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Causative Mutation gene - Crossref

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Last Updated: 04 July 2022

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Abstract 3930: Targeted cancer gene sequencing identifies potential causative novel candidate mutations among Caucasian colon carcinogenesis

Patients from specific ethnic groups are uncertain about the underlying genetic causes of sporadic colorectal cancer's underlying genetic determinant gene mutations. We're here to discuss the identification of distinct novel variants from adenoma and CRC patients with mismatch repair genes MHS3 and MSH6, as well as in PIK3CA and APC. [39% 49% for APC] [31/63 = 49% for MSH3, MSH6], and APC mutations were likely deleterious MMR, PIK3CA and APC mutations, respectively, raising the value of a broad cancer gene panel [31/63 = 49% for APC] [19/63 = 48 percent for PIK3CA] [19/63 = 39 percent 49% for PIK3CA] [19/APC] [39] These results add to the relevance of APC, PIK3CA genes in CRC onset but also the possibility of underestimating the MSI-H in sporadic CRC, as many of the novel mutations in MMR genes identified here were of a deleterious type. Identifying potential causative novel candidate mutations among Caucasian colon carcinogenesis is identified by targeted cancer gene sequencing.

Source link: https://doi.org/10.1158/1538-7445.am2015-3930


Atypical symptoms of malignant hyperthermia: A rare causative mutation in the RYR1 gene

Abstract: The skeletal muscle skeletal muscle is a autosomal dominant genetic disorder characterized by inhaled general anesthetic agents or succinylcholine, as well as a hypermetabolic state and muscle rigidity. And experienced physicians have trouble diagnosing MH, which can result in delays in diagnosis and increased mortality as the progression of the disease is rapid or less apparent. After inhaled anesthetics, we report a rare instance of a 36-year-old man who underwent surgical excision and internal fixation of the left clavicle. A new mutation c. 8519G> A in the RYR1 gene that may be related to MH has been identified with MH. In his daughter's reproductive genetic test, the gene mutation was also present. This case highlighted the importance of MH and its atypical clinical signs in this context. The presence of dyspnea, hypotension, unremitting hyperthermia, tachycardia, and elevated myoglobin in serum may exacerbate the clinical diagnosis of suspected MH.

Source link: https://doi.org/10.1515/med-2021-0396


The Coincidence of Chromosome 15 Aberrations and β2-Microglobulin Gene Mutations Is Causative for the Total Loss of Human Leukocyte Antigen Class I Expression in Melanoma

On 15q21, we asked if abnormalities of chromosome 15, carrying the u03b22M gene, were causing the HLA class I-u2013negative phenotype of melanoma cells, rather than u03b22M gene mutations. In three of the four cell lines, the absence of heterozygosity testing of microsatellite markers located on chromosome 15 in three of the four cell lines indicated a substantial lack of chromosome 15 samples. The coexistence of apparently normal and rearranged versions of chromosome 15 in three cell lines was discovered by an ethical review, whereas the fourth cell line only showed rearranged versions. Conclusions: Our results show that the complete absence of HLA class I expression in melanoma cells is due to the occurrence of the following mutations: chromosome 15 loss of genetic material and u03b22M gene mutations.

Source link: https://doi.org/10.1158/1078-0432.ccr-05-2174


Cancer-Causative Mutations Occurring in Early Embryogenesis

Abstracts molecular mutations in normal tissues can occur early in embryogenesis and be associated with hereditary cancer syndromes when it comes to changes in cancer susceptibility genes. The results of paired tumor/blood sequencing data of 35,310 patients with cancer revealed 36 pathogenic mosaic variants affecting CSGs, most of which were not detected by prior clinical genetic testing. In all individuals tested, these CSG mosaic variants were consistently present at varying degrees of allelic fractions in microdissected normal tissues from various embryonic lineages, indicating their early embryonic origins, likely before gastrulation, and likely asymmetric propagation. In 91 percent of cases, the CSG affected by a mosaic model was present in 91 percent of cases, and tumors had the same pathologic and/or genomic characteristics of inactivation of the respective CSGs, establishing a causal link between CSG mosaic variants that arise in early embryogenesis and the growth of apparently sporadic tumors.

Source link: https://doi.org/10.1158/2159-8290.cd-21-1110


Genetic basis of speciation and adaptation: from loci to causative mutations

Answering these long-running questions about evolutionary biology is both essential for knowing how extinct animals have evolved and predicting how organisms and ecosystems will respond to changing environments in the future. The evolution of genome sequencing technologies has made it possible to not only investigate genetic architecture, but also identify the genetic locations that support adaptation and speciation in natural populations. Moreover, recent advancements in genome editing technologies have made it possible to investigate the functions of each candidate gene in organisms from natural populations.

Source link: https://doi.org/10.1098/rstb.2020.0503


SURF1 mutations causative of Leigh syndrome impair human neurogenesis

We induced pluripotent stem cells from LS patients carrying homozygous SURF1 mutations and performed biallelic correction via CRISPR/Cas9. In comparison to corrected cells, SURF1 iPS demonstrated impaired neuronal differentiation. The cerebrol organoids from SURF1 iPS were smaller and recapitulated the neurogenesis defects. We discovered SURF1 gene augmentation as a potential treatment for neurogenesis in LS patients with SURF1 mutations as an interventional goal.

Source link: https://doi.org/10.1101/551390

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions