Experts and Doctors on phenotype in Iowa City, Iowa, United States

Summary

Locale: Iowa City, Iowa, United States
Topic: phenotype

Top Publications

  1. Parnell T, Viering M, Skjesol A, Helou C, Kuhn E, Geyer P. An endogenous suppressor of hairy-wing insulator separates regulatory domains in Drosophila. Proc Natl Acad Sci U S A. 2003;100:13436-41 pubmed
    ..Based on these data, we suggest that 1A-2 is an endogenous Su(Hw) insulator that separates regulatory domains within the Drosophila genome. ..
  2. Spinks R, Sandhu H, Andreasen N, Philibert R. Association of the HOPA12bp allele with a large X-chromosome haplotype and positive symptom schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2004;127B:20-7 pubmed
  3. Kochhar A, Orten D, Sorensen J, Fischer S, Cremers C, Kimberling W, et al. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. Hum Mutat. 2008;29:565 pubmed publisher
    ..Seven of the eight known SIX1 mutations are missense and the one in frame deletion is predicted to be functionally similar. The wide phenotypic variability precludes making genotype-phenotype correlations at this time. ..
  4. Sabharwal R, Cicha M, Sinisterra R, de Sousa F, Santos R, Chapleau M. Chronic oral administration of Ang-(1-7) improves skeletal muscle, autonomic and locomotor phenotypes in muscular dystrophy. Clin Sci (Lond). 2014;127:101-9 pubmed publisher
    ..Our results suggest that correcting the early autonomic dysregulation by administering Ang-(1-7) or enhancing its endogenous production may provide a novel therapeutic approach in muscular dystrophy. ..
  5. Campbell D, Schoenwald R, Duffel M, Barfknecht C. Characterization of arylamine acetyltransferase in the rabbit eye. Invest Ophthalmol Vis Sci. 1991;32:2190-200 pubmed
    ..There are significant amounts of acetyltransferase activity in the ocular tissues of the rabbit with these three substrates, indicating that acetylation may be occurring for other arylamine drugs used in the eye. ..
  6. Cryderman D, Morris E, Biessmann H, Elgin S, Wallrath L. Silencing at Drosophila telomeres: nuclear organization and chromatin structure play critical roles. EMBO J. 1999;18:3724-35 pubmed
    ..Corresponding changes in the chromatin structure and inducible activity of an associated hsp26 transgene are observed. The data indicate that both nuclear organization and local chromatin structure play a role in this telomeric PEV. ..
  7. Wang J, Soll D, Wu C. Morphometric description of the wandering behavior in Drosophila larvae: a phenotypic analysis of K+ channel mutants. J Neurogenet. 2002;16:45-63 pubmed
    ..The synergistic effects of double and triple K+ channel mutations on these parameters of locomotion suggest that each K+ channel subunit contributes in a specific manner to the efficiency of locomotion. ..
  8. Lewis A, Ough M, Hinkhouse M, Tsao M, Oberley L, Cullen J. Targeting NAD(P)H:quinone oxidoreductase (NQO1) in pancreatic cancer. Mol Carcinog. 2005;43:215-24 pubmed
    ..The effects of streptonigrin were reversed in pancreatic cancer cells pretreated with dicumarol, a known inhibitor of NQO1. NQO1 may be a therapeutic target in pancreatic cancer where survival is measured in months. ..
  9. Ren J, Pashkova N, Winistorfer S, Piper R. DOA1/UFD3 plays a role in sorting ubiquitinated membrane proteins into multivesicular bodies. J Biol Chem. 2008;283:21599-611 pubmed publisher
    ..These results reveal novel roles for Doa1 in helping to process ubiquitinated membrane proteins for sorting into MVBs. ..

More Information

Publications192 found, 100 shown here

  1. Nakano Y, Jahan I, Bonde G, Sun X, Hildebrand M, Engelhardt J, et al. A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. PLoS Genet. 2012;8:e1002966 pubmed publisher
    ..Srrm4 is the first alternative-splicing regulator to be associated with hearing, and the analysis of bv mice provides exon-level insights into hair-cell development. ..
  2. Leslie E, Mancuso J, Schutte B, Cooper M, Durda K, L heureux J, et al. Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Am J Med Genet A. 2013;161A:2535-2544 pubmed publisher
    ..We also show that families with the Van de Woude phenotype but in whom no mutations have been identified have a lower frequency of cleft lip, suggesting there may be locus and/or mutation class differences in Van de Woude syndrome. ..
