Exons

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  Subject Areas on Research

  • 5' exon replacement and repair by spliceosome-mediated RNA trans-splicing. 
  • A CaMK cascade activates CRE-mediated transcription in neurons of Caenorhabditis elegans. 
  • A calcium-responsive transcription factor, CaRF, that regulates neuronal activity-dependent expression of BDNF. 
  • A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. 
  • A comparison of the genes coding for canonical TRP channels and their M, V and P relatives. 
  • A conserved sorting-associated protein is mutant in chorea-acanthocytosis. 
  • A distal enhancer and an ultraconserved exon are derived from a novel retroposon. 
  • A gene controlling variation in Arabidopsis glucosinolate composition is part of the methionine chain elongation pathway. 
  • A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence 
  • A high-resolution map of human evolutionary constraint using 29 mammals. 
  • A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer. 
  • A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency. 
  • A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. 
  • A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype. 
  • A novel mutation in the von Hippel-Lindau gene. 
  • A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. 
  • A novel splice variant of GLI1 that promotes glioblastoma cell migration and invasion. 
  • A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. 
  • A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. 
  • A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. 
  • A second leaky splice-site mutation in the spastin gene. 
  • A single divergent exon inhibits ankyrin-B association with the plasma membrane. 
  • A single-arm, multicenter, phase II trial of osimertinib in patients with epidermal growth factor receptor exon 18 G719X, exon 20 S768I, or exon 21 L861Q mutations. 
  • A small circular TAR RNA decoy specifically inhibits Tat-activated HIV-1 transcription. 
  • A widespread length-dependent splicing dysregulation in cancer. 
  • ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN Favorable genetic category. 
  • Absence of radiation-induced G1 arrest in two closely related human lymphoblast cell lines that differ in p53 status. 
  • Activated cAMP-response element-binding protein regulates neuronal expression of presenilin-1. 
  • Activating mutation in MET oncogene in familial colorectal cancer. 
  • Activating mutations of Gs protein in monostotic fibrous lesions of bone. 
  • Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. 
  • Adenosine deaminase deficiency in adults. 
  • Adenylyl cyclase-associated protein Aca1 regulates virulence and differentiation of Cryptococcus neoformans via the cyclic AMP-protein kinase A cascade. 
  • Adult-Onset Ligneous Conjunctivitis with Detection of a Novel Plasminogen Gene Mutation and Anti-Plasminogen IgA Antibody: A Clinicopathologic Study and Review of Literature. 
  • Age distribution of latent herpes simplex virus 1 and varicella-zoster virus genome in human nervous tissue. 
  • Allele-specific analysis reveals exon- and cell-type-specific regulatory effects of Alzheimer's disease-associated genetic variants. 
  • Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis. 
  • Allelic diversity in the TGFB1 regulatory region: characterization of novel functional single nucleotide polymorphisms. 
  • Allelic loss at the tuberous sclerosis 2 locus in spontaneous tumors in the Eker rat. 
  • Alternative inclusion of fibroblast growth factor receptor 2 exon IIIc in Dunning prostate tumors reveals unexpected epithelial mesenchymal plasticity. 
  • Alternative splicing in multiple sclerosis and other autoimmune diseases. 
  • Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect. 
  • Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. 
  • Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN-Encoded Titin Truncating Variants. 
  • An analysis of alternatively spliced CD45 mRNA transcripts during T cell maturation in humans. 
  • An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. 
  • An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 
  • An integrated encyclopedia of DNA elements in the human genome. 
  • Analysis of HLA-DM polymorphism in juvenile dermatomyositis (JDM) patients. 
  • Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. 
  • Analysis of transcriptome complexity through RNA sequencing in normal and failing murine hearts. 
  • Aspirin resistance and a single gene. 
  • Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain. 
  • Assignment of the human beta-adducin gene (ADD2) to 2p13-p14 by in situ hybridization. 
  • Association between glutathione S-transferase p1 polymorphisms and lung cancer risk in Caucasians: a case-control study. 
  • Association between two functional polymorphisms of insulin-like growth factor binding protein 3 and colorectal cancer risk in a Chinese population. 
  • Association of a p73 exon 2 G4C14-to-A4T14 polymorphism with risk of squamous cell carcinoma of the head and neck. 
  • Association of genetic variants of O6-methylguanine-DNA methyltransferase with risk of lung cancer in non-Hispanic Whites. 
  • Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population. 
  • Atypical features of familial hemophagocytic lymphohistiocytosis. 
  • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. 
  • BCR first exon sequences specifically activate the BCR/ABL tyrosine kinase oncogene of Philadelphia chromosome-positive human leukemias. 
  • BCR sequences essential for transformation by the BCR-ABL oncogene bind to the ABL SH2 regulatory domain in a non-phosphotyrosine-dependent manner. 
  • BCR-ABL-induced oncogenesis is mediated by direct interaction with the SH2 domain of the GRB-2 adaptor protein. 
  • Biological and biochemical consequences of global deletion of exon 3 from the ER alpha gene. 
  • Broad regulation of gene isoform expression by Wnt signaling in cancer. 
  • CD19 can regulate B lymphocyte signal transduction independent of complement activation. 
  • CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms. 
  • CTLA-4 gene polymorphisms and systemic lupus erythematosus in a population-based study of whites and African-Americans in the southeastern United States. 
  • Calmodulin binds to the N-terminal domain of the cardiac sodium channel Nav1.5. 
  • Catecholamine synthesis is mediated by tyrosinase in the absence of tyrosine hydroxylase. 
  • Characterization of COMMD protein-protein interactions in NF-kappaB signalling. 
  • Characterization of key residues in the subdomain encoded by exons 8 and 9 of human inducible nitric oxide synthase: a critical role for Asp-280 in substrate binding and subunit interactions. 
  • Characterization of the G protein-coupled receptor kinase GRK4. Identification of four splice variants. 
  • Characterization of the human Snrpn minimal promoter and cis elements within it. 
  • Characterization of the mouse FTZ-F1 gene, which encodes a key regulator of steroid hydroxylase gene expression. 
  • Characterization of the mouse SPARC/osteonectin gene. Intron/exon organization and an unusual promoter region. 
  • Characterization of the porcine ATM gene: towards the generation of a novel non-murine animal model for Ataxia-Telangiectasia. 
  • Chicken calmodulin promoter activity in proliferating and differentiated cells. 
  • Chicken perinatal troponin Ts are generated by a combination of novel and phylogenetically conserved alternative splicing pathways. 
  • Chromium (VI) activates ataxia telangiectasia mutated (ATM) protein. Requirement of ATM for both apoptosis and recovery from terminal growth arrest. 
  • Circular RNAs are abundant, conserved, and associated with ALU repeats. 
  • Circular ribozymes generated in Escherichia coli using group I self-splicing permuted intron-exon sequences. 
  • Circularizing ribozymes and decoy-competitors by autocatalytic splicing in vitro and in vivo. 
  • Cis-acting human ApoE tissue expression element is associated with human pattern of intraneuronal ApoE in transgenic mice. 
  • Cleavage and polyadenylation specificity factor 1 (CPSF1) regulates alternative splicing of interleukin 7 receptor (IL7R) exon 6. 
  • Clinical application of whole-genome sequencing in patients with primary immunodeficiency. 
  • Cloning and characterization of a novel endothelial promoter of the human CYP19 (aromatase P450) gene that is up-regulated in breast cancer tissue. 
  • Cloning and characterization of the 5' end (exon 1) of the gene encoding human factor X. 
  • Cloning and structural analysis of the human c-kit gene. 
  • Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr gene. 
  • Combined effects of the p53 and p73 polymorphisms on lung cancer risk. 
  • Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. 
  • Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23. 
  • Complex relationship between Parkin mutations and Parkinson disease. 
  • Complex structure and regulation of the ABP/SHBG gene. 
  • Complexity of CNC transcription factors as revealed by gene targeting of the Nrf3 locus. 
  • Comprehensive analysis of the chromatin landscape in Drosophila melanogaster. 
  • Comprehensive genomic profiling of relapsed and metastatic adenoid cystic carcinomas by next-generation sequencing reveals potential new routes to targeted therapies. 
  • Computational analysis reveals a correlation of exon-skipping events with splicing, transcription and epigenetic factors. 
  • Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. 
  • Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 
  • Control elements within the PWS/AS imprinting box and their function in the imprinting process. 
  • Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. 
  • Correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genomic excision of exon 51 by zinc finger nucleases. 
  • Cytoplasmic and/or nuclear accumulation of the beta-catenin protein is a frequent event in human osteosarcoma. 
  • DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 
  • DNA repair gene XPC genotypes/haplotypes and risk of lung cancer in a Chinese population. 
  • DNA sequence analysis and restriction fragment length polymorphism (RFLP) typing of the HLA-DQw2 alleles associated with dermatitis herpetiformis. 
  • De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. 
  • Derivation of a biologically contained replication system for human immunodeficiency virus type 1. 
  • Developmental expression of the glucose-dependent insulinotropic polypeptide gene in rat intestine. 
  • Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. 
  • Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. 
  • Differing molecular pathology of pancreatic adenocarcinoma in Egyptian and United States patients. 
  • Dilated cardiomyopathy in transgenic mice expressing a mutant A subunit of protein phosphatase 2A. 
  • Disarming the mustard oil bomb. 
  • Disease-associated casein kinase I delta mutation may promote adenomatous polyps formation via a Wnt/beta-catenin independent mechanism. 
  • Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. 
  • Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features. 
  • Distinct functional properties of sodium channel variants are associated with usage of alternative exons in Nilaparvata lugens. 
  • Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. 
  • Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. 
  • Does phaster mean better? 
  • Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. 
  • Drosophila muller f elements maintain a distinct set of genomic properties over 40 million years of evolution. 
  • Drosophila stretchin-MLCK is a novel member of the Titin/Myosin light chain kinase family. 
  • Early specialization of the superfast myosin in extraocular and laryngeal muscles. 
  • Effects of Combined Tristetraprolin/Tumor Necrosis Factor Receptor Deficiency on the Splenic Transcriptome. 
  • Effects of sequence variation on differential allelic transcription factor occupancy and gene expression. 
  • Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders. 
  • Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. 
  • Essential role of PR-domain protein MDS1-EVI1 in MLL-AF9 leukemia. 
  • Essential role of beta-adrenergic receptor kinase 1 in cardiac development and function. 
  • Essential roles of S-nitrosothiols in vascular homeostasis and endotoxic shock. 
  • Evidence for phenotypic plasticity in aggressive triple-negative breast cancer: human biology is recapitulated by a novel model system. 
  • Evidence for positive and negative regulatory elements in the 5'-flanking sequence of the mouse sparc (osteonectin) gene. 
  • Evolution of the 12 kDa FK506-binding protein gene. 
  • Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. 
  • Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma. 
  • Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. 
  • Exon 3 polymorphisms and haplotypes of O6-methylguanine-DNA methyltransferase and risk of bladder cancer in southern China: a case-control analysis. 
  • Exon circularization in mammalian nuclear extracts. 
  • Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency. 
  • Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus. 
  • Expansion of the human mu-opioid receptor gene architecture: novel functional variants. 
  • Exploratory analysis of Fas gene polymorphisms in pediatric osteosarcoma patients. 
  • Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms. 
  • Expression of linear and novel circular forms of an INK4/ARF-associated non-coding RNA correlates with atherosclerosis risk. 
  • FHIT and FRA3B 3p14.2 allele loss are common in lung cancer and preneoplastic bronchial lesions and are associated with cancer-related FHIT cDNA splicing aberrations. 
  • False positives in multiplex PCR-based next-generation sequencing have unique signatures. 
  • Fas single nucleotide polymorphisms and risk of thyroid and salivary gland carcinomas: a case-control analysis. 
  • Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. 
  • Fluorescence in situ hybridization analysis of keratinocyte growth factor gene amplification and dispersion in evolution of great apes and humans. 
  • Fluorescence-based alternative splicing reporters for the study of epithelial plasticity in vivo. 
  • Full-length dystrophin restoration via targeted exon integration by AAV-CRISPR in a humanized mouse model of Duchenne muscular dystrophy. 
  • Full-length nucleotide sequence of ERMAP alleles encoding Scianna (SC) antigens. 
  • Functional repair of a mutant chloride channel using a trans-splicing ribozyme. 
  • GATA2 is associated with familial early-onset coronary artery disease. 
  • Gastrostomy in oropharyngeal cancer patients with ERCC4 (XPF) germline variants. 
  • Gene expression during normal and FSHD myogenesis. 
  • Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy. 
  • Generation of a Magoh conditional allele in mice. 
  • Genetic analysis of the beta-tubulin gene, TUBB, in non-small-cell lung cancer. 
  • Genetic modifiers of the Kv beta2-null phenotype in mice. 
