Genomes and Genes
Experts and Doctors on mutation in St Louis, Missouri, United States
Locale: St Louis, Missouri, United States
Publications221 found, 100 shown here
- Mason P, Bessler M. Heterozygous telomerase deficiency in mouse and man: when less is definitely not more. Cell Cycle. 2004;3:1127-9 pubmed..Here we review several scenarios in which telomerase levels are disturbed, in human diseases or following genetic manipulation in mice. ..
- Stewart R, Piccardo P, Ghetti B, Harris D. Neurodegenerative illness in transgenic mice expressing a transmembrane form of the prion protein. J Neurosci. 2005;25:3469-77 pubmed..Our results provide new insights into the cell biology of (Ctm)PrP, the mechanism by which it induces neurodegeneration, and possible cellular activities of PrP(C). ..
- Onken M, Worley L, Long M, Duan S, Council M, Bowcock A, et al. Oncogenic mutations in GNAQ occur early in uveal melanoma. Invest Ophthalmol Vis Sci. 2008;49:5230-4 pubmed publisher..Mutations in this G-protein-coupled receptor provide new insights into UM pathogenesis and could lead to new therapeutic possibilities. ..
- Harbour J, Roberson E, Anbunathan H, Onken M, Worley L, Bowcock A. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet. 2013;45:133-5 pubmed publisher..Thus, uveal melanoma is among a small group of cancers associated with SF3B1 mutations, and these mutations denote a distinct molecular subset of uveal melanomas...
- Le Gallo M, Rudd M, Urick M, Hansen N, Zhang S, Lozy F, et al. Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing. Cancer. 2017;123:3261-3268 pubmed publisher..Our findings demonstrate molecular similarities between CCEC and SEC and EEC and implicate TAF1 as a novel candidate CCEC driver gene. Cancer 2017;123:3261-8. © 2017 American Cancer Society. ..
- Langner C, Birkenmeier E, Ben Zeev O, Schotz M, Sweet H, Davisson M, et al. The fatty liver dystrophy (fld) mutation. A new mutant mouse with a developmental abnormality in triglyceride metabolism and associated tissue-specific defects in lipoprotein lipase and hepatic lipase activities. J Biol Chem. 1989;264:7994-8003 pubmed..This mutation could serve as a useful model for (i) analyzing the homeostatic mechanisms controlling lipid metabolism in newborn mice and (ii) understanding and treating certain inborn errors in human triglyceride metabolism. ..
- Zhang S, Xing H, Muslin A. Nuclear localization of protein kinase U-alpha is regulated by 14-3-3. J Biol Chem. 1999;274:24865-72 pubmed..These results suggest that the subcellular localization of PKUalpha is regulated, at least in part, by its association with 14-3-3. ..
- Hicks J, Deng W, Rogat A, Miller K, Bownes M. Class VI unconventional myosin is required for spermatogenesis in Drosophila. Mol Biol Cell. 1999;10:4341-53 pubmed..This report is the first identification of a component of the IC other than actin. We propose that 95F myosin is a motor that participates in membrane reorganization during individualization. ..
- Shih N, Li J, Cotran R, Mundel P, Miner J, Shaw A. CD2AP localizes to the slit diaphragm and binds to nephrin via a novel C-terminal domain. Am J Pathol. 2001;159:2303-8 pubmed..These studies lend further support to the idea that CD2AP plays a role in the structural integrity of the slit diaphragm. ..
- Chen Z, Fitzgerald R, Schonfeld G. Hypobetalipoproteinemic mice with a targeted apolipoprotein (Apo) B-27.6-specifying mutation: in vivo evidence for an important role of amino acids 1254-1744 of ApoB in lipid transport and metabolism of the apoB-containing lipoprotein. J Biol Chem. 2002;277:14135-45 pubmed..6-apoB-38.9 peptide segment (aa 1254-1744) plays a critical role, not only in supporting hepatic TG-secretion and in modulating catabolism of apoB-containing lipoproteins, but also in normal mouse embryonic development. ..
