Polymorphism, Single-Stranded Conformational
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Subject Areas on Research
- A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
- A new NOS2 promoter polymorphism associated with increased nitric oxide production and protection from severe malaria in Tanzanian and Kenyan children.
- A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
- A novel mutation in the von Hippel-Lindau gene.
- A polymorphism of the human matrix gamma-carboxyglutamic acid protein promoter alters binding of an activating protein-1 complex and is associated with altered transcription and serum levels.
- A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.
- A variant of the DNA repair gene XRCC3 and risk of squamous cell carcinoma of the head and neck: a case-control analysis.
- Alteration of the tumor suppressor gene p53 in a high fraction of hormone refractory prostate cancer.
- An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.
- Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration.
- Apolipoprotein Eɛ2 Is Associated with New Hemorrhage Risk in Brain Arteriovenous Malformations.
- Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder.
- Association of a functional CD19 polymorphism with susceptibility to systemic sclerosis.
- Bcl10 is not a target for frequent mutation in human carcinomas.
- CDKN2 in HPV-positive and HPV-negative cervical-carcinoma cell lines.
- Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET.
- Constitutive hedgehog signaling in chondrosarcoma up-regulates tumor cell proliferation.
- DNMT3b polymorphism and hereditary nonpolyposis colorectal cancer age of onset.
- Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.
- Dideoxy fingerprinting assay for BRCA1 mutation analysis.
- Does phaster mean better?
- Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome.
- Expression of osteocalcin and its transcriptional regulators core-binding factor alpha 1 and MSX2 in osteoid-forming tumours.
- 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.
- Fine localization of the CMT4A locus using a PAC contig and haplotype analysis.
- Fine mapping of the Pc locus of Sorghum bicolor, a gene controlling the reaction to a fungal pathogen and its host-selective toxin.
- Frequency of breast cancer attributable to BRCA1 in a population-based series of American women.
- Generation of melanoma-specific, cytotoxic CD4(+) T helper 2 cells: requirement of both HLA-DR15 and Fas antigens on melanomas for their lysis by Th2 cells.
- Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations.
- Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
- Genetic structure of typical and atypical populations of Candida albicans from Africa.
- Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.
- Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma.
- Identification and functional characterization of JWA polymorphisms and their association with risk of gastric cancer and esophageal squamous cell carcinoma in a Chinese population.
- Increased p53 protein does not correlate to p53 gene mutations in microdissected human testicular germ cell tumors.
- Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.
- Localization of the VHR phosphatase gene and its analysis as a candidate for BRCA1.
- Mechanism of inactivation of CDKN2 and MTS2 in non-small cell lung cancer and association with advanced stage.
- Molecular and immunochemical analyses of RB1 and cyclin D1 in human ductal pancreatic carcinomas and cell lines.
- Molecular genetic and immunohistochemical analysis of the tumor suppressor genes Rb and p53 in palmar and aggressive fibromatosis.
- Molecular genetic aspects of oligodendrogliomas including analysis by comparative genomic hybridization.
- Molecular markers reveal that population structure of the human pathogen Candida albicans exhibits both clonality and recombination.
- Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
- Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.
- Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
- Mutation of bcl-x gene in non-Hodgkin's lymphoma.
- Mutation of p53 gene in hepatocellular carcinoma cell lines with HBX DNA.
- Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
- Mutational analysis of the TrkA gene in prostate cancer.
- 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 of the p16 gene product are rare in prostate cancer.
- Myotilin is mutated in limb girdle muscular dystrophy 1A.
- Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.
- PTEN gene mutations are seen in high-grade but not in low-grade gliomas.
- Patched-one or smoothened gene mutations are infrequent in chondrosarcoma.
- Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.
- Polymorphic hCHK2/hCds1 codon 84 allele and risk of squamous cell carcinoma of the head and neck--a case-control analysis.
- Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.
- Prevalence and spectrum of p53 mutations associated with smoking in breast cancer.
- Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma.
- Somatic mutations in VHL germline deletion kindred correlate with mild phenotype.
- Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
- T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families.
- The estrogen receptor-alpha A908G (K303R) mutation occurs at a low frequency in invasive breast tumors: results from a population-based study.
- The p16 status of tumor cell lines identifies small molecule inhibitors specific for cyclin-dependent kinase 4.
- The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
- Tumor multiplicity, DNA adducts and K-ras mutation pattern of 5-methylchrysene in strain A/J mouse lung.
- Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
- Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
- Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs.
- 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 immunohistochemical and genetic alterations are associated at high incidence with post-irradiated locally persistent prostate carcinoma.
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Keywords of People
- 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
- Moorman, Patricia Gripka, Professor Emeritus in Family Medicine and Community Health, Duke Cancer Institute