(Q54562818)

English

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

scientific article published on 20 November 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

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

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

neurodegeneration

1 reference

based on heuristic

inferred from title

ferro-cerebro-cutaneous syndrome

1 reference

based on heuristic

inferred from title

Kathryn J Swoboda

1

object named as

Kathryn J Swoboda

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

John Marius Opitz

12

object named as

John M Opitz

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

author name string

Rebecca L Margraf

2

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

John C Carey

3

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

Holly Zhou

4

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

Tara M Newcomb

5

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

Emily Coonrod

6

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

Jacob Durtschi

7

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

Kalyan Mallempati

8

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

Attila Kumanovics

9

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

Ben E Katz

10

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

Karl V Voelkerding

11

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

language of work or name

0 references

publication date

20 November 2013

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

164A

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

1

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

17-28

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

Molecular diagnostic and pathogenesis of hereditary hemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

Control of systemic iron homeostasis by the hemojuvelin-hepcidin axis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

GPI-anchored proteins at the node of Ranvier.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

The epidermal barrier function is dependent on the serine protease CAP1/Prss8

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

X inactivation and somatic cell selection rescue female mice carrying a Piga-null mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

GPI-anchor synthesis in mammalian cells: genes, their products, and a deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

Familial hyperphosphatasia with mental retardation, seizures, and neurologic deficits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

4 June 2018

French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

13 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

13 August 2018

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

13 August 2018

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

13 August 2018

Epidermal-specific defect of GPI anchor in Pig-a null mice results in Harlequin ichthyosis-like features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4349522

13 August 2018

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population

1 reference

https://pubmed.ncbi.nlm.nih.gov/24259288

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/24259288

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Targeted therapy for inherited GPI deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/24259288

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.36189

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

1 June 2018

http://europepmc.org/abstract/PMC/4349522

ResearchGate publication ID

0 references

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