Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B

Lei Wan, Chang‐Hai Tsai, Chin‐Moo Hsu, Chin‐Chang Huang, Chih‐Chao Yang, Chiu‐Chu Liao, Chin‐Ching Wu, Yu‐An Hsu, Cheng‐Chun Lee, Su‐Ching Liu, Wei‐De Lin, Fuu‐Jen Tsai – 29 October 2010 – Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a copper‐transporting adenosine triphosphatase. A molecular diagnosis was performed on 135 patients with Wilson disease in Taiwan.

Age dependence of oval cell responses and bile duct carcinomas in male fischer 344 rats fed a cyclic choline‐deficient, ethionine‐supplemented diet

Ian Guest, Zoran Ilic, Stewart Sell – 29 October 2010 – The age dependence of the oval cell response and bile duct carcinomas of male F344 rats exposed to a cyclic choline deficiency‐ethionine (CDE) diet (2 weeks on, 1 week off) supports the concept of loss of potential of liver stem cells to form cancers with aging. Livers of rats exposed at 3 weeks of age demonstrated a robust and widespread oval cell proliferation followed by cholangiofibrosis and bile duct metaplasia with extensive mucinous cysts throughout all lobes, and induction of cholangiocarcinomas (CCAs) in seven of eight rats.

Polymerase γ Gene POLG determines the risk of sodium valproate‐induced liver toxicity

Joanna D. Stewart, Rita Horvath, Enrico Baruffini, Iliana Ferrero, Stefanie Bulst, Paul B. Watkins, Robert J. Fontana, Christopher P. Day, Patrick F. Chinnery – 29 October 2010 – Sodium valproate (VPA) is widely used throughout the world to treat epilepsy, migraine, chronic headache, bipolar disorder, and as adjuvant chemotherapy. VPA toxicity is an uncommon but potentially fatal cause of idiosyncratic liver injury. Rare mutations in POLG, which codes for the mitochondrial DNA polymerase γ (polγ), cause Alpers‐Huttenlocher syndrome (AHS).

Influence of ITPA polymorphisms on decreases of hemoglobin during treatment with pegylated interferon, ribavirin, and telaprevir

Fumitaka Suzuki, Yoshiyuki Suzuki, Norio Akuta, Hitomi Sezaki, Miharu Hirakawa, Yusuke Kawamura, Tetsuya Hosaka, Masahiro Kobayashi, Satoshi Saito, Yasuji Arase, Kenji Ikeda, Mariko Kobayashi, Kazuaki Chayama, Naoyuki Kamatani, Yusuke Nakamura, Yuzo Miyakawa, Hiromitsu Kumada – 29 October 2010 – Polymorphisms of the inosine triphosphatase (ITPA) gene influence anemia during pegylated interferon (PEG‐IFN) and ribavirin (RBV) therapy, but their effects during triple therapy with PEG‐IFN, RBV, and telaprevir are not known.

The transcription factors signal transducer and activator of transcription 5A (STAT5A) and STAT5B negatively regulate cell proliferation through the activation of cyclin‐dependent kinase inhibitor 2b (Cdkn2b) and Cdkn1a expression

Ji Hoon Yu, Bing‐Mei Zhu, Mark Wickre, Gregory Riedlinger, Weiping Chen, Atsushi Hosui, Gertraud W. Robinson, Lothar Hennighausen – 29 October 2010 – Although the cytokine‐inducible transcription factor signal transducer and activator of transcription 5 (STAT5) promotes proliferation of a wide range of cell types, there are cell‐specific and context‐specific cases in which loss of STAT5 results in enhanced cell proliferation.

The fractalkine receptor CX3CR1 protects against liver fibrosis by controlling differentiation and survival of infiltrating hepatic monocytes

Karlin Raja Karlmark, Henning W. Zimmermann, Christoph Roderburg, Nikolaus Gassler, Hermann E. Wasmuth, Tom Luedde, Christian Trautwein, Frank Tacke – 29 October 2010 – Chemokines modulate inflammatory responses that are prerequisites for organ fibrosis upon liver injury. Monocyte‐derived hepatic macrophages are critical for the development, maintenance, and resolution of hepatic fibrosis.

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