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 Academic Article
- Molecular characterization of the Pseudomonas aeruginosa serotype O5 (PAO1) B-band lipopolysaccharide gene cluster Academic Article
- A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression Academic Article
- A Global Metabolic Shift Is Linked to Salmonella Multicellular Development Academic Article
- A PPARγ mutant serves as a dominant negative inhibitor of PPAR signaling and is localized in the nucleus Academic Article
- A novel Myb-related protein involved in transcriptional activation of encystation genes in Giardia lamblia Academic Article
- A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria Academic Article
- A p56 Ligand Serves as a Coactivator of an Orphan Nuclear Hormone Receptor Academic Article
- Absence of Stabilizing Mutations of β-Catenin Encoded by CTNNB1 Exon 3 in a Large Series of Sporadic Parathyroid Adenomas Academic Article
- Activation of theWT1tumor suppressor gene promoter by Pea3 Academic Article
- Allelic Expression Imbalance ofTP53Mutated and Polymorphic Alleles in Head and Neck Tumors Academic Article
- Allelic Stability of VNTR Locus 3’αHVR: Linkage Disequilibrium with the Common α-Thalassaemia-1-Deletion of South-East Asia (--SEA/) Academic Article
- An efficient and flexible system for construction of adenovirus vectors with insertions or deletions in early regions 1 and 3. Academic Article
- Autism spectrum disorder in Prader-Willi syndrome: A systematic review Academic Article
- Cell Growth Inhibition upon Deletion of Four Toxin-Antitoxin Loci from the Megaplasmids of Sinorhizobium meliloti Academic Article
- Cells differentiating into neuroectoderm undergo apoptosis in the absence of functional retinoblastoma family proteins. Academic Article
- Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene Academic Article
- Characterization of a catalytically efficient acidic RNA-cleaving deoxyribozyme Academic Article
- Characterization of long RNA-cleaving deoxyribozymes with short catalytic cores: the effect of excess sequence elements on the outcome of in vitro selection Academic Article
- Characterization of the Putative Type III Secretion ATPase CdsN (Cpn0707) of Chlamydophila pneumoniae Academic Article
- Characterization of the spike protein of human coronavirus NL63 in receptor binding and pseudotype virus entry Academic Article
- Common β-lactamases inhibit bacterial biofilm formation Academic Article
- Conditional Deletion of AP-2α and AP-2β in the Developing Murine Retina Leads to Altered Amacrine Cell Mosaics and Disrupted Visual Function Academic Article
- Conserved indels in protein sequences that are characteristic of the phylum Actinobacteria Academic Article
- Contribution of SHANK3 mutations to autism spectrum disorder. Academic Article
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Academic Article
- Correspondence Academic Article
- Coupling the CRISPR/Cas9 System with Lambda Red Recombineering Enables Simplified Chromosomal Gene Replacement in Escherichia coli Academic Article
- Cyclin-dependent Kinase 5 (Cdk5) Activation Domain of Neuronal Cdk5 Activator Academic Article
- DNA sequence of the deletion/insertion in early region 3 of Ad5 dl309 Academic Article
- De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Academic Article
- Deletion mutagenesis of heparin cofactor II: defining the minimum size of a thrombin inhibiting serpin Academic Article
- Deletion ofMAP2K2/MEK2: a novel mechanism for a RASopathy? Academic Article
- Detection of large deletion in human BRCA1 gene in human breast carcinoma MCF-7 cells by using DNA-Silver Nanoclusters Academic Article
- Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions Academic Article
- Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes Academic Article
- Domain−Domain Interactions in the Aminoglycoside Antibiotic Resistance Enzyme AAC(6‘)-APH(2‘ ‘) Academic Article
- Effects of deletions in the carboxy-terminal hydrophobic region of herpes simplex virus glycoprotein gB on intracellular transport and membrane anchoring Academic Article
- Epidermal hyperplasia and expansion of the interfollicular stem cell compartment in mutant mice with a C-terminal truncation of Patched1 Academic Article
- Exercise Intolerance Due to Mutations in the CytochromebGene of Mitochondrial DNA Academic Article
- Exon 5 of the p53 gene is a target for deletions in ovarian cancer Academic Article
- FGF-Regulated Etv Genes Are Essential for Repressing Shh Expression in Mouse Limb Buds Academic Article
- Factors Determining Vesicular Lipid Mixing Induced by Shortened Constructs of Influenza Hemagglutinin Academic Article
- Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin Academic Article
- Filipino ?-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis Academic Article
- Foreign Gene Expression by Human Adenovirus Type 5-Based Vectors Studied Using Firefly Luciferase and Bacterial β-Galactosidase Genes as Reporters Academic Article
- Gene Structure for Adenosine Kinase in Chinese Hamster and Human: High-Frequency Mutants of CHO Cells Involve Deletions of Several Introns and Exons Academic Article
- Gene targeting in mouse embryonic stem cells with an adenoviral vector Academic Article
- Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort Academic Article
- Global effect of RpoS on gene expression in pathogenic Escherichia coli O157:H7 strain EDL933 Academic Article
- Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation Academic Article
- Hb E/Hb LeporeHollandia in a family from Bangladesh Academic Article
- Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the locus control region Academic Article
- High Hb A2β-Thalassemia Due to a 468 bp Deletion in a Patient with Hb S/β-Thalassemia Academic Article
- High rates of lateral gene transfer are not due to false diagnosis of gene absence Academic Article
- Human embryonic zeta-globin gene expression in mouse-human hybrid erythroid cell lines Academic Article
