Results 61 to 70 of about 104,504 (321)

Review article: liver disease in adults with variants in the cholestasis‐related genes ABCB11, ABCB4 and ATP8B1

Alimentary Pharmacology and Therapeutics, 2020
Children with intrahepatic cholestasis and genetic variants which result in the disruption of the formation and maintenance of bile (ABCB11, ABCB4 and ATP8B1) generally have a rapidly progressive clinical course.
J. Nayagam, C. Williamson, D. Joshi, Richard J. Thompson   +3 more
semanticscholar   +1 more source

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome. [PDF]

PLoS ONE, 2016
Cholestasis has been reported during the course of congenital hypothalamic-pituitary deficiency, but crucial information is lacking regarding both its origin and prognosis. We aimed to characterize the course of cholestasis and factors contributing to it
Francois-Xavier Mauvais, Emmanuel Gonzales, Anne Davit-Spraul, Emmanuel Jacquemin, Raja Brauner   +4 more
doaj   +1 more source

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Nature Communications, 2016
Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases.
N. Gomez-Ospina, C. Potter, Rui Xiao, Kandamurugu Manickam, Mi‐Sun Kim, K. Kim, B. Shneider, J. Picarsic, Theodora Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A. Knisely, M. Finegold, D. Muzny, E. Boerwinkle, J. Lupski, S. Plon, R. Gibbs, C. Eng, Yaping Yang, Gabriel Washington, M. Porteus, W. Berquist, N. Kambham, Ravinder J Singh, F. Xia, G. Enns, D. Moore   +28 more
semanticscholar   +1 more source

Clinical profile, short and long‐term outcomes of non‐ischaemic cardiogenic shock: A FRENSHOCK sub‐analysis

ESC Heart Failure, Volume 12, Issue 3, Page 2335-2346, June 2025.
Abstract Aims Although predominant in routine practice, non‐ischaemic cardiogenic shock (NICS) remains underrepresented in past studies, mainly focused on ischaemic cardiogenic shock (CS). This study aims to describe the current NICS picture and define its independent correlates of short‐ and long‐term outcomes.
Miloud Cherbi, François Roubille, Edouard Gerbaud, Eric Bonnefoy, Nicolas Lamblin, Laurent Bonello, Bruno Levy, Pascal Lim, Hamid Merdji, Meyer Elbaz, Hadi Khachab, Jeremy Bourenne, Marie‐France Seronde, Guillaume Schurtz, Brahim Harbaoui, Gerald Vanzetto, Nicolas Combaret, Benoit Lattuca, Guillaume Leurent, Etienne Puymirat, Clément Delmas   +20 more
wiley   +1 more source

Discriminating Different Classes of Toxicants by Transcript Profiling [PDF]

, 2004
Male rats were treated with various model compounds or the appropriate vehicle controls. Most substances were either well-known hepatotoxicants or showed hepatotoxicity during preclinical testing.
Albertini, Silvio, Boess, Franziska, de Vera, Maria Cristina, Gasser, Rodolfo, Ruepp, Stefan, Steiner, Guido, Suter, Laura   +6 more
core   +2 more sources

Cholestasis Due to USP53 Deficiency

Journal of Pediatric Gastroenterology and Nutrition - JPGN, 2020
Objectives: Although a number of genetic forms of cholestasis have been identified, the genetic etiology of disease remains unidentified in a subset of cholestasis patients.
L. Bull, Rebecca Ellmers, P. Foskett, S. Strautnieks, Melissa Sambrotta, P. Czubkowski, I. Jankowska, B. Wagner, M. Deheragoda, Richard J. Thompson   +9 more
semanticscholar   +1 more source

Saikosaponin b1 Attenuates Liver Fibrosis by Blocking STAT3/Gli1 Interaction and Inducing Gli1 Degradation

Exploration, EarlyView.
Saikosaponin b1 attenuates liver fibrosis by competitively disrupting the interaction between signal transducer and activator of transcription 3 (STAT3) and glioma‐associated oncogene‐1 (Gli1) in the activated hepatic stellate cells (HSCs). The blocked interaction of STAT3 and Gli1 promotes the degradation of Gli1, inhibits Gli1 transcriptional ...
Meiyu Shao, Xiaoqing Zhang, Jiamei Sun, Hongyan Dong, Xin Han, Qiao Yang, Roufen Chen, Liteng Shen, Lei Xu, Lu Wang, Bo Zhu, Dongxin Tang, Shuosheng Zhang, Keda Lu, Mengyun Peng, Gang Cao   +15 more
wiley   +1 more source

CAQ Corner: Basic concepts of transplant immunology

, 2022
Liver Transplantation, EarlyView.
Amanda Cheung, Josh Levitsky
wiley   +1 more source

Pathophysiology of sepsis‐induced cholestasis: A review

JGH Open, 2022
Sepsis is a critical condition resulting from the excessive activation of the inflammatory/immune system in response to an infection, with high mortality if treatment is not administered promptly. One of the many possible complications of sepsis is liver
Maria Iuliana Ghenu, Dorin Dragoş, Maria Mirabela Manea, Dorin Ionescu, Lucian Negreanu   +4 more
doaj   +1 more source