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Full-Text Articles in Life Sciences

Fanconi Anemia Protein Fancd2 Inhibits Trf1 Polyadp-Ribosylation Through Tankyrase1-Dependent Manner, Alex Lyakhovich, Maria Ramirez, Andres Castella, Amanda Simons, Jeffrey Parvin, Jordi Suralles Dec 2012

Fanconi Anemia Protein Fancd2 Inhibits Trf1 Polyadp-Ribosylation Through Tankyrase1-Dependent Manner, Alex Lyakhovich, Maria Ramirez, Andres Castella, Amanda Simons, Jeffrey Parvin, Jordi Suralles

Amanda Simons

Background: Fanconi anemia (FA) is a rare autosomal recessive syndrome characterized by developmental abnormalities, progressive bone marrow failure, and predisposition to cancer. The key FA protein FANCD2 crosstalks with members of DNA damage and repair pathways that also play a role at telomeres. Therefore, we investigated whether FANCD2 has a similar involvement at telomeres. Results: We reveal that FANCD2 may perform a novel function separate to the FANCD2/BRCA pathway. This function includes FANCD2 interaction with one of the telomere components, the PARP family member tankyrase-1. Moreover, FANCD2 inhibits tankyrase-1 activity in vitro. In turn, FANCD2 deficiency increases the polyADPribosylation of …


Is Sudden Infant Death Syndrome Associated With Helicobacter Pylori Infection In Children?, Yoram Elitsur, William Btriest, Zia Sabet, Cheryl Neace, Chuancang Jiang, Eapen Thomas Sep 2012

Is Sudden Infant Death Syndrome Associated With Helicobacter Pylori Infection In Children?, Yoram Elitsur, William Btriest, Zia Sabet, Cheryl Neace, Chuancang Jiang, Eapen Thomas

Yoram Elitsur

Helicobacter pylori infection has recently been implicated in the pathogenesis of sudden infant death syndrome (SIDS). We investigated this association. Twenty-five pairs of gastric and tracheal tissue specimens obtained from autopsies of 25 children with previous diagnoses of SIDS were available for this study. The presence of H. pylori organisms was evaluated by three different methods: histology (hematoxylin-eosin or Giemsa staining), immunohistochemistry, and nested polymerase chain reaction technique. We were unable to confirm the presence of H. pylori organisms by the first two methods. H. pylori DNA was identified by nested polymerase chain reaction in six different tissue specimens (stomach, …


A Polymorphic Dna Marker Linked To Cystic Fibrosis Is Located On Chromosome 7, Robert Knowlton, Odile Cohen-Haguenauer, Nguyen Van Cong, Jean Frézal, Valerie Brown, David Barker, Jeffrey Braman, James Schumm, Lap-Chee Tsui, Manuel Buchwald, Helen Donis-Keller Aug 2012

A Polymorphic Dna Marker Linked To Cystic Fibrosis Is Located On Chromosome 7, Robert Knowlton, Odile Cohen-Haguenauer, Nguyen Van Cong, Jean Frézal, Valerie Brown, David Barker, Jeffrey Braman, James Schumm, Lap-Chee Tsui, Manuel Buchwald, Helen Donis-Keller

Helen Donis-Keller

Although cystic fibrosis (CF) is among the most common inherited diseases in Caucasian populations, the basic biochemical defect is not yet known. CF is inherited as an autosomal recessive trait apparently due to mutations in a single gene, whence the efforts made to identify the genetic locus responsible by linkage studies. Two markers have recently been identified that are genetically linked to CF: one is a genetic variation in serum level of activity of the enzyme paraoxonase, and the other is a restriction fragment length polymorphism (RFLP) identified with a randomly isolated DNA probe. We report here that the genetic …