Genomes and Genes
Experts and Doctors on phenotype in Tucson, Arizona, United States
Locale: Tucson, Arizona, United States
Publications108 found, 100 shown here
- Erickson R, Díaz de Ståhl T, Bruder C, Dumanski J. A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients. Am J Med Genet A. 2007;143A:3302-8 pubmed..2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome. ..
- Bommireddy R, Babcock G, Singh R, Doetschman T. TGFbeta1 deficiency does not affect the generation and maintenance of CD4+CD25+FOXP3+ putative Treg cells, but causes their numerical inadequacy and loss of regulatory function. Clin Immunol. 2008;127:206-13 pubmed publisher..These data suggest that TGFbeta1 is required for the regulatory function of T(reg) cells to prevent activation of T cells and autoimmunity. ..
- Stillwell R, Blanckenhorn W, Teder T, Davidowitz G, Fox C. Sex differences in phenotypic plasticity affect variation in sexual size dimorphism in insects: from physiology to evolution. Annu Rev Entomol. 2010;55:227-45 pubmed publisher..Studies that combine proximate and ultimate mechanisms offer great promise for understanding variation in SSD and sex differences in body size plasticity in insects. ..
- Marcus F, McKenna W, Sherrill D, Basso C, Bauce B, Bluemke D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J. 2010;31:806-14 pubmed publisher..The present modifications of the Task Force Criteria represent a working framework to improve the diagnosis and management of this condition. Clinical Trial Registration clinicaltrials.gov Identifier: NCT00024505. ..
- Hershcovici T, Mashimo H, Fass R. The lower esophageal sphincter. Neurogastroenterol Motil. 2011;23:819-30 pubmed publisher..Pharmacologic and non-pharmacologic manipulation of receptors involved in the control of TLESR has recently emerged as a potential target for GERD therapy. ..
- Lang A, Nikolich Zugich J. Functional CD8 T cell memory responding to persistent latent infection is maintained for life. J Immunol. 2011;187:3759-68 pubmed publisher..This finding demonstrates that functional effector memory T cells, including those expressing KLRG-1, are maintained and are functional for life, despite the presence of persistent viral infection. ..
- Reynolds R, Vazquez A, Srinivasasainagendra V, Klimentidis Y, Bridges S, Allison D, et al. Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index. Rheumatol Int. 2016;36:263-70 pubmed publisher..These analyses demonstrate that a significant component of the risk of gout may involve complex interplay between genes and environment. ..
- Klimentidis Y, Arora A. Interaction of Insulin Resistance and Related Genetic Variants With Triglyceride-Associated Genetic Variants. Circ Cardiovasc Genet. 2016;9:154-61 pubmed publisher..Our findings may thus provide genetic evidence for the upregulation of triglyceride levels in insulin-resistant individuals, in addition to identifying specific genetic loci and a SNP-by-SNP interaction implicated in this process. ..
- 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. ..
- Hammer M, Ishii A, Johnstone L, Tchourbanov A, Lau B, Sprissler R, et al. Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. PLoS ONE. 2017;12:e0180485 pubmed publisher..e., typical genetic background) unless present in combination with a disease-causing truncation mutation in SCN1A. ..
- Stimson D, Estes P, Smith M, Kelly L, Ramaswami M. A product of the Drosophila stoned locus regulates neurotransmitter release. J Neurosci. 1998;18:9638-49 pubmed..We propose a model in which stonedA functions together with synaptotagmin to regulate synaptic vesicle cycling. ..
- Xiong L, Ishitani M, Lee H, Zhu J. The Arabidopsis LOS5/ABA3 locus encodes a molybdenum cofactor sulfurase and modulates cold stress- and osmotic stress-responsive gene expression. Plant Cell. 2001;13:2063-83 pubmed..Our results show that LOS5/ABA3 is a key regulator of ABA biosynthesis, stress-responsive gene expression, and stress tolerance. ..
- Camenisch T, Schroeder J, Bradley J, Klewer S, McDonald J. Heart-valve mesenchyme formation is dependent on hyaluronan-augmented activation of ErbB2-ErbB3 receptors. Nat Med. 2002;8:850-5 pubmed..These data provide a link between extracellular matrix-hyaluronan and ErbB receptor activation during development of early heart-valve and septal mesenchyme. ..
- Martinez F. Respiratory syncytial virus bronchiolitis and the pathogenesis of childhood asthma. Pediatr Infect Dis J. 2003;22:S76-82 pubmed..It is likely, however, that strategies for the prevention of RSV infection may play a role in the prevention of the subsequent development of persistent wheezing and asthma-like symptoms in childhood...
