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- 1From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedIn the version of this article initially published, several contributing authors were listed collectively under the name The International FOP Research Consortium. In order to facilitate the electronic citation of...
- 2From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedTo the Editor: Vang et al. (1) recently reported that the protein tyrosine phosphatase PTPN22 Trp620 variant is a gain-of-function mutant, resulting in increased PTPN22 phosphatase activity in T cells. This variant...
- 3From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedThe genome-wide distribution of linkage disequilibrium (LD) determines the strategy for selecting markers for association studies, but it varies between populations. We assayed LD in large samples (200 individuals) from...
- 4From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedFor our readers who fancy long-haired breeds, we present the classical mouse mutant angora as our May MoM. The original angora mutation, described in 1963 by Margaret Dickie, arose spontaneously in a litter of BALB/cJ...
- 5From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedThe majority of inherited mitochondrial disorders are due to mutations not in the mitochondrial genome (mtDNA) but rather in the nuclear genes encoding proteins targeted to this organelle. Elucidation of the molecular...
- 6From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedSuzanne Schubbert, Martin Zenker, Sara L Rowe, Silke Boll, Cornelia Klein, Gideon Bollag, Ineke van der Burgt, Luciana Musante, Vera Kalscheuer, Lars-Erik Wehner, Hoa Nguyen, Brian West, Kam Y J Zhang, Erik Sistermans,...
- 7From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedAberrant methylation of a CpG island in cancer is thought to silence a single gene but not its neighbors. A new study in colon cancer shows that transcriptional silencing can also be unexpectedly diffuse, encompassing...
- 8From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedWe report a new mechanism in carcinogenesis involving coordinate long-range epigenetic gene silencing. Epigenetic silencing in cancer has always been envisaged as a local event silencing discrete genes. However, in this...
- 9From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedCorinne Stoetzel, Virginie Laurier, Erica E Davis, Jean Muller, Suzanne Rix, Jose L Badano, Carmen C Leitch, Nabiha Salem, Eliane Chouery, Sandra Corbani, Nadine Jalk, Serge Vicaire, Pierre Sarda, Christian Hamel,...
- 10From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedLife is too short to read bad sequence in good papers, so I propose a solution. It is rare for editors to endorse any product, but we are prepared to make an exception for software that makes the lives of our authors...
- 11From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedMutations in hemojuvelin disrupt its ability to stimulate expression of the iron regulatory peptide hepcidin and result in the severe iron loading disorder juvenile hemochromatosis. A new study shows that hemojuvelin...
- 12From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedIt is all too easy for the public to underestimate how little understanding and control humans have over biology and how limited and contingent our greatest advances in medical science have been. Researchers must...
- 13From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedNew studies indicate that damage to the mitochondrial genome (mtDNA) accumulates with age, specifically in the dopaminergic neurons of the substantia nigra implicated in Parkinson disease. These findings suggest that...
- 14From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedFibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. We mapped FOP to chromosome 2q23-24 by linkage analysis and...
- 15From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedHere we show that in substantia nigra neurons from both aged controls and individuals with Parkinson disease, there is a high level of deleted mitochondrial DNA (mtDNA) (controls, 43.3% [+ or -] 9.3%; individuals with...
- 16From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedMarfan syndrome (MFS) is a disorder of connective tissue caused by mutations in the gene encoding fibrillin-1, a component of the extracellular matrix. It has been shown that fibrillin-1 regulates TGF-[beta] activity...
- 17From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedAlthough quantitative trait locus (QTL) mapping has been successful in describing the genetic architecture of complex traits1-4, the molecular basis of quantitative variation is less well understood, especially in...
- 18From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedThe most recent National Academies Keck Futures Initiative Conference, entitled 'The Genomics Revolution: Implications for Treatment and Control of Infectious Disease', was held at the Arnold and Mabel Beckman Center in...
- 19From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedCornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation. Mutations in the NIPBL gene, a component of the...
- 20From: Nature Genetics. (Vol. 38, Issue 5) Peer-ReviewedIt was a big boost for stem cell researchers when the California Institute for Regerative Medicine recently announced that the first grant funding will flow from the state's stem cell agency, to the tune of $12.1...