Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways

The manuscript by Girotto et al. describes the discovery of new genes and pathways that underlie normal hearing function. The strategy applied combines the power of studying isolated populations with a) a general screening of hearing function, b) high-throughput SNP analysis, c) Genome Wide Association Studies (GWAS), and d) up-to-date in silico pathways construction. Data […]

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Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Developmental delay, learning difficulties, behavioural abnormalities and birth defects are often caused by gains or losses of genetic material.  Array comparative genomic hybridisation (aCGH) is a new technology which is more sensitive than previous technologies, and therefore detects these causative changes and provides a diagnosis in more patients than was previously possible.  However, a(CGH) may […]

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Call for Abstracts/Papers, Fourth Summit on Systems Biology, June 15-17, Richmond, Virginia, USA

Summit on Systems Biology 2011 Molecular Networks and Disease June 15-17, 2011 at the Jefferson Hotel in Richmond, Virginia http://www.vcu.edu/csbc/systemsbiologysummit/ The overarching goal of this summit is to bring together key individuals applying systems approaches to research in molecular medicine and its application to the diagnosis or treatment of disease and to encourage discussion and […]

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. Prominently, the skeleton, nails, teeth, and hair are affected. This can be accompanied by chronic kidney disease, retinal degeneration, and other features. Sensenbrenner syndrome results from dysfunction of the cilium, a protrusion of the cell surface that somewhat resembles an antenna, also regarding its sensory […]

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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

CHARGE syndrome involves multiple congenital anomalies caused by mutations in the CHD7 gene. In our study, we evaluated the clinical characteristics of 280 patients with CHD7 mutations and confirmed that the clinical presentation is highly variable. Even family members, who all had the same mutation, were variably affected. We also report some individuals who have […]

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A 4.6kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family

Brachydactyly is a hereditary disease characterized by malformation of finger(s)/toe(s). A group of German scientists reported that duplication on Chromosome 20 is associated with the condition. We have studied this disorder in a Chinese family. We found that a 4.6kb duplication, smaller than the German group reported, on Chromosome 20, appeared in all the brachydactyly patients, […]

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Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

Individuals with X-linked hypohidrotic ectodermal dysplasia (XLHED) lack a normal sweat response, placing them at life-long risk for severe overheating. This study reports on the use of non-invasive technologies for assessing sweat gland function, and correlated the results with the nature and location of EDA gene defects underlying XLHED. In contrast to previous reports on […]

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