Point Mutation Concept

subject area of

• De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander  Journal Articles
• A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus‐Merzbacher disease  Journal Articles
• A Complex RNA-Cleaving DNAzyme That Can Efficiently Cleave a Pyrimidine–Pyrimidine Junction  Journal Articles
• A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells  Journal Articles
• A Novel Sickle Hemoglobin: Hemoglobin S-South End  Journal Articles
• A Single Point Mutation in ϵ-COP Results in Temperature-sensitive, Lethal Defects in Membrane Transport in a Chinese Hamster Ovary Cell Mutant  Journal Articles
• A case of non‐resolving hemophilia B Leyden in a 42‐year‐old male (F9 promoter + 13 A>G)  Journal Articles
• A mitochondrial disorder with ptosis and exercise intolerance without ophthalmoparesis secondary to m.5865 T > C variant  Journal Articles
• A non-canonical base pair within the human immunodeficiency virus Rev-responsive element is involved in both Rev and small molecule recognition  Journal Articles
• A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia  Journal Articles
• A novel candidate region for ALS on chromosome 14q11.2  Journal Articles
• A point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency  Journal Articles
• Absence of Stabilizing Mutations of β-Catenin Encoded by CTNNB1 Exon 3 in a Large Series of Sporadic Parathyroid Adenomas  Journal Articles
• Access to a Syllabus of Human Hemoglobin Variants (1996) Via the World Wide Web  Journal Articles
• Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2  Journal Articles
• An anti-CRISPR from a virulent streptococcal phage inhibits Streptococcus pyogenes Cas9  Journal Articles
• Association of Venous Thromboembolism With Hormonal Contraception and Thrombophilic Genotypes  Journal Articles
• Ataxin-7 Can Export from the Nucleus via a Conserved Exportin-dependent Signal  Journal Articles
• Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations  Journal Articles
• Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism  Journal Articles
• BldD fromStreptomyces coelicoloris a non-essential global regulator that binds its own promoter as a dimer  Journal Articles
• Breast cancer prognostic significance of a single nucleotide polymorphism in the proximal androgen response element of the prostate specific antigen gene promoter  Journal Articles
• CPEO – Like mitochondrial myopathy associated with m.8340G>A mutation  Journal Articles
• Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans  Journal Articles
• Characterization of a novel SCN5A genetic variant A1294G associated with mixed clinical phenotype  Journal Articles
• Characterization of nickel-induced mutations  Journal Articles
• Characterization of platelet factor 4 amino acids that bind pathogenic antibodies in heparin‐induced thrombocytopenia  Journal Articles
• Cleavage-dependent Ligation by the FLP Recombinase  Journal Articles
• Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation  Journal Articles
• Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation  Journal Articles
• Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis  Journal Articles
• Codon bias and frequency-dependent selection on the hemagglutinin epitopes of influenza A virus  Journal Articles
• Comparison of 1 month with 3 months of anticoagulation for a first episode of venous thromboembolism associated with a transient risk factor  Journal Articles
• Compensatory regulation of HDAC5 in muscle maintains metabolic adaptive responses and metabolism in response to energetic stress  Journal Articles
• Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation  Journal Articles
• Complete genome sequence of a raccoon rabies virus isolate  Journal Articles
• Cooperative and Critical Roles for Both G Domains in the GTPase Activity and Cellular Function of Ribosome-Associated Escherichia coli EngA  Journal Articles
• Cowden Syndrome–Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation  Journal Articles
• De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European  Journal Articles
• Detection of Severe Nondeletionalα-Thalassemia Mutations Using a Single-Tube Multiplex ARMS Assay  Journal Articles
• Diagnostic testing for α‐globin gene disorders in a heterogeneous North American population  Journal Articles
• Discrepancy between antithrombin activity methods revealed in Antithrombin Stockholm: do factor Xa–based methods overestimate antithrombin activity in some patients?  Journal Articles
• Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia  Journal Articles
• Effect of the Factor V Leiden Mutation on the Clinical Expression of Severe Hemophilia A  Journal Articles
• Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice  Journal Articles
• Error thresholds for RNA replication in the presence of both point mutations and premature termination errors  Journal Articles
• Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behçet's disease and deep vein thrombosis  Journal Articles
• Factor VII Deficiency Caused by a Structural Variant N57D of the First Epidermal Growth Factor Domain  Journal Articles
• Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort  Journal Articles
• Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation  Journal Articles
• Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing  Journal Articles
• Hb H hydrops foetalis syndrome: a case report and review of literature  Journal Articles
• Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease  Journal Articles
• High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [β94(FG1)Asp→Asn,GAC→AAC]  Journal Articles
• IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C)  Journal Articles
• Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]  Journal Articles
• Identification of Regions in HIV-1 Nef Required for Efficient Downregulation of Cell Surface CD4  Journal Articles
• Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)]  Journal Articles
• Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A₂-MUMC [δ13(A10)Ala → Asp]  Journal Articles
• Identification of the MMRN1 Binding Region within the C2 Domain of Human Factor V  Journal Articles
• Implications of Antibiotic Resistance in the Management ofHelicobacter pyloriInfection: CanadianHelicobacterStudy Group  Journal Articles
• Increase in Hemoglobin Concentration during Therapy with Hydroxyurea in Cooley's Anemia  Journal Articles
• Investigating the effect of a single glycine to alanine substitution on interactions of antimicrobial peptide latarcin 2a with a lipid membrane  Journal Articles
• JAK2V617F mutation for the early diagnosis of Ph− myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis  Journal Articles
• Key Roles of Phe¹¹¹²and Ser¹¹¹⁵in the Pore-Forming IIIS5-S6 Linker of L-Type Ca²⁺Channel α_1CSubunit (Ca_V1.2) in Binding of Dihydropyridines and Action of Ca²⁺Channel Agonists  Journal Articles
• Lateral Gene Transfer Dynamics in the Ancient Bacterial GenusStreptomyces  Journal Articles
• Location of the multimerin 1 binding site in coagulation factor V: An update  Journal Articles
• MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation  Journal Articles
• Mitochondrial DNA point mutations and a novel deletion induced by direct low-LET radiation and by medium from irradiated cells  Journal Articles
• Molecular biology approaches to biological monitoring of genotoxic substances  Journal Articles
• Multiple Minisequencing Screen for Seven Southeast Asian Nondeletional α-Thalassemia Mutations  Journal Articles
• Myasthenia graves-like symptoms associated with rare mitochondrial mutation (m.5728T>C)  Journal Articles
• Negative regulation of Gli1 and Gli2 activator function by Suppressor of fused through multiple mechanisms  Journal Articles
• Network of hydrogen bonds in Pro-Ala-Pro and Pro-Phe-Pro diamides: A first principles study of Ala→Phe point mutation in proline environment  Journal Articles
• Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of theβ-Globin Gene Promoter (HBB: c.-133G > A)  Journal Articles
• Novel Mutation of the α2-Globin Gene Initiation Codon (Atg→A-G) in a Vietnamese Girl with Hb H Disease  Journal Articles
• Novel Role for PilNO in Type IV Pilus Retraction Revealed by Alignment Subcomplex Mutations  Journal Articles
• Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure  Journal Articles
• Novel β-Thalassemia Mutation In Patients of Jewish Descent: [β30(B12)ARGGLY OR IVS-I (-2) (AG)]  Journal Articles
• Nuclear import of the BTB/POZ transcriptional regulator Kaiso  Journal Articles
• Patients with type 2 diabetes have a high frequency of the C282Y mutation of the hemochromatosis gene.  Journal Articles
• Phosphate Assimilation in Rhizobium ( Sinorhizobium ) meliloti : Identification of a pit -Like Gene  Journal Articles
• Physical Interaction with Yes-associated Protein Enhances p73 Transcriptional Activity  Journal Articles
• Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus  Journal Articles
• Rapid Evolution of cis-Regulatory Sequences via Local Point Mutations  Journal Articles
• Rare Genetic Variants and High-Density Lipoprotein  Journal Articles
• Rare case of optic pathway glioma with extensive intra-ocular involvement in a child with neurofibromatosis type 1  Journal Articles
• Real-Time RT-PCR Allelic Discrimination Assay for Detection of N501Y Mutation in the Spike Protein of SARS-CoV-2 Associated with B.1.1.7 Variant of Concern  Journal Articles
• Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity  Journal Articles
• Relation of Factor V Leiden Genotype to Risk for Acute Deep Venous Thrombosis after Joint Replacement Surgery  Journal Articles
• Renal venous thrombosis in a newborn with prothrombotic risk factors  Journal Articles
• Repopulation of ?0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction  Journal Articles
• SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations  Journal Articles
• Second Report of Hb Toulon [α77(EF6)Pro→His] in a Canadian Family of Italian Descent  Journal Articles
• Severity of β‐thalassemia due to genotypes involving the IVS‐I‐6 (T→C) mutation  Journal Articles
• Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation  Journal Articles
• Site‐directed mutagenesis of the P2 residue of human antithrombin  Journal Articles
• Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G?C genotype  Journal Articles
• SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts  Journal Articles
• Stability and peptide binding specificity of Btk SH2 domain: Molecular basis for X‐linked agammaglobulinemia  Journal Articles
• Stationary phase-induction of G→T mutations in Escherichia coli  Journal Articles
• Structure and Function of the Glycopeptide N-methyltransferase MtfA, a Tool for the Biosynthesis of Modified Glycopeptide Antibiotics  Journal Articles
• THE Hb S/β⁺-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele  Journal Articles
• The bldD Gene of Streptomyces coelicolor A3(2): a Regulatory Gene Involved in Morphogenesis and Antibiotic Production  Journal Articles
• The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease  Journal Articles
• The T-786→C Mutation in Endothelial Nitric Oxide Synthase Is Associated With Hypertension  Journal Articles
• The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy  Journal Articles
• Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening  Journal Articles
• Treatment of Two Infants with Cooley's Anemia with Sodium Phenylbutyrate  Journal Articles
• Tryptophan hydroxylase polymorphisms in suicide victims  Journal Articles
• Using FLIM-FRET to Measure Conformational Changes of Transglutaminase Type 2 in Live Cells  Journal Articles
• α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G>A and G>T)  Journal Articles
• α⁺-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG)  Journal Articles
• β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation  Journal Articles
• β‐thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (‐CTTT) β ⁰ ‐thalassemia mutation  Journal Articles