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New mutation
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Ebook "The hypothalamic-pituitary-adrenal axis in health and disease: Cushing’s syndrome and beyond" reviews the role of cortisol in the human body, focusing on the effects of excess cortisol due to Cushing’s syndrome as well as the role of the HPA axis in metabolism, inflammation, and neuropsychiatric function. The volume will cover basic mechanistic data, clinical outcomes data, and novel therapies.
323p
tracanhphuonghoa1007
22-04-2024
3
2
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Mutation acquisition is a major mechanism of bacterial antibiotic resistance that remains insufficiently characterised. Here we present RM-seq, a new amplicon-based deep sequencing workflow based on a molecular barcoding technique adapted from Low Error Amplicon sequencing (LEA-seq).
15p
vibransone
28-03-2024
7
2
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The emergence of drug resistance depends on the ability of the genome of cancer cells to constantly mutate and evolve under selective pressures. The generation of new mutations is accelerated when genes involved in DNA repair pathways are altered.
3p
vibransone
28-03-2024
5
2
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We developed subclone multiplicity allocation and somatic heterogeneity (SMASH), a new statistical method for intra-tumor heterogeneity (ITH) inference. SMASH is tailored to the purpose of large-scale association studies with one tumor sample per patient. In a pan-cancer study of 14 cancer types, we studied the associations between survival time and ITH quantified by SMASH, together with other features of somatic mutations.
15p
vibransone
28-03-2024
7
2
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We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We then compared our new data to previous structural variant mutagenesis studies involving the Xq22 region of the human genome.
17p
vibransone
28-03-2024
5
2
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Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians. It is caused by mutations in the CFTR gene, leading to poor hydration of mucus and impairment of the respiratory, digestive, and reproductive organ functions. Advancements in medical care have led to markedly increased longevity of patients with cystic fibrosis, but new complications have emerged, such as early onset of colorectal cancer.
15p
vibransone
28-03-2024
2
2
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APOBEC-driven mutagenesis and functional positive selection of mutated genes may synergistically drive the higher frequency of some hotspot driver mutations compared to other mutations within the same gene, as we reported for FGFR3 S249C. Only a few APOBEC-associated driver hotspot mutations have been identified in bladder cancer (BCa).
20p
vibransone
28-03-2024
6
2
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Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to the discovery of new NDD genes with an excess of recurrent de novo mutations (DNMs) when compared to controls.
16p
vioraclene
31-03-2024
6
2
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Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model
Tuberous sclerosis complex (TSC) is a genetic disease characterized by benign tumor growths in multiple organs and neurological symptoms induced by mTOR hyperfunction. Because the molecular pathology is highly complex and the etiology poorly understood, we employed a defined human neuronal model with a single mTOR activating mutation to dissect the disease-relevant molecular responses driving the neuropathology and suggest new targets for treatment.
14p
vioraclene
31-03-2024
2
1
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Endometrial cancer (EC) is a major gynecological cancer with increasing incidence. It comprises four molecular subtypes with differing etiology, prognoses, and responses to chemotherapy. In the future, clinical trials testing new single agents or combination therapies will be targeted to the molecular subtype most likely to respond.
19p
vibransone
28-03-2024
3
2
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Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new mutation of this gene.
3p
vitiki
30-01-2024
5
2
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Viruses are constantly changing as a result of mutations, and new viral variants are expected to appear over time. The virus that causes coronavirus disease 2019, severe acute respiratory syndrome coronavirus 2, is not excluded from this condition.
6p
vitiki
30-01-2024
5
2
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Ebook "Antibiotic resistance protocols (Third edition)" provides a wide range of different technologies, ranging from conventional growth basic techniques, application of molecular biology, development of resistance mutations, and diagnosis and monitoring treatment response. New and updated chapters cover techniques from the microscopic scale to whole animal models.
169p
lamquandat
28-12-2023
4
2
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Ebook "Hepatitis B virus: Methods and protocols" details protocols and techniques ranging from cell culture studies to in vivo and clinical immunology. The chapters in this book discuss treatments of in vitro infection systems, analysis and quantification of cccDNA and its mutations; in vitro polymerase activity assays; cellular trafficking of core proteins; intracellular calcium metabolism; detection, cloning, and sequencing of HBV markers; and new strategies aimed at exploiting new mechanisms for drug discovery.
301p
lucchinguyen
28-12-2023
5
2
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Patients with BRAF V600E mutated metastatic colorectal cancer (mCRC) have a poor prognosis. The introduction of BRAF targeted therapy with encorafenib and weekly administered cetuximab have shown improved survival with a median progression-free survival (PFS) of 4.3months.
6p
vileonardodavinci
23-12-2023
5
2
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This study aimed to develop and externally validate contrast-enhanced (CE) T1-weighted MRI-based radiomics for the identification of epidermal growth factor receptor (EGFR) mutation, exon-19 deletion and exon-21 L858R mutation from MR imaging of spinal bone metastasis from primary lung adenocarcinoma.
9p
vialfrednobel
23-12-2023
7
4
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With more than 15,000 new cases /year in France and 2,000 deaths, cutaneous melanoma represents approximately 4% of incidental cancers and 1.2% of cancer related deaths. In locally advanced (stage III) or resect‑ able metastatic (stage IV) melanomas, medical adjuvant treatment is proposed and recent advances had shown the benefit of anti-PD1/PDL1 and anti-CTLA4 immunotherapy as well as anti-BRAF and anti-MEK targeted therapy in BRAF V600 mutated tumors.
11p
visharma
20-10-2023
4
2
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Cancer’s hallmark feature is its ability to evolve, leading to metastasis and recurrence. Although genetic mutations and epigenetic changes have been implicated, they don’t fully explain the leukocytic traits that many cancers develop. Cell fusion between cancer and somatic cells, particularly macrophages, has been suggested as an alternative pathway for cancer cells to obtain new traits by acquiring exogenous genetic material.
13p
visharma
20-10-2023
5
2
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Rat sarcoma viral oncogene homolog (RAS) gene mutation is a common molecular event in colorectal cancer (CRC). This study may provide new ideas for optimizing oncology treatment planning for RAS mutant, MSS mCRC patients in the first-line set.
9p
vioracle
29-09-2023
3
2
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Osteoblastic bone reaction (OBR) refers to an increase in bone density at the site of bone metastasis or the appearance of new sclerotic bone lesions after anticancer treatment. OBR can be misunderstood as disease progression. In this study, we aimed to investigate the prevalence and details of OBR and its association with clinical outcomes in patients with epidermal growth factor receptor (EGFR)-mutant non-small cell lung cancer (NSCLC) treated with osimertinib.
9p
vioracle
29-09-2023
3
2
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