- Doray B, Bruns K, Ghosh P, Kornfeld S. Interaction of the cation-dependent mannose 6-phosphate receptor with GGA proteins. J Biol Chem. 2002;277:18477-82 pubmed..These studies provide an explanation for the observed differences in the relative affinities of the two MPRs for the GGA proteins. Furthermore, they indicate that the GGAs participate in lysosomal enzyme sorting mediated by the CD-MPR. ..
- Chun S, Fay J. Identification of deleterious mutations within three human genomes. Genome Res. 2009;19:1553-61 pubmed publisher..Our results indicate that only a small subset of deleterious mutations can be reliably identified, but that this subset provides the raw material for personalized medicine. ..
- Loh J, Popkin D, Droit L, Braaten D, Zhao G, Zhang X, et al. Specific mutation of a gammaherpesvirus-expressed antigen in response to CD8 T cell selection in vivo. J Virol. 2012;86:2887-93 pubmed publisher..This finding may have relevance for the use of herpesvirus vectors for chronic antigen expression in vivo. ..
- Hou J. The yin and yang of claudin-14 function in human diseases. Ann N Y Acad Sci. 2012;1258:185-90 pubmed publisher..In this short review, I discuss several possible mechanisms to integrate the physiological function of claudin-14 in the inner ear and the kidney. ..
- Babbitt S, Hsu J, Mendez D, Kranz R. Biosynthesis of Single Thioether c-Type Cytochromes Provides Insight into Mechanisms Intrinsic to Holocytochrome c Synthase (HCCS). Biochemistry. 2017;56:3337-3346 pubmed publisher..Since this aerobic modification occurs only in the context of CXXXH, we also propose that natural HCCS-mediated heme attachment to CXXCH likely initiates at the C-terminal cysteine. ..
- Williams B, Waterston R. Genes critical for muscle development and function in Caenorhabditis elegans identified through lethal mutations. J Cell Biol. 1994;124:475-90 pubmed..Similar evidence suggests that one of the genes associated with mild effects on lattice assembly may code for tropomyosin. Many of the newly identified genes are likely to play critical roles in muscle development and function. ..
- Naski M, Wang Q, Xu J, Ornitz D. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet. 1996;13:233-7 pubmed..Moreover, the mutations that are responsible for TD were more strongly activating than the mutation causing ACH, providing a biochemical explanation for the observation that the phenotype of TD is more severe than that of ACH...
- Enomoto H, Araki T, Jackman A, Heuckeroth R, Snider W, Johnson E, et al. GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys. Neuron. 1998;21:317-24 pubmed
- Bertram P, Choi J, Carvalho J, Ai W, Zeng C, Chan T, et al. Tripartite regulation of Gln3p by TOR, Ure2p, and phosphatases. J Biol Chem. 2000;275:35727-33 pubmed..In contrast to the free Gln3p, the Ure2p-bound Gln3p is signifcantly resistant to dephosphorylation. Taken together, these results reveal a tripartite regulatory mechanism by which the phosphorylation of Gln3p is regulated. ..
- Jiang Z, Tang H, Havlioglu N, Zhang X, Stamm S, Yan R, et al. Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta. J Biol Chem. 2003;278:18997-9007 pubmed..Our results implicate the human tau gene as a target gene for the alternative splicing regulator Tra2 beta, suggesting that Tra2 beta may play a role in aberrant tau exon 10 alternative splicing and in the pathogenesis of tauopathies. ..
- Takeshita J, Byun J, Nhan T, Pritchard D, Pennathur S, Schwartz S, et al. Myeloperoxidase generates 5-chlorouracil in human atherosclerotic tissue: a potential pathway for somatic mutagenesis by macrophages. J Biol Chem. 2006;281:3096-104 pubmed
- Akk G, Li P, Bracamontes J, Steinbach J. Activation and modulation of concatemeric GABA-A receptors expressed in human embryonic kidney cells. Mol Pharmacol. 2009;75:1400-11 pubmed publisher..The data indicate that the alpha1Q241W mutation acts as a partial steroid modulator. ..
