(Q30371243)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26085575%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26085575%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

14

1 reference

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17 February 2020

Lola Cook Shukla

22

1 reference

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17 February 2020

27

Gail H Vance

1 reference

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17 February 2020

17

Kathrin Scheckenbach

1 reference

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17 February 2020

author name string

Elizabeth L Virts

1

1 reference

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17 February 2020

Anna Jankowska

2

1 reference

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17 February 2020

Craig Mackay

3

1 reference

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17 February 2020

Marcel F Glaas

4

1 reference

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17 February 2020

Constanze Wiek

5

1 reference

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17 February 2020

Stephanie L Kelich

6

1 reference

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17 February 2020

Nadine Lottmann

7

1 reference

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17 February 2020

Felicia M Kennedy

8

1 reference

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17 February 2020

Christophe Marchal

9

1 reference

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17 February 2020

Erik Lehnert

10

1 reference

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17 February 2020

Rüdiger E Scharf

11

1 reference

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17 February 2020

Carlo Dufour

12

1 reference

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17 February 2020

Marina Lanciotti

13

1 reference

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17 February 2020

Alessandra Santoro

15

1 reference

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17 February 2020

Süreyya Savasan

16

1 reference

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17 February 2020

Jörg Schipper

18

1 reference

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17 February 2020

Martin Wagenmann

19

1 reference

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17 February 2020

Todd Lewis

20

1 reference

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17 February 2020

Michael Leffak

21

1 reference

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17 February 2020

Ellen Honisch

24

1 reference

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17 February 2020

Dieter Niederacher

25

1 reference

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17 February 2020

Sujata C Chakraborty

26

1 reference

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17 February 2020

Dmitry Pruss

28

1 reference

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17 February 2020

Kirsten M Timms

29

1 reference

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17 February 2020

Jerry S Lanchbury

30

1 reference

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17 February 2020

Arno F Alpi

31

1 reference

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17 February 2020

Helmut Hanenberg

32

1 reference

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17 February 2020

Tatiana M Foroud

23

1 reference

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17 February 2020

language of work or name

English

0 references

publication date

17 June 2015

1 reference

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17 February 2020

published in

Human Molecular Genetics

1 reference

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17 February 2020

volume

24

1 reference

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17 February 2020

issue

18

1 reference

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17 February 2020

page(s)

5093-5108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26085575%20AND%20SRC:MED&resulttype=core&format=json

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm

17 February 2020

cites work

1 reference

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

3 June 2018

1 reference

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Identification of amino acid determinants in CYP4B1 for optimal catalytic processing of 4-ipomeanol.

3 June 2018

1 reference

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Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

3 June 2018

1 reference

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Breast-cancer risk in families with mutations in PALB2

3 June 2018

1 reference

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Regulation of FANCD2 and FANCI monoubiquitination by their interaction and by DNA.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

3 June 2018

1 reference

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Structure of the Human FANCL RING-Ube2T Complex Reveals Determinants of Cognate E3-E2 Selection

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

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

3 June 2018

1 reference

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A protein prioritization approach tailored for the FA/BRCA pathway

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Nonsense-mediated mRNA decay - mechanisms of substrate mRNA recognition and degradation in mammalian cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Molecular pathogenesis and clinical management of Fanconi anemia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

The Fanconi anaemia components UBE2T and FANCM are functionally linked to nucleotide excision repair

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Endocrine phenotype of children and adults with Fanconi anemia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Hereditary ovarian cancer: beyond the usual suspects

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

DNA interstrand crosslink repair and cancer

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

UBE2W interacts with FANCL and regulates the monoubiquitination of Fanconi anemia protein FANCD2

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Susceptibility pathways in Fanconi's anemia and breast cancer

3 June 2018

1 reference

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Pathophysiology and management of inherited bone marrow failure syndromes

3 June 2018

1 reference

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Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Nonhomologous DNA end joining (NHEJ) and chromosomal translocations in humans

3 June 2018

1 reference

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Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Fanconi anemia and its diagnosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Inhibition of Nonsense-mediated mRNA Decay by the Natural Product Pateamine A through Eukaryotic Initiation Factor 4AIII

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Diagnosis of Fanconi anemia in patients with bone marrow failure

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Nonsense-mediated mRNA decay (NMD) mechanisms

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Genetic predisposition to breast cancer: past, present, and future

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Natural gene therapy in monozygotic twins with Fanconi anemia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Comparison of three retroviral vector systems for transduction of nonobese diabetic/severe combined immunodeficiency mice repopulating human CD34+ cord blood cells.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Cancer in Fanconi anemia, 1927-2001

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

A novel diagnostic screen for defects in the Fanconi anemia pathway

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

High frequency of large intragenic deletions in the Fanconi anemia group A gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

The Fanconi anaemia group G gene FANCG is identical with XRCC9

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Mutation analysis in the BRCA2 gene in primary breast cancers

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

3 June 2018

1 reference

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Cancer in Fanconi anemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV227

Cancer incidence in persons with Fanconi anemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV227

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV227

Genotype-phenotype correlations in Fanconi anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV227

Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV227

Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV227

Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 example

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV227

Colocalization of retrovirus and target cells on specific fibronectin fragments increases genetic transduction of mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV227

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV227

Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV227

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Fanconi anemia diagnosis and the diepoxybutane (DEB) test.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4550815

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

26 November 2018

1 reference

12 December 2020

Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia

1 reference

12 December 2020

Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family

1 reference

12 December 2020

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group

1 reference

12 December 2020

X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations

1 reference

12 December 2020

Delayed diagnosis and complications of Fanconi anaemia at advanced age--a paradigm

1 reference

12 December 2020

Subtyping of Fanconi anemia patients: implications for clinical management

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDV227

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26085575%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26085575%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

PubMed publication ID

26085575

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26085575%20AND%20SRC:MED&resulttype=core&format=json