(Q34894388)

English

A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21367925%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

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A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21367925%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1

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24 January 2020

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Pia Hermanns

2

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24 January 2020

Claudia Nestoris

3

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24 January 2020

Sabine Heger

4

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24 January 2020

Samuel Refetoff

5

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24 January 2020

Joachim Pohlenz

6

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24 January 2020

Helmut Grasberger

7

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24 January 2020

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2 March 2011

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24 January 2020

The Journal of Clinical Endocrinology and Metabolism

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24 January 2020

96

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24 January 2020

5

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24 January 2020

E841-5

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24 January 2020

Duox maturation factors form cell surface complexes with Duox affecting the specificity of reactive oxygen species generation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

8 July 2018

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

8 July 2018

Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

8 July 2018

Spatial smoothing and hot spot detection for CGH data using the fused lasso

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

8 July 2018

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

8 July 2018

A statistical approach for array CGH data analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

8 July 2018

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

8 July 2018

Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

8 July 2018

Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cdnas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

8 July 2018

The H2O2-generating system modulates protein iodination and the activity of the pentose phosphate pathway in dog thyroid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

8 July 2018

Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

26 October 2018

Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

26 October 2018

Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

26 October 2018

Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

26 October 2018

Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

26 October 2018

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085204

26 October 2018

Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/21367925

12 December 2020

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10.1210/JC.2010-2321

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21367925%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

PMC publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21367925%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21367925%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

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