- Grant G. Transient kinetic analysis of L-serine interaction with Escherichia coli D-3-phosphoglycerate dehydrogenase containing amino acid mutations in the hinge regions. Biochemistry. 2011;50:2900-6 pubmed publisher..The data also suggest that the E* form may be inactive even when serine is not bound. ..
- Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania F, Mitra R, et al. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLoS ONE. 2012;7:e31039 pubmed publisher..This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS. ..
- Wambach J, Casey A, Fishman M, Wegner D, Wert S, Cole F, et al. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med. 2014;189:1538-43 pubmed publisher..Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease. Most ABCA3 mutations are private...
- Dahms N, Kornfeld S. The cation-dependent mannose 6-phosphate receptor. Structural requirements for mannose 6-phosphate binding and oligomerization. J Biol Chem. 1989;264:11458-67 pubmed..Chemical cross-linking analyses of these mutant proteins indicate that the transmembrane domain is important for establishing the quaternary structure of the CD-MPR. ..
- Mouslim C, Latifi T, Groisman E. Signal-dependent requirement for the co-activator protein RcsA in transcription of the RcsB-regulated ugd gene. J Biol Chem. 2003;278:50588-95 pubmed..DNase footprinting analysis identified a PhoP-binding site in the ugd promoter. Yet, PhoP-mediated ugd transcription required either the RcsC/YojN/RcsB or the PmrA/PmrB systems. ..
- Niedziela Majka A, Heyduk T. Escherichia coli RNA polymerase contacts outside the -10 promoter element are not essential for promoter melting. J Biol Chem. 2005;280:38219-27 pubmed
- Chernock R, Perry A, Pfeifer J, Holden J, Lewis J. Receptor tyrosine kinases in sinonasal undifferentiated carcinomas--evaluation for EGFR, c-KIT, and HER2/neu expression. Head Neck. 2009;31:919-27 pubmed publisher..Neither activating mutations nor gene amplification of c-kit were detected in any of the 8 assessable tumors. c-KIT is frequently expressed in SNUC. However, the overexpression is not due to activating mutations or gene amplification. ..
- Iomini C, Li L, Esparza J, Dutcher S. Retrograde intraflagellar transport mutants identify complex A proteins with multiple genetic interactions in Chlamydomonas reinhardtii. Genetics. 2009;183:885-96 pubmed publisher..Since these tests show different levels of phenotypic sensitivity, we propose they illustrate different gradations of gene interaction between complex A proteins themselves and with a complex B protein (IFT172). ..
- Matzuk M, Keene J, Boime I. Site specificity of the chorionic gonadotropin N-linked oligosaccharides in signal transduction. J Biol Chem. 1989;264:2409-14 pubmed..The use of site-directed mutagenesis was critical in uncovering site-specific functions of the hCG N-linked oligosaccharides in signal transduction and reveals the importance of the Asn-52 oligosaccharide in this process. ..
- Girard T, Warren L, Novotny W, Likert K, Brown S, Miletich J, et al. Functional significance of the Kunitz-type inhibitory domains of lipoprotein-associated coagulation inhibitor. Nature. 1989;338:518-20 pubmed..We propose that in the putative inhibitory complex, Kunitz domain 1 is bound to the active site of VII(a)/TF and that Kunitz domain 2 is bound to Xa's active site. ..
- Porter B, Sanes J. Gated migration: neurons migrate on but not onto substrates containing S-laminin. Dev Biol. 1995;167:609-16 pubmed..Instead, s-laminin appears to block cell migration through a "gating" mechanism that acts primarily at borders. ..
- Erickson J, Johnston M. Suppressors reveal two classes of glucose repression genes in the yeast Saccharomyces cerevisiae. Genetics. 1994;136:1271-8 pubmed..We suggest that Reg1p, Gal82p and Gal83p act after the step(s) executed by Grr1p, possibly transmitting the signal for repression to the Snf1p protein kinase. ..
