(Q24626901)

1

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F Blaeser

2

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N Ho

3

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H M Lederman

4

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C Voulgaropoulos

5

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C Helms

6

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A M Bowcock

Journal of Clinical Investigation

7

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language of work or name

English

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publication date

December 2000

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published in

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volume

106

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page(s)

R75-81

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issue

12

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cites work

X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

Positional cloning of the APECED gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

Cellular and molecular characterization of the scurfy mouse mutant

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

Human N-myc is closely related in organization and nucleotide sequence to c-myc

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

7 April 2017

Winged helix proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

Lineage commitment in the immune system: the T helper lymphocyte grows up.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

The absence of the transcription activator TFE3 impairs activation of B cells in vivo

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

Five years on the wings of fork head

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

X-linked lymphoreticular disease in the scurfy (sf) mutant mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

The N-Myc oncoprotein is associated in vivo with the phosphoprotein Max(p20/22) in human neuroblastoma cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=387260

Congenital autoimmune diabetes mellitus

28 November 2018

1 reference

12 December 2020

A transcript map of a 2-Mb BAC contig in the proximal portion of the mouse X chromosome and regional mapping of the scurfy mutation

1 reference

12 December 2020

Complement deficiencies

1 reference

12 December 2020

DNA binding by N- and L-Myc proteins

1 reference

12 December 2020

A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy

1 reference

12 December 2020

The mouse scurfy (sf) mutation is tightly linked to Gata1 and Tfe3 on the proximal X chromosome

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI11679

1 reference

3634446

3634446

1 reference

1 reference

1 reference