(Q21260362)

19 August 2022

Robert Kleta

2

Robert

Kleta

1 reference

19 August 2022

Rafael C Caruso

3

Rafael C

Caruso

1 reference

19 August 2022

Caroline Stuart

4

Caroline

Stuart

1 reference

19 August 2022

Jonathan Ludlow

5

Jonathan

Ludlow

1 reference

19 August 2022

Constantine A Stratakis

6

Constantine A

Stratakis

1 reference

The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome

19 August 2022

language of work or name

English

0 references

publication date

2004

0 references

published in

BMC Ophthalmology

0 references

volume

4

0 references

issue

1

0 references

page(s)

7

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Proteomic analysis of the mammalian nuclear pore complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Triple A syndrome: genotype–phenotype assessment

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Mutant WD-repeat protein in triple-A syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

The WD repeat: a common architecture for diverse functions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

congenital alacrima in familial autonomic dysfunction

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Keratoconjunctivitis sicca associated with achalasia of the cardia, adrenocortical insufficiency, and lacrimal gland degeneration: Keratoconjunctivitis sicca secondary to lacrimal gland degeneration may parallel degenerative changes in esophageal an

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Changes in nerve terminals and acini of the lacrimal gland and changes in secretion induced by autonomic denervation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

A syndrome of alacrima, achalasia, and neurologic anomalies without adrenocortical insufficiency

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=459227

Clinical and genetic characterization of families with triple A (Allgrove) syndrome

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-4-7

New insights into the molecular basis of the triple A syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-4-7

Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-4-7

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-4-7

Chromosomal fragility in patients with triple A syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-4-7

Ophthalmic manifestations of Allgrove syndrome: report of a case

21 January 2018

1 reference

12 December 2020

Analysis of the AAAS gene in a Japanese patient with triple A syndrome

1 reference

12 December 2020

Autonomic dysfunction and adrenocortical unresponsiveness to ACTH

1 reference

12 December 2020

Demonstration of nerve fibers in human accessory lacrimal glands

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2415-4-7

0 references

https://scigraph.springernature.com/pub.10.1186/1471-2415-4-7

1 reference

9 September 2019

Fatcat ID

release_f75mpa34bjcuvlh34tg6d526ha

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/f75mpa34bjcuvlh34tg6d526ha

24 November 2022