Jonathan Bohlen

There seems to be a problem with incentives for replication here. If the replicators cant replicate the data, the paper wont get published and neither will their work on replicating it. They shoot themselves in the leg. And that is ignoring the problem that NOONE will agree to try to replicate.

TLR7 mutations leading to enhanced TLR7 signaling in humans Three studies in this issue of JHI extend our understanding of the genetic, molecular, and clinical characteristics of human disease associated with a gain

This is the first News & Views of @jhumimmunity.org and it is a must-read !
TLR7 mutations leading to enhanced TLR7 signaling in humans url: rupress.org/jhi/article/...

They're just really trying to milk the whole publishing landscape dry... Scientists need to stop feeding this machine. The OA initiative is nice, but not if 80-90% of the public money goes into companies with >50% profit margins... All this could go through university presses and societies.

Very nice! Congrats to all involved!

😅

What did the central dogma do to you? 🫠

Super cool! thank you

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease. New study by Qinhua Zhou (Fudan University), Jacinta Bustamante @institutimagine.bsky.social, Jonathan Bohlen @jonathanbohlen.bsky.social @lmumuenchen.bsky.social & colleagues rupress.org/jhi/article/...

Ruthless...

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease X-linked MCTS1 deficiency causes susceptibility to mycobacterial disease. Four new patients carried three previously undescribed truncating or loss-of-expr

JHI @jhumimmunity.org is the journal of the primary immunodeficiency societies worldwide, hosted by Rockefeller University Press. Open access: doi.org/10.70962/jhi... With Qinhua Zhou, Jacinta Bustamante, Jean-Laurent @casanovalab.bsky.social , and colleagues from six countries.

Building on our 2023 paper, we identified three new MCTS1 variants, including the first hypomorphic variant (p.W175*). Even partial loss of MCTS1 translation reinitiation activity can cause susceptibility to mycobacteria.

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease X-linked MCTS1 deficiency causes susceptibility to mycobacterial disease. Four new patients carried three previously undescribed truncating or loss-of-expr

New paper in the Journal of Human Immunity! We report complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease -- four new families from Iran, Oman, China, and the USA. doi.org/10.70962/jhi...

X-linked MCTS1 deficiency causes susceptibility to mycobacterial disease. In @jhumimmunity.org, Zhou et al. show that report 4 new patients carrying 3 previously undescribed truncating or loss-of-expression variants, presenting w/ BCG disease or M. abscessus infection. rupress.org/jhi/article/...

X-linked MCTS1 deficiency causes susceptibility to mycobacterial disease. Zhou, Bustamante, Bohlen et al. show that report 4 new patients carrying 3 previously undescribed truncating or loss-of-expression variants, presenting w/ BCG disease or M. abscessus infection. rupress.org/jhi/article/...

Not yet, but I would love to!!

Our lab website is live! 🥳 We study how mRNA translation controls immune cell function and how defects in the protein synthesis machinery cause human disease. Come say hello and learn about what we do at the Gene Center Munich. bohlenlab.com

Active transport of tRNAs facilitates distributed protein synthesis https://www.biorxiv.org/content/10.64898/2026.01.26.698744v1

Support dogs guide blind people all day long but never become blind? What can we learn?

Emmy Noether-Förderung für zwei LMU-Forschende Astrophysikerin Jiamin Hou und Molekularbiologe Jonathan Bohlen erhalten Förderungen aus dem Emmy Noether-Programm der DFG.

🙌 Herzlichen Glückwunsch! @jonathanbohlen.bsky.social und Jiamin Hou wurden von der @dfg.de im Rahmen des Emmy Noether-Programms ausgezeichnet. Die Fördersumme beträgt jeweils 1,85 Mio. Euro für einen Zeitraum von sechs Jahren. #LMUMuenchen #Astrophysik #Molekularbiologie www.lmu.de/de/newsroom/...

I don't want to be a huge stickler and I actually really like this paper, congrats to the authors for the nice work. But isn't the use of human eyes in the graphical abstract rather misleading for a paper that contains entirely mouse experiments?

Awesome, thanks for the enthusiasm!!

Finally, I do think it is really worth understanding what you're doing when analyzing such data, otherwise what you get out might not be very useful! So a bioinfo course could be a great idea! Good luck!

Is this question just abou data analysis or also about producing a new dataset in an experiment? Most published datasets have already count matrices submitted to repositories such as NCBI Geo or similar, maybe you wont need to do the analysis. Otherwise usegalaxy.org is the easiest solution I know.

Thank you Kilian!!

Thank you!!!

Huge thanks also to all the amazing collaborators and colleagues all around the world, who made this happen. Finally, many, many thanks to the patients and their families for supporting and enabling our research. fin/n

Huge thanks and congrats go to exceptional first authors Taja Vatovec (in my lab) and my friend Anna-Lena Neehus @alneehus.bsky.social in Boston! Furthermore, many thanks to @casanovalab.bsky.social for letting me start this project in Paris. 5/n

We also found striking defects in B cell function in vivo, by studying the response to SARS.CoV2 mRNA vaccination in a subset of patients. For many more interesting obsevations and experiments, please read the paper! 4/n

CBL deficient mice have defects in T cell development and function. Yet, surprisingly, the CBL deficient T cells of the patients were largely unaffected. Conversely, B cell development was strongly perturbed. 3/n

We studied patients with somatic CBL deficiency. These patients often have transient myeloproliferation in childhood, and as we published recently (www.jci.org/articles/vie...) chronic autoinflammation. We noticed that our cohort of CBL deficient patients had a high rate of severe infections. 2/n