Sequence Deletion Concept

subject area of

• 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis  Journal Articles
• Molecular characterization of the Pseudomonas aeruginosa serotype O5 (PAO1) B‐band lipopolysaccharide gene cluster  Journal Articles
• A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression  Journal Articles
• A Global Metabolic Shift Is Linked to Salmonella Multicellular Development  Journal Articles
• A PPARγ mutant serves as a dominant negative inhibitor of PPAR signaling and is localized in the nucleus  Journal Articles
• A novel Myb‐related protein involved in transcriptional activation of encystation genes in Giardia lamblia  Journal Articles
• A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria  Journal Articles
• A p56 Ligand Serves as a Coactivator of an Orphan Nuclear Hormone Receptor  Journal Articles
• Absence of Stabilizing Mutations of β-Catenin Encoded by CTNNB1 Exon 3 in a Large Series of Sporadic Parathyroid Adenomas  Journal Articles
• Activation of the WT1 tumor suppressor gene promoter by Pea3  Journal Articles
• Allelic Expression Imbalance ofTP53Mutated and Polymorphic Alleles in Head and Neck Tumors  Journal Articles
• Allelic Stability of VNTR Locus 3’αHVR: Linkage Disequilibrium with the Common α-Thalassaemia-1-Deletion of South-East Asia (--SEA/)  Journal Articles
• An efficient and flexible system for construction of adenovirus vectors with insertions or deletions in early regions 1 and 3.  Journal Articles
• Cell Growth Inhibition upon Deletion of Four Toxin-Antitoxin Loci from the Megaplasmids of Sinorhizobium meliloti  Journal Articles
• Cells differentiating into neuroectoderm undergo apoptosis in the absence of functional retinoblastoma family proteins.  Journal Articles
• Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene  Journal Articles
• Characterization of a catalytically efficient acidic RNA-cleaving deoxyribozyme  Journal Articles
• Characterization of long RNA-cleaving deoxyribozymes with short catalytic cores: the effect of excess sequence elements on the outcome of in vitro selection  Journal Articles
• Characterization of the Putative Type III Secretion ATPase CdsN (Cpn0707) ofChlamydophila pneumoniae  Journal Articles
• Common β‐lactamases inhibit bacterial biofilm formation  Journal Articles
• Conditional Deletion of AP-2α and AP-2β in the Developing Murine Retina Leads to Altered Amacrine Cell Mosaics and Disrupted Visual Function  Journal Articles
• Conserved indels in protein sequences that are characteristic of the phylum Actinobacteria  Journal Articles
• Contribution of SHANK3 Mutations to Autism Spectrum Disorder  Journal Articles
• Contribution of SHANK3 mutations to autism spectrum disorder.  Journal Articles
• Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders  Journal Articles
• Correspondence  Journal Articles
• Coupling the CRISPR/Cas9 System with Lambda Red Recombineering Enables Simplified Chromosomal Gene Replacement in Escherichia coli  Journal Articles
• Cyclin-dependent Kinase 5 (Cdk5) Activation Domain of Neuronal Cdk5 Activator  Journal Articles
• DNA sequence of the deletion/insertion in early region 3 of Ad5 dl309  Journal Articles
• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome  Journal Articles
• Deletion mutagenesis of heparin cofactor II: defining the minimum size of a thrombin inhibiting serpin  Journal Articles
• Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?  Journal Articles
• Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions  Journal Articles
• Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes  Journal Articles
• Domain−Domain Interactions in the Aminoglycoside Antibiotic Resistance Enzyme AAC(6‘)-APH(2‘ ‘)  Journal Articles
• Epidermal hyperplasia and expansion of the interfollicular stem cell compartment in mutant mice with a C-terminal truncation of Patched1  Journal Articles
• Exercise Intolerance Due to Mutations in the CytochromebGene of Mitochondrial DNA  Journal Articles
• Exon 5 of the p53 gene is a target for deletions in ovarian cancer  Journal Articles
• FGF-Regulated Etv Genes Are Essential for Repressing Shh Expression in Mouse Limb Buds  Journal Articles
• Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin  Journal Articles
• Filipino ?-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis  Journal Articles
• Foreign Gene Expression by Human Adenovirus Type 5-Based Vectors Studied Using Firefly Luciferase and Bacterial β-Galactosidase Genes as Reporters  Journal Articles
• Gender-Discordant Monochorionic-Diamniotic Twins Both With 45,X/46,X, Idic(Y) Mosaicism and a Novel Deletion Within the TBC1D5 Gene  Journal Articles
• Gene Structure for Adenosine Kinase in Chinese Hamster and Human: High-Frequency Mutants of CHO Cells Involve Deletions of Several Introns and Exons  Journal Articles
• Gene targeting in mouse embryonic stem cells with an adenoviral vector  Journal Articles
• Genetically determined low maternal serum dopamine ?-hydroxylase levels and the etiology of autism spectrum disorders  Journal Articles
• Genomic and epigenetic evidence for oxytocin receptor deficiency in autism  Journal Articles
• Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort  Journal Articles
• Global effect of RpoS on gene expression in pathogenic Escherichia coli O157:H7 strain EDL933  Journal Articles
• Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation  Journal Articles
• Hb E/Hb Lepore_Hollandia in a family from Bangladesh  Journal Articles
• Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the   locus control region  Journal Articles
• High Hb A₂β-Thalassemia Due to a 468 bp Deletion in a Patient with Hb S/β-Thalassemia  Journal Articles
• High rates of lateral gene transfer are not due to false diagnosis of gene absence  Journal Articles
• Human embryonic zeta-globin gene expression in mouse-human hybrid erythroid cell lines  Journal Articles