- Al Rabiee R, Zhang Y, Grant G. The mechanism of velocity modulated allosteric regulation in D-3-phosphoglycerate dehydrogenase. Site-directed mutagenesis of effector binding site residues. J Biol Chem. 1996;271:23235-8 pubmed
- Wilson T, Lieber M. Efficient processing of DNA ends during yeast nonhomologous end joining. Evidence for a DNA polymerase beta (Pol4)-dependent pathway. J Biol Chem. 1999;274:23599-609 pubmed..Pol4 is thus specifically recruited to perform gap-filling in an NHEJ pathway that must also involve as yet unidentified nucleases. ..
- Grady R, Grange R, Lau K, Maimone M, Nichol M, Stull J, et al. Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies. Nat Cell Biol. 1999;1:215-20 pubmed..These results indicate that both signalling and structural functions of the DGC are required for muscle stability, and implicate alpha-dystrobrevin in the former...
- Modur V, Nagarajan R, Evers B, Milbrandt J. FOXO proteins regulate tumor necrosis factor-related apoptosis inducing ligand expression. Implications for PTEN mutation in prostate cancer. J Biol Chem. 2002;277:47928-37 pubmed..These findings suggest that the decreased activity of FKHRL1 and FKHR in prostate cancers resulting from loss of PTEN leads to a decrease in TRAIL expression that may contribute to increased survival of the tumor cells. ..
- Lichtenstein D, Krajcsi P, Esteban D, Tollefson A, Wold W. Adenovirus RIDbeta subunit contains a tyrosine residue that is critical for RID-mediated receptor internalization and inhibition of Fas- and TRAIL-induced apoptosis. J Virol. 2002;76:11329-42 pubmed..These results suggest a model in which the tyrosine-based sorting signal in RID plays a role in RID's ability to down-regulate receptors. ..
- Grant G, Hu Z, Xu X. Hybrid tetramers reveal elements of cooperativity in Escherichia coli D-3-phosphoglycerate dehydrogenase. J Biol Chem. 2003;278:18170-6 pubmed..This trend is propagated to subsequent binding sites in the tetramer such that the negative cooperativity that is originally manifest at one interface is decreased by subsequent binding of ligand at the opposite interface. ..
- Pasieka T, Lu B, Crosby S, Wylie K, Morrison L, Alexander D, et al. Herpes simplex virus virion host shutoff attenuates establishment of the antiviral state. J Virol. 2008;82:5527-35 pubmed publisher..Together these data show that vhs likely functions to reduce innate immune responses and thereby acts as a critical determinant of viral pathogenesis. ..
- Hoppe P, Chau J, Flanagan K, Reedy A, Schriefer L. Caenorhabditis elegans unc-82 encodes a serine/threonine kinase important for myosin filament organization in muscle during growth. Genetics. 2010;184:79-90 pubmed publisher..We speculate that regulation of myosin is an ancestral characteristic of kinases in this region of the kinome. ..
- Chen Z, Datta S, Dubois J, Klinman J, Mathews F. Mutation at a strictly conserved, active site tyrosine in the copper amine oxidase leads to uncontrolled oxygenase activity. Biochemistry. 2010;49:7393-402 pubmed publisher..This new structure not only provides the first direct detection of peroxy intermediates in cofactor biogenesis but also indicates the critical control of oxidation chemistry that can be conferred by a single active site residue. ..
- Goodman A, Wu M, Gordon J. Identifying microbial fitness determinants by insertion sequencing using genome-wide transposon mutant libraries. Nat Protoc. 2011;6:1969-80 pubmed publisher..A protocol for characterizing libraries of transposon mutant strains clonally arrayed in a multiwell format is provided. ..
- McConechy M, Ding J, Cheang M, Wiegand K, Senz J, Tone A, et al. Use of mutation profiles to refine the classification of endometrial carcinomas. J Pathol. 2012;228:20-30 pubmed publisher..If used in practice, it may lead to improved diagnostic reproducibility and may also serve to stratify patients for targeted therapeutics...
