(Q24680328)

English

The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure

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scholarly article

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Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure (English)

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

facioscapulohumeral muscular dystrophy

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author name string

Monica Rossi

1

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

Enzo Ricci

2

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

Luca Colantoni

3

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

Giuliana Galluzzi

4

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

Roberto Frusciante

5

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

Pietro A Tonali

6

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

Luciano Felicetti

7

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

language of work or name

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publication date

2 March 2007

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

BMC Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

8

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

1

0 references

8

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

7 April 2017

Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

7 April 2017

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

25 May 2017

An anthropoid-specific segmental duplication on human chromosome 1q22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Inappropriate Gene Activation in FSHD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Masquerading repeats: paralogous pitfalls of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Physical Mapping Evidence for a Duplicated Region on Chromosome 10qter Showing High Homology with the Facioscapulohumeral Muscular Dystrophy Locus on Chromosome 4qter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

28 September 2017

Patterns of metabolic activity during aging of the wild type and longevity mutants of Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Mitochondrial genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Mother's curse: the effect of mtDNA on individual fitness and population viability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Understanding aging: revealing order out of chaos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

The role of mitochondria in the establishment of oocyte functional competence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Mutation and intracellular clonal expansion of mitochondrial genomes: two synergistic components of the aging process?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Mitochondrial threshold effects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Repair of oxidative DNA damage in nuclear and mitochondrial DNA, and some changes with aging in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Regulated disruption of inositol 1,4,5-trisphosphate signaling in Caenorhabditis elegans reveals new functions in feeding and embryogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Asthenozoospermia in mice with targeted deletion of the sperm mitochondrion-associated cysteine-rich protein (Smcp) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Mitochondrial mutations may drive Y chromosome evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Reducing the genome size of organelles favours gene transfer to the nucleus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Mutations in mtDNA: are we scraping the bottom of the barrel?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

In organello formaldehyde crosslinking of proteins to mtDNA: identification of bifunctional proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Organellar genes: why do they end up in the nucleus?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Evolution of lifespan in C. elegans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Genetic and environmental conditions that increase longevity in Caenorhabditis elegans decrease metabolic rate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Mitochondrial DNA repair pathways.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

The bottleneck: mitochondrial imperatives in oogenesis and ovarian follicular fate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Biochemical and molecular consequences of massive mitochondrial gene loss in different tissues of a mutant strain of Drosophila subobscura.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Mitochondrial DNA mutations and pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Mutation accumulation in transfer RNAs: molecular evidence for Muller's ratchet in mitochondrial genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Genetic mapping with polymorphic sequence-tagged sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Increased frequency of deletions in the mitochondrial genome with age of Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

The genetics of Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Initiation of spermiogenesis in C. elegans: a pharmacological and genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Centripetal flow and directed reassembly of the major sperm protein (MSP) cytoskeleton in the amoeboid sperm of the nematode,Ascaris suum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852114

30 May 2018

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

19 June 2018

Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821008

19 June 2018

Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-8

21 January 2018

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-8

21 January 2018

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD)

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-8

21 January 2018

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

1 reference

https://pubmed.ncbi.nlm.nih.gov/17335567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pulse field gel electrophoresis for the detection of facioscapulohumeral muscular dystrophy gene rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/17335567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/17335567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17335567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17335567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17335567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Definitive molecular diagnosis of facioscapulohumeral dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17335567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17335567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-8-8

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 June 2018

http://europepmc.org/abstract/PMC/1821008

ResearchGate publication ID

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