Experts and Doctors on phenotype in United States

Summary

Locale: United States
Topic: phenotype

Top Publications

  1. Sweigart A. The genetics of postmating, prezygotic reproductive isolation between Drosophila virilis and D. americana. Genetics. 2010;184:401-10 pubmed publisher
    ..americana parent. These findings, together with results from classical experiments, suggest that male-female coevolution within D. americana may have driven postmating, prezygotic isolation between species. ..
  2. Pauli D, Oliver B, Mahowald A. The role of the ovarian tumor locus in Drosophila melanogaster germ line sex determination. Development. 1993;119:123-34 pubmed
    ..Altogether, our results imply that the otu locus acts, along with ovo, snf, and Sxl, in a pathway (or parallel pathways) required for proper sex determination of the female germ line. ..
  3. King S. The "Transport Specificity Ratio": a structure-function tool to search the protein fold for loci that control transition state stability in membrane transport catalysis. BMC Biochem. 2004;5:16 pubmed
  4. Weng Y, DiRusso C, Reilly A, Black P, Ding X. Hepatic gene expression changes in mouse models with liver-specific deletion or global suppression of the NADPH-cytochrome P450 reductase gene. Mechanistic implications for the regulation of microsomal cytochrome P450 and the fatty liver phenotype. J Biol Chem. 2005;280:31686-98 pubmed
  5. Lockwood C, Lynch A, Hardin J. Dynamic analysis identifies novel roles for DLG-1 subdomains in AJM-1 recruitment and LET-413-dependent apical focusing. J Cell Sci. 2008;121:1477-87 pubmed publisher
  6. Eun S, Lea K, Overstreet E, Stevens S, Lee J, Fischer J. Identification of genes that interact with Drosophila liquid facets. Genetics. 2007;175:1163-74 pubmed
    ..We describe the mutant alleles and mutant phenotypes of Rala and aux. We discuss the relevance of all of these genetic interactions to the function of Liquid facets in Notch signaling. ..
  7. Quesada T, Gopal V, Cumbie W, Eckert A, Wegrzyn J, Neale D, et al. Association mapping of quantitative disease resistance in a natural population of loblolly pine (Pinus taeda L.). Genetics. 2010;186:677-86 pubmed publisher
    ..We also discovered associated genes with unknown function, which would have remained undetected in a candidate gene approach constrained by annotation for disease resistance or stress response...
  8. Zeineldin M, Neufeld K. Understanding phenotypic variation in rodent models with germline Apc mutations. Cancer Res. 2013;73:2389-99 pubmed publisher
  9. Obaldía N, Dow G, Gerena L, Kyle D, Otero W, Mantel P, et al. Altered drug susceptibility during host adaptation of a Plasmodium falciparum strain in a non-human primate model. Sci Rep. 2016;6:21216 pubmed publisher
    ..We also present data of early treatment failures with an oral artemisinin combination therapy in a pre-artemisinin resistant P. falciparum Thai isolate in this animal model. ..

More Information

Publications241 found, 100 shown here

  1. Parsons J, Mastronarde J. Exercise-induced asthma. Curr Opin Pulm Med. 2009;15:25-8 pubmed publisher
    ..Future research is needed to better define the optimal diagnostic test or algorithm. Clinical outcome and translational studies should focus on more precise phenotyping of participants and include more global measures of inflammation. ..
  2. Hsouna A, Nallamothu G, Kose N, Guinea M, Dammai V, Hsu T. Drosophila von Hippel-Lindau tumor suppressor gene function in epithelial tubule morphogenesis. Mol Cell Biol. 2010;30:3779-94 pubmed publisher
    ..Importantly, the regulatory function in tubular morphogenesis is conserved in the mammalian system, as conditional knockout of Vhl in mouse kidney also resulted in similar cell motility and lumen phenotypes. ..
  3. Weleber R, Michaelides M, Trzupek K, Stover N, Stone E. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011;52:292-302 pubmed publisher
    ..The identification of patients with mutations in RPE65 has attained greater significance now that gene replacement trials have begun. The features presented in this article assist in the recognition of this form of LCA/SECORD. ..
