Publications by authors named "L Matthies"

Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have been associated with autosomal recessive intellectual disability and epileptic encephalopathy. We identified bi-allelic KICS2 variants in eleven affected individuals presenting with intellectual disability and epilepsy.

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Article Synopsis
  • The Prime-2-CoV_Beta is a new COVID-19 vaccine designed to target the SARS-CoV-2 spike and nucleocapsid antigens, and was tested in a phase I clinical trial involving 60 healthy adults in Germany from June 2022 to June 2023.
  • The trial showed that the vaccine had a good safety profile with only mild to moderate side effects, such as pain at the injection site, fatigue, and headache, and no serious adverse events were reported.
  • Immunization resulted in strong immune responses, particularly at higher doses, leading to significant increases in antibodies against SARS-CoV-2 and its variants, indicating the vaccine's potential for broader protection
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In Neurofibromatosis type 1 (NF1), peripheral nerve sheaths tumors are common, with cutaneous neurofibromas resulting in significant aesthetic, painful and functional problems requiring surgical removal. To date, determination of adequate surgical resection margins-complete tumor removal while attempting to preserve viable tissue-remains largely subjective. Thus, residual tumor extension beyond surgical margins or recurrence of the disease may frequently be observed.

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Biomaterials and coating techniques unlock major benefits for advanced medical therapies. Here, we explored layer-by-layer (LbL) deposition of silk fibroin (SF) by dip coating to deploy homogeneous films on different materials (titanium, magnesium, and polymers) frequently used for orthopedic and other bone-related implants. Titanium and magnesium specimens underwent preceding plasma electrolytic oxidation (PEO) to increase hydrophilicity.

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Article Synopsis
  • The study explores an optical method using shifted-excitation Raman difference spectroscopy and deep learning to identify antiresorptive drug-related osteonecrosis of the jaw (ARONJ).
  • The techniques allowed for a clear distinction between osteonecrotic and healthy bone tissues with perfect sensitivity and specificity, validated through traditional histological approaches.
  • The findings suggest that this noninvasive method could significantly enhance diagnosis and treatment strategies for ARONJ in clinical settings.
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