Genomes and Genes
Experts and Doctors on mutation in United States
Locale: United States
Publications833 found, 100 shown here
- Govindasamy L, Kukar T, Lian W, Pedersen B, Gu Y, Agbandje McKenna M, et al. Structural and mutational characterization of L-carnitine binding to human carnitine acetyltransferase. J Struct Biol. 2004;146:416-24 pubmed..Site-directed mutagenesis and kinetic characterization reveals that Tyr(431), Thr(444), Arg(497), and Phe(545) are essential for high affinity binding of L-carnitine. ..
- Budanov A, Sablina A, Feinstein E, Koonin E, Chumakov P. Regeneration of peroxiredoxins by p53-regulated sestrins, homologs of bacterial AhpD. Science. 2004;304:596-600 pubmed..As modulators of peroxide signaling and antioxidant defense, sestrins constitute potential therapeutic targets. ..
- Weydt P, Yuen E, Ransom B, Moller T. Increased cytotoxic potential of microglia from ALS-transgenic mice. Glia. 2004;48:179-82 pubmed..Neonatal microglia, however, showed no differences. Our findings suggest an increased cytotoxic potential of adult mtSOD1 microglia, which only becomes apparent after microglial activation. ..
- Li X, Mariano N, Rahal J, Urban C, Drlica K. Quinolone-resistant Haemophilus influenzae: determination of mutant selection window for ciprofloxacin, garenoxacin, levofloxacin, and moxifloxacin. Antimicrob Agents Chemother. 2004;48:4460-2 pubmed..Successive mutations raised the mutant selection window. The wild-type selection window for garenoxacin, levofloxacin, and moxifloxacin was also measured. ..
- Dhawan P, Peng X, Sutton A, MacDonald P, Croniger C, Trautwein C, et al. Functional cooperation between CCAAT/enhancer-binding proteins and the vitamin D receptor in regulation of 25-hydroxyvitamin D3 24-hydroxylase. Mol Cell Biol. 2005;25:472-87 pubmed..These findings also indicate a novel role for C/EBPbeta in the cross talk between PTH and 1,25(OH)(2)D(3) that involves the regulation of VDR transcription. ..
- Bautista J, Tracewell C, Schlodder E, Cunningham F, Brudvig G, Diner B. Construction and characterization of genetically modified synechocystis sp. PCC 6803 photosystem II core complexes containing carotenoids with shorter pi-conjugation than beta-carotene. J Biol Chem. 2005;280:38839-50 pubmed..The ratio of Chl(+)/Car(+) is higher in the mutant core complexes, consistent with the higher reduction potential for Car(+). As the temperature increases, other carotenoids become accessible to oxidation by P(680)(+). ..
- Shifley E, Cole S. Lunatic fringe protein processing by proprotein convertases may contribute to the short protein half-life in the segmentation clock. Biochim Biophys Acta. 2008;1783:2384-90 pubmed publisher..These results have important implications for the mechanisms that contribute to the tight control of Notch signaling during vertebrate segmentation...
- Lynch K, Gerona R, Kielar D, Martens S, McMahon H, Martin T. Synaptotagmin-1 utilizes membrane bending and SNARE binding to drive fusion pore expansion. Mol Biol Cell. 2008;19:5093-103 pubmed publisher..The results indicate that Syt-1 uses both Ca(2+)-dependent membrane insertion and SNARE binding to drive fusion pore expansion. ..
- Hershberger R, Parks S, Kushner J, Li D, Ludwigsen S, Jakobs P, et al. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2008;1:21-6 pubmed publisher..8%) and 18 of 183 with FDC (9.8%) Mutations of these six genes each account for a small fraction of the genetic cause of FDC/IDC. The frequency of possible or likely disease-causing mutations in these genes is similar for IDC and FDC. ..
