Fanconi anaemia: genetics, molecular biology, and cancer - implications for clinical management in children and adults

Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention

(2014) Stavros M. Stivaros et al.   BRITISH JOURNAL OF HAEMATOLOGY

The histone-fold complex MHF is remodeled by FANCM to recognize branched DNA and protect genome stability

(2014) David Fox et al.   CELL RESEARCH

Detection of Early Esophageal Cancer and Cervical Lymph Node Metastases by 18F-FDG PET/CT in a Patient With Fanconi Anemia

(2014) Tamaki Ichikawa et al.   CLINICAL NUCLEAR MEDICINE

Targeted gene therapy and cell reprogramming in Fanconi anemia

(2014) P. Rio et al.   EMBO Molecular Medicine

The Carboxyl Terminus of FANCE Recruits FANCD2 to the Fanconi Anemia (FA) E3 Ligase Complex to Promote the FA DNA Repair Pathway

(2014) David Polito et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

XPF-ERCC1 Acts in Unhooking DNA Interstrand Crosslinks in Cooperation with FANCD2 and FANCP/SLX4

(2014) Daisy Klein Douwel et al.   MOLECULAR CELL

Mouse SLX4 Is a Tumor Suppressor that Stimulates the Activity of the Nuclease XPF-ERCC1 in DNA Crosslink Repair

(2014) Michael R.G. Hodskinson et al.   MOLECULAR CELL

Mycoplasma salivarium as a Dominant Coloniser of Fanconi Anaemia Associated Oral Carcinoma

(2014) Birgit Henrich et al.   PLoS One

The MHF complex senses branched DNA by binding a pair of crossover DNA duplexes

(2014) Qi Zhao et al.   Nature Communications

FANCD2 and CtIP Cooperate to Repair DNA Interstrand Crosslinks

(2014) Olga Murina et al.   Cell Reports

FANCD2 Binds CtIP and Regulates DNA-End Resection during DNA Interstrand Crosslink Repair

(2014) Junya Unno et al.   Cell Reports

Ocular manifestations and visual functions in patients with Fanconi anaemia

(2013) Alba Lucia Törnquist et al.   ACTA OPHTHALMOLOGICA

Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

(2013) Massimo Bogliolo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Salivary detection of periodontopathic bacteria in Fanconi's anemia patients

(2013) Karine Lyko et al.   ANAEROBE

Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients

(2013) A. Hira et al.   BLOOD

Allogeneic hematopoietic stem cell transplantation in Fanconi anemia: the European Group for Blood and Marrow Transplantation experience

(2013) R. Peffault de Latour et al.   BLOOD

Allogeneic Hematopoietic Cell Transplantation for Fanconi Anemia in Patients With Pretransplantation Cytogenetic Abnormalities, Myelodysplastic Syndrome, or Acute Leukemia

(2013) Mouhab Ayas et al.   JOURNAL OF CLINICAL ONCOLOGY

Fanconi anaemia,BRCA2mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling

(2013) Stefan Meyer et al.   JOURNAL OF MEDICAL GENETICS

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

(2013) Molly C. Kottemann et al.   NATURE

Oxandrolone for the treatment of bone marrow failure in Fanconi anemia

(2013) Susan R. Rose et al.   PEDIATRIC BLOOD & CANCER

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

(2012) D.J. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The FA pathway counteracts oxidative stress through selective protection of antioxidant defense gene promoters

(2012) W. Du et al.   BLOOD

Incidental detection of Chiari malformation in Fanconi anaemia

(2012) S. Deepak Amalnath et al.   BRITISH JOURNAL OF HAEMATOLOGY

ATR-ATRIP Kinase Complex Triggers Activation of the Fanconi Anemia DNA Repair Pathway

(2012) T. Shigechi et al.   CANCER RESEARCH

Bone Marrow Failure in Fanconi Anemia Is Triggered by an Exacerbated p53/p21 DNA Damage Response that Impairs Hematopoietic Stem and Progenitor Cells

