01.06.2013 | Yi Shi; Bo Gong; Lijia Chen; Xianbo Zuo; Xiaoqi Liu; Pancy O.S. Tam; Xiangtian Zhou; Peiquan Zhao; Fang Lu; Jia Qu; ..., Human Molecular Genetics, 2013

High myopia, highly prevalent in the Chinese population, is a leading cause of visual impairment worldwide. Genetic factors play a critical role in the development of this visual disorder. Genome-wide association studies in recent years have revealed several chromosomal regions that ...

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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 | 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 | Roser Ufartes; Tomasz Schneider; Lena Sünke Mortensen; Camino de Juan Romero; Klaus Hentrich; Hendrik Knoetgen; Vadi ..., Human Molecular Genetics, 2013

Kv10.1 (Eag1), member of the Kv10 family of voltage-gated potassium channels, is preferentially expressed in adult brain. The aim of the present study was to unravel the functional role of Kv10.1 in the brain by generating knockout mice, where the voltage sensor and pore region of Kv10.1 ...

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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 | Iñaki Comino-Méndez; Aguirre A. de Cubas; Carmen Bernal; Cristina Álvarez-Escolá; Carolina Sánchez-Malo; César L. Ra ..., Human Molecular Genetics, 2013

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively. The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate ...

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01.06.2013 | Anna Ghelli; Concetta V. Tropeano; Maria Antonietta Calvaruso; Alessandra Marchesini; Luisa Iommarini; Anna Maria Po ..., Human Molecular Genetics, 2013

Cytochrome b is the only mtDNA-encoded subunit of the mitochondrial complex III (CIII), the functional bottleneck of the respiratory chain. Previously, the human cytochrome b missense mutation m.15579A>G, which substitutes the Tyr 278 with Cys (p.278Y>C), was identified in a patient with ...

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01.06.2013 | Xu Wang; Hui-Xiang Chua; Peng Chen; Rick Twee-Hee Ong; Xueling Sim; Weihua Zhang; Fumihiko Takeuchi; Xuanyao Liu; Ch ..., Human Molecular Genetics, 2013

Genome-wide association studies (GWASs) have discovered thousands of variants that are associated with human health and disease. Whilst early GWASs have primarily focused on genetically homogeneous populations of European, East Asian and South Asian ancestries, the next-generation ...

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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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