- Fu J, Taubman M. Prolyl hydroxylase EGLN3 regulates skeletal myoblast differentiation through an NF-kappaB-dependent pathway. J Biol Chem. 2010;285:8927-35 pubmed publisher..This study demonstrates a novel role for EGLN3 in the regulation of NF-kappaB and suggests that it is involved in mediating myogenic differentiation, which is HIF-independent. ..
- Fritz J, Dwyer Nield L, Russell B, Malkinson A. The Kras mutational spectra of chemically induced lung tumors in different inbred mice mimics the spectra of KRAS mutations in adenocarcinomas in smokers versus nonsmokers. J Thorac Oncol. 2010;5:254-7 pubmed publisher..In a mouse model of human cancer, A/J and BALB/cBy mice treated with the tobacco carcinogen, 3-methylcholanthrene (MCA), followed by butylated hydroxytoluene (BHT)-elicited chronic inflammation develop a high multiplicity of lung tumors...
- Qiao J, Qiao X, Sun Y, Mindich L. Role of host protein glutaredoxin 3 in the control of transcription during bacteriophage Phi2954 infection. Proc Natl Acad Sci U S A. 2010;107:6000-4 pubmed publisher..The binding of GrxC to the particle results in changes in polymerase activity. Mutations resulting in independence of GrxC are found in the gene for protein P1, the major structural protein of the inner core particle...
- Chae K, Gonong B, Kim S, Kieslich C, Morikis D, Balasubramanian S, et al. A multifaceted study of stigma/style cysteine-rich adhesin (SCA)-like Arabidopsis lipid transfer proteins (LTPs) suggests diversified roles for these LTPs in plant growth and reproduction. J Exp Bot. 2010;61:4277-90 pubmed publisher..LTP6 was specifically expressed in the tip of the cotyledon under drought stress conditions. The results suggest that SCA-like Arabidopsis LTPs are multifunctional, with diversified roles in plant growth and reproduction. ..
- Weible A, Schwarcz L, Wickersham I, Deblander L, Wu H, Callaway E, et al. Transgenic targeting of recombinant rabies virus reveals monosynaptic connectivity of specific neurons. J Neurosci. 2010;30:16509-13 pubmed publisher..Such neuron-specific transgenic complementation of recombinant rabies virus holds great promise for obtaining cellular-resolution wiring diagrams of the mammalian CNS. ..
- Matakatsu H, Blair S. Separating planar cell polarity and Hippo pathway activities of the protocadherins Fat and Dachsous. Development. 2012;139:1498-508 pubmed publisher..We also found that the extracellular domain of Ft can act independently of the Ft ICD in PCP and can trigger dominant-negative and boundary effects on Hippo activity, probably via binding to the protocadherin Dachsous. ..
- Lubs H, Stevenson R, Schwartz C. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet. 2012;90:579-90 pubmed publisher..In large measure, this has been because of the relative ease of identifying families with XLID and finding the responsible mutations, as well as the determined and interactive efforts of a small group of researchers worldwide. ..
- Prakash A, Jayaram S, Bridge E. Differential activation of cellular DNA damage responses by replication-defective and replication-competent adenovirus mutants. J Virol. 2012;86:13324-33 pubmed publisher..We found that viral DNA replication is important for Nbs1 phosphorylation, suggesting that this step in the viral life cycle may provide an important trigger for activating at least some DNA repair proteins. ..
- Jin L, Craven R. The Rak/Frk tyrosine kinase associates with and internalizes the epidermal growth factor receptor. Oncogene. 2014;33:326-35 pubmed publisher..Taken together, the results suggest that Rak/Frk inhibits EGFR signaling in cancer cells and has elevated activity against EGFR exon 19 mutants. ..
