Exons Concept

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• 2 DIFFERENT MISSENSE MUTATIONS AT ARG 178 OF THE PROTEIN-C (PROC) GENE CAUSING RECURRENT VENOUS THROMBOSIS  Journal Articles
• A 23bp Insertion in the Endothelial Protein C Receptor (EPCR) Gene Impairs EPCR Function  Journal Articles
• A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems  Journal Articles
• A Population-Based Study of Dystrophin Mutations in Canada  Journal Articles
• A Variable-Number-of-Tandem-Repeats Polymorphism in the Dopamine D4 Receptor Gene Affects Social Adaptation of Alcohol Use  Journal Articles
• A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism  Journal Articles
• A molecular genetic study of factor XI deficiency  Journal Articles
• A new brain‐derived neurotrophic factor transcript and decrease inbrain‐derived neurotrophic factor transcripts 1, 2 and 3 in Alzheimer's disease parietal cortex  Journal Articles
• Absence of Stabilizing Mutations of β-Catenin Encoded by CTNNB1 Exon 3 in a Large Series of Sporadic Parathyroid Adenomas  Journal Articles
• Allelic Expression Imbalance ofTP53Mutated and Polymorphic Alleles in Head and Neck Tumors  Journal Articles
• Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle.  Journal Articles
• Antisense phosphorothioate oligonucleotides: selective killing of the intracellular parasite Leishmania amazonensis.  Journal Articles
• Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity  Journal Articles
• Association of DRD4 with attention problems in normal childhood development  Journal Articles
• Association of common variants in the human eyes shut ortholog (EYS) with statin‐induced myopathy: Evidence for additional functions of EYS  Journal Articles
• Bovine CLEC7A genetic variants and their association with seropositivity in Johne's disease ELISA  Journal Articles
• Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study  Journal Articles
• Cholesteryl Ester Transfer Protein Mutations, Protein Activity and HDL-Cholesterol Concentration  Journal Articles
• Chronic hypoxia upregulates adenosine 2a receptor expression in chromaffin cells via hypoxia inducible factor-2α: Role in modulating secretion  Journal Articles
• Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency  Journal Articles
• Cloning and 5′ End Nucleotide Sequences of Two Juvenile Hormone-Inducible Vitellogenin Genes of the African Migratory Locust  Journal Articles
• Cloning, genomic organization and expression pattern of a novel Drosophila gene, the disco-interacting protein 2 ( dip2 ), and its murine homolog  Journal Articles
• Cloning, physical mapping and structural characterization of the human α A -adaptin gene  Journal Articles
• Cloning, sequencing and characterization of the tilapia insulin gene  Journal Articles
• Comparison of mitochondrial genomes provides insights into intron dynamics and evolution in the caterpillar fungus Cordyceps militaris  Journal Articles
• Complex Exon-Intron Marking by Histone Modifications Is Not Determined Solely by Nucleosome Distribution  Journal Articles
• Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder  Journal Articles
• DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG)  Journal Articles
• DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration  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
• Distinct distribution of specific members of protein 4.1 gene family in the mouse nephron  Journal Articles
• Dopamine D4 receptor variant, D4GLYCINE194, in Africans, but not in Caucasians: No association with Schizophrenia  Journal Articles
• Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human  Journal Articles
• Effects of Nicotine Deprivation and Replacement on BOLD-fMRI Response to Smoking Cues as a Function of DRD4 VNTR Genotype  Journal Articles
• Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS  Journal Articles
• Evidence of a Founder Effect for the Protein C Gene 3363 Inserted C Mutation in Thrombophilic Pedigrees of French Origin  Journal Articles
• Exome sequencing of Saudi Arabian patients with ADPKD  Journal Articles
• Exon 5 of the p53 gene is a target for deletions in ovarian cancer  Journal Articles
• Exon 8 KIT mutation and pulmonary eosinophilia  Journal Articles
• Exon-skipping in BCR/ABL is induced by ABL exon 2  Journal Articles
• Expression of cyclic-nucleotide-sensitive and -insensitive isoforms of the plasma membrane Ca2+ pump in smooth muscle and other tissues  Journal Articles
• FGF-Regulated Etv Genes Are Essential for Repressing Shh Expression in Mouse Limb Buds  Journal Articles
• Frameshift Mutation in the α2-Globin Gene Causing α⁺-Thalassemia: Codon 49 (−GC)  Journal Articles
• GENETIC STUDY: The dopamine D₄ Receptor (DRD4) gene exon III polymorphism, problematic alcohol use and novelty seeking: direct and mediated genetic effects  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
• Genetic Variants and Susceptibility to Neurological Complications Following West Nile Virus Infection  Journal Articles
• Genetic Variations of TAP1 Gene Exon 3 Affects Gene Expression and Escherichia coli F18 Resistance in Piglets  Journal Articles
• Genome annotation of Caenorhabditis briggsae by TEC-RED identifies new exons, paralogs, and conserved and novel operons  Journal Articles
• Genome-wide CRISPR-Cas9 Interrogation of Splicing Networks Reveals a Mechanism for Recognition of Autism-Misregulated Neuronal Microexons  Journal Articles
• Genome-wide evidence for selection acting on single amino acid repeats  Journal Articles
• Genomic organization and linkage via a bidirectional promoter of the AP-3 (adaptor protein-3) mu3A and AK (adenosine kinase) genes: deletion mutants of AK in Chinese hamster cells extend into the AP-3 mu3A gene  Journal Articles
• Germline mosaicism in Cornelia de Lange syndrome  Journal Articles
• Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations  Journal Articles
