1 |
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
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54
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6
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van der Burg M...van Gent DC
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16357942 |
2006 |
2 |
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
6
57
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61
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Ben-Omran TI...Nezarati MM
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16088910 |
2005 |
3 |
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
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6
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O'Driscoll M...Concannon P
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11779494 |
2001 |
4 |
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
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54
61
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Rucci F...Yan CT
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20133615 |
2010 |
5 |
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
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57
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Girard PM...Jeggo PA
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15333585 |
2004 |
6 |
Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity.
6
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Riballo E...Kysela B
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11349135 |
2001 |
7 |
Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient.
6
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Riballo E...Jeggo PA
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10395545 |
1999 |
8 |
Ligase IV syndrome.
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54
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Chistiakov DA...Chistiakov AP
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19467349 |
2009 |
9 |
A novel mutation in a family with DNA ligase IV deficiency syndrome.
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54
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Unal S...Gumruk F
|
19418549 |
2009 |
10 |
CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair.
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61
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O'Driscoll M...Jeggo PA
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18278071 |
2008 |
11 |
DNA repair is limiting for haematopoietic stem cells during ageing.
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61
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Nijnik A...Cornall RJ
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17554302 |
2007 |
12 |
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.
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54
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Toita N...Ariga T
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17345618 |
2007 |
13 |
Identification of a novel motif in DNA ligases exemplified by DNA ligase IV.
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54
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Marchetti C...Jeggo P
|
16735143 |
2006 |
14 |
Structure of an Xrcc4-DNA ligase IV yeast ortholog complex reveals a novel BRCT interaction mode.
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54
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Dore AS...Blundell TL
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16388993 |
2006 |
15 |
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.
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61
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O'Driscoll M...Jeggo PA
|
15279811 |
2004 |
16 |
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
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61
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O'Driscoll M...Goodship JA
|
12640452 |
2003 |
17 |
Hypomorphic mutations in human DNA ligase IV lead to compromised DNA binding efficiency, hydrophobicity and thermal stability.
61
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Maddi ER...Natesh R
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33586762 |
2021 |
18 |
DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection.
61
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Matsumoto K...Morio T
|
32914283 |
2020 |
19 |
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
61
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Madhu R...Newman WG
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32534991 |
2020 |
20 |
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.
61
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Sun B...Wang X
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32471509 |
2020 |
21 |
Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome.
61
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Lun MP...Lehtinen MK
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31541646 |
2019 |
22 |
Correction to: Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.
61
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Schober S...Handgretinger R
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31791281 |
2019 |
23 |
Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.
61
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Schober S...Handgretinger R
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31604460 |
2019 |
24 |
[LIG4 syndrome: a report of four cases and literature review].
61
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Yue T...Shi XD
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30818900 |
2019 |
25 |
A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.
61
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Taskiran EZ...Ozen S
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30617623 |
2019 |
26 |
LIG4 Syndrome Associated with Hypocellular Myeloid Dysplasia.
61
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Tamura S...Sonoki T
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29491294 |
2018 |
27 |
Structures of DNA-bound human ligase IV catalytic core reveal insights into substrate binding and catalysis.
61
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Kaminski AM...Bebenek K
|
29980672 |
2018 |
28 |
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
61
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Staines Boone AT...Lugo Reyes SO
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30719430 |
2018 |
29 |
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
61
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Slack J...Primary Immunodeficiency Treatment Consortium
|
28392333 |
2018 |
30 |
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
61
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Dard R...Doco-Fenzy M
|
28039949 |
2017 |
31 |
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
61
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Fadda A...Cugno C
|
27855655 |
2016 |
32 |
DNA ligase IV syndrome; a review.
61
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Altmann T...Gennery AR
|
27717373 |
2016 |
33 |
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
61
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Felgentreff K...Notarangelo LD
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27063650 |
2016 |
34 |
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.
61
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Sharapova SO...Aleinikova OV
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26774591 |
2016 |
35 |
Molecular and immunological characterization of DNA ligase IV deficiency.
61
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Jiang J...Zhao X
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26762768 |
2016 |
36 |
Integrating Gene Correction in the Reprogramming and Transdifferentiation Processes: A One-Step Strategy to Overcome Stem Cell-Based Gene Therapy Limitations.
61
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Lee SY...Chung SK
|
28074097 |
2016 |
37 |
Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.
61
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Tamura S...Kanazawa N
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26172957 |
2015 |
38 |
Reprint of "The clinical impact of deficiency in DNA non-homologous end-joining".
61
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Woodbine L...Jeggo PA
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24780557 |
2014 |
39 |
The clinical impact of deficiency in DNA non-homologous end-joining.
61
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Woodbine L...Jeggo PA
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24629483 |
2014 |
40 |
A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors.
61
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Tilgner K...Lako M
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23722522 |
2013 |
41 |
Structural insights into the role of domain flexibility in human DNA ligase IV.
61
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Ochi T...Blundell TL
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22658747 |
2012 |
42 |
Nijmegen breakage syndrome (NBS).
61
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Chrzanowska KH...Digweed M
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22373003 |
2012 |
43 |
Requirement for DNA ligase IV during embryonic neuronal development.
61
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Gatz SA...Jeggo PA
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21734301 |
2011 |
44 |
Ligase IV syndrome.
61
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Chistiakov DA
|
20687505 |
2010 |
45 |
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
61
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Gruhn B...Schindler D
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17224058 |
2007 |
46 |
Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development.
61
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Orii KE...McKinnon PJ
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16777961 |
2006 |
47 |
Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.
61
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Callebaut I...de Villartay JP
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16571728 |
2006 |
48 |
The embryonic lethality in DNA ligase IV-deficient mice is rescued by deletion of Ku: implications for unifying the heterogeneous phenotypes of NHEJ mutants.
61
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Karanjawala ZE...Lieber MR
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12531011 |
2002 |
49 |
Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm.
61
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Lee Y...McKinnon PJ
|
11040211 |
2000 |
50 |
DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway.
61
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Frank KM...Alt FW
|
10911993 |
2000 |