- Shull A, Clendenning M, Ghoshal Gupta S, Farrell C, Vangapandu H, Dudas L, et al. Somatic mutations, allele loss, and DNA methylation of the Cub and Sushi Multiple Domains 1 (CSMD1) gene reveals association with early age of diagnosis in colorectal cancer patients. PLoS ONE. 2013;8:e58731 pubmed publisher..Deep amplicon sequencing and methylation-specific PCR reveal that CSMD1 alterations can correlate with earlier clinical presentation in colorectal tumors, thus further implicating CSMD1 as a tumor suppressor gene. ..
- Liu Y, Easton J, Shao Y, Maciaszek J, Wang Z, Wilkinson M, et al. The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia. Nat Genet. 2017;49:1211-1218 pubmed publisher..This genomic landscape provides a logical framework for the development of faithful genetic models and new therapeutic approaches. ..
- Cathcart E, Carreras I, Elliott Bryant R, Liang J, Gonnerman W, Sipe J. Polymorphism of acute-phase serum amyloid A isoforms and amyloid resistance in wild-type Mus musculus czech. Clin Immunol Immunopathol. 1996;81:22-6 pubmed..Our findings support the hypothesis that protection against amyloid fibril formation in wild-type M. musculus czech mice and their offspring is linked to apoSAA gene mutations (molecular motif). ..
- Timmers C, Taniguchi T, Hejna J, Reifsteck C, Lucas L, Bruun D, et al. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell. 2001;7:241-8 pubmed..thaliana, C. elegans, and Drosophila. Retroviral transduction of the cloned FANCD2 cDNA into FA-D2 cells resulted in functional complementation of MMC sensitivity. ..
- Qi J, Ebrahem Q, Yeow K, Edwards D, Fox P, Anand Apte B. Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis. J Biol Chem. 2002;277:13394-400 pubmed..These results also suggest the potential therapeutic use of TIMP-3 or synthetic MMP inhibitors in this disease. ..
- Zipper L, Mulcahy R. The Keap1 BTB/POZ dimerization function is required to sequester Nrf2 in cytoplasm. J Biol Chem. 2002;277:36544-52 pubmed..Furthermore, exposure to inducing agents disrupts the Keap1 dimerization function and results in Nrf2 release. ..
- Galliher A, Neil J, Schiemann W. Role of transforming growth factor-beta in cancer progression. Future Oncol. 2006;2:743-63 pubmed
- Feng Q, Deftereos G, Hawes S, Stern J, Willner J, Swisher E, et al. DNA hypermethylation, Her-2/neu overexpression and p53 mutations in ovarian carcinoma. Gynecol Oncol. 2008;111:320-9 pubmed publisher..DNA methylation of tumor suppressor genes is a frequent event in ovarian cancer, and in some cases is associated with Her-2/neu overexpression. Methylation of CABIN1 and RASSF1 may have the utility to predict response to therapy. ..
- Mamolen M, Smith A, Andrulis E. Drosophila melanogaster Dis3 N-terminal domains are required for ribonuclease activities, nuclear localization and exosome interactions. Nucleic Acids Res. 2010;38:5507-17 pubmed publisher..Taken together, our data suggest that the dDis3 N-terminus is a dynamic and complex hub for RNA metabolism and exosome interactions. ..
- Mendell J, Shilling C, Leslie N, Flanigan K, Al Dahhak R, Gastier Foster J, et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol. 2012;71:304-13 pubmed publisher..This path for newborn screening fits our health care system, minimizes false-positive testing, and uses predetermined levels of CK on dried blood spots to predict DMD gene mutations. ..
- Singh C, Watanabe R, Chowdhury W, Hiraishi H, Murai M, Yamamoto Y, et al. Sequential eukaryotic translation initiation factor 5 (eIF5) binding to the charged disordered segments of eIF4G and eIF2? stabilizes the 48S preinitiation complex and promotes its shift to the initiation mode. Mol Cell Biol. 2012;32:3978-89 pubmed publisher
- Jiang Z, Swem L, Rushing B, Devanathan S, Tollin G, Bauer C. Bacterial photoreceptor with similarity to photoactive yellow protein and plant phytochromes. Science. 1999;285:406-9 pubmed..Phylogenetic analysis demonstrates that R. centenum Ppr may be ancestral to cyanobacterial and plant phytochromes...
