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Mutation
Clinical Significance of Telomerase Reverse-Transcriptase Promoter Mutations in Hepatocellular Carcinoma
Article
Year: 2021
Pages: 1
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DUSP12 regulates the tumorigenesis and prognosis of hepatocellular carcinoma
Article
Year: 2021
Pages: 1
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Germline
HOXB13
G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank
Article
Year: 2020
Pages: 4
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Comparative Performance of Line Probe Assay (Version 2) and Xpert MTB/RIF Assay for Early Diagnosis of Rifampicin-Resistant Pulmonary Tuberculosis
Article
Year: 2021
Pages: 8
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Homozygous deletion, c. 1114-1116del, in exon 8 of the
CRPPA
gene causes congenital muscular dystrophy in Chinese family: A case report
Article
Year: 2021
Pages: 6
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Roles for growth factors and mutations in metastatic dissemination
Article
Year: 2021
Pages: 15
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Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia
Article
Year: 2021
Pages: 1
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Transcriptomic Landscape of Lower Grade Glioma Based on Age-Related Non-Silent Somatic Mutations
Article
Year: 2021
Pages: 15
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Insight into the AcrAB-TolC Complex Assembly Process Learned from Competition Studies
Article
Year: 2021
Pages: 1
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A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
Article
Year: 2021
Pages: 1
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The Molecular Landscape Influencing Prognoses of Epithelial Ovarian Cancer
Article
Year: 2021
Pages: 1
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Functional Effects In Silico Prediction for Androgen Receptor Ligand-Binding Domain Novel I836S Mutation
Article
Year: 2021
Pages: 1
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Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype
Article
Year: 2021
Pages: 1
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NPM1 Mutational Status Underlines Different Biological Features in Pediatric AML
Article
Year: 2021
Pages: 1
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An
FGA
Frameshift Variant Associated with Afibrinogenemia in Dachshunds
Article
Year: 2021
Pages: 1
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Aborted Cardiac Arrest in LQT2 Related to Novel
KCNH2
(
hERG
) Variant Identified in One Lithuanian Family
Article
Year: 2021
Pages: 1
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Deleterious Mutations in the TPO Gene Associated with Familial Thyroid Follicular Cell Carcinoma in Dutch German Longhaired Pointers
Article
Year: 2021
Pages: 1
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CLN8
Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report
Article
Year: 2021
Pages: 1
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Genomic Analysis of Response to Neoadjuvant Chemotherapy in Esophageal Adenocarcinoma
Article
Year: 2021
Pages: 1
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Detection of Q129H Immune Escape Mutation in Apparently Healthy Hepatitis B Virus Carriers in Southwestern Nigeria
Article
Year: 2021
Pages: 1
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Development of a User-Friendly Pipeline for Mutational Analyses of HIV Using Ultra-Accurate Maximum-Depth Sequencing
Article
Year: 2021
Pages: 1
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Mutation Profiles, Glycosylation Site Distribution and Codon Usage Bias of Human Papillomavirus Type 16
Article
Year: 2021
Pages: 1
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Actionability evaluation of biliary tract cancer by genome transcriptome analysis and Asian cancer knowledgebase
Article
Year: 2021
Pages: 13
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Computed Tomography Morphological Classification of Lung Adenocarcinoma and Its Correlation with Epidermal Growth Factor Receptor Mutation Status: A Report of 1075 Cases
Article
Year: 2021
Pages: 12
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Genome Instability-Derived Genes Are Novel Prognostic Biomarkers for Triple-Negative Breast Cancer
Article
Year: 2021
Pages: 1
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Decreased prevalence of the
Plasmodium falciparum Pfcrt
K76T and
Pfmdr1
and N86Y mutations post-chloroquine treatment withdrawal in Katete District, Eastern Zambia
Article
Year: 2021
Pages: 1
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Investigation of the
Rv3065
,
Rv2942
,
Rv1258c
,
Rv1410c
, and
Rv2459
efflux pump genes expression among multidrug-resistant
Mycobacterium tuberculosis
clinical isolates
Article
Year: 2021
Pages: 1
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Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature
Article
Year: 2021
Pages: 1
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Analysis of EGFR Mutation Status in Algerian Patients with Non-Small Cell Lung Cancer
Article
Pages: 6
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Biallelic variants in
ADARB1
, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Article
Year: 2020
Pages: 10
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Mutation Profiles of eGFP-Tagged Small Ruminant Morbillivirus During 45 Serial Passages in Ribavirin-Treated Cells
Article
Year: 2021
Pages: 1
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Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients
Article
Year: 2021
Pages: 1
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A novel cryptic splice site mutation in
COL1A2
as a cause of osteogenesis imperfecta
Article
Year: 2021
Pages: 1
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ResidueFinder: extracting individual residue mentions from protein literature
Article
Year: 2021
Pages: 1
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Targeted Next-Generation Sequencing of Circulating Tumor DNA Mutations among Metastatic Breast Cancer Patients
Article
Year: 2021
Pages: 11
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A novel
ABCD1
G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review
Article
Year: 2020
Pages: 6
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The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications
Article
Year: 2020
Pages: 6
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Mate-pair sequencing identifies a cryptic
BMPR2
mutation in hereditary pulmonary arterial hypertension
Article
Year: 2021
Pages: 1
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Revealing the Threat of Emerging SARS-CoV-2 Mutations to Antibody Therapies
Article
Year: 2021
Pages: 1
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Molecular Characteristics of Human Adenovirus Type 3 Circulating in Parts of China During 2014–2018
Article
Year: 2021
Pages: 1
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Emerging mutation in SARS-CoV-2 spike: Widening distribution over time in different geographic areas
Article
Year: 2021
Pages: 12
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Diagnostic pre-screening method based on N-gene dropout or delay to increase feasibility of SARS-CoV-2 VOC B.1.1.7 detection
Article
Year: 2021
Pages: 1
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Seq12, Seq12m, and Seq13m, peptide analogues of the spike glycoprotein shows antiviral properties against SARS-CoV-2: An
in silico
study through molecular docking, molecular dynamics simulation, and MM-PB/GBSA calculations
Article
Year: 2021
Pages: 1
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Bone Involvement in Hyperphosphatemic Familial Tumoral Calcinosis: A New Phenotypic Presentation
Article
Year: 2021
Pages: 1
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Estimating COVID-19 cases infected with the variant alpha (VOC 202012/01): an analysis of screening data in Tokyo, January-March 2021
Article
Year: 2021
Pages: 1
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Rapid, inexpensive methods for exploring SARS CoV-2 D614G mutation
Article
Year: 2021
Pages: 1
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Two novel mutations in
PADI6
and
TLE6
genes cause female infertility due to arrest in embryonic development
Article
Year: 2021
Pages: 9
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CoVrimer: A tool for aligning SARS-CoV-2 primer sequences and selection of conserved/degenerate primers
Article
Year: 2021
Pages: 11
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X-linked hypophosphatemic rickets: a new mutation
Article
Year: 2020
Pages: 4
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The rate and molecular spectrum of mutation are selectively maintained in yeast
Article
Year: 2021
Pages: 1
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The variation among sites of protein structure divergence is shaped by mutation and scaled by selection
Article
Year: 2020
Pages: 8
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Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI
Article
Year: 2021
Pages: 1
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Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report
Article
Year: 2021
Pages: 1
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Aminoacyl‐tRNA synthetases in Charcot–Marie–Tooth disease: A gain or a loss?
Article
Year: 2020
Pages: 19
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The Antigenicity of Epidemic SARS-CoV-2 Variants in the United Kingdom
Article
Year: 2021
Pages: 1
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Genome‐wide analysis of SARS‐CoV‐2 strains circulating in Vietnam: Understanding the nature of the epidemic and role of the D614G mutation
Article
Year: 2021
Pages: 1
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The surveillance of spike protein for patients with COVID‐19 detected in Hong Kong in 2020
Article
Year: 2021
Pages: 1
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Identification of germline cancer predisposition variants during clinical ctDNA testing
Article
Year: 2021
Pages: 1
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Laser interstitial thermal therapy for NPRL3-related epilepsy with multiple seizure foci: A case report
Article
Year: 2021
Pages: 1
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Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China
Article
Year: 2021
Pages: 1
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Patient profiles as an aim to optimize selection in the second line setting: the role of aflibercept
Article
Year: 2021
Pages: 9
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Identification of p.Arg205Cys in
CASR
in an autosomal dominant hypocalcaemia type 1 pedigree
A case report
Article
Year: 2021
Pages: 1
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Insilico study on the effect of SARS-CoV-2 RBD hotspot mutants’ interaction with ACE2 to understand the binding affinity and stability
Article
Year: 2021
Pages: 10
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Estimation of the occurrence rates of
IDH1
and
IDH2
mutations in gliomas and the reconsideration of
IDH
-wildtype anaplastic astrocytomas: an institutional experience
Article
Year: 2021
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Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome
Article
Pages: 4
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Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria
Article
Year: 2021
Pages: 1
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Update 2016–2018 of the Nationwide Danish Fungaemia Surveillance Study: Epidemiologic Changes in a 15-Year Perspective
Article
Year: 2021
Pages: 1
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A gain-of-function NLRP3 3′-UTR polymorphism causes miR-146a-mediated suppression of NLRP3 expression and confers protection against sepsis progression
Article
Year: 2021
Pages: 1
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Three Novel
EPCAM
Variants Causing Tufting Enteropathy in Three Families
Article
Year: 2021
Pages: 1
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The Putative Roles and Functions of Indel, Repetition and Duplication Events in Alphavirus Non-Structural Protein 3 Hypervariable Domain (nsP3 HVD) in Evolution, Viability and Re-Emergence
Article
Year: 2021
Pages: 1
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The Combined Human Genotype of Truncating
TTN
and
RBM20
Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy
Article
Year: 2021
Pages: 1
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Detection of S-HBsAg Mutations in Patients with Hematologic Malignancies
Article
Year: 2021
Pages: 1
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Sitosterolemia With Atherosclerosis in a Child: A Case Report
Article
Year: 2021
Pages: 1
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Novel
AQP2
Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus
Article
Year: 2021
Pages: 1
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DNMT3A Mutation-Induced CDK1 Overexpression Promotes Leukemogenesis by Modulating the Interaction between EZH2 and DNMT3A
Article
Year: 2021
Pages: 1
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Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients
Article
Year: 2021
Pages: 1
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S100A gene family: immune-related prognostic biomarkers and therapeutic targets for low-grade glioma
Article
Year: 2021
Pages: 20
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Repeats expansions in
ATXN2
,
NOP56, NIPA1
and
ATXN1
are not associated with ALS in Africans
Article
Year: 2021
Pages: 6
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A Case of Annular Epidermolytic Ichthyosis Resulting from a de Novo Mutation, p.I479T, in
Keratin 1
Gene
Article
Pages: 1
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Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors
Article
Year: 2021
Pages: 11
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SARS-CoV-2 Mutations and their Viral Variants
Article
Year: 2021
Pages: 13
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Putative Causal Variant on
Vlgr1
for the Epileptic Phenotype in the Model Wistar Audiogenic Rat
Article
Year: 2021
Pages: 1
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Differences in the Fatty Acid Profile, Morphology, and Tetraacetylphytosphingosine-Forming Capability Between Wild-Type and Mutant
Wickerhamomyces ciferrii
Article
Year: 2021
Pages: 1
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CYTOPLASMIC-MEMBRANE EGFR PREDICTS EXPANDED RAS MUTATION STATUS IN COLORECTAL CARCINOMAS?
Article
Pages: 1
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A precision medicine classification for treatment of acute myeloid leukemia in older patients
Article
Year: 2021
Pages: 1
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Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
Article
Year: 2021
Pages: 1
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Clinical significance of FBXW7 tumor suppressor gene mutations and expression in human colorectal cancer: a systemic review and meta-analysis
Article
Year: 2021
Pages: 1
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Differential Sensitivity of Wild-Type and BRAF-Mutated Cells to Combined BRAF and Autophagy Inhibition
Article
Year: 2021
Pages: 11
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A Missense Mutation rs781536408 (c.2395G>A) of
TYK2
Affects Splicing and Causes Skipping of Exon18
in vivo
Article
Year: 2021
Pages: 1
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Identification of Clinical Relevant Molecular Subtypes of Pheochromocytoma
Article
Year: 2021
Pages: 1
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Brief Research Report Regional Difference in TRAF2 and TRAF3 Gene Mutations in Colon Cancers
Article
Year: 2021
Pages: 1
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A MexR Mutation Which Confers Aztreonam Resistance to
Pseudomonas aeruginosa
Article
Year: 2021
Pages: 1
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Relationship of HER2 Alteration and Microsatellite Instability Status in Colorectal Adenocarcinoma
Article
Year: 2021
Pages: 10
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Transcript-Level Dysregulation of
BCL2
Family Genes in Acute Myeloblastic Leukemia
Article
Year: 2021
Pages: 1
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Genetic expression and mutational profile analysis in different pathologic stages of hepatocellular carcinoma patients
Article
Year: 2021
Pages: 1
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Major Oncogenic Drivers and Their Clinicopathological Correlations in Sporadic Childhood Papillary Thyroid Carcinoma in Belarus
Article
Year: 2021
Pages: 1
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Dissection of
PIK3CA
Aberration for Cervical Adenocarcinoma Outcomes
Article
Year: 2021
Pages: 1
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AML-Related NPM Mutations Drive p53 Delocalization into the Cytoplasm with Possible Impact on p53-Dependent Stress Response
Article
Year: 2021
Pages: 1
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Detecting lncRNA–Cancer Associations by Combining miRNAs, Genes, and Prognosis With Matrix Factorization
Article
Year: 2021
Pages: 1
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Temporal landscape of mutational frequencies in SARS-CoV-2 genomes of Bangladesh: possible implications from the ongoing outbreak in Bangladesh
