(Q33908939)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10888890%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10888890%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

0 references

1 reference

1

1 reference

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8 November 2019

author name string

Kestilä M

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10888890%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Wu J

3

1 reference

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8 November 2019

Salminen A

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10888890%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Böhling T

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10888890%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Ruotsalainen V

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10888890%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Hakola P

7

1 reference

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8 November 2019

Bakker AB

8

1 reference

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8 November 2019

Phillips JH

9

1 reference

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8 November 2019

Pekkarinen P

10

1 reference

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8 November 2019

Lanier LL

11

1 reference

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8 November 2019

Timonen T

12

1 reference

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8 November 2019

Peltonen L

13

1 reference

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8 November 2019

language of work or name

English

0 references

publication date

1 July 2000

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8 November 2019

1 reference

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8 November 2019

volume

25

1 reference

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8 November 2019

page(s)

357-361

1 reference

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8 November 2019

issue

3

1 reference

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https://scigraph.springernature.com/pub.10.1038/77153

8 November 2019

exact match

0 references

cites work

Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia

1 reference

7 January 2021

Molecular genetics of the Finnish disease heritage.

1 reference

7 January 2021

Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

1 reference

7 January 2021

Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.

1 reference

7 January 2021

Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells

1 reference

7 January 2021

Unmasking the killer's accomplice

1 reference

7 January 2021

DAP12: a key accessory protein for relaying signals by natural killer cell receptors

1 reference

7 January 2021

Structure of the human amyloid-precursor-like protein gene APLP1 at 19q13.1

1 reference

7 January 2021

An activating immunoreceptor complex formed by NKG2D and DAP10

1 reference

7 January 2021

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

1 reference

7 January 2021

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogical study of Swedish families of probable Finnish background

1 reference

7 January 2021

DAP12-mediated signal transduction in natural killer cells. A dominant role for the Syk protein-tyrosine kinase

1 reference

7 January 2021

Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells

1 reference

7 January 2021

Association of DAP12 with activating CD94/NKG2C NK cell receptors

1 reference

7 January 2021

Lipomembranous osteodysplasia: a case report

1 reference

7 January 2021

Cutting edge: signal-regulatory protein beta 1 is a DAP12-associated activating receptor expressed in myeloid cells

1 reference

7 January 2021

Natural killer cells and recognition of MHC class I molecules: new perspectives and challenges in immunology

1 reference

7 January 2021

The origin and differentiation of microglial cells during development

1 reference

7 January 2021

Cytokines, growth factors and osteoclasts

1 reference

7 January 2021

Genotator: a workbench for sequence annotation

1 reference

7 January 2021

Prediction of complete gene structures in human genomic DNA

1 reference

7 January 2021

Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.

1 reference

7 January 2021

Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy).

1 reference

7 January 2021

Identifiers

DOI

10.1038/77153

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10888890%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference