about
Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunitG2E3 is a dual function ubiquitin ligase required for early embryonic developmentFanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndromeOesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiologyLearning from a paradox: recent insights into Fanconi anaemia through studying mouse modelsCellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insightsDeletion of Fanca or Fancd2 dysregulates Treg in miceMgm101: A double-duty Rad52-like protein.Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells.Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.The role of the Fanconi anemia network in the response to DNA replication stress.Congenic mice confirm that collagen X is required for proper hematopoietic development.FANCM regulates DNA chain elongation and is stabilized by S-phase checkpoint signalling.A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population.A 15-year-old girl with pancytopenia and congenital defectsFanconi anemia signaling and Mus81 cooperate to safeguard development and crosslink repairThe Mph1 helicase can promote telomere uncapping and premature senescence in budding yeast.The WD40 repeats of FANCL are required for Fanconi anemia core complex assembly.Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.Management of dental extraction in a female patient with fanconi anemia.Modelling Fanconi anemia pathogenesis and therapeutics using integration-free patient-derived iPSCsOverexpression of IL-3Rα on CD34+CD38- stem cells defines leukemia-initiating cells in Fanconi anemia AML.Fanconi anemia patients are more susceptible to infection with tumor virus SV40Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 geneIn vivo reversion to normal of inherited mutations in humans.Rescue of replication failure by Fanconi anaemia proteins.TNF-alpha induces leukemic clonal evolution ex vivo in Fanconi anemia group C murine stem cells.A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.Fancb deficiency impairs hematopoietic stem cell function.Hereditary cancer predisposition in children: genetic basis and clinical implications.Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.Fanconi DNA repair pathway is required for survival and long-term maintenance of neural progenitors.The concept and practice of Fanconi Anemia: from the clinical bedside to the laboratory benchAnesthesia and Fanconi anemia: a case report and review of literature.Syndromes with genetic instability: model diseases for (skin) cancerogenesis.Hyper-active non-homologous end joining selects for synthetic lethality resistant and pathological Fanconi anemia hematopoietic stem and progenitor cells.ERCC1 is required for FANCD2 focus formation.Fanconi anemia proteins, DNA interstrand crosslink repair pathways, and cancer therapy.Altered endochondral ossification in collagen X mouse models leads to impaired immune responsesOxidative stress in Fanconi anemia hematopoiesis and disease progression.
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Fanconi anaemia
@ast
Fanconi anaemia
@en
Fanconi anaemia
@nl
type
label
Fanconi anaemia
@ast
Fanconi anaemia
@en
Fanconi anaemia
@nl
prefLabel
Fanconi anaemia
@ast
Fanconi anaemia
@en
Fanconi anaemia
@nl
P2860
P3181
P356
P1476
Fanconi anaemia
@en
P2093
M D Tischkowitz
S V Hodgson
P2860
P3181
P356
10.1136/JMG.40.1.1
P407
P577
2003-01-01T00:00:00Z