  4. McKee C, Ye Y, Richburg J. Testicular germ cell sensitivity to TRAIL-induced apoptosis is dependent upon p53 expression and is synergistically enhanced by DR5 agonistic antibody treatment. Apoptosis. 2006;11:2237-50 pubmed
  5. Taghbalout A, Rothfield L. RNaseE and the other constituents of the RNA degradosome are components of the bacterial cytoskeleton. Proc Natl Acad Sci U S A. 2007;104:1667-72 pubmed
  6. Uppal S, Li Y, Wendt E, Cayer M, Barnes J, Conway D, et al. Pattern analysis of microtubule-polymerizing and -depolymerizing agent combinations as cancer chemotherapies. Int J Oncol. 2007;31:1281-91 pubmed
    ..These therapies appear to restore in transformed cells some of the features of a contact-inhibited cell, and to impede progress through the cell cycle even when provided at nanomolar concentrations. ..
  7. Park S, Rancour D, Bednarek S. In planta analysis of the cell cycle-dependent localization of AtCDC48A and its critical roles in cell division, expansion, and differentiation. Plant Physiol. 2008;148:246-58 pubmed publisher
    ..These results demonstrate that CDC48A/p97 is critical for cytokinesis, cell expansion, and differentiation in plants. ..
  8. Everman D, Bartels C, Yang Y, Yanamandra N, Goodman F, Mendoza Londono J, et al. The mutational spectrum of brachydactyly type C. Am J Med Genet. 2002;112:291-6 pubmed
    ..These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5...
  9. Pavelka N, Rancati G, Zhu J, Bradford W, Saraf A, Florens L, et al. Aneuploidy confers quantitative proteome changes and phenotypic variation in budding yeast. Nature. 2010;468:321-5 pubmed publisher
  10. Stout J, Weaver M, Solomon A, Queller S, Hui S, Johnson S, et al. Are cognitive changes progressive in prediagnostic HD?. Cogn Behav Neurol. 2007;20:212-8 pubmed
    ..Classification schemes that incorporate both genetic and phenotypic information may be more sensitive for tracking neurocognitive signs of disease progression. ..
  11. Mishra R, Simonson M. Oleate induces a myofibroblast-like phenotype in mesangial cells. Arterioscler Thromb Vasc Biol. 2008;28:541-7 pubmed
    ..Collectively, these results demonstrate that oleate can induce a myofibroblast phenotype in mesangial cells, which suggests a mechanism whereby elevated free fatty acids might promote microvascular remodeling in vivo. ..
  12. Waller D, Dole J, Bersch A. Effects of stress and phenotypic variation on inbreeding depression in Brassica rapa. Evolution. 2008;62:917-31 pubmed publisher
    ..Variable levels of phenotypic variation provide a parsimonious explanation for shifts in inbreeding depression that should be tested before invoking more complex hypotheses. ..
  13. Zhou G, Kowalczyk D, Humbard M, Rohatgi S, Maupin Furlow J. Proteasomal components required for cell growth and stress responses in the haloarchaeon Haloferax volcanii. J Bacteriol. 2008;190:8096-105 pubmed publisher
    ..This contrasted with what was seen for panA knockouts, which displayed enhanced thermotolerance. Together, these results provide new and important insight into the biological role of proteasomes in archaea...
  14. Zidar D, Mudd J, Juchnowski S, Lopes J, Sparks S, Park S, et al. Altered Maturation Status and Possible Immune Exhaustion of CD8 T Lymphocytes in the Peripheral Blood of Patients Presenting With Acute Coronary Syndromes. Arterioscler Thromb Vasc Biol. 2016;36:389-97 pubmed publisher
    ..These data provide evidence that oxidized low-density lipoprotein could play a role in immune exhaustion, and this immunophenotype may be a biomarker for ACS. ..
