List of works - Detlev Schindler

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

scientific article

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

scientific article

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

scientific article

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

scientific article published on 18 April 2010

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

scientific article

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

article

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

scientific article

A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability

scientific article

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

scientific article published on 30 April 2009

FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway

scientific article

Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability

scientific journal article

Identification of the Fanconi anemia complementation group I gene, FANCI.

scientific article published in January 2007

Genotype-phenotype correlations in Fanconi anemia

scientific article published on 21 May 2009

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

scientific article published on 25 June 2015

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

scientific article published on 6 April 2007

A novel approach to describe a U1 snRNA binding site.

scientific article published on December 2003

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

scientific article published on 10 July 2017

A Ubiquitin-Binding Protein, FAAP20, Links RNF8-Mediated Ubiquitination to the Fanconi Anemia DNA Repair Network

scientific article published on June 14, 2012

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

scientific article

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

scientific article published on October 2007

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

scientific article

Misregulated Chromosome Condensation in MCPH1 Primary Microcephaly is Mediated by Condensin II

scientific article

ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control

scientific article

Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia

scientific article

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

scientific article published on 15 January 2007

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.

scientific article

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination

scientific article

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition

scientific article published on 20 February 2002

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

article

SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11.

scientific article

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

scientific article

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.

scientific article

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain

scientific article published on 2 November 2004

A role for the Fanconi anemia C protein in maintaining the DNA damage-induced G2 checkpoint

scientific article published on 17 September 2004

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

scientific article published on November 2005

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

scientific article

Treatment of the bone marrow failure in Fanconi anemia patients with danazol

scientific article published on December 16, 2011

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

scientific article published on 26 September 2016

On the role of FAN1 in Fanconi anemia

scientific article

Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy

scientific article published on November 2003

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.

scientific article published on 16 October 2012

A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells

scientific article

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

scientific article published on 01 February 2019

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

scientific article published on 01 April 2006

MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest

scientific article published on 15 December 2010

Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer

scientific article published on 31 July 2011

Lack of sensitivity of primary Fanconi's anemia fibroblasts to UV and ionizing radiation

scientific article published on 01 March 2004

Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair

scientific article

Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents

scientific article

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.

scientific article published on 19 August 2012

List of works by Detlev Schindler

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

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

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

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

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

A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway

Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability

Identification of the Fanconi anemia complementation group I gene, FANCI.

Genotype-phenotype correlations in Fanconi anemia

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

A novel approach to describe a U1 snRNA binding site.

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

A Ubiquitin-Binding Protein, FAAP20, Links RNF8-Mediated Ubiquitination to the Fanconi Anemia DNA Repair Network

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

Misregulated Chromosome Condensation in MCPH1 Primary Microcephaly is Mediated by Condensin II

ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control

Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11.

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

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.

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain

A role for the Fanconi anemia C protein in maintaining the DNA damage-induced G2 checkpoint

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

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

Treatment of the bone marrow failure in Fanconi anemia patients with danazol

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

On the role of FAN1 in Fanconi anemia

Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.

A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

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

MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest

Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer

Lack of sensitivity of primary Fanconi's anemia fibroblasts to UV and ionizing radiation

Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair

Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.