  3. Peyvandi F, Rossio R, Ferrari B, Lotta L, Pontiggia S, Ghiringhelli Borsa N, et al. Thrombotic microangiopathy without renal involvement: two novel mutations in complement-regulator genes. J Thromb Haemost. 2016;14:340-5 pubmed publisher
  4. Ma M, Pettus J, Jakoubek J, Traxler M, Clark K, Mennie A, et al. Contribution of independent and pleiotropic genetic effects in the metabolic syndrome in a hypertensive rat. PLoS ONE. 2017;12:e0182650 pubmed publisher
    ..Genes in these haplotypes are strong candidate genes for causing dyslipidemia in the LH rat. Overall, MetS, even in a simplified genetic model such as the LH-17LN rat, is likely due to both independent and pleiotropic gene effects. ..
  5. Langille R, Solursh M. Formation of chondrous and osseous tissues in micromass cultures of rat frontonasal and mandibular ectomesenchyme. Differentiation. 1990;44:197-206 pubmed
  6. Roseman R, Swan J, Geyer P. A Drosophila insulator protein facilitates dosage compensation of the X chromosome min-white gene located at autosomal insertion sites. Development. 1995;121:3573-82 pubmed
    ..This may result from protection of the mini-white gene from a negative autosomal chromatin environment. ..
  7. Straub V, Campbell K. Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol. 1997;10:168-75 pubmed
  8. McCarter L. OpaR, a homolog of Vibrio harveyi LuxR, controls opacity of Vibrio parahaemolyticus. J Bacteriol. 1998;180:3166-73 pubmed
    ..The underlying genetic basis for opaque-translucent variation may be the consequence of a genomic alteration detected in the opaR locus of opaque and translucent strains. ..
  9. Renger J, Ueda A, Atwood H, Govind C, Wu C. Role of cAMP cascade in synaptic stability and plasticity: ultrastructural and physiological analyses of individual synaptic boutons in Drosophila memory mutants. J Neurosci. 2000;20:3980-92 pubmed
  10. Harvey H, Post D, Apicella M. Immortalization of human urethral epithelial cells: a model for the study of the pathogenesis of and the inflammatory cytokine response to Neisseria gonorrhoeae infection. Infect Immun. 2002;70:5808-15 pubmed
    ..Cells challenged with a gonococcal lipid A msbB mutant produced reduced IL-6 and IL-8 levels when compared to the parent strain. Additionally, these data suggest that the 1291 msbB lipooligosaccharide may suppress cytokine induction. ..
  11. Azaiez H, Chamberlin G, Fischer S, Welp C, Prasad S, Taggart R, et al. GJB2: the spectrum of deafness-causing allele variants and their phenotype. Hum Mutat. 2004;24:305-11 pubmed
    ..35delG carrier frequency in normal-hearing controls (P < 0.05), suggesting the existence of at least one other mutation outside the GJB2 coding region that does not complement GJB2 deafness-causing allele variants. ..
  12. Anderson M, Hawes N, Trantow C, Chang B, John S. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res. 2008;21:565-78 pubmed publisher
    ..Combined, these findings illustrate the utility of studying iris phenotypes as a means of discovering new pathways, and re-linking old ones, to processes of pigmented cells in health and disease. ..
  13. Haring S, Humphreys T, Wold M. A naturally occurring human RPA subunit homolog does not support DNA replication or cell-cycle progression. Nucleic Acids Res. 2010;38:846-58 pubmed publisher
    ..These studies suggest that RPA4 cannot support cell proliferation but can support processes that maintain the genomic integrity of the cell. ..
  14. Zhou X, Yu S, Zhao D, Harty J, Badovinac V, Xue H. Differentiation and persistence of memory CD8(+) T cells depend on T cell factor 1. Immunity. 2010;33:229-40 pubmed publisher
    ..Our studies thus identify TCF-1 as a critical player in a transcriptional program that regulates memory CD8 differentiation and longevity. ..
  15. Mulford K, Fassler J. Association of the Skn7 and Yap1 transcription factors in the Saccharomyces cerevisiae oxidative stress response. Eukaryot Cell. 2011;10:761-9 pubmed publisher
    ..The interaction with Yap1p may help partition the Skn7 protein to oxidative stress response promoters when the Yap1 protein accumulates in the nucleus. ..