- Wang W, Margolin W, Molineux I. Increased synthesis of an Escherichia coli membrane protein suppresses F exclusion of bacteriophage T7. J Mol Biol. 1999;292:501-12 pubmed..The FxsA protein is shown to be a cytoplasmic membrane protein. How T7 avoids exclusion by F in cells that exhibit increased levels of FxsA is discussed in terms of its membrane localization. ..
- Bai Y, Hajek P, Chomyn A, Chan E, Seo B, Matsuno Yagi A, et al. Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene. J Biol Chem. 2001;276:38808-13 pubmed..The present observations substantially expand the potential of the yeast NDI1 gene for the therapy of mitochondrial diseases involving complex I deficiency. ..
- Thompson M, Govindaswami M, Hersh L. Mutation of active site residues of the puromycin-sensitive aminopeptidase: conversion of the enzyme into a catalytically inactive binding protein. Arch Biochem Biophys. 2003;413:236-42 pubmed..The effect of mutating tyrosine 394 is consistent with involvement of this residue in transition state stabilization. ..
- Ybe J, Ruppel N, Mishra S, VanHaaften E. Contribution of cysteines to clathrin trimerization domain stability and mapping of light chain binding. Traffic. 2003;4:850-6 pubmed..EMBO J 2002; 21: 6072-6082; Pishvaee B, Munn A, Payne GS. EMBO J 1997; 16: 2227-2239). ..
- Dubeykovskiy A, McWhinney C, Robishaw J. Runx-dependent regulation of G-protein gamma3 expression in T-cells. Cell Immunol. 2006;240:86-95 pubmed..Overall, these data provide the first genetic evidence for the tight regulation and involvement of the G protein gamma3-subtype in mounting an effective immune response in mice. ..
- Lietman S, Goldfarb J, Desai N, Levine M. Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy. J Clin Endocrinol Metab. 2008;93:901-4 pubmed..We describe herein a proband with AHO and severe skeletal deformities (including phocomelia) related to a novel GNAS mutation and the delivery of a male infant with homozygous normal GNAS genotype after PGD. ..
- Wang J, Jacob N, Ladner K, Beg A, Perko J, Tanner S, et al. RelA/p65 functions to maintain cellular senescence by regulating genomic stability and DNA repair. EMBO Rep. 2009;10:1272-8 pubmed publisher..Altogether, our findings present a fresh perspective on the role of NF-kappaB as a tumour suppressor, which acts in pre-neoplastic cells to maintain cellular senescence by promoting DNA repair and genomic stability. ..
- Fathallah Shaykh H, Bona J, Kadener S. Mathematical model of the Drosophila circadian clock: loop regulation and transcriptional integration. Biophys J. 2009;97:2399-408 pubmed publisher..Loop regulation and integration of opposite transcriptional signals appear to be central mechanisms as they also explain paradoxical effects of period gain-of-function and null mutations. ..
- Horbinski C, Kofler J, Kelly L, Murdoch G, Nikiforova M. Diagnostic use of IDH1/2 mutation analysis in routine clinical testing of formalin-fixed, paraffin-embedded glioma tissues. J Neuropathol Exp Neurol. 2009;68:1319-25 pubmed publisher..These results indicate that testing for IDH1/2 mutations can be effectively performed in a clinical setting and can enhance the accuracy of diagnosis of gliomas when traditional diagnostic methods are not definitive. ..
- Li X, Johnson R, Park D, Chin Sang I, Chamberlin H. Somatic gonad sheath cells and Eph receptor signaling promote germ-cell death in C. elegans. Cell Death Differ. 2012;19:1080-9 pubmed publisher..This work defines a non-autonomous, pro-apoptotic signaling for efficient physiological cell death, and highlights the dynamic nature of intercellular communication between dying cells and the phagocytes that remove them...