- Huntingtin contains a highly conserved nuclear export signal Academic Article
- IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE Academic Article
- Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome Academic Article
- Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes Academic Article
- Limb defects in homozygous α-thalassemia: Report of three cases Academic Article
- Lipid binding activity of a neuron-specific protein NAP-22 studied in vivo and in vitro Academic Article
- Mitochondrial DNA point mutations and a novel deletion induced by direct low-LET radiation and by medium from irradiated cells Academic Article
- Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype Academic Article
- Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency Academic Article
- Molecular Characterization of a Novel 55.1 kbGγ(Aγδβ)0-thalassemia Deletion in Two Canadian Families Academic Article
- Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients Academic Article
- Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Academic Article
- Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization. Academic Article
- Molecular genetic analysis of severe protein C deficiency. Academic Article
- Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects Academic Article
- Mouse NGF promoter upstream sequences do not affect gene expression in mouse fibroblasts Academic Article
- Multiple Minisequencing Screen for Seven Southeast Asian Nondeletional α-Thalassemia Mutations Academic Article
- Multiple post-translational modifications regulate E-cadherin transport during apoptosis Academic Article
- Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma Academic Article
- MurA (MurZ), the enzyme that catalyzes the first committed step in peptidoglycan biosynthesis, is essential in Escherichia coli Academic Article
- Mutation analysis of theFRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome Academic Article
- NLS-dependent nuclear localization of p120ctnis necessary to relieve Kaiso-mediated transcriptional repression Academic Article
- NMR assignment of the cAMP-binding domain A of the PKA regulatory subunit Academic Article
- New Tools for Investigating the Comparative Biology of Caenorhabditis briggsae and C. elegans Academic Article
- Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot Academic Article
- Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity Academic Article
- 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 Academic Article
- Phosphate Assimilation in Rhizobium ( Sinorhizobium ) meliloti : Identification of a pit -Like Gene Academic Article
- Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders Academic Article
- Polymorphism and selection of rpoS in pathogenic Escherichia coli Academic Article
- Probing the active site of YjeE: a vital Escherichia coli protein of unknown function Academic Article
- Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemia Academic Article
- Quantitative analysis of regions of adenovirus E1A products involved in interactions with cellular proteins Academic Article
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Academic Article
- Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures Academic Article
- 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 Academic Article
- Requirement for a non-specific glycoprotein cytoplasmic domain sequence to drive efficient budding of vesicular stomatitis virus Academic Article
- Requirement of an ETS-binding element for transcription of the human lck type I promoter. Academic Article
- Role of the Hydrophobic Segment of Diacylglycerol Kinase ε Academic Article
- Routine Screening of (--<sup>SEA</sup>) α-Thalassemia Deletion by an Enzyme-Linked Immunosorbent Assay for Embryonic ζ-Globin Chains Academic Article
- SHANK1 Deletions in Males with Autism Spectrum Disorder Academic Article
- Second site mutations specifically suppress the Fix- phenotype of Rhizobium meliloti ndvF mutations on alfalfa: identification of a conditional ndvF-dependent mucoid colony phenotype. Academic Article
- Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients Academic Article
- Skeletal Muscle Aging in F344BN F1-Hybrid Rats: I. Mitochondrial Dysfunction Contributes to the Age-Associated Reduction in VO2max Academic Article
- Structure-Activity Studies on Mammalian Adenosine Kinase Academic Article
- Structure-Function Analyses of Thrombomodulin by Gene-Targeting in Mice: The Cytoplasmic Domain Is Not Required for Normal Fetal Development Academic Article
- Sudanese (δβ)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion Academic Article
- Symbiotic nitrogen fixation by a nifA deletion mutant of Rhizobium meliloti: the role of an unusual ntrC allele Academic Article
- The Auto-Inhibitory Role of the EPAC Hinge Helix as Mapped by NMR Academic Article
- The COOH terminus of aminoglycoside phosphotransferase (3')-IIIa is critical for antibiotic recognition and resistance Academic Article
- 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 Academic Article
- The PEA3 Ets Transcription Factor Comprises Multiple Domains That Regulate Transactivation and DNA Binding Academic Article
- The fate of laterally transferred genes: Life in the fast lane to adaptation or death Academic Article
- 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 Academic Article
- Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening Academic Article
- Treatment of Two Infants with Cooley's Anemia with Sodium Phenylbutyrate Academic Article
- Two New α-Thalassemia Frameshift Mutations Academic Article
- Universal Newborn Screening for Hb H Disease in California Academic Article
- Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder Academic Article
- 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 Academic Article
- α-Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis Academic Article
- α0-Thalassemia Due to a 90.7 kb Deletion (– –NFLD) Academic Article
- δβ-Thalassemia in an African-American: Identification of the deletion endpoints and PCR-Based diagnosis Academic Article