  16. Fisher J, Zhang Y, Engelhardt J. Comparative biology of cystic fibrosis animal models. Methods Mol Biol. 2011;742:311-34 pubmed publisher
    ..These cross-species comparisons and the development of both the pig and the ferret CF models may help elucidate pathophysiologic mechanisms of CF lung disease and lead to new therapeutic approaches...
  17. Nolz J, Harty J. Protective capacity of memory CD8+ T cells is dictated by antigen exposure history and nature of the infection. Immunity. 2011;34:781-93 pubmed publisher
    ..Thus, repeated antigen stimulation shapes memory CD8+ T cell populations to either enhance or decrease per cell protective immunity in a pathogen-specific manner, a concept of importance in vaccine design against specific diseases...
  18. Mukohda M, Stump M, Ketsawatsomkron P, Hu C, Quelle F, Sigmund C. Endothelial PPAR-γ provides vascular protection from IL-1β-induced oxidative stress. Am J Physiol Heart Circ Physiol. 2016;310:H39-48 pubmed publisher
    ..We conclude that PPAR-γ protects against IL-1β-mediated endothelial dysfunction through a reduction of oxidative stress responses but not by blunting IL-1β-mediated NF-κB activity. ..
  19. Whitman M, Andrews C, Chan W, Tischfield M, Stasheff S, Brancati F, et al. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016;170A:297-305 pubmed publisher
    ..These new TUBB3 substitutions meld the two previously distinct TUBB3-associated phenotypes, and implicate similar microtubule dysfunction underlying both. ..
  20. Boghossian N, Sicko R, Kay D, Rigler S, Caggana M, Tsai M, et al. Rare copy number variants implicated in posterior urethral valves. Am J Med Genet A. 2016;170:622-33 pubmed publisher
    ..Our data show a potential role of CNVs in up to 57% of cases examined. Investigation of genes in these CNVs may provide further insights into genetic variants that contribute to PUV. ..
  21. Agassandian K, Grobe J, Liu X, Agassandian M, Thompson A, Sigmund C, et al. Evidence for intraventricular secretion of angiotensinogen and angiotensin by the subfornical organ using transgenic mice. Am J Physiol Regul Integr Comp Physiol. 2017;312:R973-R981 pubmed publisher
  22. Lansdon L, Bernabe H, Nidey N, Standley J, Schnieders M, Murray J. The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1. J Dent Res. 2017;96:1339-1345 pubmed publisher
    ..It is our hope that the use of phenotypic maps such as these will further the understanding of genetic disease in general and diseases caused by variation in FGFR1 specifically. ..
  23. Hinson S, Nagoshi R. Regulatory and functional interactions between the somatic sex regulatory gene transformer and the germline genes ovo and ovarian tumor. Development. 1999;126:861-71 pubmed
  24. Luo J, Lubaroff D, Hendrix M. Suppression of prostate cancer invasive potential and matrix metalloproteinase activity by E-cadherin transfection. Cancer Res. 1999;59:3552-6 pubmed
    ..Moreover, the data shed additional light on the possible mechanisms involved in E-cadherin-dependent modulation of invasion. ..
  25. Yao W, Rusch J, Poo M, Wu C. Spontaneous acetylcholine secretion from developing growth cones of Drosophila central neurons in culture: effects of cAMP-pathway mutations. J Neurosci. 2000;20:2626-37 pubmed
  26. Brooks A, Stein C, Hughes S, Heth J, McCray P, Sauter S, et al. Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors. Proc Natl Acad Sci U S A. 2002;99:6216-21 pubmed
    ..These data suggest that enzyme replacement to the MPS VII central nervous system goes beyond restoration of beta-glucuronidase activity in the lysosome, and imparts improvements in plasticity and spatial learning...
  27. Westfall T, Brimeyer R, Twedt J, Gladon J, Olberding A, Furutani Seiki M, et al. Wnt-5/pipetail functions in vertebrate axis formation as a negative regulator of Wnt/beta-catenin activity. J Cell Biol. 2003;162:889-98 pubmed
    ..The Wnt-5 loss-of-function defect is consistent with Ca2+ modulation having an antagonistic interaction with Wnt/beta-catenin signaling. ..
  28. Cornell R, Yemm E, Bonde G, Li W, d Alençon C, Wegman L, et al. Touchtone promotes survival of embryonic melanophores in zebrafish. Mech Dev. 2004;121:1365-76 pubmed
    ..Thus, we have identified a zebrafish gene that when mutated produces semi-viable offspring and that may serve as a model of human diseases that have both pigmentation and neurological symptoms...
  29. 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). ..
