(Q24296652)

GOA release 2020-03-11

ossification

1 reference

GOA release 2020-03-11

author

Valérie Cormier-Daire

11

0 references

Arnold Munnich

10

0 references

André Mégarbané

12

0 references

José-Mario Capo-Chichi

8

José-Mario Capo-Chichi

0 references

Nabil Kaci

Nabil Kaci

5

0 references

Jean-Pierre Desvignes

Jean-Pierre Desvignes

6

0 references

Laurence Legeai-Mallet

Laurence Legeai-Mallet

3

0 references

Valerie Delague

Valérie Delague

4

0 references

Zoha Kibar

7

Zoha Kibar

0 references

author name string

Cybel Mehawej

1

0 references

Agnès Delahodde

2

0 references

Eliane Chouery

Creative Commons Attribution 4.0 International

9

0 references

language of work or name

English

0 references

publication date

May 2014

0 references

published in

PLOS Genetics

0 references

volume

10

0 references

issue

5

0 references

page(s)

e1004311

0 references

copyright license

start time

1 May 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

19 March 2017

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Role of Magmas in protein transport and human mitochondria biogenesis

19 March 2017

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The mitochondrial protein translocation motor: structural conservation between the human and yeast Tim14/Pam18-Tim16/Pam16 co-chaperones

19 March 2017

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Fast and accurate short read alignment with Burrows-Wheeler transform

19 March 2017

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19 March 2017

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Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

19 March 2017

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Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

19 March 2017

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19 March 2017

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Functional characterization of the S. cerevisiae genome by gene deletion and parallel analysis

19 March 2017

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A simple salting out procedure for extracting DNA from human nucleated cells

19 March 2017

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19 March 2017

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Role of Pam16's degenerate J domain in protein import across the mitochondrial inner membrane

19 March 2017

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Pam16 has an essential role in the mitochondrial protein import motor

19 March 2017

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High efficiency transformation of intact yeast cells using single stranded nucleic acids as a carrier

19 March 2017

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RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

19 March 2017

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Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

19 March 2017

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Developmental Expression of Magmas in Murine Tissues and Its Co-expression with the GM-CSF Receptor

19 March 2017

1 reference

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

19 March 2017

1 reference

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 April 2017

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Importing mitochondrial proteins: machineries and mechanisms

7 April 2017

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Common principles of protein translocation across membranes

7 April 2017

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

7 April 2017

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In vitro mutagenesis and plasmid shuffling: from cloned gene to mutant yeast

7 April 2017

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Predicting the functional effect of amino acid substitutions and indels

7 April 2017

1 reference

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The yeast magmas ortholog pam16 has an essential function in fermentative growth that involves sphingolipid metabolism

27 September 2017

1 reference

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Essential role of Drosophila black-pearl is mediated by its effects on mitochondrial respiration

27 September 2017

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Comparison of solution-based exome capture methods for next generation sequencing

27 September 2017

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Comparison of mitochondrial and nucleolar RNase MRP reveals identical RNA components with distinct enzymatic activities and protein components

27 September 2017

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Genetic control of bone formation

27 September 2017

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Protein transport machineries for precursor translocation across the inner mitochondrial membrane

27 September 2017

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Interaction of the J-protein heterodimer Pam18/Pam16 of the mitochondrial import motor with the translocon of the inner membrane

27 September 2017

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Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein

27 September 2017

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27 September 2017

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Magmas gene structure and evolution

27 September 2017

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Identification and characterization of Magmas, a novel mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction

27 September 2017

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The genetic basis of the osteochondrodysplasias

27 September 2017

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Nosology and classification of genetic skeletal disorders: 2010 revision.

27 September 2017

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004311

Sib pair with previously unreported skeletal dysplasia.

21 January 2018

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Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004311

The black-pearl gene of Drosophila defines a novel conserved protein family and is required for larval growth and survival

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004311

Mitochondria-targeted green fluorescent proteins: convenient tools for the study of organelle biogenesis in Saccharomyces cerevisiae.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4006740

A second family with autosomal recessive spondylometaphyseal dysplasia and early death

29 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/24786642