  15. Klee H. Genetic Control of Floral Architecture: Insights into Improving Crop Yield. Cell. 2017;169:983-984 pubmed publisher
    ..The findings from Soyk et al. in this issue of Cell help understand how to bypass such negative effects and improve crop productivity. ..
  16. Bansal R, Pfeiffer S. FGF-2 converts mature oligodendrocytes to a novel phenotype. J Neurosci Res. 1997;50:215-28 pubmed
    ..In particular, on the basis of these data we predict the appearance of cells in and around multiple sclerosis plaques with the phenotype O4+, NG2-, A2B5-, O1-, MBP-. ..
  17. Granados Cifuentes C, Bellantuono A, Ridgway T, Hoegh Guldberg O, Rodriguez Lanetty M. High natural gene expression variation in the reef-building coral Acropora millepora: potential for acclimative and adaptive plasticity. BMC Genomics. 2013;14:228 pubmed publisher
    ..However, the examination of natural gene expression variation has received less attention. This variation has been implicated as an important factor in evolutionary processes, upon which natural selection can act...
  18. Nandety R, Caplan J, Cavanaugh K, Perroud B, Wroblewski T, Michelmore R, et al. The role of TIR-NBS and TIR-X proteins in plant basal defense responses. Plant Physiol. 2013;162:1459-72 pubmed publisher
  19. Roberts L, Boström P, O Sullivan J, Schinzel R, Lewis G, Dejam A, et al. β-Aminoisobutyric acid induces browning of white fat and hepatic β-oxidation and is inversely correlated with cardiometabolic risk factors. Cell Metab. 2014;19:96-108 pubmed publisher
    ..In humans, plasma BAIBA concentrations are increased with exercise and inversely associated with metabolic risk factors. BAIBA may thus contribute to exercise-induced protection from metabolic diseases. ..
  20. Smyth K, Belote J. The dominant temperature-sensitive lethal DTS7 of Drosophila melanogaster encodes an altered 20S proteasome beta-type subunit. Genetics. 1999;151:211-20 pubmed
    ..We propose that these mutants might act as "poison subunits," disrupting proteasome function in a dosage-dependent manner, and suggest how they may interact on the basis of the structure of the yeast 20S proteasome. ..
  21. Kim W, Hecht M. Sequence determinants of enhanced amyloidogenicity of Alzheimer A{beta}42 peptide relative to A{beta}40. J Biol Chem. 2005;280:35069-76 pubmed
    ..Thus, properties of the side chains at positions 41 and 42, rather than length per se, cause Abeta42 to aggregate more readily than Abeta40. ..
  22. Chaibub Neto E, Ferrara C, Attie A, Yandell B. Inferring causal phenotype networks from segregating populations. Genetics. 2008;179:1089-100 pubmed publisher
    ..Finally, we illustrate our method with an example involving gene expression and metabolite traits from experimental crosses. ..
  23. Laughlin K, Luo D, Liu C, Shaw G, Warrington K, Law B, et al. Hematopoietic- and neurologic-expressed sequence 1 (Hn1) depletion in B16.F10 melanoma cells promotes a differentiated phenotype that includes increased melanogenesis and cell cycle arrest. Differentiation. 2009;78:35-44 pubmed publisher
    ..These data, coupled with reports on Hn1 expression in regeneration and development, suggest that Hn1 functions as a suppressor of differentiation in cells undergoing repair or proliferation. ..
  24. Hasler Rapacz J, Ellegren H, Fridolfsson A, Kirkpatrick B, Kirk S, Andersson L, et al. Identification of a mutation in the low density lipoprotein receptor gene associated with recessive familial hypercholesterolemia in swine. Am J Med Genet. 1998;76:379-86 pubmed
    ..The C84 mutation cosegregates invariantly with hypercholesterolemia, which strongly suggests that this mutation is responsible for the observed hyperlipidemia. ..
  25. Johnson M, Wang K, Diasio R. Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin Cancer Res. 2002;8:768-74 pubmed
    ..These data suggest that both variant alleles are unrelated to DPD deficiency and emphasize the need to perform detailed familial genotypic and phenotypic analysis while characterizing this pharmacogenetic syndrome. ..