  30. Trantow C, Cuffy T, Fingert J, Kuehn M, Anderson M. Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. Invest Ophthalmol Vis Sci. 2011;52:237-48 pubmed publisher
    ..These findings have several biologically relevant implications, particularly with respect to secondary forms of glaucoma, and represent a useful resource as a hypothesis-generating dataset. ..
  31. Giri L, Li H, Sandgren D, FEISS M, Roller R, Bonning B, et al. Removal of transposon target sites from the Autographa californica multiple nucleopolyhedrovirus fp25k gene delays, but does not prevent, accumulation of the few polyhedra phenotype. J Gen Virol. 2010;91:3053-64 pubmed publisher
    ..Thus, the FP phenotype appeared in spite of continued FP25K protein synthesis, suggesting that mechanisms other than fp25k gene disruption can lead to the FP phenotype...
  32. Teoh Fitzgerald M, Fitzgerald M, Jensen T, Futscher B, Domann F. Genetic and epigenetic inactivation of extracellular superoxide dismutase promotes an invasive phenotype in human lung cancer by disrupting ECM homeostasis. Mol Cancer Res. 2012;10:40-51 pubmed publisher
  33. Dayal S, Chauhan A, Jensen M, Leo L, Lynch C, Faraci F, et al. Paradoxical absence of a prothrombotic phenotype in a mouse model of severe hyperhomocysteinemia. Blood. 2012;119:3176-83 pubmed publisher
    ..These findings may provide insights into the failure of homocysteine-lowering trials in secondary prevention from thrombotic vascular events. ..
  34. Muradov H, Boyd K, Kerov V, Artemyev N. Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing. Vision Res. 2012;57:1-8 pubmed publisher
    ..Thus, retinal degeneration in atrd3 mice is caused by low levels of PDE6 protein due to defective processing of PDE6B pre-mRNA rather than by deleterious effects of the N605S mutation on PDE6 folding, stability or function. ..
  35. Hohl A, Thompson M, Soshnev A, Wu J, Morris J, Hsieh T, et al. Restoration of topoisomerase 2 function by complementation of defective monomers in Drosophila. Genetics. 2012;192:843-56 pubmed publisher
    ..Our studies establish the first series of Top2 alleles in a multicellular organism. Future analyses of these alleles will enhance our knowledge about the contributions made by type II topoisomerases to development. ..
  36. Bream E, Leppellere C, Cooper M, Dagle J, Merrill D, Christensen K, et al. Candidate gene linkage approach to identify DNA variants that predispose to preterm birth. Pediatr Res. 2013;73:135-41 pubmed publisher
    ..These findings suggest the involvement of six genes acting through the infant and/or the mother in the etiology of PTB. ..
  37. Peloso G, Auer P, Bis J, Voorman A, Morrison A, Stitziel N, et al. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014;94:223-32 pubmed publisher
    ..None of these four variants was associated with risk for CHD, suggesting that examples of low-frequency coding variants with robust effects on both lipids and CHD will be limited. ..
  38. Ries R, Yu W, Holton N, Cao H, Amendt B. Inhibition of the miR-17-92 Cluster Separates Stages of Palatogenesis. J Dent Res. 2017;96:1257-1264 pubmed publisher
    ..The differential regulation of palatogenesis by members of the miR-17-92 cluster indicates that several gene combinations regulate palate elevation and extension during development. ..
  39. Ferguson P, Chen S, Tayeh M, Ochoa L, Leal S, Pelet A, et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005;42:551-7 pubmed
  40. Paulsen J, Nopoulos P, Aylward E, Ross C, Johnson H, Magnotta V, et al. Striatal and white matter predictors of estimated diagnosis for Huntington disease. Brain Res Bull. 2010;82:201-7 pubmed publisher
  41. Svensson R, Haverkamp J, Thedens D, Cohen M, Ratliff T, Henry M. Slow disease progression in a C57BL/6 pten-deficient mouse model of prostate cancer. Am J Pathol. 2011;179:502-12 pubmed publisher
    ..This model provides a platform for noninvasive assessment of how genetic and environmental risk factors may affect disease progression. ..
  42. Gardiner J, Bullard S, Chrome C, Malone R. Molecular and genetic analysis of REC103, an early meiotic recombination gene in yeast. Genetics. 1997;146:1265-74 pubmed
    ..REC103 has 26% amino acid identity to the Schizasaccharomyces pombe rec14+ gene; mutations in both genes confer similar meiotic phenotypes, suggesting that they may play similar roles in meiotic recombination. ..
