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DeBerardinis Lab at UT Southwestern Medical Center

@rjdlab.bsky.social
3.2K followers 192 following 175 posts

I still like small data but I'm not opposed to big data. We study #metabolism, #genetics, #pediatric inborn errors & cancer. Views are my own.

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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 01/10/2026
Pleased to share a new paper with Ling Cai, demonstrating the use of population genomics to identify heterozygous variants in a cobalamin processing gene as a modulator of circulating vitamin B12 levels.
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Reposted by DeBerardinis Lab at UT Southwestern Medical Center
Metabolism in Development and Physiology, Virtual Seminar Series @devmetphys.bsky.social · 01/10/2026
We are very excited for the next Zoom seminar of Metabolism in Development & Physiology! When: Thursday, 8th of October, 4pm CSET/ 2pm GMT/ 9am CDT Our speakers: Prof. Ralph DeBerardinis (UT Southwestern) @rjdlab.bsky.social Shefali Shefali (Indiana University) @iamshef.bsky.social
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 01/10/2026
Thank you! I am looking forward to it too.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 24/09/2026
This beam, signed by hundreds of supporters, will be part of the Children’s Health & UT Southwestern Pediatric Campus in Dallas, now under construction. It’s exciting to see all the support! There’s almost no room left to sign.
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Reposted by DeBerardinis Lab at UT Southwestern Medical Center
WredenbergLab @wredenberglab.bsky.social · 27/08/2026
What does the newborn heart need to complete its metabolic transition? Check out our paper on mitoSAM import in the postnatal mouse heart. Great work by @anarum.bsky.social and collaborators @rjdlab.bsky.social, @trevortippetts.bsky.social. @ki.se , @kawresearch.bsky.social doi.org/10.1126/scia...
science.org
Loss of the mitochondrial SAM transporter reveals a lipoylation-dependent metabolic vulnerability in the postnatal heart
The neonatal heart experiences rapid metabolic growth after birth to meet increasing energetic and biosynthetic demands. How mitochondrial cofactor availability limits this transition remains unclear....
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Reposted by DeBerardinis Lab at UT Southwestern Medical Center
Children's Research Institute at UT Southwestern @cri-utsw.bsky.social · 19/08/2026
Come be part of our #relentlessdiscovery and discover the treatments of tomorrow. Faculty recruitment through Oct. 15 👉 cri.utsw.edu/careers @seanjmorrison.bsky.social @rjdlab.bsky.social @haozhulab.bsky.social @hrshin.bsky.social @peterlylab.bsky.social @henrydebelly.bsky.social
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Reposted by DeBerardinis Lab at UT Southwestern Medical Center
Children's Research Institute at UT Southwestern @cri-utsw.bsky.social · 30/07/2026
TODAY in @dallasnews.com: Read more about McBrayer Lab's #relentlessdiscovery in @science.org, with a cameo from CRI Genetic & Metabolic Disease Program Director @rjdlab.bsky.social 🧪
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Reposted by DeBerardinis Lab at UT Southwestern Medical Center
Frankfurt Cancer Institute @loewe-fci.bsky.social · 25/06/2026
🚨 Deadline extension: Register until July 10 for the #FrankfurtCancerConference 2026! ✨ Highlights: 9 scientific sessions, 32 excellent speakers, short talks, posters, lots of time to connect! 👇 Check out our program and register here: www.frankfurtcancerconference.org
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Children's Research Institute at UT Southwestern @cri-utsw.bsky.social · 15/06/2026
👏👏 On a roll with #MotivationMonday & another successful dissertation defense! Congrats to @haozhulab.bsky.social & @rjdlab.bsky.social lab grad student Roger Liang. Dr. Liang is headed back to medical school to finish up his M.D. Onward! #relentlessdiscovery 🧪
From left, Hao Zhu, M.D., and mentee Roger Liang, Ph.D.A group picture of Zhu and DeBerardnis Lab researchers sit and stand at bar stools for a group picture of a celebration after Roger Liang's dissertation defense.