- Small E, Warkman A, Wang D, Sutherland L, Olson E, Krieg P. Myocardin is sufficient and necessary for cardiac gene expression in Xenopus. Development. 2005;132:987-97 pubmed..We conclude that myocardin is an essential component of the regulatory pathway for myocardial differentiation. ..
- Marmorstein L, Wu J, McLaughlin P, Yocom J, Karl M, Neussert R, et al. The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). J Gen Physiol. 2006;127:577-89 pubmed..Furthermore, we suggest that the loss of vision associated with BMD is not caused by the same pathologic process as the diminished LP, but rather is caused by as yet unidentified effects of best-1 on other cellular processes. ..
- Junk D, Vrba L, Watts G, Oshiro M, Martinez J, Futscher B. Different mutant/wild-type p53 combinations cause a spectrum of increased invasive potential in nonmalignant immortalized human mammary epithelial cells. Neoplasia. 2008;10:450-61 pubmed..These changes may constitute novel biomarkers or reveal novel treatment modalities that could inhibit progression from primary to metastatic breast disease. ..
- Morse D, Carroll D, Day S, Gray H, Sadarangani P, Murthi S, et al. Characterization of breast cancers and therapy response by MRS and quantitative gene expression profiling in the choline pathway. NMR Biomed. 2009;22:114-27 pubmed publisher..Gene expression changes following taxane therapy are also reported and are consistent with previously reported changes in choline metabolites after the same therapy in the same tumor model. ..
- Bousquet J, Gern J, Martinez F, Anto J, Johnson C, Holt P, et al. Birth cohorts in asthma and allergic diseases: report of a NIAID/NHLBI/MeDALL joint workshop. J Allergy Clin Immunol. 2014;133:1535-46 pubmed publisher..eu), where the reader will find tables describing the characteristics of the birth cohorts included in this report, the type of data collected at differing ages, and a selected bibliography provided by the participating birth cohorts. ..
- Azpiroz R, Wu Y, LoCascio J, Feldmann K. An Arabidopsis brassinosteroid-dependent mutant is blocked in cell elongation. Plant Cell. 1998;10:219-30 pubmed..Therefore, an intact brassinosteroid system is an absolute requirement for cell elongation. ..
- van Hoof A, Lennertz P, Parker R. Yeast exosome mutants accumulate 3'-extended polyadenylated forms of U4 small nuclear RNA and small nucleolar RNAs. Mol Cell Biol. 2000;20:441-52 pubmed..This finding suggests that the cytoplasmic and nuclear forms of the exosome represent two functionally different complexes involved in distinct 3'-to-5' processing and degradation reactions. ..
- He W, Parker R. The yeast cytoplasmic LsmI/Pat1p complex protects mRNA 3' termini from partial degradation. Genetics. 2001;158:1445-55 pubmed
- Eder W, Klimecki W, Yu L, von Mutius E, Riedler J, Braun Fahrlander C, et al. Toll-like receptor 2 as a major gene for asthma in children of European farmers. J Allergy Clin Immunol. 2004;113:482-8 pubmed..Our results suggest that genetic variation in TLR2 is a major determinant of the susceptibility to asthma and allergies in children of farmers. ..
- Xiong L, Lee H, Huang R, Zhu J. A single amino acid substitution in the Arabidopsis FIERY1/HOS2 protein confers cold signaling specificity and lithium tolerance. Plant J. 2004;40:536-45 pubmed
- Clarke J, Cherrington N. Genetics or environment in drug transport: the case of organic anion transporting polypeptides and adverse drug reactions. Expert Opin Drug Metab Toxicol. 2012;8:349-60 pubmed publisher..To date, most research has focused on the genetic factors in OATP-mediated ADRs while the impact of environmental factors has largely been ignored. ..
- Bartels P, Bartels H, Alberts D, Yozwiak M, Prasad A, Glazer E, et al. Karyometry of nuclear phenotypes in cutaneous squamous cell cancer. Anal Quant Cytol Histol. 2012;34:1-8 pubmed..The nuclei of the aggressive phenotype I and nonaggressive phenotype II have substantially different chromatin patterns and can be distinguished with > 90% correct recognition rate. ..
- Hernández D, Newton D, Ledeboer N, Buchan B, Young C, Clark A, et al. Multicenter Evaluation of MRSASelect II Chromogenic Agar for Identification of Methicillin-Resistant Staphylococcus aureus from Wound and Nasal Specimens. J Clin Microbiol. 2016;54:305-11 pubmed publisher..MRSASelect II agar is a simple, rapid, and robust method to routinely screen patients for MRSA colonization without the need for additional testing. ..
- Muller Y, Collins J, Ghishan F. Genetic screening for X-linked hypophosphatemic mice and ontogenic characterization of the defect in the renal sodium-phosphate transporter. Pediatr Res. 1998;44:633-8 pubmed..This study demonstrates an easy assay to detect Hyp mutation and characterizes the defect during ontogeny of the Na(+)-Pi transporter in Hyp mice...
