1. Methylation status of the chromosome arm 19q MicroRNA cluster in sporadic and androgenetic-Biparental mosaicism-associated hepatic mesenchymal hamartoma.

    Pediatric and Developmental Pathology 18(3):218 (2015) PMID 25751191

    The C19MC gene on chromosome band 19q13.4 encodes a cluster of 46 microRNAs; those microRNAs are normally only expressed from the paternal allele and in the placenta. Placental expression correlates with selective demethylation of the paternal C19MC promoter, in contrast to methylation of both m...
  2. An infant with a diagnostically challenging hepatic teratoma, hypofibrinogenemia, and adrenal neuroblastoma: case report.

    Pediatric and Developmental Pathology 18(3):251 (2015) PMID 25756389

    Teratomas of the liver are exceedingly rare. Neuroblastoma is the most common, extracranial solid tumor of infancy. We describe the case of a 2-month-old, female infant who presented with an abdominal mass arising in the right lobe of the liver, and a severe coagulopathy, which necessitated cryo...
  3. Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.

    Journal of Pediatric Gastroenterology and Nutri... 59(1):17 (2014) PMID 24614124 PMCID PMC4203304

    Severe congenital hypertriglyceridemia (HTG) is a rare disorder caused by mutations in genes affecting lipoprotein lipase (LPL) activity. Here we report a 5-week-old Hispanic girl with severe HTG (12,031 mg/dL, normal limit 150 mg/dL) who presented with the unusual combination of lower gastroint...
  4. Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.

    Journal of Pediatric Gastroenterology and Nutri... 59(1):17 (2014) PMID 24614124 PMCID PMC4203304

    Severe congenital hypertriglyceridemia (HTG) is a rare disorder caused by mutations in genes affecting lipoprotein lipase (LPL) activity. Here we report a 5-week-old Hispanic girl with severe HTG (12,031 mg/dL, normal limit 150 mg/dL) who presented with the unusual combination of lower gastroint...
  5. Angiosarcoma successfully treated with liver transplantation and sirolimus.

    Pediatric Transplantation 18(4):E114 (2014) PMID 24641525

    Malignant liver tumors represent approximately 1% of malignancies in children. HA is a high-grade tumor of endothelial cells that is even more rare in the pediatric population. HA has a limited response to chemotherapy, radiation and resection with universal tumor recurrence with LT and nearly 1...
  6. Angiosarcoma successfully treated with liver transplantation and sirolimus.

    Pediatric Transplantation 18(4):E114 (2014) PMID 24641525

    Malignant liver tumors represent approximately 1% of malignancies in children. HA is a high-grade tumor of endothelial cells that is even more rare in the pediatric population. HA has a limited response to chemotherapy, radiation and resection with universal tumor recurrence with LT and nearly 1...
  7. Angiosarcoma successfully treated with liver transplantation and sirolimus.

    Pediatric Transplantation 18(4):E114 (2014) PMID 24641525

    Malignant liver tumors represent approximately 1% of malignancies in children. HA is a high-grade tumor of endothelial cells that is even more rare in the pediatric population. HA has a limited response to chemotherapy, radiation and resection with universal tumor recurrence with LT and nearly 1...
  8. Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors.

    Human Gene Therapy 24(8):761 (2013) PMID 23902403 PMCID PMC3746245

    Helper-dependent adenoviral vectors (HDAd) have been shown to mediate a considerably longer duration of transgene expression than first-generation adenoviral vectors. We have previously shown that transgene expression from HDAd-transduced hepatocytes can persist at high levels for up to 2.6 year...
  9. Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors.

    Human Gene Therapy 24(8):761 (2013) PMID 23902403 PMCID PMC3746245

    Helper-dependent adenoviral vectors (HDAd) have been shown to mediate a considerably longer duration of transgene expression than first-generation adenoviral vectors. We have previously shown that transgene expression from HDAd-transduced hepatocytes can persist at high levels for up to 2.6 year...
  10. Farnesoid X receptor inhibits gankyrin in mouse livers and prevents development of liver cancer.

    Hepatology 57(3):1098 (2013) PMID 23172628 PMCID PMC3649861

    One of the early events in the development of liver cancer is a neutralization of tumor suppressor proteins Rb, p53, hepatocyte nuclear factor 4α (HNF4α), and CCAAT/enhancer binding protein (C/EBP) α. The elimination of these proteins is mediated by a small subunit of proteasome, gankyrin, which...
  11. Farnesoid X receptor inhibits gankyrin in mouse livers and prevents development of liver cancer.