- Taraseviciene L, Miczak A, Apirion D. The gene specifying RNase E (rne) and a gene affecting mRNA stability (ams) are the same gene. Mol Microbiol. 1991;5:851-5 pubmed
- Colvin J, Bohne B, Harding G, McEwen D, Ornitz D. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet. 1996;12:390-7 pubmed..Our results demonstrate that Fgfr3 is essential for normal endochondral ossification and inner ear development...
- Boudin H, Craig A. Molecular determinants for PICK1 synaptic aggregation and mGluR7a receptor coclustering: role of the PDZ, coiled-coil, and acidic domains. J Biol Chem. 2001;276:30270-6 pubmed..This study defined three structural signals within PICK1 regulating its synaptic localization and receptor coclustering activity, which could represent molecular substrates involved in synaptic development and plasticity. ..
- Schmidt S, Pautz A, Burgers P. ATP utilization by yeast replication factor C. IV. RFC ATP-binding mutants show defects in DNA replication, DNA repair, and checkpoint regulation. J Biol Chem. 2001;276:34792-800 pubmed..These data demonstrate that the ATP binding function of RFC2 is important for both DNA replication and checkpoint function and, for the first time, that RFC4 also plays a role in checkpoint regulation. ..
- Ornitz D, Marie P. FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev. 2002;16:1446-65 pubmed
- Rose T, LeMosy E, Cantwell A, Banerjee Roy D, Skeath J, Di Cera E. Three-dimensional models of proteases involved in patterning of the Drosophila Embryo. Crucial role of predicted cation binding sites. J Biol Chem. 2003;278:11320-30 pubmed..A mutation in Ea predicted to introduce Na(+) binding results in apparently increased activity with ventralization of the embryo, an effect not observed with wild-type Ea mRNA. ..
- Araki T, Sasaki Y, Milbrandt J. Increased nuclear NAD biosynthesis and SIRT1 activation prevent axonal degeneration. Science. 2004;305:1010-3 pubmed..These findings suggest that novel therapeutic strategies directed at increasing the supply of NAD and/or Sir2 activation may be effective for treatment of diseases characterized by axonopathy and neurodegeneration. ..
- Mittal V, Linder M. The RGS14 GoLoco domain discriminates among Galphai isoforms. J Biol Chem. 2004;279:46772-8 pubmed..The striking selectivity observed for RGS14 GDI activity in vitro points to Galphai1 and Galphai3 as the likely targets of RGS14-GoLoco regulation in vivo. ..
- Cam J, Zerbinatti C, Li Y, Bu G. Rapid endocytosis of the low density lipoprotein receptor-related protein modulates cell surface distribution and processing of the beta-amyloid precursor protein. J Biol Chem. 2005;280:15464-70 pubmed..Together, these data establish a relationship between LRP rapid endocytosis and APP trafficking and proteolytic processing to generate Abeta. ..
- Crouch E, Tu Y, Briner D, McDonald B, Smith K, Holmskov U, et al. Ligand specificity of human surfactant protein D: expression of a mutant trimeric collectin that shows enhanced interactions with influenza A virus. J Biol Chem. 2005;280:17046-56 pubmed..In addition, RAK resembled CL-43 in its greater capacity to inhibit the infectivity of influenza A virus and to increase uptake of influenza by neutrophils. ..
- Fleming R, Britton R, Waheed A, Sly W, Bacon B. Pathophysiology of hereditary hemochromatosis. Semin Liver Dis. 2005;25:411-9 pubmed..The mechanism by which HFE influences hepcidin expression is an area of current investigation and may offer insights into the phenotypic variability observed in persons with mutations in HFE. ..
- Wernet M, Mazzoni E, Celik A, Duncan D, Duncan I, Desplan C. Stochastic spineless expression creates the retinal mosaic for colour vision. Nature. 2006;440:174-80 pubmed publisher..Therefore, this study suggests that the entire retinal mosaic required for colour vision is defined by the stochastic expression of a single transcription factor, Spineless. ..
