Evolutionary comparison provides evidence for pathogenicity of RMRP mutations (Q21145279)

5 July 2017

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations (English)

1 reference

5 July 2017

Stilianos Antonarakis

series ordinal

8

object named as

Stylianos E Antonarakis

author given names

Stylianos E

author last names

Antonarakis

1 reference

5 July 2017

7

Catherine Ucla

Catherine

Ucla

1 reference

17 August 2022

9

Andrea Superti-Furga

Andrea

Superti-Furga

1 reference

17 August 2022

10

Alexandre Reymond

Alexandre

Reymond

1 reference

5 July 2017

Sheila Unger

3

Sheila

Unger

1 reference

17 August 2022

Emmanouil Dermitzakis

2

Emmanouil T

Dermitzakis

Emmanouil T Dermitzakis

1 reference

5 July 2017

1

Luisa

Bonafé

Luisa Bonafé

1 reference

5 July 2017

Belinda Campos-Xavier

5

Belinda A

Campos-Xavier

Belinda A Campos-Xavier

1 reference

5 July 2017

Cheryl R Greenberg

4

Cheryl R

Greenberg

1 reference

5 July 2017

Andreas Zankl

series ordinal

6

author given names

Andreas

author last names

Zankl

1 reference

5 July 2017

language of work or name

English

0 references

publication date

1 October 2005

1 reference

5 July 2017

1 reference

5 July 2017

1

1 reference

5 July 2017

4

1 reference

5 July 2017

e47

1 reference

Creative Commons Attribution 4.0 International

5 July 2017

start time

21 October 2005

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Basic domains target protein subunits of the RNase MRP complex to the nucleolus independently of complex association

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

RNA-protein interactions in the human RNase MRP ribonucleoprotein complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

19 March 2017

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.0010047

7 January 2021

inferred from DOI database lookup

Mutagenesis of SNM1, which encodes a protein component of the yeast RNase MRP, reveals a role for this ribonucleoprotein endoribonuclease in plasmid segregation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Resolution of the early placental mammal radiation using Bayesian phylogenetics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Characterization of human MRP/Th RNA and its nuclear gene: full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Function and synthesis of small nucleolar RNAs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Skeletal dysplasia, growth hormone treatment and body proportion: comparison with other syndromic and non-syndromic short children

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Mutations in SBDS are associated with Shwachman-Diamond syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Architecture and function of the human endonucleases RNase P and RNase MRP.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

The RNA of RNase MRP is required for normal processing of ribosomal RNA.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

A nuclear function for RNase MRP.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Subcellular partitioning of MRP RNA assessed by ultrastructural and biochemical analysis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Increased incidence of cancer in patients with cartilage-hair hypoplasia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Secondary structure of RNase MRP RNA as predicted by phylogenetic comparison.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Cartilage-hair hypoplasia in childhood.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

The in vitro transcription of the 7SK RNA gene by RNA polymerase III is dependent only on the presence of an upstream promoter.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Efficacy of growth hormone therapy for patients with skeletal dysplasia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1262189

Growth hormone treatment in cartilage-hair hypoplasia: effects on growth and the immune system

29 November 2018

1 reference

12 December 2020

Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, type McKusick) with combined immune deficiency: variable expression and development of immunologic functions in sibs

1 reference

12 December 2020

Immunologic studies of cartilage-hair hypoplasia in the Amish

1 reference

12 December 2020

Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency

1 reference

12 December 2020

Hypoplasia of cartilage and hair with combined immune deficiency

1 reference

12 December 2020

Anaemia and macrocytosis—unrecognized features in cartilage‐hair hypoplasia

1 reference

12 December 2020

Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia

1 reference

12 December 2020

The evolution of the RNase P- and RNase MRP-associated RNAs: phylogenetic analysis and nucleotide substitution rate

1 reference

12 December 2020

Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system

1 reference

12 December 2020

Hirschsprung disease associated with severe cartilage-hair hypoplasia

1 reference

12 December 2020

Identity of the RNase MRP- and RNase P-associated Th/To autoantigen

1 reference

12 December 2020

RMRP mutations in Japanese patients with cartilage-hair hypoplasia

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.0010047

Identifiers

DOI

1 reference

5 July 2017

1 reference

5 July 2017

1 reference