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| http://dx.doi.org/10.1002/ajmg.a.32136 | DOI Listing |
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Gone with the Species: From Gene Loss to Gene Extinction.
Front Biosci (Schol Ed)
December 2024
Department of Biological Sciences, Virtual University of Pakistan, 55150 Lahore, Punjab, Pakistan.
Background: Vertebrae protein-coding genes exhibit remarkable diversity and are organized into many gene families. These gene families have emerged through various gene duplication events, the most prominent being the two rounds of whole-genome duplication (WGD). The current research project analyzed a unique class of genes called "singletons".
View Article and Find Full Text PDFWhole-genome sequencing revealed a novel structural variant in causing autosomal dominant Alport syndrome: A case report.
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Service de Toxicologie et Génopathies, CHU Lille, F-59000, Lille, France.
Next-generation sequencing has substantially transformed the genomic diagnosis of individuals affected by inherited renal disorders. Indeed, accurate and rapid diagnostic for patients with suspected genetic kidney diseases is not only important for prognosis and patient management but also for family counseling. Alport syndrome, a genetic disease primarily affecting the basement membrane, is characterized by hematuria, progressive kidney failure, hearing impairment, as well as ocular abnormalities and stems from mutations in genes encoding type IV collagen.
View Article and Find Full Text PDFMulti-omics analysis-based clinical and functional significance of a novel prognostic and immunotherapeutic gene signature derived from amino acid metabolism pathways in lung adenocarcinoma.
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Molecular Pathology & Genetics Division, Kanagawa Cancer Center Research Institute, Yokohama, Japan.
Background: Studies have shown that tumor cell amino acid metabolism is closely associated with lung adenocarcinoma (LUAD) development and progression. However, the comprehensive multi-omics features and clinical impact of the expression of genes associated with amino acid metabolism in the LUAD tumor microenvironment (TME) are yet to be fully understood.
Methods: LUAD patients from The Cancer Genome Atlas (TCGA) database were enrolled in the training cohort.
Patterns of immune evasion in triple-negative breast cancer and new potential therapeutic targets: a review.
Front Immunol
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Medical Oncology Department, Hospital Arnau de Vilanova, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO), Valencia, Spain.
Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer characterized by the absence of progesterone and estrogen receptors and low (or absent) HER2 expression. TNBC accounts for 15-20% of all breast cancers. It is associated with younger age, a higher mutational burden, and an increased risk of recurrence and mortality.
View Article and Find Full Text PDFTDERS, an exosome RNA-derived signature predicts prognosis and immunotherapeutic response in clear cell renal cell cancer: a multicohort study.
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Department of Urology, Changhai Hospital, Naval Medical University (Second Military Medical University), Shanghai, China.
Background: Tumor-derived exosomes are involved in tumor progression and immune invasion and might function as promising noninvasive approaches for clinical management. However, there are few reports on exosom-based markers for predicting the progression and adjuvant therapy response rate among patients with clear cell renal cell carcinoma (ccRCC).
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