Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of …
…, R Saneto, M Santorsola, C Scharfe… - Molecular genetics and …, 2015 - Elsevier
Success rates for genomic analyses of highly heterogeneous disorders can be greatly
improved if a large cohort of patient data is assembled to enhance collective capabilities for …
improved if a large cohort of patient data is assembled to enhance collective capabilities for …
Evolutionary rate in the protein interaction network
High-throughput screens have begun to reveal the protein interaction network that
underpins most cellular functions in the yeast Saccharomyces cerevisiae. How the …
underpins most cellular functions in the yeast Saccharomyces cerevisiae. How the …
Role of duplicate genes in genetic robustness against null mutations
Deleting a gene in an organism often has little phenotypic effect,,,,, owing to two
mechanisms of compensation,,,,,,. The first is the existence of duplicate genes: that is, the …
mechanisms of compensation,,,,,,. The first is the existence of duplicate genes: that is, the …
Mutation effects predicted from sequence co-variation
Many high-throughput experimental technologies have been developed to assess the
effects of large numbers of mutations (variation) on phenotypes. However, designing …
effects of large numbers of mutations (variation) on phenotypes. However, designing …
Sequence co-evolution gives 3D contacts and structures of protein complexes
Protein–protein interactions are fundamental to many biological processes. Experimental
screens have identified tens of thousands of interactions, and structural biology has …
screens have identified tens of thousands of interactions, and structural biology has …
Systematic screen for human disease genes in yeast
High similarity between yeast and human mitochondria allows functional genomic study of
Saccharomyces cerevisiae to be used to identify human genes involved in disease 1. So far …
Saccharomyces cerevisiae to be used to identify human genes involved in disease 1. So far …
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted …
…, S Hofmann, F Gekeler, C Scharfe… - Human molecular …, 1998 - academic.oup.com
Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes
mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including …
mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including …
The role of selection in the evolution of human mitochondrial genomes
…, K Davis, G Passarino, PA Underhill, C Scharfe… - Genetics, 2006 - academic.oup.com
High mutation rate in mammalian mitochondrial DNA generates a highly divergent pool of
alleles even within species that have dispersed and expanded in size recently. Phylogenetic …
alleles even within species that have dispersed and expanded in size recently. Phylogenetic …
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
…, O Brandau, K Pesch, H Achatz, S Feil, C Scharfe… - Nature …, 2000 - nature.com
X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired
scotopic vision with associated ocular symptoms such as myopia, hyperopia, nystagmus and …
scotopic vision with associated ocular symptoms such as myopia, hyperopia, nystagmus and …
The EVcouplings Python framework for coevolutionary sequence analysis
Coevolutionary sequence analysis has become a commonly used technique for de novo
prediction of the structure and function of proteins, RNA, and protein complexes. We present …
prediction of the structure and function of proteins, RNA, and protein complexes. We present …