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Quoted phrase not found in phrase index: "Severe combined immunodeficiency due to DNA-PKcs deficiency"
Page 1
DNA-PKcs deficiency in human: long predicted, finally found.
van der Burg M, van Dongen JJ, van Gent DC. van der Burg M, et al. Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):503-9. doi: 10.1097/ACI.0b013e3283327e41. Curr Opin Allergy Clin Immunol. 2009. PMID: 19823081 Review.
PURPOSE OF REVIEW: To describe new immunological and molecular findings of DNA-dependent protein kinase catalytic subunit (DNA-PKcs) as a new candidate gene for radiosensitive T-B-severe combined immunodeficiency (SCID), which has implications f …
PURPOSE OF REVIEW: To describe new immunological and molecular findings of DNA-dependent protein kinase catalytic subunit (DNA-PKc …
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M. Aluri J, et al. Front Immunol. 2019 Feb 4;10:23. doi: 10.3389/fimmu.2019.00023. eCollection 2019. Front Immunol. 2019. PMID: 30778343 Free PMC article.
Severe combined immunodeficiency (SCID) represents one of the most severe forms of primary immunodeficiency (PID) disorders characterized by impaired cellular and humoral immune responses. ...Rare forms of SCID like Purine nucleoside phosphoryla …
Severe combined immunodeficiency (SCID) represents one of the most severe forms of primary immunodeficiency …
DNA double strand break repair defects, primary immunodeficiency disorders, and 'radiosensitivity'.
Nahas SA, Gatti RA. Nahas SA, et al. Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):510-6. doi: 10.1097/ACI.0b013e328332be17. Curr Opin Allergy Clin Immunol. 2009. PMID: 19858715 Review.
Other methods measure other aspects of DNA repair; however, their limited specificity often leads to false negatives for predicting 'radiosensitivity', especially clinical radiosensitivity. Lastly, clinical awareness of an overarching syndrome of DSB repair disorders, XCIN …
Other methods measure other aspects of DNA repair; however, their limited specificity often leads to false negatives for predicting ' …
PRKDC mutations in a SCID patient with profound neurological abnormalities.
Woodbine L, Neal JA, Sasi NK, Shimada M, Deem K, Coleman H, Dobyns WB, Ogi T, Meek K, Davies EG, Jeggo PA. Woodbine L, et al. J Clin Invest. 2013 Jul;123(7):2969-80. doi: 10.1172/JCI67349. Epub 2013 Jun 3. J Clin Invest. 2013. PMID: 23722905 Free PMC article.
The patient suffered SCID with reduced or absent T and B cells, as predicted from PRKDC-deficient animal models. Unexpectedly, the patient was also dysmorphic; showed severe growth failure, microcephaly, and seizures; and had profound, globally impaired neuro …
The patient suffered SCID with reduced or absent T and B cells, as predicted from PRKDC-deficient animal models. Unexpectedly, …
SCID dogs: similar transplant potential but distinct intra-uterine growth defects and premature replicative senescence compared with SCID mice.
Meek K, Jutkowitz A, Allen L, Glover J, Convery E, Massa A, Mullaney T, Stanley B, Rosenstein D, Bailey SM, Johnson C, Georges G. Meek K, et al. J Immunol. 2009 Aug 15;183(4):2529-36. doi: 10.4049/jimmunol.0801406. Epub 2009 Jul 27. J Immunol. 2009. PMID: 19635917 Free PMC article.
In this paper, we document substantial developmental growth defects in DNA-PKcs-deficient dogs that are not apparent in SCID mice. Fibroblast cell strains derived from either fetal or adult SCID dogs proliferate poorly in culture and undergo premature replica …
In this paper, we document substantial developmental growth defects in DNA-PKcs-deficient dogs that are not apparent in …
Tumor cell radiosensitivity is a major determinant of tumor response to radiation.
Gerweck LE, Vijayappa S, Kurimasa A, Ogawa K, Chen DJ. Gerweck LE, et al. Cancer Res. 2006 Sep 1;66(17):8352-5. doi: 10.1158/0008-5472.CAN-06-0533. Cancer Res. 2006. PMID: 16951142
A cloned tumor cell line derived from DNA double-strand break repair--deficient severe combined immunodeficient mice was transfected with the double-strand break repair gene DNA-PKcs. ...When transplanted in the same strain of mice and exposed t …
A cloned tumor cell line derived from DNA double-strand break repair--deficient severe combined immunodeficient mice wa …
Lack of spontaneous and radiation-induced chromosome breakage at interstitial telomeric sites in murine scid cells.
Wong HP, Mozdarani H, Finnegan C, McIlrath J, Bryant PE, Slijepcevic P. Wong HP, et al. Cytogenet Genome Res. 2004;104(1-4):131-6. doi: 10.1159/000077477. Cytogenet Genome Res. 2004. PMID: 15162026
To investigate if this is the case we used scid cells in which DNA-PKcs deficiency was corrected. Our results revealed complete disappearance of ITSs in scid cells with functional DNA-PKcs, presumably through chromosome breakage at ITSs, but the …
To investigate if this is the case we used scid cells in which DNA-PKcs deficiency was corrected. Our results revealed …