  26. Shackman A, Fox A, Oler J, Shelton S, Davidson R, Kalin N. Neural mechanisms underlying heterogeneity in the presentation of anxious temperament. Proc Natl Acad Sci U S A. 2013;110:6145-50 pubmed publisher
    ..These findings provide a framework for understanding the mechanisms that lead to heterogeneity in the clinical presentation of internalizing disorders and set the stage for developing improved interventions. ..
  27. Prinz S, Aldridge C, Ramsey S, Taylor R, Galitski T. Control of signaling in a MAP-kinase pathway by an RNA-binding protein. PLoS ONE. 2007;2:e249 pubmed
    ..The results provide an example of what may be a genome-scale level of regulation at the interface of signaling networks and protein-RNA binding networks. ..
  28. Herberger A, Loretz C. Morpholino oligonucleotide knockdown of the extracellular calcium-sensing receptor impairs early skeletal development in zebrafish. Comp Biochem Physiol A Mol Integr Physiol. 2013;166:470-81 pubmed publisher
    ..We conclude that, like its critically important role in normal bone development in mammals, CaSR is essential in skeletogenesis in fishes. ..
  29. Choi C, Rushton E, Vardy A, Higgins L, Augello A, Parod R. Mode of action and human relevance of THF-induced mouse liver tumors. Toxicol Lett. 2017;276:138-143 pubmed publisher
    ..This finding supports the hypothesis THF-induced carcinogenicity is likely mediated via CAR activation that has limited, if any, relevance to humans. ..
  30. Meinke D, Muralla R, Sweeney C, Dickerman A. Identifying essential genes in Arabidopsis thaliana. Trends Plant Sci. 2008;13:483-91 pubmed publisher
    ..The long-term goal of this collaborative effort is to facilitate basic research in plant biology and complement ongoing research with other model organisms. ..
  31. Shook G, Chaffer M, Wu X, Ezra E. Genetic parameters for paratuberculosis infection and effect of infection on production traits in Israeli Holsteins. Anim Genet. 2012;43 Suppl 1:56-64 pubmed publisher
    ..Recursive modeling has theoretical advantages over linear models for these phenotypes, but the estimated genetic parameters in this study did not differ significantly between the two types of models. ..
  32. Novosad S, Barker A. Chronic obstructive pulmonary disease and bronchiectasis. Curr Opin Pulm Med. 2013;19:133-9 pubmed publisher
  33. Baptista P, Moran E, Vyas D, Ribeiro M, Atala A, Sparks J, et al. Fluid Flow Regulation of Revascularization and Cellular Organization in a Bioengineered Liver Platform. Tissue Eng Part C Methods. 2016;22:199-207 pubmed publisher
  34. Arakane Y, Specht C, Kramer K, Muthukrishnan S, Beeman R. Chitin synthases are required for survival, fecundity and egg hatch in the red flour beetle, Tribolium castaneum. Insect Biochem Mol Biol. 2008;38:959-62 pubmed publisher
    ..These results extend our previous findings that CHS genes are required for all types of molt. The present study also demonstrates that these genes have additional roles in embryonic and adult development. ..
  35. Mosenson J, Zloza A, Nieland J, Garrett Mayer E, Eby J, Huelsmann E, et al. Mutant HSP70 reverses autoimmune depigmentation in vitiligo. Sci Transl Med. 2013;5:174ra28 pubmed publisher
    ..In addition, ex vivo treatment of human skin averted the disease-related shift from quiescent to effector T cell phenotype. Thus, HSP70iQ435A DNA delivery may offer potent treatment opportunities for vitiligo. ..
  36. Shippy T, Guo J, Brown S, Beeman R, Denell R. Analysis of maxillopedia expression pattern and larval cuticular phenotype in wild-type and mutant tribolium. Genetics. 2000;155:721-31 pubmed
    ..The mxp mutant larval phenotype in Tribolium is consistent with the hypothesis that an ancestral pb-like gene had an embryonic function that was lost in the lineage leading to Drosophila. ..
