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- 1From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedOtitis media with effusion (OME) is the commonest cause of hearing loss in children, yet the underlying genetic pathways and mechanisms involved are incompletely understood. Ventilation of the middle ear with...
- 2From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedSeckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and a unique head profile. Genetically, it constitutes a heterogeneous condition, with several loci mapped (SCKL1-5) but only...
- 3From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedCells rely on a network of conserved pathways to govern DNA replication fidelity. Loss of polymerase proofreading or mismatch repair elevates spontaneous mutation and facilitates cellular adaptation. However, double...
- 4From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedRNA polymerase II synthesizes a diverse set of transcripts including both protein-coding and non-coding RNAs. One major difference between these two classes of transcripts is the mechanism of termination. Messenger RNA...
- 5From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedThe extraordinary phenotypic diversity of dog breeds has been sculpted by a unique population history accompanied by selection for novel and desirable traits. Here we perform a comprehensive analysis using multiple test...
- 6From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedDifferences in the level, timing, or location of gene expression can contribute to alternative phenotypes at the molecular and organismal level. Understanding the origins of expression differences is complicated by the...
- 7From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedThe transforming growth factor [beta] (TGF[beta]) superfamily proteins are principle regulators of numerous biological functions. Although recent studies have gained tremendous insights into this growth factor family in...
- 8From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedProtein function is encoded within protein sequence and protein domains. However, how protein domains cooperate within a protein to modulate overall activity and how this impacts functional diversification at the...
- 9From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedIn eukaryotes, histone H3 lysine 9 methylation (H3K9me) mediates silencing of invasive sequences to prevent deleterious consequences including the expression of aberrant gene products and mobilization of transposons. In...
- 10From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedDuring development, cell polarization is often coordinated to harmonize tissue patterning and morphogenesis. However, how extrinsic signals synchronize cell polarization is not understood. In Caenorhabditis elegans,...
- 11From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedDespite evidence of the clustering of metabolic syndrome components, current approaches for identifying unifying genetic mechanisms typically evaluate clinical categories that do not provide adequate etiological...
- 12From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedCiliopathies are pleiotropic and genetically heterogeneous disorders caused by defective development and function of the primary cilium. Bardet-Biedl syndrome (BBS) proteins localize to the base of cilia and undergo...
- 13From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedRenal tumor heterogeneity studies have utilized the von Hippel-Lindau VHL gene to classify disease into molecularly defined subtypes to examine associations with etiologic risk factors and prognosis. The aim of this...
- 14From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedThe bicoid stability factor (BSF) of Drosophila melanogaster has been reported to be present in the cytoplasm, where it stabilizes the maternally contributed bicoid mRNA and binds mRNAs expressed from early zygotic...
- 15From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedUpon fertilization, reprogramming of gene expression is required for embryo development. This step is marked by DNA demethylation and changes in histone variant composition. However, little is known about the molecular...
- 16From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedIn past years, much attention has focused on the gene networks that regulate early developmental processes, but less attention has been paid to how multiple networks and processes are temporally coordinated. Recently...
- 17From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedWe previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a...
- 18From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedAdult height is a classic polygenic trait of high heritability ([h.sup.2] ~0.8). More than 180 single nucleotide polymorphisms (SNPs), identified mostly in populations of European descent, are associated with height....
- 19From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedUsing small molecule probes to understand gene function is an attractive approach that allows functional characterization of genes that are dispensable in standard laboratory conditions and provides insight into the...
- 20From: PLoS Genetics. (Vol. 7, Issue 10) Peer-ReviewedAdenosine-to-inosine modification of RNA molecules (A-to-I RNA editing) is an important mechanism that increases transciptome diversity. It occurs when a genomically encoded adenosine (A) is converted to an inosine (I)...