Elucidation of the complex structure and origin of the human trypsinogen locus triplication. (Q46039825)

18 December 2017

title

Elucidation of the complex structure and origin of the human trypsinogen locus triplication. (English)

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18 December 2017

author

David N. Cooper

7

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18 December 2017

Hildegard Kehrer-Sawatzki

5

object named as

Hildegard Kehrer-Sawatzki

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18 December 2017

author name string

Angélique Chauvin

1

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18 December 2017

Jian-Min Chen

2

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18 December 2017

Sylvia Quemener

3

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18 December 2017

Emmanuelle Masson

4

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18 December 2017

Barbara Ohmle

6

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18 December 2017

Cédric Le Maréchal

8

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18 December 2017

Claude Férec

9

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18 December 2017

publication date

7 July 2009

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18 December 2017

published in

Human Molecular Genetics

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18 December 2017

volume

18

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18 December 2017

issue

19

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18 December 2017

page(s)

3605-3614

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18 December 2017

Challenges and standards in integrating surveys of structural variation

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https://api.crossref.org/works/10.1093%2FHMG%2FDDP308

The population genetics of structural variation

21 January 2018

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Mutational and selective effects on copy-number variants in the human genome

21 January 2018

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CNVs and genetic medicine (excitement and consequences of a rediscovery).

21 January 2018

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

21 January 2018

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Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

21 January 2018

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Complex gene rearrangements caused by serial replication slippage

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDP308

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

21 January 2018

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP308

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

21 January 2018

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Mechanisms for human genomic rearrangements

21 January 2018

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Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication

21 January 2018

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Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments

21 January 2018

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Copy number variations in chronic pancreatitis

21 January 2018

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Template switching during break-induced replication

21 January 2018

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On the mechanism of gene amplification induced under stress in Escherichia coli

21 January 2018

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Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms

21 January 2018

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A microhomology-mediated break-induced replication model for the origin of human copy number variation

21 January 2018

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Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene

21 January 2018

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Evolution of trypsinogen activation peptides

21 January 2018

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"Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis

21 January 2018

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A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis

21 January 2018

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Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis

21 January 2018

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The mechanism of human nonhomologous DNA end joining

21 January 2018

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Break-induced replication and recombinational telomere elongation in yeast

21 January 2018

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DNA recombination: the replication connection.

21 January 2018

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Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.

21 January 2018

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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

21 January 2018

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Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants

21 January 2018

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Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDP308

alpha-Synuclein locus triplication causes Parkinson's disease

21 January 2018

1 reference

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Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

21 January 2018

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Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDP308

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18 December 2017

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18 December 2017