  37. Gao W, Liu Y, Giometti C, Tollaksen S, Khare T, Wu L, et al. Knock-out of SO1377 gene, which encodes the member of a conserved hypothetical bacterial protein family COG2268, results in alteration of iron metabolism, increased spontaneous mutation and hydrogen peroxide sensitivity in Shewanella oneidensis MR-1. BMC Genomics. 2006;7:76 pubmed
    ..Our results showed that the knock-out of SO1377 gene had pleiotropic effects and suggested that SO1377 may play a role in iron homeostasis and oxidative damage protection in S. oneidensis MR-1. ..
  38. Jorgenson T, Williams B, Wendland A, Bilger A, Sandgren E, Drinkwater N. Identification of susceptibility loci in a mouse model of KRASG12D-driven pancreatic cancer. Cancer Res. 2010;70:8398-406 pubmed publisher
    ..Our findings provide evidence that regions of chromosomes 2, 4, and 12 influence the development and progression of pancreatic neoplasms initiated by an oncogenic allele of KRAS in mice...
  39. Wang J, Liu Y, Tan L, Lo J, Du J, Ryu M, et al. Distinct requirements of hematopoietic stem cell activity and Nras G12D signaling in different cell types during leukemogenesis. Cell Cycle. 2011;10:2836-9 pubmed
    ..Our results suggest that different lineages of hematopoietic cells might have differential requirements of HSC activity and Nras G12D signaling during leukemogenesis. ..
  40. Sekhon R, Childs K, Santoro N, Foster C, Buell C, de Leon N, et al. Transcriptional and metabolic analysis of senescence induced by preventing pollination in maize. Plant Physiol. 2012;159:1730-44 pubmed publisher
    ..Insights from this study will be valuable in systems biology of senescence in maize and other grasses. ..
  41. Lazazzera B, Bates D, Kiley P. The activity of the Escherichia coli transcription factor FNR is regulated by a change in oligomeric state. Genes Dev. 1993;7:1993-2005 pubmed
    ..Taken together, these data have led us to propose that under anaerobic conditions FNR is a dimer that is active for DNA binding, and under aerobic conditions, FNR is inactivated by conversion to a monomer. ..
  42. Rao S, Li L, Li X, Moser K, Guo Z, Shen G, et al. Genetic linkage analysis of longitudinal hypertension phenotypes using three summary measures. BMC Genet. 2003;4 Suppl 1:S24 pubmed
    ..We conclude that mean and principal components are feasible alternatives for genetic linkage analysis of longitudinal phenotypes, but the slope might have a separate genetic basis from that of the original longitudinal phenotypes. ..
  43. Escalante P, McKean Cowdin R, Ramaswamy S, Williams Bouyer N, Teeter L, Jones B, et al. Can mycobacterial katG genetic changes in isoniazid-resistant tuberculosis influence human disease features?. Int J Tuberc Lung Dis. 2013;17:644-51 pubmed publisher
    ..7, 95%CI 1.0-34.3, P = 0.05). Most INHr TB cases with non-katG mutations have disease associated with faster response to treatment, and most cases with katG mutants have localized lung involvement. ..
  44. Marchevsky A, LeStang N, Hiroshima K, Pelosi G, Attanoos R, Churg A, et al. The differential diagnosis between pleural sarcomatoid mesothelioma and spindle cell/pleomorphic (sarcomatoid) carcinomas of the lung: evidence-based guidelines from the International Mesothelioma Panel and the MESOPATH National Reference Center. Hum Pathol. 2017;67:160-168 pubmed publisher
  45. Huang L, Brooks S, Li W, Fellers J, Trick H, Gill B. Map-based cloning of leaf rust resistance gene Lr21 from the large and polyploid genome of bread wheat. Genetics. 2003;164:655-64 pubmed
    ..The successful map-based cloning approach as demonstrated here now opens the door for cloning of many crop-specific agronomic traits located in the gene-rich regions of bread wheat. ..