- Verma S, Idnurm A. The Uve1 endonuclease is regulated by the white collar complex to protect cryptococcus neoformans from UV damage. PLoS Genet. 2013;9:e1003769 pubmed publisher..Thus, in C. neoformans UVE1 is a key gene regulated in response to light that is responsible for tolerance to UV stress for protection of the mitochondrial genome. ..
- Barefield D, Kumar M, de Tombe P, Sadayappan S. Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol. 2014;306:H807-15 pubmed publisher..43) and E'/A' (+/t 1.18 ± 0.05 vs. +/+ 1.52 ± 0.15) ratios, indicating diastolic dysfunction. These results suggest that seemingly asymptomatic heterozygous MYBPC3 carriers do suffer impairments that may presage the onset of HCM. ..
- Kotsopoulos J, Huzarski T, Gronwald J, Moller P, Lynch H, Neuhausen S, et al. Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study. Breast Cancer Res Treat. 2016;155:365-73 pubmed publisher..These findings suggest that a short course of HRT should not be contra-indicated for BRCA1 mutation carriers who have undergone menopause and who have no personal history of cancer. ..
- Prudovsky I, Kacer D, Davis J, Shah V, Jayanthi S, Huber I, et al. Folding of Fibroblast Growth Factor 1 Is Critical for Its Nonclassical Release. Biochemistry. 2016;55:1159-67 pubmed publisher..Thus, folding of FGF1 is critical for its nonclassical secretion. ..
- Swank R, Sweet H, Davisson M, Reddington M, Novak E. Sandy: a new mouse model for platelet storage pool deficiency. Genet Res. 1991;58:51-62 pubmed..It represents the tenth example of a mouse mutant with simultaneous defects in melanosomes, lysosomes and/or platelet dense granules. ..
- Stark W, Schilly D, Christianson J, Bone R, Landrum J. Photoreceptor-specific efficiencies of beta-carotene, zeaxanthin and lutein for photopigment formation deduced from receptor mutant Drosophila melanogaster. J Comp Physiol A. 1990;166:429-36 pubmed..Hence, without R1-6, most of our dose range mediated maximal visual pigment formation. In Drosophila, beta-carotene, zeaxanthin and lutein mediate the formation of all major photopigments in R1-6, R7 and R8. ..
- Engels W, Johnson Schlitz D, Eggleston W, Sved J. High-frequency P element loss in Drosophila is homolog dependent. Cell. 1990;62:515-25 pubmed..The results also suggest a technique for site-directed mutagenesis in Drosophila. ..
- Walkowicz M, Ji Y, Ren X, Horsthemke B, Russell L, Johnson D, et al. Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice. Mamm Genome. 1999;10:870-8 pubmed..These data provide new molecular clues regarding the wide range of jdf2 and p phenotypes that are expressed by this collection of recently generated and classical p-region mutations. ..
- Littleton J, Bai J, Vyas B, Desai R, Baltus A, Garment M, et al. synaptotagmin mutants reveal essential functions for the C2B domain in Ca2+-triggered fusion and recycling of synaptic vesicles in vivo. J Neurosci. 2001;21:1421-33 pubmed..These data suggest that Ca(2+)-driven oligomerization via the C2B domain of synaptotagmin may trigger synaptic vesicle fusion via the assembly and clustering of SNARE complexes. ..
- Barton J, Acton R. Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. Genet Med. 2001;3:294-300 pubmed..Penetrance-adjusted estimates indicate that approximately 9 African Americans per 100,000 have a hemochromatosis phenotype and two common HFE mutations. Hemochromatosis-associated genotype frequencies varied 11.7-fold across regions. ..
- Graham T, Ferkey D, Mao F, Kimelman D, Xu W. Tcf4 can specifically recognize beta-catenin using alternative conformations. Nat Struct Biol. 2001;8:1048-52 pubmed..We propose that this interaction may be the first event in beta-catenin-Tcf4 recognition. ..