  • Genetic variants in MGMT and risk of lung cancer in Southeastern Chinese: a haplotype-based analysis. 
  • Genetic, epigenetic, and environmental factors controlling oxytocin receptor gene expression. 
  • Genome organization and three kinds of heritable changes: general description and stochastic factors (a review). 
  • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. 
  • Genomic amplification with transcript sequencing. 
  • Genomic organization and cloning of the human homologue of murine Sipa-1. 
  • Genomic organization and polymorphism of human angiotensin II type 2 receptor: no evidence for its gene mutation in two families of human premature ovarian failure syndrome. 
  • Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene. 
  • Genomic structure and chromosomal localization of the novel ETS factor, PE-2 (ERF). 
  • Genomic structure and embryonic expression of estrogen receptor beta a (ERbetaa) in zebrafish (Danio rerio). 
  • Genomic structure of the EPHA1 receptor tyrosine kinase gene. 
  • Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. 
  • Giant ankyrin-G: a critical innovation in vertebrate evolution of fast and integrated neuronal signaling. 
  • Global impact of RNA splicing on transcriptome remodeling in the heart. 
  • Group I intron self-splicing with adenosine: evidence for a single nucleoside-binding site. 
  • Group I permuted intron-exon (PIE) sequences self-splice to produce circular exons. 
  • HNF-3 beta as a regulator of floor plate development. 
  • Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly. 
  • Haplotypes of two variants in p16 (CDKN2/MTS-1/INK4a) exon 3 and risk of squamous cell carcinoma of the head and neck: a case-control study. 
  • Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome. 
  • Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 
  • High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE. 
  • Human Epistatic Interaction Controls IL7R Splicing and Increases Multiple Sclerosis Risk. 
  • Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. 
  • Human factor IXLincoln Park: a molecular characterization. 
  • Human vitamin D receptor mutations: identification of molecular defects in hypocalcemic vitamin D resistant rickets. 
  • Hypoxia in the thymus: role of oxygen tension in thymocyte survival. 
  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. 
  • Identification and characterization of a functional zebrafish smrt corepressor (ncor2). 
  • Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 
  • Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. 
  • Identification of Tat-SF1 cellular targets by exon array analysis reveals dual roles in transcription and splicing. 
  • Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. 
  • Identification of a fetal exon in the human fast troponin T gene. 
  • Identification of a novel gene linked to parkin via a bi-directional promoter. 
  • Identification of a structurally distinct CD101 molecule encoded in the 950-kb Idd10 region of NOD mice. 
  • Identification of cis-acting elements and splicing factors involved in the regulation of BIM Pre-mRNA splicing. 
  • Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization. 
  • Identification of p18 INK4c as a tumor suppressor gene in glioblastoma multiforme. 
  • Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance. 
  • Improved transcript isoform discovery using ORF graphs. 
  • In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy. 
  • Increased mutation and gene conversion within human segmental duplications. 
  • Independent signals control expression of the calcineurin inhibitory proteins MCIP1 and MCIP2 in striated muscles. 
  • Induction of apoptosis in tumor-associated endothelial cells and therapy of orthotopic human pancreatic carcinoma in nude mice. 
  • Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. 
  • Insect sodium channels and insecticide resistance. 
  • Interactions between dystrophin and the sarcolemma membrane. 
  • Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 
  • Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. 
  • Investigation of NRXN1 deletions: clinical and molecular characterization. 
  • Iron is essential for neuron development and memory function in mouse hippocampus. 
  • Isolation and characterization of the gene encoding rat glucose-dependent insulinotropic peptide. 
  • Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. 
  • LAMP2 microdeletions in patients with Danon disease. 
  • Lack of variation in voltage-gated sodium channels of common bottlenose dolphins (Tursiops truncatus) exposed to neurotoxic algal blooms. 
  • Large introns in relation to alternative splicing and gene evolution: a case study of Drosophila bruno-3. 
  • Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis. 
  • Linking a genome-wide association study signal to a LRRK2 coding variant in Parkinson's disease. 
  • Longitudinal RNA-Seq Analysis of the Repeatability of Gene Expression and Splicing in Human Platelets Identifies a Platelet SELP Splice QTL. 
  • Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. 
  • Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. 
  • Mapping of peroxyl radical induced damage on genomic DNA. 
  • Mechanism of inactivation of CDKN2 and MTS2 in non-small cell lung cancer and association with advanced stage. 
