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Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding proteins
Filomena Altieri +11 more
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Advances in Liquid Biopsy for Diagnosis of Bladder Cancer [PDF]
Bladder cancer (BCa) is the most common malignancy of the urinary system. It has a high recurrence rate and requires longterm follow-up. Significant advances in BCa research have been made in recent years; however, the initial diagnosis and follow-up of ...
Jaekwon Seok +4 more
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Intercellular transfer of cancer cell invasiveness via endosome-mediated protease shedding
Overexpression of the transmembrane matrix metalloproteinase MT1-MMP/MMP14 promotes cancer cell invasion. Here we show that MT1-MMP-positive cancer cells turn MT1-MMP-negative cells invasive by transferring a soluble catalytic ectodomain of MT1-MMP ...
Eva Maria Wenzel +9 more
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Neurological damage caused by peripheral nerve injury can be devastating and is a common neurological disorder that, along with muscle disorders, reduces the quality of life.
Hancheol Yeo +10 more
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Cellular reprogramming and hepatocellular carcinoma development
Hepatocellular carcinoma (HCC) is one of the most common cancers, and is also the leading cause of death worldwide. Studies have shown that cellular reprogramming contributes to chemotherapy and/or radiotherapy resistance and the recurrence of cancers.
Yun-Wen, Zheng +2 more
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Autosomal Dominant Optic Atrophy plus syndrome (ADOA, OMIM #125250) is a mitochondrial optic neuropathy characterized by progressive degeneration of retinal ganglion cells (RGCs), leading to worsening visual impairment.
Angela Maria Giada Giovenale +15 more
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Background Peripheral neuropathy is a chronic neurological disorder characterized by inflammation, nerve damage, and impaired function. It arises owing to various factors, including traumatic nerve injury, neuropathic pain due to cancer, and diabetic ...
Yeonjoo Kwak +10 more
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Genetic expansions of the hexanucleotide repeats (GGGGCC) in the C9orf72 gene appear in approximately 40% of patients with familial ALS and 7% of patients with sporadic ALS in the European population, making this mutation one of the most prevalent ...
G. Ruotolo +14 more
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Cellular reprogramming technologies have been developed with different physicochemical factors to improve the reprogramming efficiencies of induced pluripotent stem cells (iPSCs). Ultrasound is a clinically applied noncontact biophysical factor known for
Deogil Kim +5 more
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Collective processes in cellular reprogramming
Epigenetics comprises chemical modifications of the DNA and the proteins that the DNA is wrapped around them. These modifications play key roles in establishing and maintaining cellular identity throughout development and adulthood. In recent years, it has become increasingly clear that these actions are more dynamic than initially believed.
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