- Lu Z, Wright J, Belt B, Cardiff R, Arbeit J. Hypoxia-inducible factor-1 facilitates cervical cancer progression in human papillomavirus type 16 transgenic mice. Am J Pathol. 2007;171:667-81 pubmed
- Lauberth S, Bilyeu A, Firulli B, Kroll K, Rauchman M. A phosphomimetic mutation in the Sall1 repression motif disrupts recruitment of the nucleosome remodeling and deacetylase complex and repression of Gbx2. J Biol Chem. 2007;282:34858-68 pubmed
- Fukuyo Y, Inoue M, Nakajima T, Higashikubo R, Horikoshi N, Hunt C, et al. Oxidative stress plays a critical role in inactivating mutant BRAF by geldanamycin derivatives. Cancer Res. 2008;68:6324-30 pubmed publisher..These results suggest that in addition to direct inhibition of HSP90, the antitumor effect of geldanamycin and its derivatives is also mediated though the production of ROS, which may directly inactivate tumorigenic mutant BRAF(V600E). ..
- Masia R, Nichols C. Functional clustering of mutations in the dimer interface of the nucleotide binding folds of the sulfonylurea receptor. J Biol Chem. 2008;283:30322-9 pubmed publisher..Overall, the data support the idea that SUR1 NBFs assemble as heterodimers and that this interaction is functionally critical. ..
- Saifee O, Metz L, Nonet M, Crowder C. A gain-of-function mutation in adenylate cyclase confers isoflurane resistance in Caenorhabditis elegans. Anesthesiology. 2011;115:1162-71 pubmed publisher..Activation of neuronal adenylate cyclase antagonizes isoflurane inhibition of locomotion in C. elegans. ..
- Lu B, Lamora A, Sun Y, Welsh M, Ben Shahar Y. ppk23-Dependent chemosensory functions contribute to courtship behavior in Drosophila melanogaster. PLoS Genet. 2012;8:e1002587 pubmed publisher..Together, these data indicate that ppk23 and the cells expressing it play an important role in the peripheral sensory system that determines sexual behavior in Drosophila. ..
- Kim H, Huh J, Riles L, Reyes A, Fay J. A noncomplementation screen for quantitative trait alleles in saccharomyces cerevisiae. G3 (Bethesda). 2012;2:753-60 pubmed publisher..Our results highlight the difficulty of identifying small-effect alleles but support the use of noncomplementation as a rapid means of identifying quantitative trait alleles of large effect. ..
- Jablonka Shariff A, Boime I. A novel carboxyl-terminal heptapeptide initiates the regulated secretion of LH from unique sub-domains of the ER. PLoS ONE. 2013;8:e65002 pubmed publisher..These data suggest that, at least for LH, the molecular decision to enter the regulated secretory pathway is a pre-Golgi event controlled by the novel C-terminal heptapeptide. ..
- Yano H, Baranov S, Baranova O, Kim J, Pan Y, Yablonska S, et al. Inhibition of mitochondrial protein import by mutant huntingtin. Nat Neurosci. 2014;17:822-31 pubmed publisher..Collectively, these findings provide evidence for a direct link between mutant Htt, mitochondrial dysfunction and neuronal pathology, with implications for mitochondrial protein import-based therapies in HD. ..
- Chen Y, Wambach J, Depass K, Wegner D, Chen S, Zhang Q, et al. Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort. World J Pediatr. 2016;12:190-5 pubmed publisher..The contribution of these rare ABCA3 mutations to disease burden in the south China population is still unknown. ..
- Gottesman G, Madson K, McAlister W, Nenninger A, Wenkert D, Mumm S, et al. Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease. Am J Med Genet A. 2016;170A:978-85 pubmed publisher..Thus, AO is a newly recognized feature of JPD1, possibly exacerbated by BP treatment. Elastic cartilage at other sites in JPD1 might also ossify, and warrants investigation. ..