- Cameron P, Liu C, Smart D, Hantus S, Fick J, Cameron R. Caveolin-1 expression is maintained in rat and human astroglioma cell lines. Glia. 2002;37:275-90 pubmed
- Dougherty M, Downs D. The stm4066 gene product of Salmonella enterica serovar Typhimurium has aminoimidazole riboside (AIRs) kinase activity and allows AIRs to satisfy the thiamine requirement of pur mutant strains. J Bacteriol. 2003;185:332-9 pubmed..This mutation provides a genetic means to isolate the synthesis of the hydroxymethyl pyrimidine moiety of thiamine from the pathway for purine mononucleotide biosynthesis and thus facilitate in vivo analyses. ..
- DeMason D. Auxin-cytokinin and auxin-gibberellin interactions during morphogenesis of the compound leaves of pea (Pisum sativum). Planta. 2005;222:151-66 pubmed..These results show that both auxin and GA play similar and significant roles in pea leaf development. Pea leaf morphogenesis might involve auxin regulation of GA biosynthesis and GA regulation of Uni expression. ..
- Wu R, Ma C, Hou W, Corva P, Medrano J. Functional mapping of quantitative trait loci that interact with the hg mutation to regulate growth trajectories in mice. Genetics. 2005;171:239-49 pubmed..Our model provides a powerful means for understanding the genetic architecture and regulation of growth rate and body size in mammals. ..
- Chen S, Paterson G, Tong H, Mitchell T, DeMaria T. Sortase A contributes to pneumococcal nasopharyngeal colonization in the chinchilla model. FEMS Microbiol Lett. 2005;253:151-4 pubmed..Our data indicate that SrtA contributes to pneumococcal NP colonization in this animal model...
- McConnell K, Müller P, Fox C. Tolerance of Sir1p/origin recognition complex-dependent silencing for enhanced origin firing at HMRa. Mol Cell Biol. 2006;26:1955-66 pubmed..However, although the robust origin/silencer fusions silenced HMRa quite well, they were measurably less effective than a comparable silencer containing HMR-E's native ORC binding site. ..
- Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton D, et al. Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. Invest Ophthalmol Vis Sci. 2006;47:1274-80 pubmed..Also studied were two siblings who were homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment...
- Zheng Q, Yu H, Washington J, Kisley L, Kikkawa Y, Pawlowski K, et al. A new spontaneous mutation in the mouse protocadherin 15 gene. Hear Res. 2006;219:110-20 pubmed..Since these animals show severe functional deficits but have relatively mild stereocilia defects at a young age they may provide an appropriate model to test for a direct role of Pcdh15 in mechanotransduction. ..
- Petreaca R, Chiu H, Nugent C. The role of Stn1p in Saccharomyces cerevisiae telomere capping can be separated from its interaction with Cdc13p. Genetics. 2007;177:1459-74 pubmed..Thus, an amino-terminal region of Stn1p is sufficient for its essential function, while a central region of Stn1p either negatively regulates the STN1 essential function or destabilizes the mutant Stn1 protein. ..
- Joshi Mukherjee R, Coombs W, Musa H, Oxford E, Taffet S, Delmar M. Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations. Heart Rhythm. 2008;5:1715-23 pubmed publisher..These results provide the first observations of the cellular/molecular phenotype consequent to these PKP2 mutations and give insight into the possible cellular substrates that lead to ARVC. ..
- Tang Y, Scheef E, Gurel Z, Sorenson C, Jefcoate C, Sheibani N. CYP1B1 and endothelial nitric oxide synthase combine to sustain proangiogenic functions of endothelial cells under hyperoxic stress. Am J Physiol Cell Physiol. 2010;298:C665-78 pubmed publisher..Thus CYP1B1 and eNOS cooperate in different ways to lower oxidative stress and thereby to promote CM in vitro and angiogenesis in vivo. ..
