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  1. No Access

    Protocol

    Allelic Imbalance Assays to Quantify Allele-Specific Gene Expression and Transcription Factor Binding

    A growing number of noncoding variants are found to influence the susceptibility to common diseases and interindividual variation in drug response. However, the mechanisms by which noncoding variation affects ...

    Francesca Luca, Anna Di Rienzo in Pharmacogenomics (2013)

  2. No Access

    Article

    A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk

    UDP-glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4) is an important metabolizing enzyme involved in the clearance of many xenobiotics and endogenous substrates, especially steroid hormones and bile a...

    Chang Sun, Dezheng Huo, Catherine Southard, Barbara Nemesure… in Human Genetics (2011)

  3. No Access

    Article

    Adaptation – not by sweeps alone

    There has been recent progress in identifying selective sweeps underlying a range of adaptations. Jonathan Pritchard and Anna Di Rienzo argue that many adaptive events in natural populations may occur by polyg...

    Jonathan K. Pritchard, Anna Di Rienzo in Nature Reviews Genetics (2010)

  4. No Access

    Article

    Spatial patterns of variation due to natural selection in humans

  5. Marked geographic patterns for the distribution of some heritable traits are observed in humans, including traits related to disease risk, pathogen resistance ...

    6. John Novembre, Anna Di Rienzo in Nature Reviews Genetics (2009)

  6. Article

    Functional constraints on the constitutive androstane receptor inferred from human sequence variation and cross-species comparisons

    Members of the NR1I subfamily of nuclear receptors play a role in the transcriptional activation of genes involved in drug metabolism and transport. NR1I3, the constitutive androstane receptor (CAR), mediates ...

    Emma E Thompson, Hala Kuttab-Boulos, Matthew D Krasowski, Anna Di Rienzo in Human Genomics (2005)

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    Article

    Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene

    It has been proposed that variation in calpain 10 (CAPN10) contributes to the risk of type 2 diabetes (T2D). A previous survey of CAPN10 in ethnically diverse populations revealed an intronic region with a signif...

    Vanessa J. Clark, Nancy J. Cox, Molly Hammond, Craig L. Hanis… in Human Genetics (2005)

  8. No Access

    Protocol

    Amplification with Arbitrary Primers

    Several methods have been published that rely on the use of short oligonucleotide primers with arbitrary sequences to amplify discrete DNA fragments by the polymerase chain reaction (PCR) (1,2). Typically, a sing...

    Anna Di Rienzo, Amy C. Peterson, Nelson B. Freimer in YAC Protocols (1996)

  9. No Access

    Article

    Molecular characterization of HbH disease in the Cuban population

    Molecular characterization of the α-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with α- and ζ-specific probes. The re...

    Gisela Martinez, R. Ferreira, Ana Hernandez, Anna Di Rienzo, L. Felicetti… in Human Genetics (1986)

  10. No Access

    Article

    Frequency and types of deletional α+ in Northern Sardinia

    We determined by restriction map** the frequency of the −α3.7 determinant in a random sample of 48 adults in Northern Sardinia. We found a frequency of 0.18±0.04 and demonstrated that only type I crossover as d...

    Anna Di Rienzo, Luciano Felicetti, Andrea Novelletto, Gavino Forteleoni… in Human Genetics (1985)