- Hagiwara N, Klewer S, Samson R, Erickson D, Lyon M, Brilliant M. Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. Proc Natl Acad Sci U S A. 2000;97:4180-5 pubmed..The p(100H) mutant is thus a useful animal model in the elucidation of myopathies at the molecular level. ..
- Hunter B, Beatty M, Singletary G, Hamaker B, Dilkes B, Larkins B, et al. Maize opaque endosperm mutations create extensive changes in patterns of gene expression. Plant Cell. 2002;14:2591-612 pubmed..Based on global patterns of gene expression, these mutants were categorized in four phenotypic groups as follows: W64A+ and o1; o2; o5/o9/o11; and Mc and fl2. ..
- Newman C, Krieg P. Xenopus bagpipe-related gene, koza, may play a role in regulation of cell proliferation. Dev Dyn. 2002;225:571-80 pubmed..By using ectopic expression, we show that koza transcription is positively regulated by banded hedgehog. This result indicates that regulation of bagpipe expression by hedgehog signaling is evolutionarily conserved. ..
- Silva G, Sherrill D, Guerra S, Barbee R. A longitudinal study of alpha1-antitrypsin phenotypes and decline in FEV1 in a community population. Chest. 2003;123:1435-40 pubmed..We conclude that the data from this longitudinal community study suggest that having the PiMZ phenotype is not a significant risk factor for an accelerated decline in FEV(1). ..
- Dellinger M, Hunter R, Bernas M, Witte M, Erickson R. Chy-3 mice are Vegfc haploinsufficient and exhibit defective dermal superficial to deep lymphatic transition and dermal lymphatic hypoplasia. Dev Dyn. 2007;236:2346-55 pubmed
- Sidorenko L, Dorweiler J, Cigan A, Arteaga Vazquez M, Vyas M, Kermicle J, et al. A dominant mutation in mediator of paramutation2, one of three second-largest subunits of a plant-specific RNA polymerase, disrupts multiple siRNA silencing processes. PLoS Genet. 2009;5:e1000725 pubmed publisher..Dominant mutations in the same domain in E. coli RNA polymerase suggest a model for Mop2-1 dominance: complexes containing Mop2-1 subunits are non-functional and compete with wild-type complexes...
- Lee C, Ng H, Lee Y, Lai L, Lien Y. The role of calbindin-D28k on renal calcium and magnesium handling during treatment with loop and thiazide diuretics. Am J Physiol Renal Physiol. 2016;310:F230-6 pubmed publisher..The lack of upregulation of DCT Ca transport molecules by thiazides in the KO mice indicates that the DCT Ca transport system is critical for Ca conservation by thiazides. ..
- Chen W, Islas Osuna M, Dieckmann C. Suppressor analysis of mutations in the 5'-untranslated region of COB mRNA identifies components of general pathways for mitochondrial mRNA processing and decay in Saccharomyces cerevisiae. Genetics. 1999;151:1315-25 pubmed..We hypothesize that the products of the two uncharacterized genes also affect mitochondrial RNA turnover. ..
- Lee H, Xiong L, Gong Z, Ishitani M, Stevenson B, Zhu J. The Arabidopsis HOS1 gene negatively regulates cold signal transduction and encodes a RING finger protein that displays cold-regulated nucleo--cytoplasmic partitioning. Genes Dev. 2001;15:912-24 pubmed..However, in response to low temperature treatments, HOS1 accumulates in the nucleus. Ectopic expression of HOS1 in wild-type plants causes cosuppression of HOS1 expression and mimics the hos1 mutant phenotypes. ..
- Hilleren P, Parker R. Defects in the mRNA export factors Rat7p, Gle1p, Mex67p, and Rat8p cause hyperadenylation during 3'-end formation of nascent transcripts. RNA. 2001;7:753-64 pubmed..These observations provide further support for the view that mRNA 3'-end formation and mRNA export are mechanistically coupled events. ..
- Xiong L, Lee H, Ishitani M, Zhu J. Regulation of osmotic stress-responsive gene expression by the LOS6/ABA1 locus in Arabidopsis. J Biol Chem. 2002;277:8588-96 pubmed..These results suggest that the level of gene induction by osmotic stress is dependent on the dosage of the zeaxanthin epoxidase enzyme. ..
- Hsieh J, Sisk J, Jurutka P, Haussler C, Slater S, Haussler M, et al. Physical and functional interaction between the vitamin D receptor and hairless corepressor, two proteins required for hair cycling. J Biol Chem. 2003;278:38665-74 pubmed
- Larkindale J, Hall J, Knight M, Vierling E. Heat stress phenotypes of Arabidopsis mutants implicate multiple signaling pathways in the acquisition of thermotolerance. Plant Physiol. 2005;138:882-97 pubmed
- ..Here, we review both literatures, and show that the true distinction is whether recombination rates are high or low. In both cases, the evidence supports the claim that robustness promotes evolvability. ..
