Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients
نویسندگان
چکیده
منابع مشابه
Induced Pluripotent Stem Cells: Challenges and Opportunities
Regenerative capacity of mammals is limited and can rarely regenerate a specific organ or tissue fully. Due to these limitations, regenerative medicine seeks efficient and safe cell sources for regeneration of damaged tissues and organs or treatment for incurable diseases. Human embryonic stem cells (HESCs) hold two important properties called self renewal and pluripotency. However, the use of ...
متن کاملNijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.
BACKGROUND Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder with hypersensitivity to ionising radiation. The clinical phenotype is characterised by congenital microcephaly, mild dysmorphic facial appearance, growth retardation, immunodeficiency, and greatly increased risk for lymphoreticular malignancy. Most NBS patients are of Slavic origin and homozy...
متن کاملNijmegen breakage syndrome (NBS)
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndro...
متن کاملMolecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells
Fragile X syndrome (FXS) is caused by the absence of the fragile X mental retardation protein (FMRP). We have previously generated FXS-induced pluripotent stem cells (iPSCs) from patients' fibroblasts. In this study, we aimed at unraveling the molecular phenotype of the disease. Our data revealed aberrant regulation of neural differentiation and axon guidance genes in FXS-derived neurons, which...
متن کاملSyndrome of the month Nijmegen breakage syndrome
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants VI and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The imm...
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ژورنال
عنوان ژورنال: Cell Reports
سال: 2016
ISSN: 2211-1247
DOI: 10.1016/j.celrep.2016.07.071