Genomes and Genes
Experts and Doctors on phenotype in United States
Locale: United States
Publications925 found, 100 shown here
- Youngs E, Henkhaus R, Hellings J, Butler M. IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features. Eur J Med Genet. 2012;55:32-6 pubmed publisher..Additional reports are needed to further characterize whether syndromic features are related to disturbances of this gene. ..
- Smith D, Guo K, Barrett B, Heilman K, Evans L, Hasenkrug K, et al. Noninfectious retrovirus particles drive the APOBEC3/Rfv3 dependent neutralizing antibody response. PLoS Pathog. 2011;7:e1002284 pubmed publisher..By analogy, maximizing the release of noninfectious particles by modulating APOBEC3 expression may improve humoral immunity against pathogenic human retroviral infections. ..
- Azen E, Latreille P, Niece R. PRBI gene variants coding for length and null polymorphisms among human salivary Ps, PmF, PmS, and Pe proline-rich proteins (PRPs). Am J Hum Genet. 1993;53:264-78 pubmed..The PmF- and PmS- phenotypes in the three subjects were due to both the stop mutation and the lack of suitable proteolytic cleavage sites in the PRB1-coded precursor proteins. ..
- Fonck C, Nashmi R, Deshpande P, Damaj M, Marks M, Riedel A, et al. Increased sensitivity to agonist-induced seizures, straub tail, and hippocampal theta rhythm in knock-in mice carrying hypersensitive alpha 4 nicotinic receptors. J Neurosci. 2003;23:2582-90 pubmed..These data support the possible involvement of gain-of-function alpha4 receptors in autosomal dominant nocturnal frontal-lobe epilepsy. ..
- Yilmaz A, Davis M, Simmen R. Estimation of (co)variance components for reproductive traits in Angus beef cattle divergently selected for blood serum IGF-I concentration. J Anim Sci. 2004;82:2285-92 pubmed..23. These results suggest that selection for increased serum IGF-I concentration should result in increased scrotal circumference, percent motile sperm cells, and calving rate. ..
- Scheffler B, Walton N, Lin D, Goetz A, Enikolopov G, Roper S, et al. Phenotypic and functional characterization of adult brain neuropoiesis. Proc Natl Acad Sci U S A. 2005;102:9353-8 pubmed
- Zhu X, Sen J, Stevens L, Goltz J, Stein D. Drosophila pipe protein activity in the ovary and the embryonic salivary gland does not require heparan sulfate glycosaminoglycans. Development. 2005;132:3813-22 pubmed..Taken together, our data provide evidence that Pipe acts as a sulfotransferase, but argue against the hypothesis that the target of Pipe is a heparan sulfate glycosaminoglycan. ..
- Kachroo P, Venugopal S, Navarre D, Lapchyk L, Kachroo A. Role of salicylic acid and fatty acid desaturation pathways in ssi2-mediated signaling. Plant Physiol. 2005;139:1717-35 pubmed
- Smith M, Turner F, Raff R. Nodal expression and heterochrony in the evolution of dorsal-ventral and left-right axes formation in the direct-developing sea urchin Heliocidaris erythrogramma. J Exp Zool B Mol Dev Evol. 2008;310:609-22 pubmed publisher..These highly modified events are linked to the dramatic modifications of larval morphology that have occurred during the evolution of direct development in H. erythrogramma...
- MILNER L, Buck K. Identifying quantitative trait loci (QTLs) and genes (QTGs) for alcohol-related phenotypes in mice. Int Rev Neurobiol. 2010;91:173-204 pubmed publisher..Here, we present QTG identification strategies currently used in the field of alcohol genetics and discuss relevance to alcoholic human populations. ..
- Xu R, Li L, Wang Q. dRiskKB: a large-scale disease-disease risk relationship knowledge base constructed from biomedical text. BMC Bioinformatics. 2014;15:105 pubmed publisher..This unique dRiskKB, when combined with existing phenotypic, genetic, and genomic datasets, can have profound implications in our deeper understanding of disease etiology and in drug repositioning. ..
- Arnegard M, McGee M, Matthews B, Marchinko K, Conte G, Kabir S, et al. Genetics of ecological divergence during speciation. Nature. 2014;511:307-11 pubmed publisher..This functional mismatch might lead to hybrid incompatibilities that are analogous to those underlying intrinsic reproductive isolation but depend on the ecological context. ..