• High-throughput sensitive screening of small molecule modulators of microexon alternative splicing using dual Nano and Firefly luciferase reporters  Journal Articles
• Human transcriptome array for high-throughput clinical studies  Journal Articles
• Huntingtin structure is orchestrated by HAP40 and shows a polyglutamine expansion-specific interaction with exon 1  Journal Articles
• IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE  Journal Articles
• IRR: A Novel Member of the Insulin Receptor Family  Conferences
• Identification and functional analyses of sex determination genes in the sexually dimorphic stag beetle Cyclommatus metallifer  Journal Articles
• Immunofluorometric assay of p53 protein versus sequencing of p53 exons 5 to 9 for the detection of p53 abnormalities in ovarian carcinoma.  Journal Articles
• Induction of multiple PCR-SSCPE mobility shifts in exons in cultures of normal human urothelium exposed to low-dose gamma radiation  Journal Articles
• Intestinal epithelial CD23 mediates enhanced antigen transport in allergy: evidence for novel splice forms  Journal Articles
• Intracellular Trafficking of CD23: Differential Regulation in Humans and Mice by Both Extracellular and Intracellular Exons  Journal Articles
• Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation  Journal Articles
• Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation  Journal Articles
• Menin: The Protein Behind the MEN1 Syndrome  Journal Articles
• Metabolic response by FDG-PET to imatinib correlates with exon 11 KIT mutation and predicts outcome in patients with mucosal melanoma  Journal Articles
• Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy  Journal Articles
• Molecular Characterization of Chinese Hamster Cells Mutants Affected in Adenosine Kinase and Showing Novel Genetic and Biochemical Characteristics  Journal Articles
• Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression  Journal Articles
• Molecular phylogenetics unveils the ancient evolutionary origins of the enigmatic fairy armadillos  Journal Articles
• Mutation screening of a neutral amino acid transporter, ASCT1, and its potential role in schizophrenia  Journal Articles
• Naked but Not Hairless: The Pitfalls of Analyses of Molecular Adaptation Based on Few Genome Sequence Comparisons  Journal Articles
• Non-neutral evolution and reciprocal monophyly of two expressed Mhc class II B genes in Leach’s storm-petrel  Journal Articles
• Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot  Journal Articles
• Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure  Journal Articles
• Novel dominant β‐thalassemia: Hb Boston‐Kuwait [Codon 139/140(+T)]  Journal Articles
• Novel seventeen basepair deletion in exon 3 of the β-globin gene  Journal Articles
• NovelLPLmutations associated with lipoprotein lipase deficiency: two case reports and a literature review  Journal Articles
• OrthoMaM v8: A Database of Orthologous Exons and Coding Sequences for Comparative Genomics in Mammals  Journal Articles
• Overexpression of miniexon gene decreases virulence of Leishmania major in BALB/c mice in vivo  Journal Articles
• Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization  Journal Articles
• Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)  Journal Articles
• Plasticity of Animal Genome Architecture Unmasked by Rapid Evolution of a Pelagic Tunicate  Journal Articles
• Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin  Journal Articles
• Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia  Journal Articles
• Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene  Journal Articles
• Radiation-induced carcinogenesis:Studies using human epithelial cell lines  Journal Articles
• Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures  Journal Articles
• Resolving the phylogenetic position of Darwin's extinct ground sloth ( Mylodon darwinii ) using mitogenomic and nuclear exon data  Journal Articles
• Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery  Journal Articles
• Similar Selective Factors Affect Both between-Gene and between-Exon Divergence in Drosophila  Journal Articles
• Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22.  Journal Articles
• Systematic exploration of dynamic splicing networks reveals conserved multistage regulators of neurogenesis  Journal Articles
• Targeted copy number variant identification across the neurodegenerative disease spectrum  Journal Articles
• Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution  Journal Articles
• The Cystic Fibrosis Gene: A Molecular Genetic Perspective  Journal Articles
• The Transcriptional Repressor ZEB Regulates p73 Expression at the Crossroad between Proliferation and Differentiation  Journal Articles
• The first exon of Ad12 E1A excluding the transactivation domain mediates differential binding of COUP-TF and NF-kappa B to the MHC class I enhancer in transformed cells.  Journal Articles
• The human telomerase catalytic subunit hTERT: organization of the gene and characterization of the promoter  Journal Articles
• The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP  Journal Articles
• The rat adenine phosphoribosyltransferase sequence shows evolutionary rate variation among exons in rodents  Journal Articles
• Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening  Journal Articles
• Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis  Journal Articles
• Up‐regulation of PK11195 binding in areas of axonal degeneration coincides with early microglial activation in mouse brain  Journal Articles
• p53 mutations and protein expression in primary cultures of normal oral mucosa in smokers and non-smokers  Journal Articles
• α⁺-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup]  Journal Articles
• α⁺-Thalassemia Trait Caused by a Frameshift Mutation in Exon 2 of the α2-Globin Gene [HBA2 c.244delT]  Journal Articles
• α⁺-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG)  Journal Articles