Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination (Q34137518)

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English	Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination	scientific article

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scholarly article

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Europe PubMed Central

31 July 2017

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination (English)

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Europe PubMed Central

31 July 2017

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Pelizaeus-Merzbacher disease

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Erik Sistermans

4

object named as

Erik A Sistermans

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Europe PubMed Central

31 July 2017

author name string

Karen J Woodward

1

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Europe PubMed Central

31 July 2017

Maria Cundall

2

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Europe PubMed Central

31 July 2017

Karen Sperle

3

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Europe PubMed Central

31 July 2017

Mark Ross

5

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Europe PubMed Central

31 July 2017

Gareth Howell

6

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Europe PubMed Central

31 July 2017

Susan M Gribble

7

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Europe PubMed Central

31 July 2017

Deborah C Burford

8

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Europe PubMed Central

31 July 2017

Nigel P Carter

9

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Europe PubMed Central

31 July 2017

Donald L Hobson

10

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Europe PubMed Central

31 July 2017

James Y Garbern

11

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Europe PubMed Central

31 July 2017

John Kamholz

12

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Europe PubMed Central

31 July 2017

Henry Heng

13

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Europe PubMed Central

31 July 2017

M E Hodes

14

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Europe PubMed Central

31 July 2017

Sue Malcolm

15

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Europe PubMed Central

31 July 2017

Grace M Hobson

16

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31 July 2017

language of work or name

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publication date

19 October 2005

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31 July 2017

American Journal of Human Genetics

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31 July 2017

77

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31 July 2017

6

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31 July 2017

966-987

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31 July 2017

Vesicle transport in oligodendrocytes: probable role of Rab40c protein

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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

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5 July 2018

Pathways for mitotic homologous recombination in mammalian cells

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Mechanism and regulation of human non-homologous DNA end-joining

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An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

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5 July 2018

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

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5 July 2018

IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis

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5 July 2018

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot

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5 July 2018

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

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5 July 2018

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

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5 July 2018

Molecular mechanisms for genomic disorders

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Molecular-evolutionary mechanisms for genomic disorders

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5 July 2018

An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome

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Alu repeats and human genomic diversity

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Panhandle and reverse-panhandle PCR enable cloning of der(11) and der(other) genomic breakpoint junctions of MLL translocations and identify complex translocation of MLL, AF-4, and CDK6.

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IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system.

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Near-precise interchromosomal recombination and functional DNA topoisomerase II cleavage sites at MLL and AF-4 genomic breakpoints in treatment-related acute lymphoblastic leukemia with t(4;11) translocation

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5 July 2018

Segmental duplications: organization and impact within the current human genome project assembly

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5 July 2018

AT-rich palindromes mediate the constitutional t(11;22) translocation.

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5 July 2018

Coupled homologous and nonhomologous repair of a double-strand break preserves genomic integrity in mammalian cells

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5 July 2018

GT repeats are associated with recombination on human chromosome 22.

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5 July 2018

Sister chromatid gene conversion is a prominent double-strand break repair pathway in mammalian cells

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5 July 2018

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

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

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Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene

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Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome

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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

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5 July 2018

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

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5 July 2018

A common molecular basis for rearrangement disorders on chromosome 22q11

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5 July 2018

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

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Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice

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Molecular mechanisms of DNA double strand break repair

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5 July 2018

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

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5 July 2018

t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes

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5 July 2018

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

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Identification of complex genomic breakpoint junctions in the t(9;11) MLL-AF9 fusion gene in acute leukemia

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5 July 2018

One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

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5 July 2018

Molecular analysis of 13 cases of MLL/11q23 secondary acute leukemia and identification of topoisomerase II consensus-binding sequences near the chromosomal breakpoint of a secondary leukemia with the t(4;11).

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5 July 2018

A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.

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Genetics of Pelizaeus-Merzbacher disease

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Early lesion of Pelizaeus-Merzbacher disease: electron microscopic and biochemical study

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Pelizaeus-Merzbacher disease: clinical and nosological study

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Nonhomologous recombination in mammalian cells: role for short sequence homologies in the joining reaction

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Mechanisms of nonhomologous recombination in mammalian cells

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

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5 July 2018

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285180

28 October 2018

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1 reference

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Bias of purine stretches in sequenced chromosomes

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Analysis of 22 deletion breakpoints in dystrophin intron 49.

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28 October 2018

Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease.

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A DNA damage repair mechanism is involved in the origin of chromosomal translocations t(4;11) in primary leukemic cells.

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28 October 2018

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

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28 October 2018

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

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Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

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Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

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X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

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Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease

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Electrophysiologic observations in the classical form of Pelizaeus-Merzbacher disease

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

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

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based on heuristic

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Europe PubMed Central

31 July 2017

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Europe PubMed Central

31 July 2017

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Europe PubMed Central

31 July 2017

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