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

5 August 2017

title

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

16

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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

published in

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5 August 2017

volume

84

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5 August 2017

issue

6

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5 August 2017

page(s)

728-739

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Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

5 August 2017

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

8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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GROWTH AND INBREEDING OF A HUMAN ISOLATE

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26 October 2018

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12 December 2020

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

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12 December 2020

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

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12 December 2020

[Hutterite syndrome, Bowen-Conradi type]

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12 December 2020

Bowen-Conradi syndrome: a clinical and genetic study

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12 December 2020

Hypospadias as a new congenital anomaly in Bowen-Conradi syndrome

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12 December 2020

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

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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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