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Luijsterburglab @luijsterburglab.bsky.social · 9d

New paper alert! 🚨

We report two Cypriot XP-A patients with a mild phenotype caused by the homozygous c.389G>A (p.R130K) variant.

👉 The variant affects splicing, leading to reduced XPA mRNA/protein but residual NER activity.

www.sciencedirect.com/science/arti...

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Reposted by Luijsterburglab

European Journal of Human Genetics @ejhg-journal.bsky.social · Aug 17

📢 ERCC1-hepatorenal syndrome is defined as a severe, multisystem DNA repair disorder associated with high morbidity and mortality, including an elevated cancer risk. 🧬 @luijsterburglab.bsky.social

www.nature.com/articles/s41...

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines - European Journal of Human Genetics

European Journal of Human Genetics - A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines

www.nature.com

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Luijsterburglab @luijsterburglab.bsky.social · Aug 5

Dive into the step-by-step choreography of transcription-coupled DNA repair.

In our new review published in Nature Cell Biology, we explore what we know and what’s next in this exciting field of research!

www.nature.com/articles/s41...

The molecular basis of human transcription-coupled DNA repair - Nature Cell Biology

This Review discusses transcription-coupled DNA repair in response to the stalling of RNA polymerase II on different types of DNA lesions and highlights the molecular details for the different steps i...

www.nature.com

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Luijsterburglab @luijsterburglab.bsky.social · Aug 1

Happy to share I have been promoted to Full Professor of Transcription and DNA Repair! Huge thanks to all current and former Luijsterburg Lab members. Your hard work, dedication, and inspiring spirit made this possible! 💥🧬🙏 www.luijsterburglab.org

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Luijsterburglab @luijsterburglab.bsky.social · Jul 24

Are transcription-associated histone marks involved in restoring transcription after DNA damage in human cells?

Read the surprising outcome in our new preprint 👇

www.biorxiv.org/content/10.1...

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Luijsterburglab @luijsterburglab.bsky.social · Jul 19

Very proud of this international collaborative team effort published in EJHG defining ERCC1-hepatorenal syndrome as a severe multisystem DNA repair disorder with high mortality and pediatric liver cancer risk. Thanks to all families and collaborators.

www.nature.com/articles/s41...

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines - European Journal of Human Genetics

European Journal of Human Genetics - A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines

www.nature.com

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Reposted by Luijsterburglab

Barbara van Loon @barbaravlb.bsky.social · May 23

📢 Only 2 more days left until the early bird registration deadline! Secure your spot and join us at the 8th EU-US Conference on Endogenous DNA Damage and Repair!

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Luijsterburglab @luijsterburglab.bsky.social · Apr 9

This is an in-person meeting. A key aspect is community building and networking.

Luijsterburglab @luijsterburglab.bsky.social · Apr 9

@puckknipscheer.bsky.social, @luijsterburglab.bsky.social, @marcelvanvugt.bsky.social, @sylvie-noordermeer.bsky.social, @titiasixma.bsky.social, @marcelvanvugt.bsky.social, @marteijnlab.bsky.social

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Luijsterburglab @luijsterburglab.bsky.social · Apr 9

@evisoutoglou.bsky.social, @jstingele.bsky.social, @jsvejstrup.bsky.social, @nitikataneja.bsky.social, @haicovanattikum.bsky.social, @thedownslab.bsky.social, @jacqjacobs.bsky.social

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Luijsterburglab @luijsterburglab.bsky.social · Apr 9

@andrewblackford.bsky.social, @cejkalab.bsky.social, @rosschapmanlab.bsky.social, @durocher1.bsky.social, @duxinlab.bsky.social, @kfugger.bsky.social, @serenanikzainal.bsky.social, @icrlordlab.bsky.social, @lapassmore.bsky.social, @bjornschumacher.bsky.social, @agnelsfeir.bsky.social

Luijsterburglab @luijsterburglab.bsky.social · Apr 9

A must for all DNA repair aficionados!

Egmond DNA Repair Meeting → April 19–24, 2026 🇳🇱
✔️ Confirmed top speakers
✔️ Ample opportunities for talks & posters

Don’t miss it: dnarepairmeeting-egmond2026.com

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Luijsterburglab @luijsterburglab.bsky.social · Mar 4

Awesome work, Nima, as always! I call (R)DIBs on choosing the celebratory drinks next time we meet.

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Luijsterburglab @luijsterburglab.bsky.social · Feb 18

It was wonderful to have our lab symposium yesterday, filled with great science, new ideas, good company, and delicious food. What a pleasure it is to work with such a fantastic group of people!

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Luijsterburglab @luijsterburglab.bsky.social · Jan 24

The abstract mentions DNA breaks, which are not repaired by TC-NER. This could be a form of transcription-coupled DNA break repair, perhaps.

Luijsterburglab @luijsterburglab.bsky.social · Jan 24

Our letter-to-the-editor providing evidence that ARK2N is not a core factor in transcription-coupled DNA repair is now online in PNAS | www.pnas.org/doi/10.1073/...

PNAS

Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...

www.pnas.org

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Luijsterburglab @luijsterburglab.bsky.social · Dec 28

Congratulations, Kinga!

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Luijsterburglab @luijsterburglab.bsky.social · Dec 23

@haicovanattikum.bsky.social @thedownslab.bsky.social @puckknipscheer.bsky.social @titiasixma.bsky.social @marcelvanvugt.bsky.social

Luijsterburglab @luijsterburglab.bsky.social · Dec 23

Mark your calendar: the next Egmond DNA repair meeting will take place in 2026 from April 19 - 24!

You can pre-register to receive announcement here: forms.lumc.nl/lumc2/Egmond

Registration will open by June 2025/