Results 161 to 170 of about 513,001 (346)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

P2‐131: Health evaluation in the response to viral hepatitis in Brazil [PDF]

, 2018

openalex   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Raw data: Sensitiviy and Specificity of Commercially Available Rapid Diagnostic Tests for Viral Hepatitis B and C Screening in Serum Samples

, 2019
Ganbolor Jargalsaikhan, Miriam Eichner, Delgerbat Boldbaatar, Purevjargal Bat-Ulzii, Oyungerel Lkhagva-Ochir, Odgerel Oidovsambuu, Bekhbold Dashtseren, Erdenebayar Namjil, Zulkhuu Genden, Dahgwahdorj Yagaanbuyant, Alimaa Tuya, Naran Gurjav, Altankhuu Mordorj, Andreas Bungert, Naranbaatar Dashdorj, Naranjargal Dashdorj   +15 more
openalex   +1 more source

Persistent risk for new, subsequent new and recurrent hepatocellular carcinoma despite successful anti-hepatitis B virus therapy and tumor ablation: The need for hepatitis B virus cure. [PDF]

, 2019
Hepatitis B virus (HBV) is one of the most significant hepatocarcinogens. The ultimate goal of anti-HBV treatment is to prevent the development of hepatocellular carcinoma (HCC).
Coben, Robert M., Conn, Mitchell I., DiMarino, Anthony J., Hann, Hie-Won, Kroop, Howard, Martin, Aaron, Prieto, Jorge, Shinn, Brianna J.   +7 more
core   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Factors associated with cardiovascular events after simultaneous liver–kidney transplant from the US Multicenter Simultaneous Liver–Kidney Transplant Consortium

Hepatology Communications, EarlyView., 2022
Abstract Cardiovascular disease is a leading complication after both liver and kidney transplantation. Factors associated with and rates of cardiovascular events (CVEs) after simultaneous liver–kidney transplant (SLKT) are unknown. This was a retrospective cohort study of adult SLKT recipients between 2002 and 2017 at six centers in six United Network ...
Jennifer Jo, Gonzalo Crespo, Dyanna Gregory, Jasmine Sinha, Jiaheng Xie, Min Zhang, John Magee, Pranab Barman, Yuval A. Patel, Aaron Schluger, Kara Walters, Scott Biggins, Natalia Filipek, Giuseppe Cullaro, Randi Wong, Jennifer C. Lai, Gabriel J. Perreault, Elizabeth C. Verna, Pratima Sharma, Lisa B. VanWagner   +19 more
wiley   +1 more source

Expression and function of osteopontin variants in HCV-related liver disease and hepatocellular carcinoma. [PDF]

, 2010
Osteopontin (OPN) is a highly secreted multi-functional sialoprotein that is widely expressed in tissues, blood and urine. It is involved in a number of normal physiological functions, but is also significantly elevated in a number of cancers.
Phillips, Renee Jade
core   +1 more source