  43. Urbanowski M, Stauffer L, Stauffer G. The gcvB gene encodes a small untranslated RNA involved in expression of the dipeptide and oligopeptide transport systems in Escherichia coli. Mol Microbiol. 2000;37:856-68 pubmed
    ..Although the mechanism(s) involving gcvB in the repression of these two genes is not known, oppA regulation appears to be at the translational level, whereas dppA regulation occurs at the mRNA level. ..
  44. Karniski L. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 2001;10:1485-90 pubmed
  45. Alward W, Kwon Y, Khanna C, Johnson A, Hayreh S, Zimmerman M, et al. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol. 2002;120:1189-97 pubmed
    ..mt1 promoter polymorphism were no different from those with the more common variant in any measure of disease severity. Testing for the MYOC.mt1 promoter polymorphism appears to be of no value in the evaluation of patients with glaucoma. ..
  46. Chang E, Menezes M, Meyer N, Cucci R, Vervoort V, Schwartz C, et al. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 2004;23:582-9 pubmed
    ..We conclude that genetic testing of EYA1 should include analysis of the coding sequence and a screen for complex rearrangements. ..
  47. Jiang Y, Price D. Rescue of the TTF2 knockdown phenotype with an siRNA-resistant replacement vector. Cell Cycle. 2004;3:1151-3 pubmed
    ..Importantly, the mitotic phenotype seen with TTF2-siRNA is rescued by expression of the siRNA-resistant GFP-tagged TTF2 proving that reduced TTF2 is responsible for the retention of RNA polymerase II on mitotic chromosomes. ..
  48. Kim Y, McCarter L. ScrG, a GGDEF-EAL protein, participates in regulating swarming and sticking in Vibrio parahaemolyticus. J Bacteriol. 2007;189:4094-107 pubmed publisher
  49. Black D, Gaffney G. Subclinical obsessive-compulsive disorder in children and adolescents: additional results from a "high-risk" study. CNS Spectr. 2008;13:54-61 pubmed
    ..At least in persons at risk for OCD, the presence of subclinical OCD may herald the onset of OCD, though in others may be an independent condition that does not lead to full OCD. ..
  50. Sabharwal R, Zhang Z, Lu Y, Abboud F, Russo A, Chapleau M. Receptor activity-modifying protein 1 increases baroreflex sensitivity and attenuates Angiotensin-induced hypertension. Hypertension. 2010;55:627-35 pubmed publisher
    ..We conclude that RAMP1 overexpression attenuates Ang-II-induced hypertension and induces a protective change in cardiovascular autonomic regulation. ..
  51. Shahi P, Gulshan K, Naar A, Moye Rowley W. Differential roles of transcriptional mediator subunits in regulation of multidrug resistance gene expression in Saccharomyces cerevisiae. Mol Biol Cell. 2010;21:2469-82 pubmed publisher
    ..Coimmunoprecipitation experiments revealed that association of Pdr3 with Med12 can only be detected in rho(0) cells. These experiments uncover the unique importance of Med12 in activated transcription of PDR5 seen in rho(0) cells. ..
  52. Lin S, Baye L, Westfall T, Slusarski D. Wnt5b-Ryk pathway provides directional signals to regulate gastrulation movement. J Cell Biol. 2010;190:263-78 pubmed publisher
    ..Using co-culture assays to generate directional Wnt5b cues, we demonstrate that Ryk-expressing cells migrate away from the Wnt5b source. We conclude that full-length Ryk conveys Wnt5b signals in a directional manner during gastrulation...
  53. Drake J, Barnes J, Madsen J, Domann F, Stipp C, Henry M. ZEB1 coordinately regulates laminin-332 and {beta}4 integrin expression altering the invasive phenotype of prostate cancer cells. J Biol Chem. 2010;285:33940-8 pubmed publisher
    ..These results provide a novel molecular basis for reduced laminin-332 observed in clinical prostate cancer specimens and demonstrate a context-dependent role for EMT in invasive cellular behavior. ..
  54. Sun X, Sui H, Fisher J, Yan Z, Liu X, Cho H, et al. Disease phenotype of a ferret CFTR-knockout model of cystic fibrosis. J Clin Invest. 2010;120:3149-60 pubmed publisher
    ..The animals described in this study are likely to be useful tools for dissecting CF disease pathogenesis and developing treatments. ..
