Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
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New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicalsMitotic homologous recombination maintains genomic stability and suppresses tumorigenesisRevertant mosaicism in skin: natural gene therapyDisease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells.Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients - A Mere Coincidence?Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage.FANCD2 is a potential therapeutic target and biomarker in alveolar rhabdomyosarcoma harboring the PAX3-FOXO1 fusion gene.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.Induced pluripotent stem cells in dermatology: potentials, advances, and limitationsGenotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repairModelling Fanconi anemia pathogenesis and therapeutics using integration-free patient-derived iPSCsThe FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities.Fancd2 is required for nuclear retention of Foxo3a in hematopoietic stem cell maintenance.Coordinate nuclear targeting of the FANCD2 and FANCI proteins via a FANCD2 nuclear localization signal.Defective FANCI binding by a fanconi anemia-related FANCD2 mutant.Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.Diagnosis of fanconi anemia: mutation analysis by next-generation sequencingDiagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger SequencingFANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex.Regulation of the Fanconi anemia pathway by a CUE ubiquitin-binding domain in the FANCD2 protein.Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patientsFan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction.Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.Fanconi anemia proteins, DNA interstrand crosslink repair pathways, and cancer therapy.The FANCD2-FANCI complex is recruited to DNA interstrand crosslinks before monoubiquitination of FANCD2.First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease.Finding the needle in the hay stack: hematopoietic stem cells in Fanconi anemia.Genetic counseling for Fanconi anemia: crosslinking disciplines.Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults.The Fanconi anemia ID2 complex: dueling saxes at the crossroads.Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma.FANCD2-controlled chromatin access of the Fanconi-associated nuclease FAN1 is crucial for the recovery of stalled replication forks.How I manage patients with Fanconi anaemia.Impaired removal of DNA interstrand cross-link in Nijmegen breakage syndrome and Fanconi anemia, but not in BRCA-defective group.Fancd2-/- mice have hematopoietic defects that can be partially corrected by resveratrol.Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
P2860
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P2860
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Hypomorphic mutations in the g ...... atients with severe phenotype.
@ast
Hypomorphic mutations in the g ...... atients with severe phenotype.
@en
type
label
Hypomorphic mutations in the g ...... atients with severe phenotype.
@ast
Hypomorphic mutations in the g ...... atients with severe phenotype.
@en
prefLabel
Hypomorphic mutations in the g ...... atients with severe phenotype.
@ast
Hypomorphic mutations in the g ...... atients with severe phenotype.
@en
P2093
P2860
P50
P356
P1476
Hypomorphic mutations in the g ...... atients with severe phenotype.
@en
P2093
Angeles Dasi
C Michel Zwaan
Curtis Hunt
Detlev Schindler
Elsa Callen
Hans Joenje
Helmut Hanenberg
Hildegard Schneider
Holger Hoehn
Jean Soulier
P2860
P304
P356
10.1086/517616
P407
P577
2007-04-06T00:00:00Z