Article
Year: 2021
Pages: 13
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Therapeutic peptides of
Mucuna pruriens
L.: Anti‐genotoxic molecules against human hepatocellular carcinoma and hepatitis C virus
Article
Year: 2021
Pages: 7
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Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
Article
Year: 2021
Pages: 1
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Functional and Structural Characterization of SARS-Cov-2 Spike Protein: An
In Silico
Study
Article
Pages: 10
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Recurrent KRAS, KIT and SF3B1 mutations in melanoma of the female genital tract
Article
Year: 2021
Pages: 1
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Identification of a novel heterozygous mutation in the
MITF
gene in an Iranian family with Waardenburg syndrome type II using next‐generation sequencing
Article
Year: 2021
Pages: 1
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Stereochemical Trajectories of a Two-Component Regulatory System PmrA/B in a Colistin-Resistant
Acinetobacter baumannii
Clinical Isolate
Article
Year: 2021
Pages: 9
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Mutations in domain V of
Mycoplasma pneumoniae
23S rRNA and clinical characteristics of pediatric
M. pneumoniae
pneumonia in Nanjing, China
Article
Year: 2021
Pages: 1
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SARS-CoV-2 reinfection with a virus harboring mutation in the Spike and the Nucleocapsid proteins in Panama
Article
Year: 2021
Pages: 4
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A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head
Article
Year: 2021
Pages: 1
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A PI polyamide–TPP conjugate targeting a mtDNA mutation induces cell death of cancer cells with the mutation
Article
Year: 2021
Pages: 9
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Integrated metabolome and transcriptome analysis of the anthocyanin biosynthetic pathway in relation to color mutation in miniature roses
Article
Year: 2021
Pages: 1
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LRP1B mutation: a novel independent prognostic factor and a predictive tumor mutation burden in hepatocellular carcinoma
Article
Year: 2021
Pages: 10
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Neurological Characteristics of Pediatric Glycogen Storage Disease
Article
Year: 2021
Pages: 1
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Examining the interactions scorpion venom peptides (HP1090, Meucin-13, and Meucin-18) with the receptor binding domain of the coronavirus spike protein to design a mutated therapeutic peptide
Article
Year: 2021
Pages: 1
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Deleterious mutation V369M in the mouse
GCGR
gene causes abnormal plasma amino acid levels indicative of a possible liver–α-cell axis
Article
Year: 2021
Pages: 1
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Evolution and Application of Genome Editing Techniques for Achieving Food and Nutritional Security
Article
Year: 2021
Pages: 1
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Melanotic Neuroectodermal Tumor of Infancy: A Clinicopathological and
BRAF
V600E Mutation Study of 11 Cases
Article
Year: 2021
Pages: 1
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Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes
Article
Year: 2021
Pages: 1
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Whole‐exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities
Article
Year: 2021
Pages: 1
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Computational-Driven Epitope Verification and Affinity Maturation of TLR4-Targeting Antibodies
Article
Year: 2021
Pages: 1
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Effects of
WNT1
c.110 T>C and c.505G>T mutations on osteoblast differentiation via the WNT1/β-catenin signaling pathway
Article
Year: 2021
Pages: 1
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SOX10
Mutation Screening for 117 Patients with Kallmann Syndrome
Article
Year: 2021
Pages: 1
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CDH1
Gene Mutation Hereditary Diffuse Gastric Cancer Outcomes: Analysis of a Large Cohort, Systematic Review of Endoscopic Surveillance, and Secondary Cancer Risk Postulation
Article
Year: 2021
Pages: 1
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Proliferation of SARS-CoV-2 B.1.1.7 Variant in Pakistan-A Short Surveillance Account
Article
Year: 2021
Pages: 1
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Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study
Article
Year: 2021
Pages: 1
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Next-generation sequencing-based identification of EGFR and NOTCH2 complementary mutations in non-small cell lung cancer
Article
Year: 2021
Pages: 1
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Sequential everolimus for angiomyolipoma associated with tuberous sclerosis complex: a prospective cohort study
Article
Year: 2021
Pages: 1
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A case report of malignant hyperthermia in a patient with myotonic dystrophy type I
A CARE-compliant article
Article
Year: 2021
Pages: 1
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Highly Efficient and Comprehensive Identification of Ethyl Methanesulfonate-Induced Mutations in
Nicotiana tabacum
L. by Whole-Genome and Whole-Exome Sequencing
Article
Year: 2021
Pages: 1
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遗传性凝血因子Ⅴ缺乏症九例基因分析
Article
Pages: 6
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Identification of a Polymorphism in the N Gene of SARS-CoV-2 That Adversely Impacts Detection by Reverse Transcription-PCR