  55. Chen J, Huisinga K, Viering M, Ou S, Wu C, Geyer P. Enhancer action in trans is permitted throughout the Drosophila genome. Proc Natl Acad Sci U S A. 2002;99:3723-8 pubmed
    ..These studies demonstrate that yellow transvection can occur at multiple genomic locations and indicate that the Drosophila genome generally is permissive to enhancer action in trans. ..
  56. Skeie J, Hernandez J, Hinek A, Mullins R. Molecular responses of choroidal endothelial cells to elastin derived peptides through the elastin-binding protein (GLB1). Matrix Biol. 2012;31:113-9 pubmed publisher
    ..These peptides also cause an increased mRNA expression and deposition of collagen IV in the RPE/choroid, which may alter diffusion properties between the retina and choriocapillaris. ..
  57. Schneider P, Slusarski D, Houston D. Differential role of Axin RGS domain function in Wnt signaling during anteroposterior patterning and maternal axis formation. PLoS ONE. 2012;7:e44096 pubmed publisher
    ..We further report that expression of a membrane-localized Axin construct is sufficient to inhibit Wnt/?-catenin signaling and to promote Axin protein turnover. ..
  58. Rodesch C, Pettus J, Nagoshi R. The Drosophila ovarian tumor gene is required for the organization of actin filaments during multiple stages in oogenesis. Dev Biol. 1997;190:153-64 pubmed
  59. Zhu C, Domann F. Dominant negative interference of transcription factor AP-2 causes inhibition of ErbB-3 expression and suppresses malignant cell growth. Breast Cancer Res Treat. 2002;71:47-57 pubmed
    ..Interference with the function of transcription factor AP-2 might provide a potential strategy for modulation of the malignant phenotype. ..
  60. Brockert P, Lachke S, Srikantha T, Pujol C, Galask R, Soll D. Phenotypic switching and mating type switching of Candida glabrata at sites of colonization. Infect Immun. 2003;71:7109-18 pubmed
  61. Pinto B, Wilmington S, Hornick E, Wallrath L, Geyer P. Tissue-specific defects are caused by loss of the Drosophila MAN1 LEM domain protein. Genetics. 2008;180:133-45 pubmed publisher
    ..The tissue-specific, age-enhanced dMAN1 mutant phenotypes are reminiscent of human laminopathies, suggesting that studies in Drosophila will provide insights into lamina dysfunction associated with disease. ..
  62. Falsetta M, Bair T, Ku S, vanden Hoven R, Steichen C, McEwan A, et al. Transcriptional profiling identifies the metabolic phenotype of gonococcal biofilms. Infect Immun. 2009;77:3522-32 pubmed publisher
    ..These data suggest that biofilm formation by the gonococcus may represent a response that is linked to the control of nitric oxide steady-state levels during infection of cervical epithelial cells. ..
  63. Erkonen G, Hermann G, Miller R, Thedens D, Nopoulos P, Wemmie J, et al. Neonatal leptin administration alters regional brain volumes and blocks neonatal growth restriction-induced behavioral and cardiovascular dysfunction in male mice. Pediatr Res. 2011;69:406-12 pubmed publisher
    ..In conclusion, the effects of neonatal leptin administration are modulated by concurrent growth and gender. In growth restricted male mice, physiologic leptin replacement improves adult neurocardiovascular outcomes. ..
  64. Wirth T, Martin M, Starbeck Miller G, Harty J, Badovinac V. Secondary CD8+ T-cell responses are controlled by systemic inflammation. Eur J Immunol. 2011;41:1321-33 pubmed publisher
  65. Schneider P, Olthoff J, Matthews A, Houston D. Use of fully modified 2'-O-methyl antisense oligos for loss-of-function studies in vertebrate embryos. Genesis. 2011;49:117-23 pubmed publisher
    ..These results show that fully modified 2'-OMe oligos can function as RNase-H independent antisense reagents in vertebrate embryos and can thus serve as an alternative modification to morpholinos in some cases. ..
  66. Martin M, Wirth T, Lauer P, Harty J, Badovinac V. The impact of pre-existing memory on differentiation of newly recruited naive CD8 T cells. J Immunol. 2011;187:2923-31 pubmed publisher
    ..Therefore, these data suggested that the presence of anti-vectorial immunity impacts the rate of differentiation of vector-induced naive CD8 T cells, a notion with important implications for the design of future vaccination strategies. ..
