(Q38811354)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27091086%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

title

Genome stability: What we have learned from cohesinopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27091086%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

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2

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2 April 2020

author name string

Francesco Cucco

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27091086%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

publication date

19 April 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27091086%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

2 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27091086%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

volume

172

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27091086%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27091086%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

page(s)

171-178

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27091086%20AND%20SRC:MED&resulttype=core&format=json

R loops: from transcription byproducts to threats to genome stability

2 April 2020

cites work

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Genome instability: a mechanistic view of its causes and consequences

21 January 2018

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A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

21 January 2018

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Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings

21 January 2018

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Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

21 January 2018

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Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers

21 January 2018

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Cohesin promotes the repair of ionizing radiation-induced DNA double-strand breaks in replicated chromatin

21 January 2018

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Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome

21 January 2018

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Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia

21 January 2018

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The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation

21 January 2018

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Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway

21 January 2018

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Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

21 January 2018

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Cohesin protects genes against γH2AX Induced by DNA double-strand breaks

21 January 2018

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A signature of chromosomal instability inferred from gene expression profiles predicts clinical outcome in multiple human cancers.

21 January 2018

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Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

21 January 2018

1 reference

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Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

21 January 2018

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A role for Separase in telomere protection.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Mutant cohesin drives chromosomal instability in early colorectal adenomas.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

RAD21 mutations cause a human cohesinopathy

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Studies with the human cohesin establishment factor, ChlR1. Association of ChlR1 with Ctf18-RFC and Fen1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

History of C-patient with SC-Roberts/pseudothalidamide syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

R-loop-mediated genomic instability is caused by impairment of replication fork progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

The Cohesin Complex Prevents the End Joining of Distant DNA Double-Strand Ends.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

SMC3 knockdown triggers genomic instability and p53-dependent apoptosis in human and zebrafish cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Modulation of oxidative stress as an anticancer strategy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Cohesin organizes chromatin loops at DNA replication factories.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Cotranscriptionally Formed DNA:RNA Hybrids Mediate Transcription Elongation Impairment and Transcription-Associated Recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Mediator and cohesin connect gene expression and chromatin architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

CTCF/cohesin-binding sites are frequently mutated in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Natural history of aging in Cornelia de Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Inactivation of the SR protein splicing factor ASF/SF2 results in genomic instability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Transcriptional dysregulation in NIPBL and cohesin mutant human cells

21 January 2018

1 reference

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Cohesin in cancer: chromosome segregation and beyond

21 January 2018

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SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins.

21 January 2018

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Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

21 January 2018

1 reference

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The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.

21 January 2018

1 reference

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The dark side of cohesin: the carcinogenic point of view

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Post-replicative repair involves separase-dependent removal of the kleisin subunit of cohesin

21 January 2018

1 reference

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Cohesins: chromosomal proteins that prevent premature separation of sister chromatids

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

SMC1 involvement in fragile site expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Cohesin: its roles and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Cohesins functionally associate with CTCF on mammalian chromosome arms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Clinical utility gene card for: Cornelia de Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Regulation of the Drosophila Enhancer of split and invected-engrailed gene complexes by sister chromatid cohesion proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Roles of ChlR1 DNA helicase in replication recovery from DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Sister chromatid cohesion is required for postreplicative double-strand break repair in Saccharomyces cerevisiae.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Chl1p, a DNA helicase-like protein in budding yeast, functions in sister-chromatid cohesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Mutational inactivation of STAG2 causes aneuploidy in human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

DNA double-strand breaks trigger genome-wide sister-chromatid cohesion through Eco1 (Ctf7).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Dose-dependent role of the cohesin complex in normal and malignant hematopoiesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

The origin and evolution of mutations in acute myeloid leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Rhabdomyosarcoma in Roberts syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

The non-redundant function of cohesin acetyltransferase Esco2: some answers and new questions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Cohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Transcription factor binding in human cells occurs in dense clusters formed around cohesin anchor sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

Cohesin and CTCF differentially affect chromatin architecture and gene expression in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31492

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31492

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27091086%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

1 reference