User profiles for "author:C Scharfe"

Curt Scharfe

- Verified email at yale.edu - Cited by 6067

Charlotta Scharfe

- Verified email at roche.com - Cited by 1967

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 …

Evolutionary rate in the protein interaction network

HB Fraser, AE Hirsh, LM Steinmetz, C Scharfe… - Science, 2002 - science.org
High-throughput screens have begun to reveal the protein interaction network that
underpins most cellular functions in the yeast Saccharomyces cerevisiae. How the …

Role of duplicate genes in genetic robustness against null mutations

Z Gu, LM Steinmetz, X Gu, C Scharfe, RW Davis, WH Li - Nature, 2003 - nature.com
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 …

Mutation effects predicted from sequence co-variation

TA Hopf, JB Ingraham, FJ Poelwijk, CPI Schärfe… - Nature …, 2017 - nature.com
Many high-throughput experimental technologies have been developed to assess the
effects of large numbers of mutations (variation) on phenotypes. However, designing …

Sequence co-evolution gives 3D contacts and structures of protein complexes

TA Hopf, CPI Schärfe, JP Rodrigues, AG Green… - elife, 2014 - elifesciences.org
Protein–protein interactions are fundamental to many biological processes. Experimental
screens have identified tens of thousands of interactions, and structural biology has …

Systematic screen for human disease genes in yeast

LM Steinmetz, C Scharfe, AM Deutschbauer… - Nature …, 2002 - nature.com
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 …

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 …

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 …

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 …

The EVcouplings Python framework for coevolutionary sequence analysis

TA Hopf, AG Green, B Schubert, S Mersmann… - …, 2019 - academic.oup.com
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 …