- Luo B, Repalli J, Yousef A, Johnson S, Lebioda L, Berger S. Human thymidylate synthase with loop 181-197 stabilized in an inactive conformation: ligand interactions, phosphorylation, and inhibition profiles. Protein Sci. 2011;20:87-94 pubmed publisher..Importantly, phosphorylation of hTS by CK2 is selective for the inactive conformation, providing the first indication of physiological relevance for conformational switching. ..
- Barnes J, Lim J, Godard A, Blanchard F, Wells L, Steet R. Extensive mannose phosphorylation on leukemia inhibitory factor (LIF) controls its extracellular levels by multiple mechanisms. J Biol Chem. 2011;286:24855-64 pubmed publisher..Failure to modify LIF in the context of mucolipidosis II and its subsequent accumulation in the extracellular space may have important implications for disease pathogenesis. ..
- Park G, Servin J, Turner G, Altamirano L, Colot H, Collopy P, et al. Global analysis of serine-threonine protein kinase genes in Neurospora crassa. Eukaryot Cell. 2011;10:1553-64 pubmed publisher..Finally, we demonstrated allelism between the S/T kinase gene NCU00406 and velvet (vel), encoding a p21-activated protein kinase (PAK) gene important for asexual and sexual growth and development in Neurospora...
- Lashinger L, Harrison L, Rasmussen A, Logsdon C, Fischer S, McArthur M, et al. Dietary energy balance modulation of Kras- and Ink4a/Arf+/--driven pancreatic cancer: the role of insulin-like growth factor-I. Cancer Prev Res (Phila). 2013;6:1046-55 pubmed publisher..Furthermore, IGF-I and components of its downstream signaling pathway are promising mechanistic targets for breaking the obesity-pancreatic cancer link. ..
- Gai X, Ghezzi D, Johnson M, Biagosch C, Shamseldin H, Haack T, et al. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013;93:482-95 pubmed publisher..These data strongly support a role for FBXL4 in controlling bioenergetic homeostasis and mtDNA maintenance. FBXL4 mutations are a recurrent cause of mitochondrial encephalomyopathy onset in early infancy. ..
- Clopath C, Badura A, De Zeeuw C, Brunel N. A cerebellar learning model of vestibulo-ocular reflex adaptation in wild-type and mutant mice. J Neurosci. 2014;34:7203-15 pubmed publisher..The detailed model reproduces both the behavioral and electrophysiological data of both the wild-type and mutant mice and allows for experimentally testable predictions. ..
- Iacobucci I, Li Y, Roberts K, Dobson S, Kim J, Payne Turner D, et al. Truncating Erythropoietin Receptor Rearrangements in Acute Lymphoblastic Leukemia. Cancer Cell. 2016;29:186-200 pubmed publisher..Expression of truncated EPOR in mouse B cell progenitors induced ALL inÂ vivo. Human leukemic cells with EPOR rearrangements were sensitive to JAK-STAT inhibition, suggesting a therapeutic option in high-risk ALL. ..
- Reynolds J, Bicknell L, Carroll P, Higgs M, Shaheen R, Murray J, et al. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet. 2017;49:537-549 pubmed publisher..In summary, we have identified mutations in DONSON as a common cause of microcephalic dwarfism and established DONSON as a critical replication fork protein required for mammalian DNA replication and genome stability. ..
- Baker S, Plug A, Prolla T, Bronner C, Harris A, Yao X, et al. Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over. Nat Genet. 1996;13:336-42 pubmed..We also show that Mlh1 appears to localize to sites of crossing over on meiotic chromosomes. Together these findings suggest that Mlh1 is involved in DNA mismatch repair and meiotic crossing over. ..
