(Q34891147)

5 August 2017

title

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. (English)

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5 August 2017

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GOA release 2020-03-11

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Markus T Rojewski

8

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Claudia Friesen

4

object named as

Claudia Friesen

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5 August 2017

Ulrich Pannicke

1

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Manfred Hönig

2

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5 August 2017

Isabell Hess

3

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5 August 2017

Karlheinz Holzmann

5

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Eva-Maria Rump

6

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5 August 2017

Thomas F Barth

7

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Ansgar Schulz

9

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5 August 2017

Thomas Boehm

10

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Wilhelm Friedrich

11

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Klaus Schwarz

12

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5 August 2017

language of work or name

English

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publication date

30 November 2008

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5 August 2017

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5 August 2017

volume

41

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5 August 2017

issue

1

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5 August 2017

page(s)

101-105

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https://scigraph.springernature.com/pub.10.1038/ng.265

5 August 2017

exact match

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cites work

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

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Congenital immunodeficiency and agranulocytosis (reticular dysgenesia)

21 January 2018

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Severe combined immunodeficiency with leukopenia (reticular dysgenesis) in siblings: immunologic and histopathologic findings

21 January 2018

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Mitochondrial respiratory-chain diseases

21 January 2018

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Mouse models for mitochondrial disease

21 January 2018

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Phosphotransfer networks and cellular energetics

21 January 2018

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Structure of a mutant adenylate kinase ligated with an ATP-analogue showing domain closure over ATP

21 January 2018

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Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness.

21 January 2018

1 reference

Intracellular nucleotides act as critical prosurvival factors by binding to cytochrome C and inhibiting apoptosome

21 January 2018

1 reference

Structure of the apoptotic protease-activating factor 1 bound to ADP

21 January 2018

1 reference

What causes mitochondrial DNA deletions in human cells?

21 January 2018

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Visualization of genomic aberrations using Affymetrix SNP arrays

21 January 2018

1 reference

Cloning of the zebrafish krox-20 gene (krx-20) and its expression during hindbrain development

21 January 2018

1 reference

Conserved functions of Ikaros in vertebrate lymphocyte development: genetic evidence for distinct larval and adult phases of T cell development and two lineages of B cells in zebrafish

21 January 2018

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A critical role of glutathione in determining apoptosis sensitivity and resistance in leukemia cells

21 January 2018

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THYMIC ALYMPHOPLASIA AND CONGENITAL ALEUKOCYTOSIS

21 January 2018

1 reference

12 December 2020

Epidermal langerhans' cells in children with primary t-cell immune deficiencies

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12 December 2020

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12 December 2020

Reticular dysgenesis: report of two brothers

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12 December 2020

Thymic alymphoplasia and congenital aleukocytosis (reticular dysgenesia)

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12 December 2020

Identifiers

DOI

10.1038/NG.265

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Dimensions Publication ID

5 August 2017

1051641806

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1 reference