  46. Blednov Y, Walker D, Martinez M, Harris R. Reduced alcohol consumption in mice lacking preprodynorphin. Alcohol. 2006;40:73-86 pubmed
    ..These results indicate that deletion of preprodynorphin leads to substantial reduction of alcohol intake in female mice, and suggest that this is caused by decreased orosensory reward of alcohol (sweet taste and/or palatability). ..
  47. O Farrell C, Martin K, Hutton M, Delatycki M, Cookson M, Lockhart P. Mutant torsinA interacts with tyrosine hydroxylase in cultured cells. Neuroscience. 2009;164:1127-37 pubmed publisher
    ..Our results suggest that the interaction of tyrosine hydroxylase and mutant torsinA may contribute to the phenotype and reported dopaminergic dysfunction in torsinA-mediated dystonia. ..
  48. Christians M, Robles L, Zeller S, Larsen P. The eer5 mutation, which affects a novel proteasome-related subunit, indicates a prominent role for the COP9 signalosome in resetting the ethylene-signaling pathway in Arabidopsis. Plant J. 2008;55:467-77 pubmed publisher
  49. Shen A, O Leary K, Kasper C. Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase. J Biol Chem. 2002;277:6536-41 pubmed
    ..5 of gestation. No CYPOR -/- embryos were observed after day 13.5 of gestation. These studies demonstrate that loss of microsomal CYPOR does not block early embryonic development but is essential for progression past mid-gestation. ..
  50. Haigis K, Hoff P, White A, Shoemaker A, Halberg R, Dove W. Tumor regionality in the mouse intestine reflects the mechanism of loss of Apc function. Proc Natl Acad Sci U S A. 2004;101:9769-73 pubmed
    ..Perhaps, the power of mouse genetics and biology can be harnessed to identify genetic and other factors that contribute to tumor regionality. ..
  51. Wirtz M, Samples J, Choi D, Gaudette N. Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. Am J Ophthalmol. 2007;144:75-80 pubmed
  52. Miller B, Dorner J, Shou M, Sari Y, Barton S, Sengelaub D, et al. Up-regulation of GLT1 expression increases glutamate uptake and attenuates the Huntington's disease phenotype in the R6/2 mouse. Neuroscience. 2008;153:329-37 pubmed publisher
    ..The glutamate uptake deficit, moreover, is present in symptomatic HD mice and reversal of this deficit by up-regulating the functional expression of GLT1 with ceftriaxone attenuates the HD phenotype. ..
  53. Mohney B, Pulido J, Lindor N, Hogan M, Consugar M, Peters J, et al. A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. Ophthalmology. 2011;118:1137-44 pubmed publisher
    ..To describe a novel laminin ?-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome...
  54. Blank C, Cui H, Moore L, Walls R. MicrO: an ontology of phenotypic and metabolic characters, assays, and culture media found in prokaryotic taxonomic descriptions. J Biomed Semantics. 2016;7:18 pubmed publisher
    ..e., the gene content in genomes). Future ontology development will include incorporation of pathogenic phenotypes and prokaryotic habitats. ..
  55. Wang Y, Bian Y, Luo J, Lu M, Xiong Y, Guo S, et al. Cholesterol and fatty acids regulate cysteine ubiquitylation of ACAT2 through competitive oxidation. Nat Cell Biol. 2017;19:808-819 pubmed publisher
    ..This unconventional cysteine ubiquitylation of ACAT2 constitutes an important mechanism for sensing lipid-overload-induced ROS and fine-tuning lipid homeostasis. ..
  56. Heuer J, Kaufman T. Homeotic genes have specific functional roles in the establishment of the Drosophila embryonic peripheral nervous system. Development. 1992;115:35-47 pubmed
    ..Our results are suggestive of a role for the homeotic gene products in regulating genes which are necessary for generating sensory progenitor cells in the developing PNS. ..