(2012) Raphael Ceccaldi et al.   Cell Stem Cell

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

(2012) Stephanie Smetsers et al.   Familial Cancer

Gene Therapy for Fanconi Anemia: One Step Closer to the Clinic

(2012) Jakub Tolar et al.   HUMAN GENE THERAPY

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function

(2012) Juan I. Garaycoechea et al.   NATURE

Endocrine phenotype of children and adults with Fanconi anemia

(2012) Susan R. Rose et al.   PEDIATRIC BLOOD & CANCER

Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML

(2012) Andrzej Rochowski et al.   PEDIATRIC BLOOD & CANCER

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

(2012) J. W. C. Leung et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer

(2012) Susan M. Domchek et al.   Cancer Discovery

CtIP Is Required to Initiate Replication-Dependent Interstrand Crosslink Repair

(2012) Michelle L. Duquette et al.   PLoS Genetics

Postoperative Clinical Radiosensitivity in Patients With Fanconi Anemia and Head and Neck Squamous Cell Carcinoma

(2011) Andrew C. Birkeland   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY

Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions

(2011) S. Quentin et al.   BLOOD

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

(2011) Kathrin Scheckenbach et al.   BLOOD CELLS MOLECULES AND DISEASES

BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair

(2011) A. V. Nimonkar et al.   GENES & DEVELOPMENT

Fatal course of tonsillar squamous cell carcinoma associated with Fanconi anaemia: A mini review

(2011) Gerrit Spanier et al.   JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice

(2011) Frédéric Langevin et al.   NATURE

Mutations of the SLX4 gene in Fanconi anemia

(2011) Yonghwan Kim et al.   NATURE GENETICS

Mutations in BRIP1 confer high risk of ovarian cancer

(2011) Thorunn Rafnar et al.   NATURE GENETICS

Formaldehyde catabolism is essential in cells deficient for the Fanconi anemia DNA-repair pathway

(2011) Ivan V Rosado et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Haematopoeitic cell transplantation for Fanconi anaemia - when and how?

(2010) Margaret L. MacMillan et al.   BRITISH JOURNAL OF HAEMATOLOGY

PALB2/FANCN: Recombining Cancer and Fanconi Anemia

(2010) M. Tischkowitz et al.   CANCER RESEARCH

Fertility recovery and pregnancy after allogeneic hematopoietic stem cell transplantation in Fanconi anemia patients

(2010) S. K. Nabhan et al.   HAEMATOLOGICA

Vulvar squamous cell carcinoma associated with Fanconi’s anemia

(2010) Azamsadat Mousavi et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

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

(2010) Fiona Vaz et al.   NATURE GENETICS

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

(2010) Alfons Meindl et al.   NATURE GENETICS

ATR: a master conductor of cellular responses to DNA replication stress

(2010) Rachel Litman Flynn et al.   TRENDS IN BIOCHEMICAL SCIENCES

Diagnosis of Myelodysplastic Syndrome Among a Cohort of 119 Patients With Fanconi Anemia

(2009) Adina M. Cioc et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Development of Lentiviral Vectors with Optimized Transcriptional Activity for the Gene Therapy of Patients with Fanconi Anemia

(2009) África González-Murillo et al.   HUMAN GENE THERAPY

Fanconi anemia and its diagnosis

(2009) Arleen D. Auerbach   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Genotype–phenotype correlations in Fanconi anemia

(2009) Kornelia Neveling et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Interstrand DNA Cross-Links Induced by α,β-Unsaturated Aldehydes Derived from Lipid Peroxidation and Environmental Sources

(2008) Michael P. Stone et al.   ACCOUNTS OF CHEMICAL RESEARCH

Audiologic abnormalities of Fanconi anaemia

(2008) Maria José Vale et al.   ACTA OTO-LARYNGOLOGICA

Cancer incidence in relatives of British Fanconi Anaemia patients

(2008) Marc Tischkowitz et al.   BMC CANCER

Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation

(2008) Caroline Masserot et al.   CANCER

Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry

(2008) P. S. Rosenberg et al.   HAEMATOLOGICA

Clinical and Molecular Characteristics of Squamous Cell Carcinomas From Fanconi Anemia Patients

(2008) Hester J. T. van Zeeburg et al.   JNCI-Journal of the National Cancer Institute

The genetic and molecular basis of Fanconi anemia

(2008) Johan P. de Winter et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway

(2008) Masamichi Ishiai et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY