Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Laura N. Bull"'
Autor:
Tassos Grammatikopoulos, Nedim Hadzic, Pierre Foskett, Sandra Strautnieks, Marianne Samyn, Roshni Vara, Anil Dhawan, Jozef Hertecant, Fatma Al Jasmi, Obydur Rahman, University of Washington Center for Mendelian Genomics, Maesha Deheragoda, Laura N. Bull, Richard J Thompson
Publikováno v:
Hepatology Communications, Vol 6, Iss 3, Pp 473-479 (2022)
Mutations in the transaldolase 1 (TALDO1) gene have been described in a limited number of cases. Several organs can be affected and clinical manifestations are variable, but often include liver dysfunction and/or hepatosplenomegaly. We report 4 patie
Externí odkaz:
https://doaj.org/article/940c477ffd0640db99f0a2ccb9b4a507
Autor:
Agata Majewska, Jessica A Marathe, Jenny Chambers, Romana Brun-Furrer, Ugo Indraccolo, Yue Cui, Stefan C. Kane, George Attilakos, Maria C. Estiú, L.F. Audris Wong, Andrew Shennan, Rachel M. Tribe, Michael J. Peek, Richard H. Lee, Keren Zloto, Jim G Thornton, Hanns-Ulrich Marschall, Tharni Vasavan, Yoav Yinon, Yannick Bacq, Caroline Ovadia, Berrin Günaydin, Xiaohua Liu, Yayi Hu, Catherine Williamson, Jūratė Kondrackienė, Ayse Gul Kebapcilar, Martijn A. Oudijk, Qianwen Zhang, Kasia Maksym, Victoria Geenes, William M. Hague, Alexander Juusela, Min Ding, Levent Kebapcilar, Valeria Tripodi, Deniz Oztekin, Kajol Patel, Rocio I.R. Macias, Nicholas A. Williamson, Christian Haslinger, Monika Grymowicz, Linoy Batsry, Fergus W. Gardiner, Naciye Turk Ozterlemez, Riza Madazli, Lucy C Chappell, Peter H. Dixon, Paul T. Seed, Anna Locatelli, Kelsey Broom, Maria P.H. Koster, Laura N. Bull, Jenna Sajous, Adam Morton, Francesco Azzaroli, Katherine Kohari
Publikováno v:
lancet. Gastroenterology & hepatology, 6(7), 547-558. Elsevier Limited
The Lancet Gastroenterology and Hepatology, 6(7), 547-558. Elsevier Ltd.
Obstetrical and Gynecological Survey, 76(9), 521-523. Lippincott Williams and Wilkins
Obstetrical and Gynecological Survey, 76(9), 521-523. Lippincott Williams & Wilkins
The Lancet Gastroenterology and Hepatology, 6(7), 547-558. Elsevier Ltd.
Obstetrical and Gynecological Survey, 76(9), 521-523. Lippincott Williams and Wilkins
Obstetrical and Gynecological Survey, 76(9), 521-523. Lippincott Williams & Wilkins
Background: Ursodeoxycholic acid is commonly used to treat intrahepatic cholestasis of pregnancy, yet its largest trial detected minimal benefit for a composite outcome (stillbirth, preterm birth, and neonatal unit admission). We aimed to examine whe
Autor:
Joanna Pawłowska, A S Knisely, Pamela Parsons, Milton J. Finegold, Piotr Czubkowski, Richard J. Thompson, Sandra Strautnieks, Joanna Cielecka-Kuszyk, Irena Jankowska, Laura N. Bull
Publikováno v:
World Journal of Clinical Cases
BACKGROUND Functioning farnesoid X receptor (FXR; encoded by NR1H4) is key to normal bile acid homeostasis. Biallelic mutations in NR1H4 are reported in a few children with intrahepatic cholestasis. We describe a boy with progressive familial intrahe
Autor:
Pierre Foskett, Richard J. Thompson, Laura N. Bull, Melissa Sambrotta, Piotr Czubkowski, Maesha Deheragoda, Irena Jankowska, Rebecca Ellmers, Bart E. Wagner, Sandra Strautnieks
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition
Objectives While a number of genetic forms of cholestasis have been identified, the genetic etiology of disease remains unidentified in a subset of cholestasis patients. Methods Whole exome sequencing (WES) was performed in DNA from patients diagnose
Autor:
Jozef Hertecant, Anil Dhawan, Roshni Vara, Maesha Deheragoda, Pierre Foskett, Tassos Grammatikopoulos, Sandra Strautnieks, Nedim Hadzic, Marianne Samyn, Fatma Al Jasmi, Obydur Rahman, Laura N. Bull, Richard J. Thompson
Publikováno v:
Hepatology communications. 6(3)
Mutations in the transaldolase 1 (TALDO1) gene have been described in a limited number of cases. Several organs can be affected and clinical manifestations are variable, but often include liver dysfunction and/or hepatosplenomegaly. We report 4 patie
Autor:
John C. Magee, Nanda Kerkar, Vicky L. Ng, Benjamin L. Shneider, Kieran Hawthorne, Laura N. Bull, Milton J. Finegold, Ronald J. Sokol, Kathleen M. Loomes, Sarah A. Taylor, Kathleen B. Schwarz, Nitika A. Gupta, Yumirle P. Turmelle, Paula M. Hertel, James E. Squires, Karen F. Murray, Jean P. Molleston, Jorge A. Bezerra, Philip J. Rosenthal, Sehee Kim
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition
Objectives: The aim of the study was to determine the frequency and natural history of infantile idiopathic cholestasis (IC) in a large, prospective, multicenter cohort of infants. Methods: We studied 94 cholestatic infants enrolled up to 6 months of
Autor:
Wen Ye, Molly Bozic, Kathleen M. Loomes, Frederick J. Suchy, Binita M. Kamath, Grace E. Kim, Simon Horslen, Laura N. Bull, Nathan P. Goodrich, John C. Magee, Kasper S. Wang, Heather van Doren, Lee M. Bass, Benjamin L. Shneider, Riccardo A. Superina, Yumirle P. Turmelle, Robert H. Squires, Paula M. Hertel, Richard J. Thompson, Kathleen B. Schwarz, Matthew S. Clifton, Sarangarajan Ranganathan, James E. Heubi, Ronald J. Sokol
Publikováno v:
J Pediatr Gastroenterol Nutr
Journal of pediatric gastroenterology and nutrition, vol 73, iss 2
Journal of pediatric gastroenterology and nutrition, vol 73, iss 2
OBJECTIVES To advance our understanding of monogenic forms of intrahepatic cholestasis. METHODS Analyses included participants with pathogenic biallelic mutations in adenosine triphosphate (ATP)-binding cassette subfamily B member 11 (ABCB11) (bile s
Autor:
Binita M. Kamath, Averell H. Sherker, Saul J. Karpen, Kathleen M. Loomes, David T. Okou, John C. Magee, Pankaj Chopra, Sanjiv Harpavat, Barry Moore, David H. Perlmutter, Donna M. Muzny, Richard A. Gibbs, Anya Mezina, Robert H. Squires, John-Paul Berauer, Stephen L. Guthery, Jean P. Molleston, Jorge A. Bezerra, David J. Cutler, Richard J. Thompson, Milton J. Finegold, Ronald J. Sokol, Nancy B. Spinner, Ramakrishnan Rajagopalan, Mark Yandell, Pierre Russo, Aniko Sabo, Karen F. Murray, Estella M. Alonso, Laura N. Bull, Philip J. Rosenthal, Kasper S. Wang, Madhuri Hegde
Publikováno v:
Hepatology. 70:899-910
Biliary atresia (BA) is the most common cause of end-stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown. Approximately 10% of infants affected by BA exhibit various
Autor:
Immaculeta Osuji, Ammar Husami, Kejian Zhang, Duc-Hung Pham, Liva Pfuhler, Kimberley J. Evason, Nelson Matuschek, Mary P. Mullen, Sami Wali, Laura N. Bull, Ramesh Kudira, Jillian L. Ellis, C. Alexander Valencia, Lingfen Xu, Tiffany Shi, Chunyue Yin, Alexander Miethke, Sujit K. Mohanty
Publikováno v:
Gastroenterology
Background & Aims The etiology of cholestasis remains unknown in many children. We surveyed the genome of children with chronic cholestasis for variants in genes not previously associated with liver disease and validated their biological relevance in
Autor:
Dirk R. de Waart, Ruth Bolier, Suzanne Duijst, Coen C. Paulusma, Laura N. Bull, Johan K. Hiralall, Karina Sayuri Utsunomiya, Kam S. Ho-Mok, Ronald P.J. Oude Elferink, Jyoti Naik, Piter J. Bosma
Publikováno v:
Hepatology (Baltimore, Md.), 64(1), 161-174. John Wiley and Sons Ltd
Hepatology (Baltimore, Md.), vol 64, iss 1
Hepatology (Baltimore, Md.), vol 64, iss 1
UNLABELLED ATP11C is a homolog of ATP8B1, both of which catalyze the transport of phospholipids in biological membranes. Mutations in ATP8B1 cause progressive familial intrahepatic cholestasis type1 in humans, which is characterized by a canalicular