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Reposted by DeBerardinis Lab at UT Southwestern Medical Center
Ram Chakrabarty @rpc3312.bsky.social · 21/05/2026
Very happy to share our new paper. Together with our wonderful collaborators, we found that L-2-HG, a metabolite often viewed as “toxic,” also has an essential physiological function in mice. www.nature.com/articles/s41...
nature.com
Mitochondrial l-2-hydroxyglutarate is a physiological signalling metabolite - Nature
l-2-Hydroxyglutarate is identified as a legitimate physiological signalling metabolite, and control of its levels is essential for postnatal growth and survival and correct renal development and funct...
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Reposted by DeBerardinis Lab at UT Southwestern Medical Center
Journal of Clinical Investigation @jci.org · 13/05/2026
Advancing our understanding of how metabolism shapes neuronal development: doi.org/10.1172/JCI1... @rjdlab.bsky.social & team generated neural progenitor cells from patients, finding that L2HG epigenetically activates MYC to impair neuronal differentiation—and the effect is reversible
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Reposted by DeBerardinis Lab at UT Southwestern Medical Center
Children's Research Institute at UT Southwestern @cri-utsw.bsky.social · 05/05/2026
We already thought @haozhulab.bsky.social hung the (liver-shaped) moon🌙 & now his #relentlessdiscovery is promulgated. Check out Chp 6, "When Our Bodies Autocorrect," p140 to read how somatic mutations could give us "hope." Great topic, @roxannekhamsi.bsky.social! 🧪 Watch out #booktok 🤓
Hao Zhu stands in front of a window holding the book "Beyond Inheritance: Our Ever-Mutating Cells and a New Understanding of Health."
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 29/04/2026
Congrats on this fantastic paper, @milansavani.com - this technique will uncover many more new aspects of nitrogen metabolism.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 29/04/2026
I am so grateful for this honor - grateful to my mentors, lab, and family. Thank you @seanjmorrison.bsky.social for your support. And how great to be elected with some very good friends and two awesome UTSW colleagues, Elizabeth Chen and Joel Elmquist. Feeling very fortunate today.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 17/04/2026
This kind of stable, sustained support can transform a career: @hhmi-science.bsky.social's #FreemanHrabowski Scholars Program offers early career faculty up to $10M over 10 yrs, plus salary & benefits. Postdoc? This year's competition has a program for you too. Applications open 11/3! bit.ly/4vhC0LA
bit.ly
Early Career Faculty Program | Freeman Hrabowski Scholars | HHMI
The Freeman Hrabowski Scholars Program offers comprehensive support to outstanding early career faculty committed to scientific excellence in their own research, and to fostering labs that expand the ...
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 19/03/2026
New paper from Dr. Wen Gu on the impact of L-2-hydroxyglutarate deficiency on neural stem cell function and neuronal differentiation. Interesting connection between an IEM and chronic oncogene activation. Thanks to Dr. Bushra Afroze and her patients for participating. www.jci.org/articles/vie...
jci.org
JCI - L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 03/03/2026
Incredible chance to learn about genetics, from the fundamentals to the latest science. I attended this course when I was a PhD student in the 90s and have lectured in it for the last dozen or so. And science aside, there's nowhere better to be in late July than Bar Harbor, ME. See you there.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 28/02/2026
#RareDiseaseDay2026: “think of zebras (rare diseases) when you hear hoofbeats.” On Feb 28, we wear stripes to recognize patients with rare diseases and support rare disease research in CRI and the McDermott Center at UT Southwestern. Thanks to the Rare Disease CoE for all you do for these patients.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 23/02/2026
12 panels total. No supplemental data. There are dot blots and a northern blot. It says "data not shown" at one point. That was a different era.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 23/02/2026
My first co-authored paper appeared 30 years ago today. pubmed.ncbi.nlm.nih.gov/8626737/
pubmed.ncbi.nlm.nih.gov
Human enteric defensins. Gene structure and developmental expression - PubMed
Paneth cells, secretory epithelial cells of the small intestinal crypts, are proposed to contribute to local host defense. Both mouse and human Paneth cells express a collection of antimicrobial proteins, including members of a family of antimicrobial peptides named defensins. In this study, data fr …
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 19/02/2026
Great time in Boston, as always! Thanks for the invitation!