  57. del Rio T, Werner H, Enquist L. The pseudorabies virus VP22 homologue (UL49) is dispensable for virus growth in vitro and has no effect on virulence and neuronal spread in rodents. J Virol. 2002;76:774-82 pubmed
    ..Moreover, the VP22 null mutant was as virulent and neuroinvasive as the wild-type virus after infection of the rodent eye and spread to the brain using both anterograde and retrograde neuronal circuits. ..
  58. Ding L, Wang H, Lang W, Xiao L. Protein kinase C-epsilon promotes survival of lung cancer cells by suppressing apoptosis through dysregulation of the mitochondrial caspase pathway. J Biol Chem. 2002;277:35305-13 pubmed
    ..Taken together, our findings suggest an important role for PKC-epsilon in regulating survival of lung cancer cells. ..
  59. Vardeny O, Detry M, Moran J, Johnson M, Sweitzer N. The beta2 adrenergic receptor Gln27Glu polymorphism affects insulin resistance in patients with heart failure: possible modulation by choice of beta blocker. J Cardiovasc Pharmacol. 2008;52:500-6 pubmed publisher
    ..Future studies are needed to confirm whether treatment with carvedilol may be associated with decreased insulin and insulin resistance in beta2-AR codon 27 Gln carriers. ..
  60. Bose T, Voruganti V, Tejero M, Proffitt J, Cox L, Vandeberg J, et al. Quantitative loci regulating plasma levels of gamma glutamyl transferase and albumin and their genetic correlations with cardiovascular risk factors. Exp Biol Med (Maywood). 2009;234:vi, 1519-24 pubmed publisher
    ..These results imply that variations in the plasma levels of GGT and ALB are under significant genetic regulation and that a common genetic component influences ALB and cardiovascular risk factor phenotypes. ..
  61. Guilford B, Ryals J, Wright D. Phenotypic changes in diabetic neuropathy induced by a high-fat diet in diabetic C57BL/6 mice. Exp Diabetes Res. 2011;2011:848307 pubmed publisher
    ..These results provide new insight as to how dyslipidemia may alter the development and phenotype of diabetic neuropathy. ..
  62. Zhang S, Loch A, Radtke F, Egan S, Xu K. Jagged1 is the major regulator of Notch-dependent cell fate in proximal airways. Dev Dyn. 2013;242:678-86 pubmed publisher
  63. Pham C, Flores C, Yang C, Pinheiro E, Yearley J, Sayour E, et al. Differential Immune Microenvironments and Response to Immune Checkpoint Blockade among Molecular Subtypes of Murine Medulloblastoma. Clin Cancer Res. 2016;22:582-95 pubmed publisher
    ..Our findings also suggest that effective anti-PD-1 blockade does not require that systemically administered antibodies penetrate the brain tumor microenvironment. ..
  64. Rhee D, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, et al. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest. 2005;115:622-31 pubmed
    ..We conclude that lubricin has multiple functions in articulating joints and tendons that include the protection of surfaces and the control of synovial cell growth. ..
  65. Cunningham M, Seto M, Hing A, Bull M, Hopkin R, Leppig K. Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations. Birth Defects Res A Clin Mol Teratol. 2006;76:78-85 pubmed
    ..Despite the characterization of 67 unique mutations in 97 individual cases, and the availability of animal models, no obvious genotype-phenotype correlation has emerged...
  66. Zhang Z, Zhu X, Stevens L, Stein D. Distinct functional specificities are associated with protein isoforms encoded by the Drosophila dorsal-ventral patterning gene pipe. Development. 2009;136:2779-89 pubmed publisher
    ..This suggests the existence of a second mechanism that polarizes the Drosophila embryo, in addition to the ventrally restricted transcription of the pipe gene. ..
  67. Furrer S, Mohanachandran M, Waldherr S, Chang C, Damian V, Sopher B, et al. Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration. J Neurosci. 2011;31:16269-78 pubmed publisher
    ..These findings indicate that SCA7 disease pathogenesis involves a convergence of alterations in a variety of different cell types to fully recapitulate the cerebellar degeneration...