  • Mechanism of insulin gene regulation by the pancreatic transcription factor Pdx-1: application of pre-mRNA analysis and chromatin immunoprecipitation to assess formation of functional transcriptional complexes. 
  • Meta-analysis and pooled analysis of GSTM1 and CYP1A1 polymorphisms and oral and pharyngeal cancers: a HuGE-GSEC review. 
  • Mitogen-activated protein kinase phosphatase-1 promotes neovascularization and angiogenic gene expression. 
  • Modification of the effects of estrogen therapy on HDL cholesterol levels by polymorphisms of the HDL-C receptor, SR-BI: the Rancho Bernardo Study. 
  • Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. 
  • Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. 
  • Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. 
  • Molecular characterization and functional expression of the DSC1 channel. 
  • Molecular characterization and localization of the human MAFG gene. 
  • Molecular characterization of TRP1, a gene coding for tryptophan synthetase in the basidiomycete Coprinus cinereus. 
  • Molecular characterization of an arachnid sodium channel gene from the varroa mite (Varroa destructor). 
  • Molecular defects underlying the Kell null phenotype. 
  • Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 
  • Moving Beyond "Isolated" Gene Patents 
  • Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy. 
  • Mutation analysis of 24 known cancer genes in the NCI-60 cell line set. 
  • Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. 
  • Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line. 
  • Mutation analysis of the TSC2 gene in an African-American family. 
  • Mutation and overexpression of the p53 tumor suppressor gene frequently occurs in uterine and ovarian sarcomas. 
  • Mutation location on the RAS oncogene affects pathologic features and survival after resection of colorectal liver metastases. 
  • Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 
  • Mutation of the PTEN tumor suppressor gene is not a feature of ovarian cancers. 
  • Mutational analysis of the estrogen-receptor gene in endometrial carcinoma. 
  • Mutational profile and prognostic significance of TP53 in diffuse large B-cell lymphoma patients treated with R-CHOP: report from an International DLBCL Rituximab-CHOP Consortium Program Study. 
  • Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 
  • Mutations in CIC and FUBP1 contribute to human oligodendroglioma. 
  • Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). 
  • Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. 
  • Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. 
  • Mutations in purine nucleoside phosphorylase deficiency. 
  • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 
  • Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 
  • NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans. 
  • Neuronal cell shape and neurite initiation are regulated by the Ndr kinase SAX-1, a member of the Orb6/COT-1/warts serine/threonine kinase family. 
  • Nonobese diabetic congenic strain analysis of autoimmune diabetes reveals genetic complexity of the Idd18 locus and identifies Vav3 as a candidate gene. 
  • Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. 
  • Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features. 
  • Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy. 
  • Novel exonic mu-opioid receptor gene (OPRM1) polymorphisms not associated with opioid dependence. 
  • Nutritional control of mRNA isoform expression during developmental arrest and recovery in C. elegans. 
  • Oncogenic activation of c-ABL by mutation within its last exon. 
  • Oncogenic transformation by inhibitor-sensitive and -resistant EGFR mutants. 
  • One binding site determines sequence specificity of Tetrahymena pre-rRNA self-splicing, trans-splicing, and RNA enzyme activity. 
  • Organization of ribosomal DNA in the basidiomycete Thanatephorus praticola. 
  • Organization of the MASP2 locus and its expression profile in mouse and rat. 
  • Organization of the human zeta-crystallin/quinone reductase gene (CRYZ). 
  • Origin of fetal troponin T: developmentally regulated splicing of a new exon in the fast troponin T gene. 
  • PLP/DM20 ratio is regulated by hnRNPH and F and a novel G-rich enhancer in oligodendrocytes. 
  • PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer. 
  • PSORS2 is due to mutations in CARD14. 
  • PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients. 
  • Parasite-mediated evolution of the functional part of the MHC in primates. 
  • Parkin-proven disease: common founders but divergent phenotypes. 
  • Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. 
  • Participation of p53 protein in the cellular response to DNA damage. 
  • Pathologic and molecular features correlate with long-term outcome after adjuvant therapy of resected primary GI stromal tumor: the ACOSOG Z9001 trial. 
  • Phenol sulfotransferases: hormonal regulation, polymorphism, and age of onset of breast cancer. 
  • Phylogenetic analyses suggest reverse splicing spread of group I introns in fungal ribosomal DNA. 
  • Phylogeny and evolution of aldehyde dehydrogenase-homologous folate enzymes. 
  • Polymorphisms of vitamin D receptor gene protect against the risk of head and neck cancer. 
  • Potential role of WAF1/Cip1/p21 as a mediator of TGF-beta cytoinhibitory effect. 
  • Poziotinib in Non-Small-Cell Lung Cancer Harboring HER2 Exon 20 Insertion Mutations After Prior Therapies: ZENITH20-2 Trial. 
  • Predicting gene structure changes resulting from genetic variants via exon definition features. 
  • Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. 
  • PrimerZ: streamlined primer design for promoters, exons and human SNPs. 
  • Programmable mutually exclusive alternative splicing for generating RNA and protein diversity. 
  • Progress in therapy for Duchenne muscular dystrophy. 
  • Proximity-dependent and proximity-independent trans-splicing in mammalian cells. 
  • RNA editing generates tissue-specific sodium channels with distinct gating properties. 
  • Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function. 
  • Regulation of Co-transcriptional Pre-mRNA Splicing by m⁶ A through the Low-Complexity Protein hnRNPG. 
  • Regulation of alternative splicing of NMDAR1 in the kindling model. 
  • Regulatory elements governing transcription in specialized myofiber subtypes. 
  • Reinvestigation of the Saccharomyces cerevisiae genome annotation by comparison to the genome of a related fungus: Ashbya gossypii. 
  • Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing. 
  • Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia. 
  • Resolution of the ordinal phylogeny of mosses using targeted exons from organellar and nuclear genomes. 
  • Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation. 
  • Restricted expression of type-II TGF beta receptor in murine embryonic development suggests a central role in tissue modeling and CNS patterning. 
  • Retinoid-related orphan receptor gamma (RORgamma) is essential for lymphoid organogenesis and controls apoptosis during thymopoiesis. 
  • Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. 
  • Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors. 
  • Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial. 
  • Screening the human exome: a comparison of whole genome and whole transcriptome sequencing. 
  • Sequence information for the splicing of human pre-mRNA identified by support vector machine classification. 
  • Sequence of full length cDNA for human S-adenosylhomocysteine hydrolase. 
  • Sequencing and analysis of genomic fragments from the NF1 locus. 
  • Single nucleotide polymorphisms act as modifiers and correlate with the development of medullary and simultaneous medullary/papillary thyroid carcinomas in 2 large, non-related families with the RET V804M proto-oncogene mutation. 
  • Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue. 
  • Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. 
  • Sodium channel density in hypomyelinated brain increased by myelin basic protein gene deletion. 
  • SplicerEX: a tool for the automated detection and classification of mRNA changes from conventional and splice-sensitive microarray expression data. 
  • Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation. 
  • Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene. 
  • Structural organization of the human MS4A gene cluster on Chromosome 11q12. 
  • Structural profiles of TP53 gene mutations predict clinical outcome in diffuse large B-cell lymphoma: an international collaborative study. 
  • Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing. 
  • Structurally divergent human T cell receptor gamma proteins encoded by distinct C gamma genes. 
  • Structure and domain organization of the CD19 antigen of human, mouse, and guinea pig B lymphocytes. Conservation of the extensive cytoplasmic domain. 
  • Structure and regulation of the chicken erythroid delta-aminolevulinate synthase gene. 
  • Structure and sequence of the mouse Bmp6 gene. 
  • Structure of the gene encoding the human B lymphocyte differentiation antigen CD20 (B1). 
  • Structure of the gene encoding the human leukocyte adhesion molecule-1 (TQ1, Leu-8) of lymphocytes and neutrophils. 
  • Structure of the genes encoding the CD19 antigen of human and mouse B lymphocytes. 
  • Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. 
  • Suppression of revertant fibers in mdx mice by expression of a functional dystrophin. 
  • T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. 
  • T-cell receptor α enhancer is inactivated in αβ T lymphocytes. 
  • The EJC component Magoh regulates proliferation and expansion of neural crest-derived melanocytes. 
  • The ErbB2ΔEx16 splice variant is a major oncogenic driver in breast cancer that promotes a pro-metastatic tumor microenvironment. 
  • The GRK4 subfamily of G protein-coupled receptor kinases. Alternative splicing, gene organization, and sequence conservation. 
  • The antisense transcriptomes of human cells. 
  • The aromatase enzyme: from cloning to cancer. 
