Results 31 to 40 of about 68,138 (263)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease

open access: yesHepatology, EarlyView., 2022
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso   +16 more
wiley   +1 more source

Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2017
Haemoglobinopathies are a frequent cause of anaemia in Northwestern India due to traditional practices of consanguineous marriages. Haemoglobin D-Punjab is one of the most common subvariants (55%) of haemoglobin D, which can be inherited as a homozygous
Kalyan Mansukhbhai Shekhda   +4 more
doaj   +1 more source

Elevated plasma EDA fibronectin in primary myelofibrosis is determined by high allele burden of JAK2V617F mutation and strongly predicts splenomegaly progression

open access: yesFrontiers in Oncology, 2022
In primary myelofibrosis, extra-domain A fibronectin (EDA-FN), the result of alternative splicing of FN gene, sustains megakaryocyte proliferation and confers a pro-inflammatory phenotype to bone marrow cell niches. In this work we assessed the levels of
Alessandro Malara   +6 more
doaj   +1 more source

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

open access: yesHepatology, EarlyView., 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel   +93 more
wiley   +1 more source

Profuse telangiectasias in an immunocompetent patient misleading presentation revealing a hepatosplenic‐Tγδ‐cell lymphoma

open access: yesClinical Case Reports, 2022
Here we present the case of an hepato‐splenic‐Tγδ‐cell lymphoma interestingly occurring in a non‐immunocompromised patient, with profuse telangiectasias giving originally misleading orientation towards the diagnosis of B angiotropic lymphoma.
Ava Diarra   +6 more
doaj   +1 more source

Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis

open access: yesHepatology, EarlyView., 2022
Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis. Abstract Background and Aims Nucleotide‐binding oligomerization domain‐like receptor‐family pyrin domain‐containing 3 (NLRP3) inflammasome activation has been shown to result in liver fibrosis.
Jana Knorr   +19 more
wiley   +1 more source

Isolated hepatic sarcoidosis [PDF]

open access: yesVojnosanitetski Pregled, 2014
Introduction. Sarcoidosis is a multisystem granulomatous disease of unknown etiology. Although hepatic granulomas occur in 50-65% of patients with systemic sarcoidosis, isolated liver sarcoidosis is rare.
Jovičić Ivana   +10 more
doaj   +1 more source

CD11b+CD43hiLy6Clo splenocyte‐derived macrophages exacerbate liver fibrosis via spleen–liver axis

open access: yesHepatology, EarlyView., 2022
A population of splenic monocytes migrate into the liver and shift to macrophages, which account for the exacerbation of liver fibrosis. Abstract Background and Aims Monocyte‐derived macrophages (MoMFs), a dominant population of hepatic macrophages under inflammation, play a crucial role in liver fibrosis progression.
Shaoying Zhang   +18 more
wiley   +1 more source

Serum bile acids as a prognostic biomarker in biliary atresia following Kasai portoenterostomy

open access: yesHepatology, EarlyView., 2022
Serum bile acid levels predict outcomes in patients with biliary atresia who achieve normalized bilirubin levels after Kasai portoenterostomy. Abstract Background and Aims In biliary atresia, serum bilirubin is commonly used to predict outcomes after Kasai portoenterostomy (KP).
Sanjiv Harpavat   +22 more
wiley   +1 more source

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