- Wang W, Lee S, Steiglitz B, Scott I, Lebares C, Allen M, et al. Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase. J Biol Chem. 2003;278:19549-57 pubmed
- Lam M, Nadeau J. Genetic control of susceptibility to spontaneous testicular germ cell tumors in mice. APMIS. 2003;111:184-90; discussion 191 pubmed..Bilateral TGCTs result from the coincidental occurrence of unilateral tumors. These results highlight the important contributions that this mouse model can make to studies of TGCT susceptibility in humans. ..
- Lucas M, Ma Q, Cunningham D, Peters J, Cattanach B, Bard M, et al. Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast. Mol Genet Metab. 2003;80:227-33 pubmed..Using this in vivo assay, we have demonstrated that two Str alleles function as hypomorphs, while three Bpa and one Str allele provide no complementation or rescue. ..
- Xin M, Gao F, May W, Flagg T, Deng X. Protein kinase Czeta abrogates the proapoptotic function of Bax through phosphorylation. J Biol Chem. 2007;282:21268-77 pubmed..Thus, PKCzeta may function as a physiological Bax kinase to directly phosphorylate and interact with Bax, which leads to sequestration of Bax in cytoplasm and abrogation of the proapoptotic function of Bax. ..
- Hazbón M, Motiwala A, Cavatore M, Brimacombe M, Whittam T, Alland D. Convergent evolutionary analysis identifies significant mutations in drug resistance targets of Mycobacterium tuberculosis. Antimicrob Agents Chemother. 2008;52:3369-76 pubmed publisher..This approach may be applied on a genome-wide scale to identify SNPs that impact antibiotic resistance and other types of biological fitness. ..
- van Kessel J, Rutherford S, Shao Y, Utria A, Bassler B. Individual and combined roles of the master regulators AphA and LuxR in control of the Vibrio harveyi quorum-sensing regulon. J Bacteriol. 2013;195:436-43 pubmed publisher..Thus, the asymmetric production of AphA and LuxR coupled with differences in their strengths and timing of target gene regulation generate a precise temporal pattern of gene expression...
- Mallipatna A, Marino M, Singh A. Genetics of Retinoblastoma. Asia Pac J Ophthalmol (Phila). 2016;5:260-4 pubmed publisher..In this article, we discuss the clinically relevant aspects of genetic testing and genetic counseling for a child with retinoblastoma. ..
- Russell L, Hunsicker P, Johnson D, Shelby M. Unlike other chemicals, etoposide (a topoisomerase-II inhibitor) produces peak mutagenicity in primary spermatocytes of the mouse. Mutat Res. 1998;400:279-86 pubmed
- Kuhnert W, Quivey R. Genetic and biochemical characterization of the F-ATPase operon from Streptococcus sanguis 10904. J Bacteriol. 2003;185:1525-33 pubmed..Hybrid enzymes were found to be relatively insensitive to inhibition by dicyclohexylcarbodiimide, indicating loss of productive coupling between the membrane and catalytic subunits. ..
- Miedlich S, Gama L, Seuwen K, Wolf R, Breitwieser G. Homology modeling of the transmembrane domain of the human calcium sensing receptor and localization of an allosteric binding site. J Biol Chem. 2004;279:7254-63 pubmed
- Whitley J, Parsons J, Freeman J, Liu Y, Edwards R, Near J. Electrochemical monitoring of transport by a vesicular monoamine transporter expressed in Xenopus oocytes. J Neurosci Methods. 2004;133:191-9 pubmed..These results suggest that expression of VMATs in oocytes may provide a useful model system for mechanistic and regulatory studies that would not be feasible using traditional methods. ..
- Han X, Wang C, Bai J, Chapman E, Jackson M. Transmembrane segments of syntaxin line the fusion pore of Ca2+-triggered exocytosis. Science. 2004;304:289-92 pubmed..The residues that influenced fusion-pore flux lay along one face of an alpha-helical model. Thus, the fusion pore is formed at least in part by a circular arrangement of 5 to 8 Syx transmembrane segments in the plasma membrane. ..