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 15/01/2026
www.cancermoleculartherapeutics.org/event-detail...
cancermoleculartherapeutics.org
CMTRA 2026 Annual Meeting | Cancer Molecular The
Please use Join us for the CMTRA 2026 Annual Meeting at the spectacular Snowbird Mountain Resort in the Wasatch Mountains of Salt Lake City, Utah. Engage in insightful discussions, network with indust...
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Reposted by DeBerardinis Lab at UT Southwestern Medical Center
Children's Research Institute at UT Southwestern @cri-utsw.bsky.social · 31/12/2025
That’s a wrap on the past 12 months, with even more #relentlessdiscovery to come in 2026. cri.utsw.edu/discoveries/ @seanjmorrison.bsky.social @rjdlab.bsky.social @haozhulab.bsky.social 🧪 #stemcells #regeneration #CancerResearch #metabolism #NYE2025 #NYE2026
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Children's Research Institute at UT Southwestern @cri-utsw.bsky.social · 23/12/2025
ONLINE NOW in @pnas.org: Agathocleous Lab, collaborators discover why humans, some animals may need intermittent vitamin C deficiency: to survive parasite infections. 🧪 Read more ⬇️ cri.utsw.edu/loss-of-vita... #relentlessdiscovery
cri.utsw.edu
Loss of vitamin C synthesis protects animals from schistosomiasis - Children's Medical Center Research Institute (CRI) | Dallas Texas
Agathocleous Lab, collaborators discover vitamin C deficiency can benefit animals by depriving vitamin from parasitic worms DALLAS – Dec. 23, 2025 – Scientists at Children’s Medical Center Research In...
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 24/12/2025
My understanding is that he’s a specialist. Foggy only. Like a left handed reliever
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 22/12/2025
This is why I write a little bit of magical thinking into all abstracts.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 18/12/2025
Just a nice lab happy hour before the holidays
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 12/12/2025
An excellent opportunity for summer undergraduate research - the Cech Fellows Program! Applications due in 10 days: www.hhmi.org/programs/cec...
hhmi.org
Summer Undergraduate Research Experience (REU) | Cech Fellows | HHMI
The Cech Fellows Program is a paid, nine-week summer research experience empowering the next generation of scientific leaders.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 25/11/2025
I have been saying this. It’s an abomination. The only thing that comes close is the Quizno’s spongmonkeys.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 11/11/2025
A true legend. www.bcm.edu/about-us/lea...
bcm.edu
In Memoriam: Bert W. O'Malley, M.D.
In Memoriam: Bert W. O'Malley, M.D....
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Reposted by DeBerardinis Lab at UT Southwestern Medical Center
Josh Mendell @mendell-lab.bsky.social · 10/11/2025
Regulated decay of microRNAs plays a critical role in controlling body size in mammals! Check out our new paper in @genesdev.bsky.social and see thread previously posted with our pre-print 👇 for more info. Congrats to Collette LaVigne, Jaeil Han, and all authors! genesdev.cshlp.org/cgi/content/...
genesdev.cshlp.org
Plagl1 and Lrrc58 control mammalian body size by triggering target-directed microRNA degradation of miR-322 and miR-503
A biweekly scientific journal publishing high-quality research in molecular biology and genetics, cancer biology, biochemistry, and related fields
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
Here's the beautiful paper from @chembiohub.bsky.social reporting NUDT5's role in purine synthesis. I cannot emphasize enough how gracious and open these authors were when we all realized we were working on the same mechanism.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
19/Work from the Yang group: www.jci.org/articles/vie...
jci.org
JCI - The NUDIX hydrolase NUDT5 regulates thiopurine metabolism and cytotoxicity
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
18/Work from the Jourdain group: www.biorxiv.org/content/10.1...
biorxiv.org
Uridine-sensitized screening identifies genes and metabolic regulators of nucleotide synthesis
Nucleotides are essential for nucleic acid synthesis, signaling, and metabolism, and can be synthesized de novo or through salvage. Rapidly proliferating cells require large amounts of nucleotides, ma...
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
17/NUDT5 is having a moment – see excellent work from other labs reporting roles for NUDT5 in purine metabolism. These include papers by Kilian Huber and Stefan Kubicek, also out today (see link), and work by Alexis Jourdain and Jun Yang (see next posts) www.science.org/doi/10.1126/...
science.org
A non-enzymatic role of Nudix hydrolase 5 in repressing purine de novo synthesis
Folate metabolism is intricately linked to purine de novo synthesis through the incorporation of folate-derived one-carbon units into the purine scaffold. By investigating chemical and genetic depende...