  68. Debrosse S, Okajima K, Zhang S, Nakouzi G, Schmotzer C, Lusk Kopp M, et al. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype. Mol Genet Metab. 2012;107:394-402 pubmed publisher
    ..Therefore, the basis of variability of these outcomes remains largely undetermined. ..
  69. Paustian C, Taylor P, Johnson T, Xu M, Ramírez N, Rosenthal K, et al. Extracellular ATP and Toll-like receptor 2 agonists trigger in human monocytes an activation program that favors T helper 17. PLoS ONE. 2013;8:e54804 pubmed publisher
  70. Horwitz B, Reynolds C, Walum H, Ganiban J, Spotts E, Reiss D, et al. Understanding The Role of Mate Selection Processes in Couples' Pair-Bonding Behavior. Behav Genet. 2016;46:143-9 pubmed publisher
    ..Furthermore, phenotypic assortment accounted for couple similarity in pair-bonding behavior. This suggests that individuals' genetically based characteristics are involved in their selection of mates with similar pair-bonding behavior. ..
  71. Zangani D, Darcy K, Masso Welch P, Bellamy E, Desole M, Ip M. Multiple differentiation pathways of rat mammary stromal cells in vitro: acquisition of a fibroblast, adipocyte or endothelial phenotype is dependent on hormonal and extracellular matrix stimulation. Differentiation. 1999;64:91-101 pubmed
  72. Kusano K, Johnson Schlitz D, Engels W. Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70. Science. 2001;291:2600-2 pubmed
    ..The mutant Dmblm phenotypes were partially rescued by an extra copy of the DNA repair gene Ku70, indicating that the two genes functionally interact in vivo. ..
  73. Antoch M, Gorbacheva V, Vykhovanets O, Toshkov I, Kondratov R, Kondratova A, et al. Disruption of the circadian clock due to the Clock mutation has discrete effects on aging and carcinogenesis. Cell Cycle. 2008;7:1197-204 pubmed
    ..They also highlight the existence of a complex interconnection between ageing, carcinogenesis and individual components of the circadian clock machinery...
  74. Shen A, O Leary K, Dubielzig R, Drinkwater N, Murphy C, Kasper C, et al. The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene. PLoS ONE. 2010;5:e12213 pubmed publisher
    ..Similarly, CSRP2BP haploinsufficiency may lead to human PPCD. ..
  75. Lee K, Kwon D, Ezashi T, Choi Y, Park C, Ericsson A, et al. Engraftment of human iPS cells and allogeneic porcine cells into pigs with inactivated RAG2 and accompanying severe combined immunodeficiency. Proc Natl Acad Sci U S A. 2014;111:7260-5 pubmed publisher
    ..The pigs also tolerated grafts of allogeneic porcine trophoblast stem cells. These SCID pigs should have a variety of uses in transplantation biology. ..
  76. Tian H, Ketova T, Hardy D, Xu X, Gao X, Zijlstra A, et al. Endoglin Mediates Vascular Maturation by Promoting Vascular Smooth Muscle Cell Migration and Spreading. Arterioscler Thromb Vasc Biol. 2017;37:1115-1126 pubmed publisher
  77. Maitra A, Shulgina I, Hernandez V. Conversion of active promoter-RNA polymerase complexes into inactive promoter bound complexes in E. coli by the transcription effector, ppGpp. Mol Cell. 2005;17:817-29 pubmed
  78. Tumbarello D, Turner C. Hic-5 contributes to epithelial-mesenchymal transformation through a RhoA/ROCK-dependent pathway. J Cell Physiol. 2007;211:736-47 pubmed
  79. Mathema B, Kurepina N, Yang G, Shashkina E, Manca C, Mehaffy C, et al. Epidemiologic consequences of microvariation in Mycobacterium tuberculosis. J Infect Dis. 2012;205:964-74 pubmed publisher
    ..Natural variation, with detectable phenotypic changes, among closely related clinical isolates of M. tuberculosis may alter epidemiologic patterns in human populations. ..
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