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acute myeloid leukemia 2

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Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic

Frontiers of Medicine   Pages 1006-1009 doi: 10.1007/s11684-023-1000-3

Abstract: Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic

Keywords: family craniofacial microsomia     Identification novel mutations    

Treatment of advanced non-small cell lung cancer with driver mutations: current applications and future

Frontiers of Medicine 2023, Volume 17, Issue 1,   Pages 18-42 doi: 10.1007/s11684-022-0976-4

Abstract: With the improved understanding of driver mutations in non-small cell lung cancer (NSCLC), expandingTherefore, this review aimed to classify the management of NSCLC with driver mutations based on the geneThirdly, we discuss the effectiveness of ICIs for NSCLC with driver mutations and the combined therapeutictreatment strategies for the new oncogenic alternations, and proposed the perspective of NSCLC with driver mutationsThis review will guide clinicians to design tailored treatments for NSCLC with driver mutations.

Keywords: non-small cell lung cancer     driver mutations     treatment strategy     resistant mechanism     immune-checkpoint    

Characteristics of compensatory mutations in the

Shengfen Wang, Yang Zhou, Bing Zhao, Xichao Ou, Hui Xia, Yang Zheng, Yuanyuan Song, Qian Cheng, Xinyang Wang, Yanlin Zhao

Frontiers of Medicine 2020, Volume 14, Issue 1,   Pages 51-59 doi: 10.1007/s11684-019-0720-x

Abstract: with mutations and the relation between mutations and tuberculosis (TB) transmission.Twenty-nine nonsynonymous single mutations and three double mutations were identified.The mutations at locus 483 (11.3%) were predominant, and the mutations at V483G, W484G, I491V, L516PFifteen new mutations in the gene were identified.Rifampin resistance and mutations at locus 531 were significantly associated with mutations.

Keywords: tuberculosis     drug resistance     compensatory mutations     transmission    

122-binding site polymorphism at the interleukin-1 α gene and its interaction with hepatitis B virus mutations

Du Yan, Han Xue, Pu Rui, Xie Jiaxin, Zhang Yuwei, Cao Guangwen

Frontiers of Medicine 2014, Volume 8, Issue 2,   Pages 217-226 doi: 10.1007/s11684-014-0326-2

Abstract: the IL-1A gene and its multiplicative interactions with hepatitis B virus (HBV) mutationsHBV mutations were determined by direct sequencing.Multivariate logistic regression analyses were performed to test the associations of rs3783553, mutations

Keywords: hepatocellular carcinoma (HCC)     interaction     miRNA-122-binding site     IL-1A     rs3783553     hepatitis B virus (HBV) mutations    

Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation

Frontiers of Medicine 2022, Volume 16, Issue 4,   Pages 627-636 doi: 10.1007/s11684-020-0815-4

Abstract: Its dysfunction, caused by either fusions or mutations, is frequently reported in acute myeloid leukemiaHowever, RUNX1 mutations have been largely under-explored compared with RUNX1 fusions mainlybased on 1741 patients with AML, we report a unique expression pattern associated with RUNX1 mutationswere mainly distributed in the Runt domain and almost mutually exclusive with NPM1 mutations.This study revealed the distinct gene expression pattern of RUNX1 mutations and the underlying

Keywords: RUNX1     gene mutation     acute myeloid leukemia     transcriptional repression     DNA methylation    

Genomic Mutations within the Host Microbiome: Adaptive Evolution or Purifying Selection Review

Jiachao Zhang,Rob Knight,

Engineering 2023, Volume 20, Issue 1,   Pages 96-102 doi: 10.1016/j.eng.2021.11.018

Abstract: More human microbiome research projects—particularly those that explore genomic mutations withinWe also explore the correlation between microbial genomic mutations and common metabolic diseases, andFinally, we discuss advances in methods and algorithms for annotating and analyzing microbial genomic mutations

Keywords: Gut microbiota     Genomic mutations     Adaptive evolution     Purifying selection     Single-nucleotide variants    

Association of novel mutations and heplotypes in the preS region of hepatitis B virus with hepatocellular

Jia-Xin XIE, Jian-Hua YIN, Qi ZHANG, Rui PU, Wen-Ying LU, Hong-Wei ZHANG, Guang-Wen CAO, Jun ZHAO, Hong-Yang WANG,

Frontiers of Medicine 2010, Volume 4, Issue 4,   Pages 419-429 doi: 10.1007/s11684-010-0160-0

Abstract: The association of viral mutations and haplotypic carriages with mutations in the preS region of hepatitis, and G3191C were significantly associated with increased risks of HCC in genotype C, whereas these mutationsConclusively, the association of HBV mutations in the preS region with HCC depends on HBV genotype andhaplotypic carriage with two or more mutations that are each associated with an increased risk of HCC

Keywords: hepatitis B virus     hepatocellular carcinoma     mutation     genotype     haplotype    

Molecular pathogenesis of acute myeloid leukemia: A diverse disease with new perspectives

