A general framework for estimating the relative pathogenicity of human genetic variants

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Magnetic resonance spectroscopy in metabolic disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Predicting functional effect of human missense mutations using PolyPhen-2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Proteomic identification of glycosylphosphatidylinositol anchor-dependent membrane proteins elevated in breast carcinoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

A method and server for predicting damaging missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

How I treat paroxysmal nocturnal hemoglobinuria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Narrative review: paroxysmal nocturnal hemoglobinuria: the physiology of complement-related hemolytic anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Trophoblast differentiation defect in human embryonic stem cells lacking PIG-A and GPI-anchored cell-surface proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Paroxysmal nocturnal hemoglobinuria: insights from recent advances in molecular biology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

UAG readthrough in mammalian cells: effect of upstream and downstream stop codon contexts reveal different signals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

T-Coffee: A novel method for fast and accurate multiple sequence alignment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

A knock-out model of paroxysmal nocturnal hemoglobinuria: Pig-a(-) hematopoiesis is reconstituted following intercellular transfer of GPI-anchored proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Translational termination efficiency in both bacteria and mammals is regulated by the base following the stop codon

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Glycosylphosphatidylinositol-anchor-deficient mice: implications for clonal dominance of mutant cells in paroxysmal nocturnal hemoglobinuria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Translational termination efficiency in mammals is influenced by the base following the stop codon.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

GPI-anchor deficiency in myeloid cells causes impaired FcgammaR effector functions

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0243-8

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0243-8

PGAP1 knock-out mice show otocephaly and male infertility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0243-8

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0243-8

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0243-8

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0243-8

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0243-8

Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0243-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0243-8

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348372

MRI in acute intermittent maple syrup urine disease

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25885527

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25885527

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-015-0243-8

1 reference

Dimensions Publication ID

13 October 2017

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s13023-015-0243-8

1 reference

13 October 2017

PubMed publication ID

25885527

1 reference