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A TPM2 mutation causes congenital myopathy with fibre-type disproportion.
Neurol Sci
October 2024
Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.
We report a 9-year-old girl with delayed motor milestones and respiratory difficulty since birth. She presented as a floppy infant, with generalised muscle wasting, dysphagia and facial weakness. The muscle biopsy of the biceps brachii revealed congenital fibre-type disproportion (CFTD) and Sanger sequencing detected a pathogenic variant in the beta-tropomyosin (TPM2) gene (c.
View Article and Find Full Text PDFSingle-cell transcriptomics of pediatric Burkitt lymphoma reveals intra-tumor heterogeneity and markers of therapy resistance.
Leukemia
January 2025
Institute for Cancer Genetics, Columbia University, New York, NY, USA.
Article Synopsis
- Burkitt lymphoma (BL) is a common type of B-cell lymphoma in kids, with many being cured but some showing resistance to treatment.
- Researchers used single-cell transcriptomics to study the differences between patients who respond to therapy and those who don’t, finding that non-responders have more immune cells and a specific gene, Tropomyosin 2 (TPM2), highly expressed in their tumors.
- The study suggests that the level of TPM2 can help predict treatment outcomes for BL patients, highlighting the disease's genetic diversity and potential biomarkers for therapy resistance.
Functional gene signature offers a powerful tool for characterizing clinicopathological features and depicting tumor immune microenvironment of colorectal cancer.
BMC Cancer
September 2024
Department of General Surgery, Wujin Hospital Affiliated With Jiangsu University, Changzhou, Jiangsu Province, China.
Article Synopsis
- Researchers are trying to find better ways to predict how serious colorectal cancer is by looking at specific genes in patients!
- They created a new model that divides patients into high-risk and low-risk groups, which helps understand their cancer better and how they might respond to treatment!
- The study found that high-risk patients have worse signs of cancer and may not respond well to immunotherapy, while certain genes and cells called CAFs could help in figuring out these risks!
Congenital myopathies: pathophysiological mechanisms and promising therapies.
J Transl Med
September 2024
Department of Orthopedics, Binhai County People's Hospital, Binhai, Jiangsu Province, 224500, P. R. China.
Congenital myopathies (CMs) are a kind of non-progressive or slow-progressive muscle diseases caused by genetic mutations, which are currently defined and categorized mainly according to their clinicopathological features. CMs exhibit pleiotropy and genetic heterogeneity. Currently, supportive treatment and pharmacological remission are the mainstay of treatment, with no cure available.
View Article and Find Full Text PDFVariants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Neuromuscul Disord
February 2024
Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Patients with myopathies caused by pathogenic variants in tropomyosin genes TPM2 and TPM3 usually have muscle hypotonia and weakness, their muscle biopsies often showing fibre size disproportion and nemaline bodies. Here, we describe a series of patients with hypercontractile molecular phenotypes, high muscle tone, and mostly non-specific myopathic biopsy findings without nemaline bodies. Three of the patients had trismus, whilst in one patient, the distal joints of her fingers flexed on extension of the wrists.
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