- Tyson G, Li C, Ayers S, McDermott P, Zhao S. Using whole-genome sequencing to determine appropriate streptomycin epidemiological cutoffs for Salmonella and Escherichia coli. FEMS Microbiol Lett. 2016;363: pubmed publisher..coli, to be used widely as ECVs to categorize non-wild-type isolates. ..
- O Malley J, Kumar R, Kuzmin A, Pliss A, Yadav N, Balachandar S, et al. Lipid quantification by Raman microspectroscopy as a potential biomarker in prostate cancer. Cancer Lett. 2017;397:52-60 pubmed publisher..Correlation between lipid accumulation and tumor stage provides quantitative marker for PCa diagnosis. Thus, Raman spectroscopy-based lipid quantification could be a sensitive and reliable tool for PCa diagnosis and staging. ..
- Mohler W, Shemer G, del Campo J, Valansi C, Opoku Serebuoh E, Scranton V, et al. The type I membrane protein EFF-1 is essential for developmental cell fusion. Dev Cell. 2002;2:355-62 pubmed..Thus, EFF-1 is a key component in the mechanism of cell fusion, a process essential to normal animal development. ..
- Dietrich J, Noble M, Mayer Proschel M. Characterization of A2B5+ glial precursor cells from cryopreserved human fetal brain progenitor cells. Glia. 2002;40:65-77 pubmed
- Huang P, Gautschi M, Walter W, Rospert S, Craig E. The Hsp70 Ssz1 modulates the function of the ribosome-associated J-protein Zuo1. Nat Struct Mol Biol. 2005;12:497-504 pubmed
- Peña M, Zhong R, Zhou G, Richardson E, O Neill M, Darvill A, et al. Arabidopsis irregular xylem8 and irregular xylem9: implications for the complexity of glucuronoxylan biosynthesis. Plant Cell. 2007;19:549-63 pubmed..Our results suggest that IRX9 is required for normal GX elongation and indicate roles for IRX8 and FRA8 in the synthesis of the glycosyl sequence at the GX reducing end. ..
- Yang P, Smalle J, Lee S, Yan N, Emborg T, Vierstra R. Ubiquitin C-terminal hydrolases 1 and 2 affect shoot architecture in Arabidopsis. Plant J. 2007;51:441-57 pubmed
- Feiz L, Beecher B, Martin J, Giroux M. In planta mutagenesis determines the functional regions of the wheat puroindoline proteins. Genetics. 2009;183:853-60 pubmed publisher..This study demonstrates the feasibility of in planta functional analysis of wheat proteins and that the Tryptophan-rich region is the most important region of both PINA and PINB...
- Xiao L, Naganawa T, Lorenzo J, Carpenter T, Coffin J, Hurley M. Nuclear isoforms of fibroblast growth factor 2 are novel inducers of hypophosphatemia via modulation of FGF23 and KLOTHO. J Biol Chem. 2010;285:2834-46 pubmed publisher..In addition, immunohistochemistry demonstrated co-localization of FGF23 and HMW FGF2 protein in osteoblasts and osteocytes from Hyp mice. This study reveals a novel mechanism of regulation of the FGF23-P(i) homeostatic axis...
- Nguyen H, Wharton W, Harper J, Dornhoffer J, Duina A. A nucleosomal region important for ensuring proper interactions between the transcription elongation factor Spt16 and transcribed genes in Saccharomyces cerevisiae. G3 (Bethesda). 2013;3:929-40 pubmed publisher..Collectively, our results suggest that a nucleosomal region encompassing the H4-R36, H4-K31, and H3-L61 residues plays an important role in ensuring proper association of yFACT across transcribed genes. ..
- PÃ©rez Escobar O, Gottschling M, Whitten W, Salazar G, Gerlach G. Sex and the Catasetinae (Darwin's favourite orchids). Mol Phylogenet Evol. 2016;97:1-10 pubmed publisher..Thus, prior gain of protandry appears as the necessary prerequisite for gain of ESD in orchids. Our results contribute to a comprehensive evolutionary scenario for sexual systems in Catasetinae and more generally in orchids as well. ..
- Hanekamp T, Thorsness P. YNT20, a bypass suppressor of yme1 yme2, encodes a putative 3'-5' exonuclease localized in mitochondria of Saccharomyces cerevisiae. Curr Genet. 1999;34:438-48 pubmed..YNT20p is a soluble mitochondrial protein that belongs to a subfamily of putative 3'-5' exonucleases. Furthermore, conserved sequence elements in Yme2p suggest that this protein may also function as an exonuclease. ..
