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Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans

Variants of the 3′−5′ exonuclease TREX1 can cause retinal vasculopathy with cerebral leukoencephalopathy (RVCL). Here, the authors show that RVCL-associated TREX1 variants trigger DNA damage in humans, mice, and Drosophila, and render cells more vulnerable to DNA damage inducing agents.

Samuel D. Chauvin
Shoichiro Ando
Jonathan J. Miner
ResearchOpen Access01 Jun 2024
Nature Communications

Volume: 15, P: 1-23
Uropathogenic Escherichia coli infection-induced epithelial trained immunity impacts urinary tract disease outcome

Uropathogenic Escherichia coli infection induces epigenetic remodelling and trained immune responses in bladder epithelial stem cells that affect susceptibility to recurrent infection.

Seongmi K. Russell
Jessica K. Harrison
Scott J. Hultgren
ResearchOpen Access10 Apr 2023
Nature Microbiology

Volume: 8, P: 875-888
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

William Harbour, Anne Bowcock and colleagues identify recurrent mutations at codon 625 of SF3B1 in uveal melanomas. These mutations occur in low-grade tumors and are associated with favorable prognosis.

J William Harbour
Elisha D O Roberson
Anne M Bowcock
Research13 Jan 2013
Nature Genetics

Volume: 45, P: 133-135
A mucosal imprint left by prior Escherichia coli bladder infection sensitizes to recurrent disease

Previous Escherichia coli infection epigenetically alters host epithelial cell maturation and COX-2 mediated inflammation to predispose mice for future recurrent infection.

Valerie P. O'Brien
Thomas J. Hannan
Scott J. Hultgren
Research31 Oct 2016
Nature Microbiology

Volume: 2, P: 1-10
Genomic analysis of partial 21q monosomies with variable phenotypes

Elisha D O Roberson
Elizabeth Squibb Wohler
Jonathan Pevsner
Research08 Sept 2010
European Journal of Human Genetics

Volume: 19, P: 235-238
Transcriptomes of peripheral blood mononuclear cells from juvenile dermatomyositis patients show elevated inflammation even when clinically inactive

Elisha D. O. Roberson
Rosana A. Mesa
Lauren M. Pachman
ResearchOpen Access07 Jan 2022
Scientific Reports

Volume: 12, P: 1-22
C5b-9 and MASP2 deposition in skin and bone marrow microvasculature characterize hematopoietic stem cell transplant-associated thrombotic microangiopathy

Sonia Elhadad
Amy Chadburn
Jeffrey Laurence
Correspondence04 Jun 2022
Bone Marrow Transplantation

Volume: 57, P: 1445-1447

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Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans

Uropathogenic Escherichia coli infection-induced epithelial trained immunity impacts urinary tract disease outcome

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

A mucosal imprint left by prior Escherichia coli bladder infection sensitizes to recurrent disease

Genomic analysis of partial 21q monosomies with variable phenotypes

Transcriptomes of peripheral blood mononuclear cells from juvenile dermatomyositis patients show elevated inflammation even when clinically inactive

C5b-9 and MASP2 deposition in skin and bone marrow microvasculature characterize hematopoietic stem cell transplant-associated thrombotic microangiopathy

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Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans

Uropathogenic Escherichia coli infection-induced epithelial trained immunity impacts urinary tract disease outcome

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

A mucosal imprint left by prior Escherichia coli bladder infection sensitizes to recurrent disease

Genomic analysis of partial 21q monosomies with variable phenotypes

Transcriptomes of peripheral blood mononuclear cells from juvenile dermatomyositis patients show elevated inflammation even when clinically inactive

C5b-9 and MASP2 deposition in skin and bone marrow microvasculature characterize hematopoietic stem cell transplant-associated thrombotic microangiopathy

Search

Quick links