Mammalian DNA ligases; roles in maintaining genome integrity

Sallmyr, Annahita; Bhandari, Seema Khattri; Naila, Tasmin; Tomkinson, Alan E.

doi:10.1016/j.jmb.2023.168276

Journal of Molecular Biology

2024

DOI: 10.1016/j.jmb.2023.168276

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Mammalian DNA ligases; roles in maintaining genome integrity

Annahita Sallmyr,

Seema Khattri Bhandari,

Tasmin Naila

et al.

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Cited by 9 publications

References 180 publications

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A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature

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Clinical Case Reports

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LIG4 syndrome is an exceptionally rare primary immune deficiency. It is an autosomal recessive genetic disease, falling within the spectrum of genetic disorders characterized by impaired DNA damage response mechanisms. Common clinical characteristics encompass microcephaly, growth retardation, developmental delays, facial deformities, variable immune deficiencies, pancytopenia, heightened susceptibility to malignant tumors, and significant clinical and cellular radiosensitivity. Hematopoietic stem cell transplantation (HSCT) is a curative treatment for LIG4 syndrome and may mitigate the long‐term risk of developing lymphoid malignancies by improving tumor surveillance.

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A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature

Jiang,

Wang,

et al. 2024

Clinical Case Reports

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Mammalian DNA ligases; roles in maintaining genome integrity

Cited by 9 publications

References 180 publications

A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature

A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature

DNA-PK: A synopsis beyond synapsis

Mitochondrial DNA damage, repair, and replacement in cancer

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