Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia (Q34338736)

1 August 2017

title

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia (English)

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isolated congenital asplenia

1 August 2017

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13

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15

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Jean-Laurent Casanova

32

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1 August 2017

Etienne Patin

9

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Laurent Abel

Laurent Abel

14

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Saul N Faust

Saul N Faust

16

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Nizar Mahlaoui

Nizar Mahlaoui

2

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Minji Byun

Minji Byun

3

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Lennart Hammarström

29

Lennart Hammarstrom

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1 August 2017

21

Andrew J Pollard

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Licia Selleri

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Avinash Abhyankar

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Alessandro Plebani

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Yuval Itan

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1 August 2017

Alexandre Bolze

1

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Bridget Turner

4

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Nikolaus Trede

5

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Steven R Ellis

6

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Samuel Brebner

10

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1 August 2017

Paul Sackstein

11

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Anthony P Williams

17

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Richard Baretto

18

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Michael Duddridge

19

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Usha Kini

20

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Catherine Gaud

22

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Pierre Frange

23

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Daniel Orbach

24

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Jean-Francois Emile

25

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1 August 2017

Jean-Louis Stephan

26

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1 August 2017

Ricardo Sorensen

27

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1 August 2017

Mary Ellen Conley

30

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1 August 2017

language of work or name

English

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publication date

11 April 2013

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1 August 2017

number of pages

3

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based on heuristic

inferred from page(s)

published in

Science

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1 August 2017

volume

340

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1 August 2017

issue

6135

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1 August 2017

page(s)

976-978

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High-resolution cryo-electron microscopy structure of the Trypanosoma brucei ribosome

1 August 2017

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module

6 July 2018

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The structure of the eukaryotic ribosome at 3.0 Å resolution

6 July 2018

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6 July 2018

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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

6 July 2018

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6 July 2018

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Whole-exome-sequencing-based discovery of human FADD deficiency

6 July 2018

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Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

6 July 2018

1 reference

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Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases

6 July 2018

1 reference

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Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits

6 July 2018

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 July 2018

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Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

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Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders

6 July 2018

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Familial isolated congenital asplenia: case report and literature review

6 July 2018

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The Sequence Alignment/Map format and SAMtools

6 July 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

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Comparative analysis of processed ribosomal protein pseudogenes in four mammalian genomes

6 July 2018

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Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

6 July 2018

1 reference

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Unusual manifestations of myelofibrosis in a patient with congenital asplenia

6 July 2018

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Primary immunodeficiencies: a field in its infancy

6 July 2018

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Development and function of the mammalian spleen.

6 July 2018

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Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

6 July 2018

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6 July 2018

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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

6 July 2018

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6 July 2018

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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

6 July 2018

1 reference

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6 July 2018

1 reference

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Persistent thrombocytosis in elderly patients with rare hyposplenias that mimic essential thrombocythemia.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCIENCE.1234864

Recurrent bacterial meningitis by three different pathogens in an isolated asplenic child.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCIENCE.1234864

Extraribosomal functions associated with the C terminus of the 37/67 kDa laminin receptor are required for maintaining cell viability

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCIENCE.1234864

[Congenital asplenia. A childhood immune deficit often detected too late]

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23579497

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital absence of the spleen in an adult; report of a case associated with recurrent Waterhouse-Friderichsen syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23579497

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCIENCE.1234864

1 reference

1 August 2017

1 reference

1 August 2017

1 reference