Felicitas THOL, Arnold GANSER

Frontiers of Medicine 2010, Volume 4, Issue 4,   Pages 356-362 doi: 10.1007/s11684-010-0220-5

Abstract: Over recent years, novel gene mutations have been found in patients with AML.These mutations can be divided into two important categories, class I mutations that confer a proliferationadvantage and class II mutations that inhibit myeloid differentiation.Screening for some of these mutations is now part of the initial diagnostic work-up in newly diagnosedBesides chromosomal rearrangements and gene mutations, epigenetic regulation of genes – meaning

Keywords: acute myeloid leukemia     mutations     risk stratification    

Genetic evidence in planar cell polarity signaling pathway in human neural tube defects

Chunquan Cai, Ouyan Shi

Frontiers of Medicine 2014, Volume 8, Issue 1,   Pages 68-78 doi: 10.1007/s11684-014-0308-4

Abstract:

Neural tube defects (NTDs) are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure and has been implicated in the pathogenesis of NTDs in animal models and human cohorts. This review summarizes the cumulative results of recent studies on PCP signaling pathway and human NTDs. These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs.

Keywords: planar cell polarity     neural tube defects     rare mutations    

Emerging molecular subtypes and therapeutic targets in B-cell precursor acute lymphoblastic leukemia

Jianfeng Li, Yuting Dai, Liang Wu, Ming Zhang, Wen Ouyang, Jinyan Huang, Saijuan Chen

Frontiers of Medicine 2021, Volume 15, Issue 3,   Pages 347-371 doi: 10.1007/s11684-020-0821-6

Abstract: Most of these profiles are associated with recurrent non-overlapping rearrangements or hotspot point mutationsexpression, PAX5alt (diverse alterations, including rearrangements, intragenic amplifications, or mutations), and hotspot mutations PAX5 (p.Pro80Arg) with biallelic alterations, IKZF1 (p.Asn159Tyr), and ZEB2

Keywords: BCP-ALL     subtypes     translocation     aneuploidy     sequence mutations    

Research progress on human infection with avian influenza H7N9

Xiaoxin Wu, Lanlan Xiao, Lanjuan Li

Frontiers of Medicine 2020, Volume 14, Issue 1,   Pages 8-20 doi: 10.1007/s11684-020-0739-z

Abstract: Meanwhile, the H7N9 virus continues to accumulate mutations, and its affinity for the human respiratoryconcerning H7N9, we reviewed the clinical and epidemiological characteristics of H7N9, the key gene mutations

Keywords: H7N9     pandemic     epidemiology     mutations     vaccine     influenza    

Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis

Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou

Frontiers of Medicine 2018, Volume 12, Issue 5,   Pages 550-558 doi: 10.1007/s11684-017-0567-y

Abstract:

Cystic fibrosis (CF) is a fatal autosomal-recessive disease caused by mutations in the CF transmembraneThe compound heterozygous mutations of the CFTR gene were detected in two infants, and a homozygousAmong the six identified mutations, two are novel point mutations (c.1526G>C and c.3062C>T) that

Keywords: cystic fibrosis     pseudo-Bartter syndrome     hypokalemic alkalosis     CFTR gene     mutations     infants     diagnosis    

Title Author Date Type Operation

Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic

Journal Article

Treatment of advanced non-small cell lung cancer with driver mutations: current applications and future

Journal Article

Characteristics of compensatory mutations in the

Shengfen Wang, Yang Zhou, Bing Zhao, Xichao Ou, Hui Xia, Yang Zheng, Yuanyuan Song, Qian Cheng, Xinyang Wang, Yanlin Zhao

Journal Article

122-binding site polymorphism at the interleukin-1 α gene and its interaction with hepatitis B virus mutations

Du Yan, Han Xue, Pu Rui, Xie Jiaxin, Zhang Yuwei, Cao Guangwen

Journal Article

Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation

Journal Article

Genomic Mutations within the Host Microbiome: Adaptive Evolution or Purifying Selection

Jiachao Zhang,Rob Knight,

Journal Article

Association of novel mutations and heplotypes in the preS region of hepatitis B virus with hepatocellular

Jia-Xin XIE, Jian-Hua YIN, Qi ZHANG, Rui PU, Wen-Ying LU, Hong-Wei ZHANG, Guang-Wen CAO, Jun ZHAO, Hong-Yang WANG,

Journal Article

Molecular pathogenesis of acute myeloid leukemia: A diverse disease with new perspectives

Felicitas THOL, Arnold GANSER

Journal Article

Genetic evidence in planar cell polarity signaling pathway in human neural tube defects

Chunquan Cai, Ouyan Shi

Journal Article

Emerging molecular subtypes and therapeutic targets in B-cell precursor acute lymphoblastic leukemia

Jianfeng Li, Yuting Dai, Liang Wu, Ming Zhang, Wen Ouyang, Jinyan Huang, Saijuan Chen

Journal Article

Research progress on human infection with avian influenza H7N9

Xiaoxin Wu, Lanlan Xiao, Lanjuan Li

Journal Article

Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis

Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou

Journal Article