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
16/TL/DR: The DNPB pathway has been known since the 1950s, and thiopurines have been used almost as long. NUDT5 regulates the activity of this pathway, and sensitivity to drugs that block it.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
15/A fascinating open question is exactly what induces the association between NUDT5 and PPAT, and whether/how this triggers disassembly of the purinosome.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
14/When purines are abundant, the purinosome disassembles, but this requires NUDT5-PPAT binding. So NUDT5 controls both the biochemistry and cell biology of DNPB initiation.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
13/Also interesting: DNPB involves a cytosolic complex called the purinosome, which colocalizes the DNPB enzymes together to channel metabolites along the pathway. NUDT5 regulates the purisonome through the same residues that bind PPAT.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
12/Interestingly, NUDT5’s ability to suppress DNPB explains how it confers 6TG sensitivity. 6TG induces the same DNA damage in wild-type and NUDT5-deficient cells, but only the latter cells survive. Blocking residual DNPB kills NUDT5-deficient cells treated with 6TG.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
11/The NUDT5-PPAT complex seems to hold PPAT into an inactive oligomer (likely a tetramer) that suppresses DNPB. In vitro, NUDT5 reduces PPAT enzymatic activity, much better than purine nucleotides alone. But this requires that NUDT5 associate with PPAT.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
10/Mutating a single NUDT5 residue from the interface with PPAT eliminated NUDT5’s ability to bind PPAT and confer sensitivity to 6TG, both in cultured cells and xenografted tumors.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
9/Zheng found that NUDT5’s catalytic activity is dispensable for its ability to confer sensitivity to 6TG. Rather, he found through interactome databases and computational analysis of coevolutionary signals that NUDT5 physically associates with PPAT.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
8/NUDT5’s involvement was surprising. R5P provides the pentose for purines, but Zheng had shown that mitochondrial suppression massively increases R5P abundance by activating the pentose phosphate pathway. He thought NUDT5 might have a different role.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
7/The screen identified HPRT1, the salvage enzyme that converts 6TG into toxic thiopurine nucleotides. That made sense. It also identified NUDT5, a hydrolase that cleaves ADP-ribose to produce ribose-5-phosphate (R5P).
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
6/Thiopurines are salvaged to produce thiopurine nucleotides, which inhibit DNPB and incorporate into DNA, resulting in DNA damage and cell death. So a screen for suppressors of 6TG toxicity could identify genes required to activate salvage or suppress DNPB.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
5/Zheng first examined data from a CRISPR screen performed by John Doench and David Root, designed to identify genes required for sensitivity to thiopurine chemotherapeutics like 6-thioguanine (6TG). pmc.ncbi.nlm.nih.gov/articles/PMC...
pmc.ncbi.nlm.nih.gov
Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9
CRISPR-Cas9-based genetic screens are a powerful new tool in biology. By simply altering the sequence of the single-guide RNA (sgRNA), Cas9 can be reprogrammed to target different sites in the genome with relative ease, but the on-target activity ...
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
4/Indeed, PPAT’s enzymatic activity is blocked by purine nucleotides in vitro, but typically this requires very high levels of purines. It seemed as if something was missing.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
3/The textbook answer is that when salvage is active and purines are abundant, DNPB is suppressed through feedback inhibition at the level of the initiating enzymes, including the amidotransferase PPAT.
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DeBerardinis Lab at UT Southwestern Medical Center @rjdlab.bsky.social · 06/11/2025
2/The project arose from Zheng’s previous work reporting that mitochondrial dysfunction suppresses DNPB and induces salvage. Because salvage is required for growth of cells with mitochondrial defects, Zheng asked how cells switch off DNPB during salvage. www.sciencedirect.com/science/arti...
sciencedirect.com
Electron transport chain inhibition increases cellular dependence on purine transport and salvage
Mitochondria house many metabolic pathways required for homeostasis and growth. To explore how human cells respond to mitochondrial dysfunction, we pe…
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