  67. Rodriguez Lebron E, Costa M, Costa M, Luna Cancalon K, Peron T, Fischer S, et al. Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice. Mol Ther. 2013;21:1909-18 pubmed publisher
    ..Our findings support the preclinical development of molecular therapies aimed at halting the expression of ATXN3 as a viable approach to SCA3 and point to microRNA deregulation as a potential surrogate marker of SCA3 pathogenesis. ..
  68. Essar D, Eberly L, Crawford I. Evolutionary differences in chromosomal locations of four early genes of the tryptophan pathway in fluorescent pseudomonads: DNA sequences and characterization of Pseudomonas putida trpE and trpGDC. J Bacteriol. 1990;172:867-83 pubmed
  69. Malinowski S, Pulido J, Goeken N, Brown C, Folk J. The association of HLA-B8, B51, DR2, and multiple sclerosis in pars planitis. Ophthalmology. 1993;100:1199-205 pubmed
    ..To establish a human leukocyte antigen (HLA) association in a homogeneous population of patients with pars planitis...
  70. Geyer P, Patton J, Rodesch C, Nagoshi R. Genetic and molecular characterization of P element-induced mutations reveals that the Drosophila ovarian tumor gene has maternal activity and a variable null phenotype. Genetics. 1993;133:265-78 pubmed
    ..In addition we demonstrate that the otu zygotic null phenotype is variable, ranging from the absence of cysts in the most extreme cases, to the presence of tumorous egg chambers. ..
  71. Mao Draayer Y, Galbraith A, Pittman D, Cool M, Malone R. Analysis of meiotic recombination pathways in the yeast Saccharomyces cerevisiae. Genetics. 1996;144:71-86 pubmed
    ..Finally, mutations in either HOP1 or RED1 reduce the number of double-strand breaks observed at the HIS2 meiotic recombination hotspot. ..
  72. Winokur P, Canton R, Casellas J, Legakis N. Variations in the prevalence of strains expressing an extended-spectrum beta-lactamase phenotype and characterization of isolates from Europe, the Americas, and the Western Pacific region. Clin Infect Dis. 2001;32 Suppl 2:S94-103 pubmed
    ..Imipenem remains highly effective against ESBL strains. Organisms expressing an ESBL are widely distributed worldwide, although prevalence rates are significantly higher in certain geographic regions. ..
  73. Shaffer M, Walling H, Stone M. Langerhans cell histiocytosis presenting as blueberry muffin baby. J Am Acad Dermatol. 2005;53:S143-6 pubmed
    ..Six months later, the skin lesions had resolved, but radiographs revealed lytic bone lesions of the right tibia, right ilium, and left pubic ramus, consistent with skeletal Langerhans cell histiocytosis. ..
  74. Tomanek R, Hansen H, Christensen L. Temporally expressed PDGF and FGF-2 regulate embryonic coronary artery formation and growth. Arterioscler Thromb Vasc Biol. 2008;28:1237-43 pubmed publisher
  75. Peters A, Plenge R, Graham R, Altshuler D, Moser K, Gaffney P, et al. A novel polymorphism of the human CD40 receptor with enhanced function. Blood. 2008;112:1863-71 pubmed publisher
    ..We have thus identified a novel genetic variant of hCD40 with a gain-of-function immune phenotype. ..
  76. Rahimov F, Marazita M, Visel A, Cooper M, Hitchler M, Rubini M, et al. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet. 2008;40:1341-7 pubmed publisher
    ..Our findings place IRF6 and AP-2alpha in the same developmental pathway and identify a high-frequency variant in a regulatory element contributing substantially to a common, complex disorder. ..
  77. Zhang Q, Seo S, Bugge K, Stone E, Sheffield V. BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet. 2012;21:1945-53 pubmed publisher
    ..This study illustrates an effective approach to appreciate the biological significance of a small effect. ..
  78. Beedle A, Turner A, Saito Y, Lueck J, Foltz S, Fortunato M, et al. Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J Clin Invest. 2012;122:3330-42 pubmed publisher
  79. Eppsteiner R, Shearer A, Hildebrand M, DeLuca A, Ji H, Dunn C, et al. Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. Hear Res. 2012;292:51-8 pubmed publisher
  80. Sowers L, Loo L, Wu Y, Campbell E, Ulrich J, Wu S, et al. Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction. Mol Psychiatry. 2013;18:1077-89 pubmed publisher
    ..The data presented here provide new insight into the biological roles of Prickle2, its behavioral importance, and suggest disruptions in non-canonical Wnt genes such as PRICKLE2 may contribute to synaptic abnormalities underlying ASDs. ..