- Moerman D, Benian G, Barstead R, Schriefer L, Waterston R. Identification and intracellular localization of the unc-22 gene product of Caenorhabditis elegans. Genes Dev. 1988;2:93-105 pubmed..In one case, a truncated polypeptide was also identified. The location of the protein in the A-band, along with earlier genetic data, suggests that the unc-22 product may interact with myosin to regulate its function...
- Francis R, Barton M, Kimble J, Schedl T. gld-1, a tumor suppressor gene required for oocyte development in Caenorhabditis elegans. Genetics. 1995;139:579-606 pubmed..This function of gld-1 is inferred from a haplo-insufficient phenotype and from the properties of gain-of-function gld-1 mutations that cause alterations in the sexual identity of germ cells. ..
- Burgess R, Nguyen Q, Son Y, Lichtman J, Sanes J. Alternatively spliced isoforms of nerve- and muscle-derived agrin: their roles at the neuromuscular junction. Neuron. 1999;23:33-44 pubmed..Our results also suggest that the requirement of agrin for presynaptic differentiation is mediated indirectly by its ability to promote postsynaptic production or localization of appropriate retrograde signals. ..
- Harbour J, Luo R, Dei Santi A, Postigo A, Dean D. Cdk phosphorylation triggers sequential intramolecular interactions that progressively block Rb functions as cells move through G1. Cell. 1999;98:859-69 pubmed..Cdk4/6 is activated early in G1, blocking active repression by Rb. However, it is not until near the end of G1, when cyclin E is expressed and Cdk2 is activated, that Rb is prevented from binding and inactivating E2F. ..
- Li Y, van Kerkhof P, Marzolo M, Strous G, Bu G. Identification of a major cyclic AMP-dependent protein kinase A phosphorylation site within the cytoplasmic tail of the low-density lipoprotein receptor-related protein: implication for receptor-mediated endocytosis. Mol Cell Biol. 2001;21:1185-95 pubmed..Thus, the role of PKA phosphorylation of LRP in receptor-mediated endocytosis may provide a mechanism by which the endocytic function of LRP can be regulated by external signals. ..
- Brands A, Ho T. Function of a plant stress-induced gene, HVA22. Synthetic enhancement screen with its yeast homolog reveals its role in vesicular traffic. Plant Physiol. 2002;130:1121-31 pubmed..Based on these observations, we suggest that Yop1p/HVA22 regulates vesicular traffic in stressed cells either to facilitate membrane turnover, or to decrease unnecessary secretion. ..
- Kozel B, Wachi H, Davis E, Mecham R. Domains in tropoelastin that mediate elastin deposition in vitro and in vivo. J Biol Chem. 2003;278:18491-8 pubmed
- Rezaie A, Sun M, Gailani D. Contributions of basic amino acids in the autolysis loop of factor XIa to serpin specificity. Biochemistry. 2006;45:9427-33 pubmed..Arg-147 was also required for inhibition by alpha(1)-PI. Cumulatively, the results demonstrate that basic amino acids in the autolysis loop of fXIa are important determinants of serpin specificity...
- Schneider J, Finck B, Ren J, Standley K, Takagi M, Maclean K, et al. ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome. Cell Metab. 2006;4:377-89 pubmed..These results suggest that ATM-dependent stress pathways mediate susceptibility to the metabolic syndrome and that chloroquine or related agents promoting ATM activity could modulate insulin resistance and decrease vascular disease. ..
- Hilton M, Tu X, Wu X, Bai S, Zhao H, Kobayashi T, et al. Notch signaling maintains bone marrow mesenchymal progenitors by suppressing osteoblast differentiation. Nat Med. 2008;14:306-14 pubmed publisher..Thus, mesenchymal progenitors may be expanded in vitro by activating the Notch pathway, whereas bone formation in vivo may be enhanced by transiently suppressing this pathway. ..
