01.06.2013 | Denis Ottolini; Tito Calì; Alessandro Negro; Marisa Brini, Human Molecular Genetics, 2013

DJ-1 was first identified as an oncogene. More recently, mutations in its gene have been found causative for autosomal recessive familial Parkinson disease. Numerous studies support the DJ-1 role in the protection against oxidative stress and maintenance of mitochondria structure; however, ...

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01.06.2013 | Samantha Hindle; Farinaz Afsari; Meg Stark; C. Adam Middleton; Gareth J.O. Evans; Sean T. Sweeney; Christopher J.H. ..., Human Molecular Genetics, 2013

Parkinson's disease (PD) is associated with loss of dopaminergic signalling, and affects not just movement, but also vision. As both mammalian and fly visual systems contain dopaminergic neurons, we investigated the effect of LRRK2 mutations (the most common cause of inherited PD) on ...

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01.06.2013 | Robin Lemmens; Tom Jaspers; Wim Robberecht; Vincent N. Thijs, Human Molecular Genetics, 2013

Functional recovery after stroke varies greatly between patients, potentially due to differences in gene expression. Several processes like angiogenesis, neurogenesis, axonal reorganization and synaptic plasticity act in concert to restore neurological functions. The ephrin family has known ...

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01.06.2013 | Qiong Ke; Li Li; Bing Cai; Chang Liu; Yan Yang; Yong Gao; Weijun Huang; Xiaofeng Yuan; Tao Wang; Qi Zhang; Andrew L. ..., Human Molecular Genetics, 2013

Although somatic cells can be successfully programmed to create pluripotent stem cells by ectopically expressing defined transcriptional factors, reprogramming efficiency is low and the reprogramming mechanism remains unclear. Previous reports have shown that almost all human connexin (CX) ...

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01.06.2013 | Yu Wang; Xin He; Qi Yu; Charis Eng, Human Molecular Genetics, 2013

Androgen receptor (AR) expression by immunohistochemistry correlates with better prognosis and survival among breast cancer patients. We and others have shown that AR inhibits proliferation and induces apoptosis in breast cancer cells. However, the mechanism of AR's anti-tumor effect in ...

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01.06.2013 | Salma Awad; Mohammed S Al-Dosari; Nadya Al-Yacoub; Dilek Colak; Mustafa A Salih; Fowzan S Alkuraya; Coralie Poizat, Human Molecular Genetics, 2013

Primary microcephaly (PM) is a developmental disorder of early neuroprogenitors that results in reduction of the brain mass, particularly the cortex. To gain fresh insight into the pathogenesis of PM, we describe a consanguineous family with a novel genetic variant responsible for the ...

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01.06.2013 | Hong Loan Nguyen; Xi Yang; Curtis J. Omiecinski, RNA, 2013

Microsomal epoxide hydrolase (mEH, EPHX1) is a critical xenobiotic-metabolizing enzyme, catalyzing both detoxification and bioactivation reactions that direct the disposition of chemical epoxides, including the carcinogenic metabolites of several polycyclic aromatic hydrocarbons. Recently, ...

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01.06.2013 | Valeska Frank; Sandra Habbig; Malte P. Bartram; Tobias Eisenberger; Hermine E. Veenstra-Knol; Christian Decker; Rein ..., Human Molecular Genetics, 2013

Mutations affecting the integrity and function of cilia have been identified in various genes over the last decade accounting for a group of diseases called ciliopathies. Ciliopathies display a broad spectrum of phenotypes ranging from mild manifestations to lethal combinations of multiple ...

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01.06.2013 | Amy Pandya-Jones; Dev M. Bhatt; Chia-Ho Lin; Ann-Jay Tong; Stephen T. Smale; Douglas L. Black, RNA, 2013

The expression of eukaryotic mRNAs is achieved though an intricate series of molecular processes that provide many steps for regulating the production of a final gene product. However, the relationships between individual steps in mRNA biosynthesis and the rates at which they occur are ...

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01.06.2013 | Alexis Bédécarrats; Charles Cornet; John Simmers; Romuald Nargeot, Learning & Memory, 2013

Feeding in Aplysia provides an amenable model system for analyzing the neuronal substrates of motivated behavior and its adaptability by associative reward learning and neuromodulation. Among such learning processes, appetitive operant conditioning that leads to a compulsive-like expression ...

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