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36,143 Newest Publications from the industry biotechnology
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Whole-genome sequencing in health care
01-06-2013 | Carla G van El, Martina C Cornel, Pascal Borry, Ros J Hastings, Florence Fellmann, Shirley V Hodgson, Heidi C Howard ..., European Journal of Human Genetics, 2013
Whole-genome sequencing in health care European Journal of Human Genetics 21, 580 (June 2013). doi:10.1038/ejhg.2013.46 Authors: Carla G van El, Martina C Cornel, Pascal Borry, Ros J Hastings, Florence Fellmann, Shirley V Hodgson, Heidi C Howard, Anne Cambon-Thomsen, ...
David Cox, a counsellor of geneticists
01-06-2013 | GertJan B van Ommen, European Journal of Human Genetics, 2013
David Cox, a counsellor of geneticists European Journal of Human Genetics 21, 579 (June 2013). doi:10.1038/ejhg.2013.70 Author: GertJan B van Ommen
A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population
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 ...
The Parkinson disease-related protein DJ-1 counteracts mitochondrial impairment induced by the tumour suppressor protein p53 by enhancing endoplasmic reticulum–mitochondria tethering
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, ...
Dopaminergic expression of the Parkinsonian gene LRRK2-G2019S leads to non-autonomous visual neurodegeneration, accelerated by increased neural demands for energy
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 ...
Functional analysis of sucrase–isomaltase mutations from chronic lymphocytic leukemia patients
01-06-2013 | David Rodríguez; Andrew J. Ramsay; Víctor Quesada; Cecilia Garabaya; Elías Campo; José M. P. Freije; Carlos López-Otín, Human Molecular Genetics, 2013
Next-generation sequencing techniques have emerged as powerful tools for the understanding of cancer genomes. In recent years, whole-exome and whole-genome sequencing strategies have enabled the annotation of a comprehensive mutation landscape of chronic lymphocytic leukemia (CLL), the most ...
Modifying expression of EphA4 and its downstream targets improves functional recovery after stroke
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 ...
Connexin 43 is involved in the generation of human-induced pluripotent stem cells
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) ...
GPAT2, a mitochondrial outer membrane protein, in piRNA biogenesis in germline stem cells [ARTICLES]
01-06-2013 | Yusuke Shiromoto; Satomi Kuramochi-Miyagawa; Akito Daiba; Shinichiro Chuma; Ami Katanaya; Akiko Katsumata; Ken Nishi ..., RNA, 2013
piRNA (PIWI-interacting RNA) is a germ cell–specific small RNA in which biogenesis PIWI (P-element wimpy testis) family proteins play crucial roles. MILI (mouse Piwi-like), one of the three mouse PIWI family members, is indispensable for piRNA production, DNA methylation of retrotransposons ...
Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice
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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