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Year: 2020
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Rapid identification of mutations caused by fast neutron bombardment in
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Year: 2021
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An
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Year: 2021
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Recent progress on the mutations of SARS-CoV-2 spike protein and suggestions for prevention and controlling of the pandemic
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Year: 2021
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Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype
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Year: 2021
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COL2A1
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Year: 2021
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Association of
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Year: 2021
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Year: 2021
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Editorial: 2021 European Society for Medical Oncology (ESMO) Recommendations on Laboratory Diagnostics for
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Year: 2021
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A high mutation load of m.14597A>G in
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Year: 2021
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Structural Analysis of the Novel Variants of SARS-CoV-2 and Forecasting in North America
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Rely on Each Other: DNA Binding Cooperativity Shapes p53 Functions in Tumor Suppression and Cancer Therapy
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Year: 2021
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Dual R108K and G189D Mutations in the NS1 Protein of A/H1N1 Influenza Virus Counteract Host Innate Immune Responses
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Year: 2021
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Year: 2021
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Molecular Analysis of SARS-CoV-2 Circulating in Bangladesh during 2020 Revealed Lineage Diversity and Potential Mutations
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A meta-analysis of the activity, stability, and mutational characteristics of temperature-adapted enzymes
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Hsa-miR-125b Therapeutic Role in Colon Cancer Is Dependent on the Mutation Status of the TP53 Gene
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Mutation-Based Antibiotic Resistance Mechanism in Methicillin-Resistant
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Mutation Signatures and In Silico Docking of Novel SARS-CoV-2 Variants of Concern
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Year: 2021
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Clinical outcomes in COVID-19 patients infected with different SARS-CoV-2 variants in Marseille, France
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SARS-CoV-2
N
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Year: 2021
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Loss of H3K27 trimethylation is frequent in IDH1-R132H but not in non-canonical IDH1/2 mutated and 1p/19q codeleted oligodendroglioma: a Japanese cohort study
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Year: 2021
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Recent advances of automated methods for searching and extracting genomic variant information from biomedical literature
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Implications of the Novel Mutations in the SARS-CoV-2 Genome for Transmission, Disease Severity, and the Vaccine Development
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Contributions of Genetic Evolution to Zika Virus Emergence
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Cytogenetic and mutational analysis and outcome assessment of a cohort of 284 children with de novo acute myeloid leukemia reveal complex karyotype as an adverse risk factor for inferior survival
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Mutation Rates and Selection on Synonymous Mutations in SARS-CoV-2
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Macrofollicular Variant of Follicular Thyroid Carcinoma (MV-FTC) with a Somatic
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Perithyroidal Salivary Gland Acinic Cell Carcinoma: Morphological and Molecular Attributes of a Unique Lesion
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D614G substitution at the hinge region enhances the stability of trimeric SARS-CoV-2 spike protein
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Frequency and Prognosis of Epidermal Growth Factor Receptor Variant III Mutations in Glioblastoma Multiforme among Indian Patients: A Single-Institution Study
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First-Generation EGFR-TKI Plus Chemotherapy Versus EGFR-TKI Alone as First-Line Treatment in Advanced NSCLC With EGFR Activating Mutation: A Systematic Review and Meta-Analysis of Randomized Controlled Trials
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SARS-CoV-2 Variant of Concern 202012/01 Has about Twofold Replicative Advantage and Acquires Concerning Mutations
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Molecular Analysis of SARS-CoV-2 Genetic Lineages in Jordan: Tracking the Introduction and Spread of COVID-19 UK Variant of Concern at a Country Level
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SARS-CoV-2 Entry Related Viral and Host Genetic Variations: Implications on COVID-19 Severity, Immune Escape, and Infectivity
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PAX6
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