A rapid LNA-PCR assay from blood lysate without DNA purification for the diagnosis of homozygous SMN1 deletion in spinal muscular atrophy
- Gökçe Güllü Amuran
- Büşra Polat
- Mustafa Akkiprik
Latest Research and Reviews
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Neutrophil serine proteases inhibit thermogenic capacity of visceral white adipose tissue
Neutrophil infiltration and neutrophil serine protease activation regulates visceral fat browning and thermogenic activity during cold exposure in male mice.
- Lufengzi Yuan
- Xiaoping Wu
- Ruby Lai Chong Hoo
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ATR inhibitors synergise with mitomycin C to enhance cytotoxicity in patient-derived non-muscle invasive bladder cancer organoids
- Alba Zuidema
- Levi Nijland
- Richard P. Meijer
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Genetic and molecular analyses of HDAC11 in diabetes and its complications
- Yi Liang
- Guangwen Zhu
- Qiu Chen
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A RAC1 SUMOylation switch governs breast cancer metastasis
- Ana García-Casas
- Angélica Martínez-López
- Sonia Castillo-Lluva
News and Comment
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Reprogramming translation for rare disease therapy: challenges posed by large genes
- Bikash R. Pattnaik
- Jose A. Sahel
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Sound effects: paradigm gene therapy approach installs hearing in children and adolescents born deaf
- Juliane W. Schott
- Michael Morgan
- Axel Schambach
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Comment on "Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome—a matched cohort study" by Skarin Nordenvall et al.
- Agathe Hercent
- Mickael Mary
- Dimitri Tchernitchko
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Metabolism as the biochemical language for mechanistic biomedical AI
Artificial intelligence (AI) excels at prediction but often remains disconnected from biological mechanisms. We propose that metabolism may serve as a biochemical language through which AI systems can gain mechanistic understanding of how molecular states govern physiological function.
- Li Li
- Yujue Wang
- Zeping Hu
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Prostatic acid phosphatase: a rediscovered target in prostate cancer
Prostatic acid phosphatase (ACP3) is overexpressed in prostate cancer and synthesized at low levels in most physiological tissues. The first in-human application of a radioligand targeting ACP3 for staging of prostate cancer through positron emission tomography showed promising results in a head-to-head comparison with an established prostate-specific membrane antigen (PSMA) radiotracer. ACP3 could be a complementary or alternative target to PSMA for imaging and therapy of prostate cancer.
- Daniel Koehler
- Tobias Maurer
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Synthetic polymer receptors for cold-chain-free paper diagnostics
Paper-based diagnostics remain constrained by the thermodynamic fragility of biological recognition elements. Synthetic polymers, such as molecularly imprinted polymers, offer a synthetic route to storage-resilient, cold-chain-independent platforms.
- Ayşegül Bülbül
- Adil Denizli