    Hepatology 57(3):1098 (2013) PMID 23172628 PMCID PMC3649861

    One of the early events in the development of liver cancer is a neutralization of tumor suppressor proteins Rb, p53, hepatocyte nuclear factor 4α (HNF4α), and CCAAT/enhancer binding protein (C/EBP) α. The elimination of these proteins is mediated by a small subunit of proteasome, gankyrin, which...
  12. Balloon catheter delivery of helper-dependent adenoviral vector results in sustained, therapeutic hFIX expression in rhesus macaques.

    Molecular Therapy 20(10):1863 (2012) PMID 22828499 PMCID PMC3464633

    Hemophilia B is an excellent candidate for gene therapy because low levels of factor IX (FIX) (≥1%) result in clinically significant improvement of the bleeding diathesis. Helper-dependent adenoviral (HDAd) vectors can mediate long-term transgene expression without chronic toxicity. To determine...
  13. Balloon catheter delivery of helper-dependent adenoviral vector results in sustained, therapeutic hFIX expression in rhesus macaques.

    Molecular Therapy 20(10):1863 (2012) PMID 22828499 PMCID PMC3464633

    Hemophilia B is an excellent candidate for gene therapy because low levels of factor IX (FIX) (≥1%) result in clinically significant improvement of the bleeding diathesis. Helper-dependent adenoviral (HDAd) vectors can mediate long-term transgene expression without chronic toxicity. To determine...
  14. Design and validation of the biliary atresia research consortium histologic assessment system for cholestasis in infancy.

    Clinical Gastroenterology and Hepatology 9(4):357 (2011) PMID 21238606 PMCID PMC3400532

    Pathologists participating in the National Institutes of Health-sponsored Biliary Atresia Research Consortium (BARC) developed and then evaluated a standardized system for histologic reporting of liver biopsies from infants with cholestasis. A set of 97 anonymous liver biopsy samples was sent to...
  15. Design and validation of the biliary atresia research consortium histologic assessment system for cholestasis in infancy.

    Clinical Gastroenterology and Hepatology 9(4):357 (2011) PMID 21238606 PMCID PMC3400532

    Pathologists participating in the National Institutes of Health-sponsored Biliary Atresia Research Consortium (BARC) developed and then evaluated a standardized system for histologic reporting of liver biopsies from infants with cholestasis. A set of 97 anonymous liver biopsy samples was sent to...
  16. Design and validation of the biliary atresia research consortium histologic assessment system for cholestasis in infancy.

    Clinical Gastroenterology and Hepatology 9(4):357 (2011) PMID 21238606 PMCID PMC3400532

    Pathologists participating in the National Institutes of Health-sponsored Biliary Atresia Research Consortium (BARC) developed and then evaluated a standardized system for histologic reporting of liver biopsies from infants with cholestasis. A set of 97 anonymous liver biopsy samples was sent to...
  17. Design and validation of the biliary atresia research consortium histologic assessment system for cholestasis in infancy.

    Clinical Gastroenterology and Hepatology 9(4):357 (2011) PMID 21238606 PMCID PMC3400532

    Pathologists participating in the National Institutes of Health-sponsored Biliary Atresia Research Consortium (BARC) developed and then evaluated a standardized system for histologic reporting of liver biopsies from infants with cholestasis. A set of 97 anonymous liver biopsy samples was sent to...
  18. Design and validation of the biliary atresia research consortium histologic assessment system for cholestasis in infancy.

    Clinical Gastroenterology and Hepatology 9(4):357 (2011) PMID 21238606 PMCID PMC3400532

    Pathologists participating in the National Institutes of Health-sponsored Biliary Atresia Research Consortium (BARC) developed and then evaluated a standardized system for histologic reporting of liver biopsies from infants with cholestasis. A set of 97 anonymous liver biopsy samples was sent to...
  19. Cellular Energy Depletion Resets Whole-Body Energy by Promoting Coactivator-Mediated Dietary Fuel Absorption

    Cell Metabolism 13(1):35 (2011)

    All organisms have devised strategies to counteract energy depletion and promote fitness for survival. We show here that cellular energy depletion puts into play a surprising strategy that leads to absorption of exogenous fuel for energy repletion. The energy-depletion-sensing kinase A...
  20. Cellular energy depletion resets whole-body energy by promoting coactivator-mediated dietary fuel absorption.

    Cell Metabolism 13(1):35 (2011) PMID 21195347 PMCID PMC3072049

    All organisms have devised strategies to counteract energy depletion and promote fitness for survival. We show here that cellular energy depletion puts into play a surprising strategy that leads to absorption of exogenous fuel for energy repletion. The energy-depletion-sensing kinase AMPK binds,...