• Huntingtin contains a highly conserved nuclear export signal  Journal Articles
• IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE  Journal Articles
• Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome  Journal Articles
• Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes  Journal Articles
• Limb defects in homozygous α-thalassemia: Report of three cases  Journal Articles
• Mitochondrial DNA point mutations and a novel deletion induced by direct low-LET radiation and by medium from irradiated cells  Journal Articles
• Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype  Journal Articles
• Molecular Characterization of a Novel 55.1 kb^Gγ(^Aγδβ)⁰-thalassemia Deletion in Two Canadian Families  Journal Articles
• Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients  Journal Articles
• Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression  Journal Articles
• Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.  Journal Articles
• Molecular genetic analysis of severe protein C deficiency.  Journal Articles
• Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects  Journal Articles
• Mouse NGF promoter upstream sequences do not affect gene expression in mouse fibroblasts  Journal Articles
• Multiple Minisequencing Screen for Seven Southeast Asian Nondeletional α-Thalassemia Mutations  Journal Articles
• Multiple post-translational modifications regulate E-cadherin transport during apoptosis  Journal Articles
• Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma  Journal Articles
• MurA (MurZ), the enzyme that catalyzes the first committed step in peptidoglycan biosynthesis, is essential in Escherichia coli  Journal Articles
• Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome  Journal Articles
• Mutation screening of a neutral amino acid transporter, ASCT1, and its potential role in schizophrenia  Journal Articles
• NLS-dependent nuclear localization of p120ctnis necessary to relieve Kaiso-mediated transcriptional repression  Journal Articles
• NMR assignment of the cAMP-binding domain A of the PKA regulatory subunit  Journal Articles
• New Tools for Investigating the Comparative Biology of Caenorhabditis  briggsae and C. elegans  Journal Articles
• Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10  Journal Articles
• Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot  Journal Articles
• Pathology and immunogenicity in the cotton rat (Sigmodon hispidus) model after infection with a bovine adenovirus type 3 recombinant virus expressing the firefly luciferase gene  Journal Articles
• Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders  Journal Articles
• Polymorphism and selection of rpoS in pathogenic Escherichia coli  Journal Articles
• Probing the active site of YjeE: a vital Escherichia coli protein of unknown function  Journal Articles
• Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemia  Journal Articles
• Quantitative analysis of regions of adenovirus E1A products involved in interactions with cellular proteins  Journal Articles
• Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities  Journal Articles
• Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures  Journal Articles
• Replication of Subgenomic Hepatitis C Virus Replicons in Mouse Fibroblasts Is Facilitated by Deletion of Interferon Regulatory Factor 3 and Expression of Liver-Specific MicroRNA 122  Journal Articles
• Role of the Hydrophobic Segment of Diacylglycerol Kinase ε  Journal Articles
• Routine Screening of (--^SEA) α-Thalassemia Deletion by an Enzyme-Linked Immunosorbent Assay for Embryonic ζ-Globin Chains  Journal Articles
• SHANK1 Deletions in Males with Autism Spectrum Disorder  Journal Articles
• Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients  Journal Articles
• Skeletal Muscle Aging in F344BN F1-Hybrid Rats: I. Mitochondrial Dysfunction Contributes to the Age-Associated Reduction in VO2max  Journal Articles
• Structure-Activity Studies on Mammalian Adenosine Kinase  Journal Articles
• Structure-Function Analyses of Thrombomodulin by Gene-Targeting in Mice: The Cytoplasmic Domain Is Not Required for Normal Fetal Development  Journal Articles
• Sudanese (δβ)⁰-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion  Journal Articles
• The Auto-Inhibitory Role of the EPAC Hinge Helix as Mapped by NMR  Journal Articles
• The COOH terminus of aminoglycoside phosphotransferase (3')-IIIa is critical for antibiotic recognition and resistance  Journal Articles
• The Myxoma Virus M-T4 Gene Encodes a Novel RDEL-Containing Protein That Is Retained within the Endoplasmic Reticulum and Is Important for the Productive Infection of Lymphocytes  Journal Articles
• The PEA3 Ets Transcription Factor Comprises Multiple Domains That Regulate Transactivation and DNA Binding  Journal Articles
• The fate of laterally transferred genes: Life in the fast lane to adaptation or death  Journal Articles
• The human SCGB2A2 (Mammaglobin-1) promoter/enhancer in a helper-dependent adenovirus vector directs high levels of transgene expression in mammary carcinoma cells but not in normal nonmammary cells  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
• Two New α-Thalassemia Frameshift Mutations  Journal Articles
• Universal Newborn Screening for Hb H Disease in California  Journal Articles
• Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder  Journal Articles
• Widely Used Herpes Simplex Virus 1 ICP0 Deletion Mutant Strain dl1403 and Its Derivative Viruses Do Not Express Glycoprotein C Due to a Secondary Mutation in the gC Gene  Journal Articles
• α⁰-Thalassemia Due to a 90.7 kb Deletion (– –^NFLD)  Journal Articles
• α‐Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis  Journal Articles
• δβ-Thalassemia in an African-American: Identification of the deletion endpoints and PCR-Based diagnosis  Journal Articles