Results 101 to 110 of about 326,147 (312)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

A shared mucosal gut microbiota signature in primary sclerosing cholangitis before and after liver transplantation

open access: yesHepatology, EarlyView., 2022
In this study of the gut mucosal microbiota in primary sclerosing cholangitis (PSC), we found consistent microbiota features associated with PSC and recurrent PSC, PSC with inflammatory bowel disease and a persistent gut dysbiosis after liver transplantation Abstract Background and Aims Several characteristic features of the fecal microbiota have been ...
Mikal Jacob Hole   +12 more
wiley   +1 more source

Prediction of survival and analysis of prognostic factors for patients with AFP negative hepatocellular carcinoma: a population-based study

open access: yesBMC Gastroenterology
Purpose Hepatocellular carcinoma (HCC) has a poor prognosis, and alpha-fetoprotein (AFP) is widely used to evaluate HCC. However, the proportion of AFP-negative individuals cannot be disregarded.
Chengyu Liu   +12 more
doaj   +1 more source

Mechanisms of Alcohol-Induced Endoplasmic Reticulum Stress and Organ Injuries

open access: yesBiochemistry Research International, 2012
Alcohol is readily distributed throughout the body in the blood stream and crosses biological membranes, which affect virtually all biological processes inside the cell.
Cheng Ji
doaj   +1 more source

Refractory pruritus in primary biliary cirrhosis [PDF]

open access: bronze, 2013
Nuno Cercas Pinheiro   +3 more
openalex   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +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

Total discrimination of peritoneal malignant ascites from cirrhosis- and hepatocarcinoma-associated ascites by assays of ascitic cholesterol and lactate dehydrogenase [PDF]

open access: bronze, 1994
Giuseppe Castaldo   +9 more
openalex   +1 more source

Sequential Portal Vein–Hepatic Vein Embolization: Progress Yet Unaccounted Pitfalls

open access: yes
Annals of Gastroenterological Surgery, EarlyView.
Syeda Rabiah Shahid, Ahmad Furqan Anjum
wiley   +1 more source

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