- Croniger C, Millward C, Yang J, Kawai Y, Arinze I, Liu S, et al. Mice with a deletion in the gene for CCAAT/enhancer-binding protein beta have an attenuated response to cAMP and impaired carbohydrate metabolism. J Biol Chem. 2001;276:629-38 pubmed..C/EBP beta influences the regulation of carbohydrate metabolism by altering the level of hepatic cAMP and the activity of protein kinase A. ..
- Otipoby K, Draves K, Clark E. CD22 regulates B cell receptor-mediated signals via two domains that independently recruit Grb2 and SHP-1. J Biol Chem. 2001;276:44315-22 pubmed..We propose that the cytoplasmic tail of CD22 contains two domains that regulate signal transduction pathways initiated by the BCR and B cell fate. ..
- Shuai B, Reynaga Peña C, Springer P. The lateral organ boundaries gene defines a novel, plant-specific gene family. Plant Physiol. 2002;129:747-61 pubmed..The expression of LOB at the base of lateral organs suggests a potential role for LOB in lateral organ development. ..
- Gary B, Azuero R, Mohanty G, Bell W, Eltoum I, Abdulkadir S. Interaction of Nkx3.1 and p27kip1 in prostate tumor initiation. Am J Pathol. 2004;164:1607-14 pubmed..Thus Nkx3.1 and p27kip1 regulate prostatic epithelial cell proliferation and tumor initiation by affecting both haploinsufficient and nonhaploinsufficient pathways. ..
- Hoopes R, Middleton F, Sen S, Hueber P, Reid R, Bushinsky D, et al. Isolation and confirmation of a calcium excretion quantitative trait locus on chromosome 1 in genetic hypercalciuric stone-forming congenic rats. J Am Soc Nephrol. 2006;17:1292-304 pubmed..This is the first QTL for hypercalciuria to be isolated in a congenic animal. ..
- Pandey J, Nasr A, Rocca K, Troy Blomberg M, Elghazali G. Significant differences in GM allotype frequencies between two sympatric tribes with markedly differential susceptibility to malaria. Parasite Immunol. 2007;29:267-9 pubmed..03). These data suggest that GM allotypes may contribute to the genetic aetiology of malaria. ..
- Zarnowski R, Connolly P, Wheat L, Woods J. Production of extracellular proteolytic activity by Histoplasma capsulatum grown in Histoplasma-macrophage medium is limited to restriction fragment length polymorphism class 1 isolates. Diagn Microbiol Infect Dis. 2007;59:39-47 pubmed..Overall, the feature of extracellular proteolytic activity production enables a convenient and unequivocal identification of RFLP class 1 isolates and, thereby, can be used in H. capsulatum strain differentiation and typing. ..
- Duesterhoeft S, Ernst L, Siebert J, Kapur R. Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum. Am J Med Genet A. 2007;143A:3175-84 pubmed
- Ohlemiller K, Rybak Rice M, Rellinger E, Ortmann A. Divergence of noise vulnerability in cochleae of young CBA/J and CBA/CaJ mice. Hear Res. 2011;272:13-20 pubmed publisher..Since the cochlear cells whose fragility defines the early window appear to be hair cells, these loci may principally impact the mechanical or metabolic resiliency of hair cells or the organ of Corti...
- Layton W, Layton M, Binder M, Kurnit D, Hanzlik A, Van Keuren M, et al. Expression of the IV (reversed and/or heterotaxic) phenotype in SWV mice. Teratology. 1993;47:595-602 pubmed..These findings are consistent with the idea that this phenomenon is due to the interaction of the iv gene with another gene found so far only in the SWV strain. ..
- Semple Rowland S, Gorczyca W, Buczylko J, Helekar B, Ruiz C, Subbaraya I, et al. Expression of GCAP1 and GCAP2 in the retinal degeneration (rd) mutant chicken retina. FEBS Lett. 1996;385:47-52 pubmed
- Schwartz C, Djaman O, Imlay J, Kiley P. The cysteine desulfurase, IscS, has a major role in in vivo Fe-S cluster formation in Escherichia coli. Proc Natl Acad Sci U S A. 2000;97:9009-14 pubmed..The lack of IscS also had a general effect on the growth of E. coli because the iscS deletion strain grew at half the rate of wild type in many types of media even when the auxotrophies were satisfied. ..
- Phelan S, Beier D, Higgins D, Paigen B. Confirmation and high resolution mapping of an atherosclerosis susceptibility gene in mice on Chromosome 1. Mamm Genome. 2002;13:548-53 pubmed..Since LDL oxidation has been implicated in the pathogenesis of this disease, and AOP2 possesses antioxidant activity, we suggest the role of Aop2 in atherosclerosis susceptibility needs to be further explored. ..
- Desai A, McGuigan J, Draganov P. Zollinger-Ellison phenotype in the absence of hypergastrinemia and islet-cell tumor. Int J Gastrointest Cancer. 2005;35:157-61 pubmed
- Masternak M, Al Regaiey K, Del Rosario Lim M, Jimenez Ortega V, Panici J, Bonkowski M, et al. Effects of caloric restriction on insulin pathway gene expression in the skeletal muscle and liver of normal and long-lived GHR-KO mice. Exp Gerontol. 2005;40:679-84 pubmed..The results also show that improved insulin sensitivity in response to CR is not due to increased mRNA expression of the above genes in either normal or GHR-KO animals. ..
- McMillan A, Bagley M, Jackson S, Nacci D. Genetic diversity and structure of an estuarine fish (Fundulus heteroclitus) indigenous to sites associated with a highly contaminated urban harbor. Ecotoxicology. 2006;15:539-48 pubmed..Alternatively, loss in diversity may have been restored with moderate levels of migration and relatively short generation time for this species. ..
- Sahi C, Craig E. Network of general and specialty J protein chaperones of the yeast cytosol. Proc Natl Acad Sci U S A. 2007;104:7163-8 pubmed..However, a subset of Hsp70 functions requires specific J protein partners, likely demanding either sublocalization within the compartment or binding to specific client proteins. ..
- Nakazato T, Bogonovich M, Moyle L. Environmental factors predict adaptive phenotypic differentiation within and between two wild Andean tomatoes. Evolution. 2008;62:774-92 pubmed publisher..The strongest trait-environment associations involve temperature and precipitation gradients, suggesting these climatic factors are predominant drivers of adaptive diversification in these species. ..
- Pedram A, Razandi M, Kim J, O Mahony F, Lee E, Luderer U, et al. Developmental phenotype of a membrane only estrogen receptor alpha (MOER) mouse. J Biol Chem. 2009;284:3488-95 pubmed publisher..These results provide strong evidence that the normal development and adult functions of important organs in female mice requires nuclear ERalpha and is not rescued by membrane ERalpha domain expression alone. ..
- Dabbs K, Jones J, Seidenberg M, Hermann B. Neuroanatomical correlates of cognitive phenotypes in temporal lobe epilepsy. Epilepsy Behav. 2009;15:445-51 pubmed publisher..Empirically derived cognitive phenotypes are associated with the presence, severity, and distribution of anatomic abnormalities in widely distributed cortical, subcortical, callosal, and cerebellar networks. ..
- Wessels F, Kristal R, Netter F, Hatle J, Hahn D. Does it pay to delay? Flesh flies show adaptive plasticity in reproductive timing. Oecologia. 2011;165:311-20 pubmed publisher..These results indicate that the reproductive delay in S. crassipalpis is consistent with adaptive post-threshold plasticity, a nutritionally linked reproductive strategy that has not been reported previously in an invertebrate species. ..
- Metzeler K, Maharry K, Radmacher M, Mrozek K, Margeson D, Becker H, et al. TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: a Cancer and Leukemia Group B study. J Clin Oncol. 2011;29:1373-81 pubmed publisher..Our data suggest that these patients may be candidates for alternative therapies. ..
- Lee M, Bakir A, Nguyen K, Bachant J. The SUMO isopeptidase Ulp2p is required to prevent recombination-induced chromosome segregation lethality following DNA replication stress. PLoS Genet. 2011;7:e1001355 pubmed publisher..At the same time, Ulp2p is also required to either suppress or resolve recombination-induced attachments between sister chromatids. These opposing defects may synergize to greatly increase the toxicity of DNA replication stress. ..
- Roff D, Fairbairn D. The costs of being dark: the genetic basis of melanism and its association with fitness-related traits in the sand cricket. J Evol Biol. 2013;26:1406-16 pubmed publisher..Our results support the general hypothesis that melanization is costly for insects and negatively impacts investment in early reproduction. ..
- Viswanathan M, Kaushik G, Engler A, Lehman W, Cammarato A. A Drosophila melanogaster model of diastolic dysfunction and cardiomyopathy based on impaired troponin-T function. Circ Res. 2014;114:e6-17 pubmed publisher..The Drosophila upheld(101) Glu/Lys amino acid substitution lies C-terminally adjacent to this phylogenetically conserved sequence...
- Wu W, Bleecker E, Moore W, Busse W, Castro M, Chung K, et al. Unsupervised phenotyping of Severe Asthma Research Program participants using expanded lung data. J Allergy Clin Immunol. 2014;133:1280-8 pubmed publisher..The unsupervised machine learning approaches used here provide unique insights into disease, confirming other approaches while revealing novel additional phenotypes. ..
- Carroll J, Cole S, Seeman T, Breen E, Witarama T, Arevalo J, et al. Partial sleep deprivation activates the DNA damage response (DDR) and the senescence-associated secretory phenotype (SASP) in aged adult humans. Brain Behav Immun. 2016;51:223-9 pubmed publisher..These findings causally link sleep deprivation to the molecular processes associated with biological aging. ..
- de Kock L, Wang Y, Revil T, Badescu D, Rivera B, Sabbaghian N, et al. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. J Med Genet. 2016;53:43-52 pubmed publisher..Furthermore, the molecular barcode-containing HaloPlex(HS) provides the sensitivity required for detection of such low-level mosaic mutations and could have general applicability. ..
- Kornegay J, Bogan D, Bogan J, Dow J, Wang J, Fan Z, et al. Dystrophin-deficient dogs with reduced myostatin have unequal muscle growth and greater joint contractures. Skelet Muscle. 2016;6:14 pubmed publisher..While muscle imbalance is not a feature of myostatin inhibition in mdx mice, findings in a larger animal model could translate to human experience with myostatin inhibitors. ..
- Cerosaletti K, Fournier R. Extinction of albumin gene expression in a panel of human chromosome 2 microcell hybrids. Genomics. 1996;31:348-58 pubmed..These data define and map a genetic locus on human chromosome 2 that extinguishes albumin gene expression in trans, and they suggest that TSE2-mediated extinction is independent of HNF-1, -4, -3 alpha, and -3 beta expression. ..
- Shoemaker A, Gould K, Luongo C, Moser A, Dove W. Studies of neoplasia in the Min mouse. Biochim Biophys Acta. 1997;1332:F25-48 pubmed
- Garland T, Morgan M, Swallow J, Rhodes J, Girard I, Belter J, et al. Evolution of a small-muscle polymorphism in lines of house mice selected for high activity levels. Evolution. 2002;56:1267-75 pubmed
- Jin J, Ding J. Analysis of Meox-2 mutant mice reveals a novel postfusion-based cleft palate. Dev Dyn. 2006;235:539-46 pubmed..This article is the first report of a gene required to maintain adherence of the palatal shelves after fusion. ..
- McAlpine C, Barak Y, Matise I, Cormier R. Intestinal-specific PPARgamma deficiency enhances tumorigenesis in ApcMin/+ mice. Int J Cancer. 2006;119:2339-46 pubmed..Our results suggest that PPARgamma functions as a tumor resistance factor in the mouse intestine and warrant further investigation of the PPARgamma-dependent and independent actions of TZDs in cancer. ..
- Bushey D, Hughes K, Tononi G, Cirelli C. Sleep, aging, and lifespan in Drosophila. BMC Neurosci. 2010;11:56 pubmed publisher..Sleep quality does not necessarily decay as flies age, suggesting that aging-related sleep fragmentation may also depend on many factors, including genetic background and rearing conditions. ..
- Warren R, Merritt P, Holub E, Innes R. Identification of three putative signal transduction genes involved in R gene-specified disease resistance in Arabidopsis. Genetics. 1999;152:401-12 pubmed..The pbs mutations are recessive and have been mapped to chromosomes I (pbs2) and V (pbs1 and pbs3). ..
- Ianakiev P, Kilpatrick M, Toudjarska I, Basel D, Beighton P, Tsipouras P. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet. 2000;67:59-66 pubmed
- Beckwith W, McAlear M. Allele-specific interactions between the yeast RFC1 and RFC5 genes suggest a basis for RFC subunit-subunit interactions. Mol Gen Genet. 2000;264:378-91 pubmed..Comparisons of the structures of related RFC box-containing proteins suggest that these RFC motifs may function to coordinate interactions between neighboring subunits of multi-subunit ATPases. ..
- Sood H, Hunt M, Tyagi S. Peroxisome proliferator ameliorates endothelial dysfunction in a murine model of hyperhomocysteinemia. Am J Physiol Lung Cell Mol Physiol. 2003;284:L333-41 pubmed..2 +/- 1.9, 9.7 +/- 0.2, 16.6 +/- 0.8 (P < 0.05 compared with WT), 13.1 +/- 2.1 dyn/cm(2). The results suggest that Hcy increased aortic wall stress by increasing nitrotyrosine and MMP-9 activity. ..
- Shworak N, HajMohammadi S, de Agostini A, Rosenberg R. Mice deficient in heparan sulfate 3-O-sulfotransferase-1: normal hemostasis with unexpected perinatal phenotypes. Glycoconj J. 2002;19:355-61 pubmed..Moreover, the unanticipated non-thrombotic phenotypes suggest structure(s) derived from this enzyme might serve additional/alternative biologic roles. ..
- Lei Z, Mishra S, Ponnuru P, Li X, Yang Z, Rao C. Testicular phenotype in luteinizing hormone receptor knockout animals and the effect of testosterone replacement therapy. Biol Reprod. 2004;71:1605-13 pubmed
- Kaeberlein M, Kirkland K, Fields S, Kennedy B. Sir2-independent life span extension by calorie restriction in yeast. PLoS Biol. 2004;2:E296 pubmed..These findings indicate that Sir2 and calorie restriction act in parallel pathways to promote longevity in yeast and, perhaps, higher eukaryotes. ..
- Barker C, McHale M, Gillies A, Waller J, Pearce D, Osborne J, et al. The development and characterization of an in vitro model of psoriasis. J Invest Dermatol. 2004;123:892-901 pubmed..This study represents a comprehensive characterization of psoriatic human skin reconstructed in vitro, and demonstrates the potential of this model as a valuable tool in drug discovery. ..
- Warshawsky I, Rudick R, Staugaitis S, Natowicz M. Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. Ann Neurol. 2005;58:470-3 pubmed..This case goes against dogma that mothers of severely affected sons are asymptomatic as adults and expands the differential diagnosis of primary progressive multiple sclerosis to include proteolipid protein 1 gene mutations. ..
- Fairbairn D. Allometry for sexual size dimorphism: testing two hypotheses for Rensch's rule in the water strider Aquarius remigis. Am Nat. 2005;166 Suppl 4:S69-84 pubmed..quot; While this hypothesis is unlikely to explain Rensch's rule among species or higher clades, it may explain widespread patterns of intraspecific variation in SSD recently documented for many insect species. ..
- Kyrkanides S, Miller J, Tallents R, Brouxhon S, Centola G, Olschowka J. Intraperitoneal inoculation of Sandhoff mouse neonates with an HIV-1 based lentiviral vector exacerbates the attendant neuroinflammation and disease phenotype. J Neuroimmunol. 2007;188:39-47 pubmed..We observed an increase and acceleration in the presence of MHC-II and CD45+ cells in their brains, along with neuroinflammation, but not in control heterozygous or wild type littermates that also received the same treatment. ..
- Lindsey R, Ha Y, Momany M. A septin from the filamentous fungus A. nidulans induces atypical pseudohyphae in the budding yeast S. cerevisiae. PLoS ONE. 2010;5:e9858 pubmed publisher..That introduction of the A. nidulans septin AspC into S. cerevisiae induces a shift from formation of buds to formation of atypical pseudohyphae suggests that septins play an important role in the morphological plasticity of fungi. ..
- Perry G, Sagvolden T, Faraone S. Intra-individual variability in genetic and environmental models of attention-deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:1094-101 pubmed publisher..These findings also obliquely support the SHR as a useful model for ADHD overall. ..
- West F, Mumaw J, Gallegos Cárdenas A, Young A, Stice S. Human haploid cells differentiated from meiotic competent clonal germ cell lines that originated from embryonic stem cells. Stem Cells Dev. 2011;20:1079-88 pubmed publisher..The robust clonal meiotic competent and incompetent GLC lines will be used to understand the factors controlling human germ cell meiosis and postmeiotic maturation. ..
- Crozier L, Scheuerell M, Zabel R. Using time series analysis to characterize evolutionary and plastic responses to environmental change: a case study of a shift toward earlier migration date in sockeye salmon. Am Nat. 2011;178:755-73 pubmed publisher..This method is applicable to other populations with time series data if selection differentials are available or can be reconstructed. This method thus augments our toolbox for predicting responses to environmental change. ..
