NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. (Q52923556)

9 May 2018

title

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. (English)

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Carlo Rivolta

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Andrea Superti-Furga

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Andrea Superti-Furga

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Sheila Unger

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Sheila Unger

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9 May 2018

Luisa Bonafé

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Luisa Bonafé

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Belinda Campos-Xavier

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Belinda Campos-Xavier

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9 May 2018

author name string

Nuria Garcia Segarra

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Heather Crawford

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Matthieu Perreau

4

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Karin van Spaendonck-Zwarts

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Cees Vermeer

7

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Michel Russo

8

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Pierre-Yves Zambelli

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Brian Stevenson

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Beryl Royer-Bertrand

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Fabio Candotti

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Francis L Munier

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language of work or name

English

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publication date

19 August 2015

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9 May 2018

American Journal of Medical Genetics

published in

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volume

167A

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issue

12

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page(s)

2902-2912

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CCL20 mediates lipopolysaccharide induced liver injury and is a potential driver of inflammation and fibrosis in alcoholic hepatitis

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

The biology of innate lymphoid cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

Organic acids in the second morning urine in a healthy Swiss paediatric population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

The neuroblastoma amplified gene, NAG : genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

Exome sequencing identifies ZNF644 mutations in high myopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

Soluble interleukin-6 receptor-mediated innate immune response to DNA and RNA viruses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37338

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37338

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9 May 2018

PubMed ID

26286438

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9 May 2018