(Q37203101)

English

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

scientific article published on 20 September 2002

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females (English)

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

1 reference

based on heuristic

inferred from title

James R. Lupski

10

object named as

James R Lupski

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Lisa Rosenbarker

6

object named as

Lisa Rosenbarker

1 reference

Europe PubMed Central

18 August 2017

PMC publication ID

author name string

Ken Inoue

1

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Hitoshi Osaka

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Virginia C Thurston

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Joe T R Clarke

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Akira Yoneyama

5

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Thomas D Bird

7

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

M E Hodes

8

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Lisa G Shaffer

9

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Europe PubMed Central

PMC publication ID

18 August 2017

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publication date

20 September 2002

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Europe PubMed Central

PMC publication ID

18 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PMC publication ID

18 August 2017

71

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Europe PubMed Central

PMC publication ID

18 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

838-853

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Molecular mechanisms for genomic disorders

1 reference

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6 September 2017

Molecular-evolutionary mechanisms for genomic disorders

1 reference

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6 September 2017

BLAT—The BLAST-Like Alignment Tool

1 reference

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6 September 2017

Genome architecture, rearrangements and genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378540

6 September 2017

The Ensembl genome database project

1 reference

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6 September 2017

Segmental duplications: an 'expanding' role in genomic instability and disease

1 reference

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6 September 2017

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

1 reference

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6 September 2017

Segmental duplications: what's missing, misassigned, and misassembled--and should we care?

1 reference

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beta-Thymosins, small acidic peptides with multiple functions

1 reference

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cDNA cloning of a new member of the Ras superfamily, RAB9-like, on the human chromosome Xq22.1-q22.3 region

1 reference

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6 September 2017

Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome

1 reference

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6 September 2017

PipMaker--a web server for aligning two genomic DNA sequences

1 reference

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6 September 2017

The molecular pathogenesis of Pelizaeus-Merzbacher disease

1 reference

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6 September 2017

Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

1 reference

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6 September 2017

A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR

1 reference

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6 September 2017

A myelin proteolipid protein-LacZ fusion protein is developmentally regulated and targeted to the myelin membrane in transgenic mice

1 reference

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6 September 2017

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378540

6 September 2017

Position-independent, high-level expression of the human beta-globin gene in transgenic mice

1 reference

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6 September 2017

Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378540

6 September 2017

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

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6 September 2017

DOP-vector PCR: a method for rapid isolation and sequencing of insert termini from PAC clones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378540

14 September 2017

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378540

28 September 2017

Transgenic systems in studying myelin gene expression

1 reference

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28 September 2017

Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination

1 reference

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28 September 2017

Proteolipid protein is necessary in peripheral as well as central myelin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378540

26 June 2018

Heterochromatin effects on the frequency and duration of LCR-mediated gene transcription.

1 reference

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26 June 2018

Telomere position effect in human cells

1 reference

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3 September 2018

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378540

3 September 2018

Axonal swellings and degeneration in mice lacking the major proteolipid of myelin

1 reference

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3 September 2018

Beyond the nucleosome: epigenetic aspects of position-effect variegation in Drosophila.

1 reference

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3 September 2018

Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/12297985

12 December 2020

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inferred from PubMed ID database lookup

β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

1 reference

https://pubmed.ncbi.nlm.nih.gov/12297985

12 December 2020

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inferred from PubMed ID database lookup

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/12297985

12 December 2020

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inferred from PubMed ID database lookup

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12297985

12 December 2020

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inferred from PubMed ID database lookup

Locus control region function and heterochromatin-induced position effect variegation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12297985

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

1 reference

https://pubmed.ncbi.nlm.nih.gov/12297985

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assembly of CNS myelin in the absence of proteolipid protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/12297985

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inferred from PubMed ID database lookup

Position effect in human genetic disease

1 reference

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inferred from PubMed ID database lookup

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/12297985

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inferred from PubMed ID database lookup

Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/12297985

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations

1 reference

https://pubmed.ncbi.nlm.nih.gov/12297985

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

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