  • The characterization of twenty sequenced human genomes. 
  • The conserved dinucleotide AG of the 3' splice site may be recognized twice during in vitro splicing of mammalian mRNA precursors. 
  • The effect of SNCA 3' region on the levels of SNCA-112 splicing variant. 
  • The estrogen receptor-alpha A908G (K303R) mutation occurs at a low frequency in invasive breast tumors: results from a population-based study. 
  • The exon A (C77G) mutation is a common cause of abnormal CD45 splicing in humans. 
  • The exon junction complex in neural development and neurodevelopmental disease. 
  • The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. 
  • The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus. 
  • The helix-loop-helix gene E2A is required for B cell formation. 
  • The human gene for the type III isozyme of hexokinase: structure, basal promoter, and evolution. 
  • The inhibitor-1 C terminus facilitates hormonal regulation of cellular protein phosphatase-1: functional implications for inhibitor-1 isoforms. 
  • The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes. 
  • The mammalian HSF4 gene generates both an activator and a repressor of heat shock genes by alternative splicing. 
  • The mouse C-type transient receptor potential 2 (TRPC2) channel: alternative splicing and calmodulin binding to its N terminus. 
  • The mouse Snrpn minimal promoter and its human orthologue: activity and imprinting. 
  • The mouse retinoid-X receptor-gamma gene: genomic organization and evidence for functional isoforms. 
  • The nicotinic acetylcholine receptor gene family of the silkworm, Bombyx mori. 
  • The primary antibody repertoire: the somatic genotype and paratopic phenotype of B-cell populations. 
  • The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 
  • The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma. 
  • The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. 
  • Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. 
  • Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene. 
  • Tissue-specific expression and regulation of the alternatively-spliced forms of lysyl hydroxylase 2 (LH2) in human kidney cells and skin fibroblasts. 
  • Tissue-specific genetic control of splicing: implications for the study of complex traits. 
  • Transcription interruption may be a common mechanism of c-myc regulation during HL-60 differentiation. 
  • Transcription of H-2 and Qa genes in embryonic and adult mice. 
  • Transcriptional regulation of the mouse presenilin-1 gene. 
  • Trinucleotide repeat polymorphisms in the androgen receptor gene and risk of ovarian cancer. 
  • Truncating BRCA1 mutations are uncommon in a cohort of hereditary prostate cancer families with evidence of linkage to 17q markers. 
  • Tumour necrosis factor receptor II polymorphism and juvenile idiopathic arthritis. 
  • Two new polymorphisms but no mutations of the KIT gene in patients with myelodysplasia at positions corresponding to human FMS and murine W locus mutational hot spots. 
  • Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. 
  • Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. 
  • Tyrosine kinase activity and transformation potency of bcr-abl oncogene products. 
  • Upstream stimulatory factors are mediators of Ca2+-responsive transcription in neurons. 
  • Using 5'-PTMs to repair mutant beta-globin transcripts. 
  • Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy. 
  • Vitamin D receptor polymorphisms and prostate cancer. 
  • Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. 
  • Whole-genome analysis informs breast cancer response to aromatase inhibition. 
  • Wild-type Kras expands and exhausts hematopoietic stem cells. 
  • Wilms' tumor suppressor gene expression in rat and human mesothelioma. 
  • [Inflammatory stage of incontinentia pigmenti (Bloch-Sulzberger syndrome)]. 
  • cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene. 
  • p53 Immunostaining guided laser capture microdissection (p53-LCM) defines the presence of p53 gene mutations in focal regions of primary prostate cancer positive for p53 protein. 
  • p53 alterations in all stages of breast cancer. 
• 

  Keywords of People

  • Bennett, Vann, George Barth Geller Distinguished Professor of Molecular Biology, Duke Cancer Institute
  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Erickson, Harold Paul, James B. Duke Distinguished Professor Emeritus, Cell Biology
  • Hartemink, Alexander J., Professor in the Department of Computer Science, Biology
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • Krangel, Michael S., George Barth Geller Distinguished Professor of Immunology, Integrative Immunobiology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Moorman, Patricia Gripka, Professor Emeritus in Family Medicine and Community Health, Duke Cancer Institute
  • Reddy, Timothy E, Associate Professor of Biostatistics & Bioinformatics,, Molecular Genetics and Microbiology
  • Zhong, Xiaoping, Professor of Pediatrics, Integrative Immunobiology