  81. Bruse S, Moreau M, Bromberg Y, Jang J, Wang N, Ha H, et al. Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility. Hum Genomics. 2016;10:1 pubmed publisher
    ..Our integrative analysis through both genetic and functional approaches identified two candidate genes (TACC2 and MYO1E) that augment cigarette smoke (CS)-induced cytotoxicity and, potentially, COPD susceptibility. ..
  82. Braverman N, Raymond G, Rizzo W, Moser A, Wilkinson M, Stone E, et al. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117:313-21 pubmed publisher
  83. Huang J, Wang K, Wei P, Liu X, Liu X, Tan K, et al. FLAGS: A Flexible and Adaptive Association Test for Gene Sets Using Summary Statistics. Genetics. 2016;202:919-29 pubmed publisher
    ..Our method allows for the more powerful application of gene set analysis to complex diseases, which will have broad use given that GWAS summary results are increasingly publicly available. ..
  84. Essar D, Eberly L, Hadero A, Crawford I. Identification and characterization of genes for a second anthranilate synthase in Pseudomonas aeruginosa: interchangeability of the two anthranilate synthases and evolutionary implications. J Bacteriol. 1990;172:884-900 pubmed
    ..Introduction of an inactivated trpE gene into a phnA mutant abolished residual pyocyanin production, suggesting that the trpE trpG gene products are capable of providing some anthranilate for pyocyanin synthesis. ..
  85. Wu A, Hallstrom T, Moye Rowley W. ROD1, a novel gene conferring multiple resistance phenotypes in Saccharomyces cerevisiae. J Biol Chem. 1996;271:2914-20 pubmed
    ..Strains that lack the ROD1 gene are hypersensitive to these same compounds. Rod1p represents a new type of molecule influencing drug tolerance in eukaryotes. ..
  86. Anderson M, Certel S, Certel K, Lee T, Montell D, Johnson W. Function of the Drosophila POU domain transcription factor drifter as an upstream regulator of breathless receptor tyrosine kinase expression in developing trachea. Development. 1996;122:4169-78 pubmed
    ..This example of a mechanism for maintenance of a committed cell fate offers a model for understanding how essential gene activities can be maintained throughout organogenesis. ..
  87. Henry M, Campbell K. A role for dystroglycan in basement membrane assembly. Cell. 1998;95:859-70 pubmed
    ..These data establish a role for dystroglycan in the assembly of basement membranes and suggest fundamental mechanisms underlying this process. ..
  88. Judd B, Myung P, Leng L, Obergfell A, Pear W, Shattil S, et al. Hematopoietic reconstitution of SLP-76 corrects hemostasis and platelet signaling through alpha IIb beta 3 and collagen receptors. Proc Natl Acad Sci U S A. 2000;97:12056-61 pubmed
    ..These studies establish that SLP-76 functions downstream of alpha IIb beta 3 and collagen receptors in platelets. Furthermore, expression of SLP-76 in hematopoietic cells, including platelets, plays a necessary role in hemostasis. ..
  89. Ridnour L, Oberley T, Oberley L. Tumor suppressive effects of MnSOD overexpression may involve imbalance in peroxide generation versus peroxide removal. Antioxid Redox Signal. 2004;6:501-12 pubmed
    ..These results suggest that the tumor suppressive effect of MnSOD overexpression is in part mediated by an antioxidant imbalance resulting in the reduced capacity to metabolize increased levels of intracellular peroxides. ..
  90. Zhang Y, Knosp B, Maconochie M, Friedman R, Smith R. A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. J Assoc Res Otolaryngol. 2004;5:295-304 pubmed
    ..These results are consistent with clinical data and implicate haploinsufficiency as the cause of BOR syndrome and DFNA10. ..
  91. Jahrsdorfer B, Blackwell S, Wooldridge J, Taylor C, Weiner G. Serum alters the uptake and biologic activity of CpG oligodeoxynucleotides in B cell chronic lymphocytic leukemia. Oligonucleotides. 2005;15:51-9 pubmed
    ..In conclusion, systemic short-term application of CpG ODN appears to be sufficient to induce phenotypic changes, but higher doses of CpG ODN than previously thought may be necessary because of inhibition of their uptake by serum...
  92. Duex J, Tang F, Weisman L. The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover. J Cell Biol. 2006;172:693-704 pubmed
    ..These findings suggest that the dynamic changes in PI3,5P2 are controlled through a tight coupling of synthesis and turnover. ..