Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome (Q34982627)

5 August 2017

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome (English)

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5 August 2017

Brian L Mark

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Barbara Triggs-Raine

object named as

Barbara Triggs-Raine

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author name string

Joy Armistead

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5 August 2017

Sunita Khatkar

2

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5 August 2017

Britta Meyer

3

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5 August 2017

Nehal Patel

5

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5 August 2017

Gail Coghlan

6

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5 August 2017

Ryan E Lamont

7

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5 August 2017

Shuangbo Liu

8

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5 August 2017

Jill Wiechert

9

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5 August 2017

Peter A Cattini

10

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5 August 2017

Peter Koetter

11

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5 August 2017

Klaus Wrogemann

12

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5 August 2017

Cheryl R Greenberg

13

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5 August 2017

Karl-Dieter Entian

14

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5 August 2017

Teresa Zelinski

15

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5 August 2017

language of work or name

English

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publication date

21 May 2009

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American Journal of Human Genetics

5 August 2017

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5 August 2017

84

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5 August 2017

728-739

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5 August 2017

6

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Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

RPS19 mutations in patients with Diamond-Blackfan anemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

The crystal structure of Nep1 reveals an extended SPOUT-class methyltransferase fold and a pre-organized SAM-binding site

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

The yeast ribosome synthesis factor Emg1 is a novel member of the superfamily of alpha/beta knot fold methyltransferases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Structural and evolutionary bioinformatics of the SPOUT superfamily of methyltransferases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Ribosome biogenesis is sensed at the Start cell cycle checkpoint

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Genetic evidence for 18S rRNA binding and an Rps19p assembly function of yeast nucleolar protein Nep1p

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Ribosomes and marrow failure: coincidental association or molecular paradigm?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

The SWISS-MODEL Repository: new features and functionalities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

The small-subunit processome is a ribosome assembly intermediate

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Ribosome synthesis meets the cell cycle

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

The small subunit processome is required for cell cycle progression at G1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Ribosome assembly in eukaryotes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Novel stress-responsive genes EMG1 and NOP14 encode conserved, interacting proteins required for 40S ribosome biogenesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

DaliLite workbench for protein structure comparison

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

An improved, rapid Northern protocol.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Genomic libraries and a host strain designed for highly efficient two-hybrid selection in yeast

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Complete phenotypic characterization of apobec-1 knockout mice with a wild-type genetic background and a human apolipoprotein B transgenic background, and restoration of apolipoprotein B mRNA editing by somatic gene transfer of Apobec-1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Errors in protein structures

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

History and relevance of the Hutterite population for genetic studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Basic local alignment search tool

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

The effect of temperature and oligonucleotide primer length on the specificity and efficiency of amplification by the polymerase chain reaction.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. 1979.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Treacher Collins syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

GROWTH AND INBREEDING OF A HUMAN ISOLATE

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694972

Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs

26 October 2018

1 reference

12 December 2020

[A newborn infant with the Bowen-Conradi syndrome; a fatal hereditary disorder]

1 reference

12 December 2020

Bowen-Conradi syndrome in an Indian infant: first non Hutterite case

1 reference

12 December 2020

[Hutterite syndrome, Bowen-Conradi type]

1 reference

12 December 2020

Bowen-Conradi syndrome: a clinical and genetic study

1 reference

12 December 2020

Hypospadias as a new congenital anomaly in Bowen-Conradi syndrome

1 reference

12 December 2020

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3

1 reference

12 December 2020

10.1016/J.AJHG.2009.04.017

Identifiers

DOI

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5 August 2017

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5 August 2017

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