scholarly journals Genetically blocking HPD via CRISPR/Cas9 protects against lethal liver injury in a pig model of tyrosinemia type I

2021 ◽  
Author(s):  
Peng Gu ◽  
Qin Yang ◽  
Bangzhu Chen ◽  
Ya-nan Bie ◽  
Wen Liu ◽  
...  
Keyword(s):  
Liver Injury ◽  
Pig Model ◽  
Type I ◽  
Tyrosinemia Type I

Chronic-Onset Hereditary Tyrosinemia Type I

2001 ◽  
Vol 20 (3) ◽  
pp. 241-244
Author(s):  
John Pohl ◽  
Catherine Hughes ◽  
Michael Farrell
Keyword(s):  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Extensive changes in liver gene expression induced by Hereditary Tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)

2003 ◽  
Vol 39 (6) ◽  
pp. 901-909 ◽  
Author(s):  
Marjanka C Luijerink ◽  
Saskia M.M Jacobs ◽  
Ellen A.C.M van Beurden ◽  
Leander P Koornneef ◽  
Leo W.J Klomp ◽  
...  
Keyword(s):  
Gene Expression ◽  
Type I ◽  
Tyrosinemia Type I ◽  
Liver Gene ◽  
Hereditary Tyrosinemia

scholarly journals Hepatocellular targeted α-tocopherol based pH sensitive galactosylated lipids: design, synthesis and transfection studies

MedChemComm ◽  
2018 ◽  
Vol 9 (2) ◽  
pp. 264-274 ◽  
Author(s):  
Venkanna Muripiti ◽  
Brijesh Lohchania ◽  
Srujan Kumar Marepally ◽  
Srilakshmi V. Patri
Keyword(s):  
Gene Delivery ◽  
Genetic Disorders ◽  
Ph Sensitive ◽  
Type I ◽  
Design Synthesis ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Receptor mediated gene delivery to the liver offers advantages in treating genetic disorders such as hemophilia and hereditary tyrosinemia type I (HTI).

scholarly journals Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

1993 ◽  
Vol 91 (4) ◽  
pp. 1816-1821 ◽  
Author(s):  
E A Kvittingen ◽  
H Rootwelt ◽  
P Brandtzaeg ◽  
A Bergan ◽  
R Berger
Keyword(s):  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

scholarly journals A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

2016 ◽  
Vol 33 (3) ◽  
pp. 370-372 ◽  
Author(s):  
Habibe Koc Ucar ◽  
Gokhan Tumgor ◽  
Deniz Kor ◽  
Fatih Kardas ◽  
Neslihan Onenli Mungan
Keyword(s):  
Case Report ◽  
Type I ◽  
Rare Association ◽  
Tyrosinemia Type I

scholarly journals Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I

2009 ◽  
Vol 55 (12) ◽  
pp. 2207-2213 ◽  
Author(s):  
Barbara W Adam ◽  
Timothy H Lim ◽  
Elizabeth M Hall ◽  
W Harry Hannon
Keyword(s):  
Newborn Screening ◽  
Proficiency Testing ◽  
False Negative ◽  
Dried Blood Spots ◽  
Screening Tests ◽  
Type I ◽  
Primary Metabolite ◽  
Screening Practices ◽  
Tyrosinemia Type I ◽  
Stable Performance

Abstract Background: Succinylacetone (SUAC) is the primary metabolite accumulated in tyrosinemia type I—an inborn error of metabolism that, if untreated, can cause death from liver failure during the first months of life. Newborn screening laboratories measure SUAC in dried blood spot (DBS) samples to detect asymptomatic tyrosinemia type I. We used panels of SUAC-enriched DBSs to compare and evaluate the performance of these screening tests. Methods: We prepared sets of DBS materials enriched with predetermined SUAC concentrations and distributed samples of these materials, along with a screening practices questionnaire, to laboratories that perform SUAC tests. We compared their reported SUAC concentrations and questionnaire responses to identify screening practices that affect SUAC test outcomes. Results: Data from 2 pilot surveys showed large differences among laboratories in SUAC recoveries, reproducible within-laboratory recoveries, and stable performance of the DBS materials. Results from 257 proficiency test analyses contained a total of 6 false-negative misclassifications. Reported recoveries of added SUAC ranged from 0 to >200%. Low-biased SUAC recoveries were associated with 1 method used by 5 laboratories. All laboratories that reported SUAC recoveries ≥100% used DBS matrix calibrators. Conclusions: The wide ranges of SUAC concentrations reported for pilot and proficiency testing specimens demonstrate a need to harmonize quantitative results among laboratories. Although DBS matrix calibrators are important for optimizing SUAC recoveries, the preparation of these calibrators is not standardized among laboratories. Certified DBS-based SUAC calibrators are needed for accuracy and harmonization.

scholarly journals Recombinant Factor VIIa Reduces Bleeding after Blunt Liver Injury in a Pig Model of Dilutional Coagulopathy under Severe Hypothermia

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0113979 ◽  
Author(s):  
Henri M. H. Spronk ◽  
Till Braunschweig ◽  
Rolf Rossaint ◽  
Dirk C. Wüst ◽  
Rene van Oerle ◽  
...  
Keyword(s):  
Liver Injury ◽  
Recombinant Factor Viia ◽  
Factor Viia ◽  
Pig Model ◽  
Blunt Liver Injury ◽  
Severe Hypothermia ◽  
Dilutional Coagulopathy

scholarly journals Fibroblast-specific protein 1 identifies an inflammatory subpopulation of macrophages in the liver

2010 ◽  
Vol 108 (1) ◽  
pp. 308-313 ◽  
Author(s):  
Christoph H. Österreicher ◽  
Melitta Penz-Österreicher ◽  
Sergei I. Grivennikov ◽  
Monica Guma ◽  
Ekaterina K. Koltsova ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Liver Disease ◽  
Liver Injury ◽  
Specific Protein ◽  
Lineage Tracing ◽  
Genetic Lineage ◽  
Type I ◽  
Mesenchymal Transition ◽  
Specific Subset ◽  
Experimental Liver

Cirrhosis is the end result of chronic liver disease. Hepatic stellate cells (HSC) are believed to be the major source of collagen-producing myofibroblasts in cirrhotic livers. Portal fibroblasts, bone marrow-derived cells, and epithelial to mesenchymal transition (EMT) might also contribute to the myofibroblast population in damaged livers. Fibroblast-specific protein 1 (FSP1, also called S100A4) is considered a marker of fibroblasts in different organs undergoing tissue remodeling and is used to identify fibroblasts derived from EMT in several organs including the liver. The aim of this study was to characterize FSP1-positive cells in human and experimental liver disease. FSP1-positive cells were increased in human and mouse experimental liver injury including liver cancer. However, FSP1 was not expressed by HSC or type I collagen-producing fibroblasts. Likewise, FSP1-positive cells did not express classical myofibroblast markers, including αSMA and desmin, and were not myofibroblast precursors in injured livers as evaluated by genetic lineage tracing experiments. Surprisingly, FSP1-positive cells expressed F4/80 and other markers of the myeloid-monocytic lineage as evaluated by double immunofluorescence staining, cell fate tracking, flow cytometry, and transcriptional profiling. Similar results were obtained for bone marrow-derived and peritoneal macrophages. FSP1-positive cells were characterized by increased expression of COX2, osteopontin, inflammatory cytokines, and chemokines but reduced expression of MMP3 and TIMP3 compared with Kupffer cells/macrophages. These findings suggest that FSP1 is a marker of a specific subset of inflammatory macrophages in liver injury, fibrosis, and cancer.

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