- McBee A, Wegner D, Carlson C, Wambach J, Yang P, Heins H, et al. Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene. Pediatr Pulmonol. 2008;43:443-50 pubmed publisher..In contrast to SFTPB, disease alleles at SFTPC do not share a common haplotype background. Most sporadic mutations in SFTPC occurred on the paternal allele, but somatic recombination may be an important mechanism of mutation in SFTPC. ..
- Ju J, Miller S, Hanson P, Weihl C. Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease. J Biol Chem. 2008;283:30289-99 pubmed publisher..Our study emphasizes the importance of protein aggregate trafficking to inclusion bodies in degenerative diseases and the therapeutic benefit of inclusion body formation. ..
- Clerte C, Hall K. The domains of polypyrimidine tract binding protein have distinct RNA structural preferences. Biochemistry. 2009;48:2063-74 pubmed publisher..Since it can bind to short and long polypyrimidine tracts, structured or single-stranded, PTB takes on the role of a versatile adaptor protein that facilitates formation of RNA-protein regulatory complexes. ..
- Crouch E, Hartshorn K, Horlacher T, McDonald B, Smith K, Cafarella T, et al. Recognition of mannosylated ligands and influenza A virus by human surfactant protein D: contributions of an extended site and residue 343. Biochemistry. 2009;48:3335-45 pubmed publisher..Our findings demonstrate an extended ligand binding site for mannosylated ligands and the significant contribution of the 343 side chain to specific recognition of multivalent microbial ligands, including high-mannose viral glycans. ..
- Xuei X, Flury Wetherill L, Dick D, Goate A, Tischfield J, Nurnberger J, et al. GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:418-427 pubmed publisher..04), and a haplotype in GABRR2 was significantly overtransmitted to family members who met a broader definition of alcoholism (P = 0.002) as well as DSM-IV dependence (P = 0.04). ..
- Magassa N, Chandrasekaran S, Caparon M. Streptococcus pyogenes cytolysin-mediated translocation does not require pore formation by streptolysin O. EMBO Rep. 2010;11:400-5 pubmed publisher..Moreover, despite the ability of mutants to translocate SPN, their cytotoxic effect requires SLO pore formation. ..
- Navadgi Patil V, Kumar S, Burgers P. The unstructured C-terminal tail of yeast Dpb11 (human TopBP1) protein is dispensable for DNA replication and the S phase checkpoint but required for the G2/M checkpoint. J Biol Chem. 2011;286:40999-1007 pubmed publisher..Together with aromatic motifs identified previously in the Ddc1 subunit of 9-1-1, another activator of Mec1 kinase, they define a consensus structure for Mec1 activation. ..
- Chen H, Zhang B, Hicks L, Xiong L. A nucleotide metabolite controls stress-responsive gene expression and plant development. PLoS ONE. 2011;6:e26661 pubmed publisher..Taken together, our results demonstrate that PAP is critical for stress gene regulation and plant development, yet the FRY1 nucleotidase that catabolizes PAP may not be an in vivo salt toxicity target in Arabidopsis. ..
- Esparza J, O TOOLE E, Li L, Giddings T, Kozak B, Albee A, et al. Katanin localization requires triplet microtubules in Chlamydomonas reinhardtii. PLoS ONE. 2013;8:e53940 pubmed publisher..We suggest that the triplet microtubules are likely to play a key role in katanin p80 recruitment to the basal body of Chlamydomonas rather than the transition fibers that are needed for IFT localization...
- Benítez B, Karch C, Cai Y, Jin S, Cooper B, Carrell D, et al. The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers. PLoS Genet. 2013;9:e1003685 pubmed publisher..We demonstrate that the effect of PSEN1, p.E318G on AD susceptibility is largely dependent on an interaction with APOE-ε4 and mediated by an increased burden of Aβ deposition. ..
- Perathoner S, Daane J, Henrion U, Seebohm G, Higdon C, Johnson S, et al. Bioelectric signaling regulates size in zebrafish fins. PLoS Genet. 2014;10:e1004080 pubmed publisher..Our results provide evidence for a role of bioelectric signaling through K(+) channels in the regulation of allometric scaling and coordination of growth in the zebrafish. ..