- Kim J, Kwon Y. Identification of target transcripts regulated by small RNA RyhB homologs in Salmonella: RyhB-2 regulates motility phenotype. Microbiol Res. 2013;168:621-9 pubmed publisher..Collectively, our results suggest the regulatory roles of RyhB-1 and RyhB-2 in Salmonella on multiple cellular pathways, including motility, at a post-transcriptional level. ..
- Rottier R, Bonten E, d Azzo A. A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse. Hum Mol Genet. 1998;7:313-21 pubmed..The mutant enzyme is correctly compartmentalized in lysosomes and maintains the ability to associate with its activating protein, PPCA. We propose that it is this mutation that is responsible for the SM/J phenotype. ..
- Semple Rowland S, Lee N, Van Hooser J, Palczewski K, Baehr W. A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc Natl Acad Sci U S A. 1998;95:1271-6 pubmed..Thus, the rd chicken is a model for human Leber's congenital amaurosis. Absence of GC1 in rd retina prevents phototransduction and affects survival of rods and cones but does not interfere with normal photoreceptor development. ..
- She J, Ellis T, Wilson S, Wasserfall C, Marron M, Reimsneider S, et al. Heterophile antibodies segregate in families and are associated with protection from type 1 diabetes. Proc Natl Acad Sci U S A. 1999;96:8116-9 pubmed..008). These results suggest that heterophile antibodies represent an in vivo trait associated with self-tolerance and nonprogression to diabetes. ..
- Shou W, Sakamoto K, Keener J, Morimoto K, Traverso E, Azzam R, et al. Net1 stimulates RNA polymerase I transcription and regulates nucleolar structure independently of controlling mitotic exit. Mol Cell. 2001;8:45-55 pubmed..The independent functions of Net1 link a key event in the cell cycle to nucleolar processes that are fundamental to cell growth. ..
- Lossie A, Whitney M, Amidon D, Dong H, Chen P, Theriaque D, et al. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet. 2001;38:834-45 pubmed..Clinically, we were unable to distinguish between UPD and ID patients, suggesting that 15q11-q13 contains the only significant maternally expressed imprinted genes on chromosome 15. ..
- Ludlam W, Taylor M, Tanner K, Denu J, Goodman R, Smolik S. The acetyltransferase activity of CBP is required for wingless activation and H4 acetylation in Drosophila melanogaster. Mol Cell Biol. 2002;22:3832-41 pubmed..Furthermore, the effects of CBP AT activity are not limited to a few specific promoters, but rather CBT AT activity may play a role in regulating global histone acetylation throughout the developing organism. ..
- Hofer A, Tran R, Aziz O, Wright W, Novelli G, Shay J, et al. Shared phenotypes among segmental progeroid syndromes suggest underlying pathways of aging. J Gerontol A Biol Sci Med Sci. 2005;60:10-20 pubmed..On the basis of these results, we make several predictions and discuss how the segmental quality of progeroid syndromes may provide insight into normative aging. ..
- Ahn S, Lemos J, Burne R. Role of HtrA in growth and competence of Streptococcus mutans UA159. J Bacteriol. 2005;187:3028-38 pubmed
- Polevoda B, Span L, Sherman F. The yeast translation release factors Mrf1p and Sup45p (eRF1) are methylated, respectively, by the methyltransferases Mtq1p and Mtq2p. J Biol Chem. 2006;281:2562-71 pubmed..Most interestingly, the mtq2-Delta was significantly more resistant to the anti-microtubule drugs thiabendazole and benomyl, suggesting that Mtq2p may also methylate certain microtubule-related proteins. ..
- Hernandez A, Martinez M, Fiering S, Galton V, St Germain D. Type 3 deiodinase is critical for the maturation and function of the thyroid axis. J Clin Invest. 2006;116:476-84 pubmed..These mice provide a new model of central hypothyroidism and reveal a critical role for D3 in the maturation and function of the thyroid axis. ..
- Shippy T, Rogers C, Beeman R, Brown S, Denell R. The Tribolium castaneum ortholog of Sex combs reduced controls dorsal ridge development. Genetics. 2006;174:297-307 pubmed..Thus, we find that specific regions of Cephalothorax are required for discrete steps in dorsal ridge formation. ..