- Bueschel D, Jost B, Billington S, Trinh H, Songer J. Prevalence of cpb2, encoding beta2 toxin, in Clostridium perfringens field isolates: correlation of genotype with phenotype. Vet Microbiol. 2003;94:121-9 pubmed..However, it may be important to consider the use of an additional method for the detection of beta2 toxin in non-porcine cpb2-positive isolates when making claims about the role of beta2 in enteritis in non-porcine species. ..
- Jimenez Andrade J, Mantyh W, Bloom A, Xu H, Ferng A, Dussor G, et al. A phenotypically restricted set of primary afferent nerve fibers innervate the bone versus skin: therapeutic opportunity for treating skeletal pain. Bone. 2010;46:306-13 pubmed publisher..Thus, therapies that target the specific types of C-nerve fibers that innervate the bone may be uniquely effective in attenuating skeletal pain as compared to skin pain...
- Kim M, Lee U, Small I, des Francs Small C, Vierling E. Mutations in an Arabidopsis mitochondrial transcription termination factor-related protein enhance thermotolerance in the absence of the major molecular chaperone HSP101. Plant Cell. 2012;24:3349-65 pubmed..The heat tolerance of shot1 emphasizes the importance of mitochondria in stress tolerance, and defining its function may provide insights into control of oxidative damage for engineering stress-resistant plants. ..
- Marazzi B, Conti E, Sanderson M, McMahon M, Bronstein J. Diversity and evolution of a trait mediating ant-plant interactions: insights from extrafloral nectaries in Senna (Leguminosae). Ann Bot. 2013;111:1263-75 pubmed publisher..In this study the evolution of EFN diversity is explored by focusing on the legume genus Senna, in which EFNs underwent remarkable morphological diversification and occur in over 80 % of the approx. 350 species...
- Sandrock T, Brower S, Toenjes K, Adams A. Suppressor analysis of fimbrin (Sac6p) overexpression in yeast. Genetics. 1999;151:1287-97 pubmed
- Halonen M, Stern D, Lohman C, Wright A, Brown M, Martinez F. Two subphenotypes of childhood asthma that differ in maternal and paternal influences on asthma risk. Am J Respir Crit Care Med. 1999;160:564-70 pubmed..Thus, dividing asthma in children at age 6 into Alternaria-positive and Alternaria-negative groups identifies subphenotypes that are further distinguished by differences in phenotypic markers and parental influences. ..
- Liu Z, Hong S, Escobar M, Vierling E, Mitchell D, Mount D, et al. Arabidopsis UVH6, a homolog of human XPD and yeast RAD3 DNA repair genes, functions in DNA repair and is essential for plant growth. Plant Physiol. 2003;132:1405-14 pubmed..Thus, homozygous insertions appear to be lethal. We conclude that the UVH6/AtXPD gene is required for UV resistance and is an essential gene in Arabidopsis. ..
- Garver W, Jelinek D, Meaney F, Flynn J, Pettit K, Shepherd G, et al. The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res. 2010;51:406-15 pubmed publisher..Together, these findings provide novel information regarding the plasma lipoprotein changes and mutations in NPC1 disease, and suggest plasma HDL-C represents a potential biomarker of NPC1 disease severity...
- Campbell P, Good J, Dean M, Tucker P, Nachman M. The contribution of the Y chromosome to hybrid male sterility in house mice. Genetics. 2012;191:1271-81 pubmed publisher..m. musculus X that resulted in abnormal sperm morphology. Therefore, although F1 male sterility appears to be caused mainly by X-autosome incompatibilities, X-Y incompatibilities contribute to some aspects of sterility. ..
- Jung S, Rohan T, Strickler H, Bea J, Zhang Z, Ho G, et al. Genetic variants and traits related to insulin-like growth factor-I and insulin resistance and their interaction with lifestyles on postmenopausal colorectal cancer risk. PLoS ONE. 2017;12:e0186296 pubmed publisher..Unraveling gene-phenotype-lifestyle interactions will provide data on potential genetic targets in clinical trials for cancer prevention and intervention strategies to reduce CRC risk...
- Domann F, Levy J, Birrer M, Bowden G. Stable expression of a c-JUN deletion mutant in two malignant mouse epidermal cell lines blocks tumor formation in nude mice. Cell Growth Differ. 1994;5:9-16 pubmed..c. tumors in nude mice. These results indicate that inhibition of AP-1 mediated transcriptional trans-activation alone can be sufficient to suppress the tumorigenic phenotype in a subset of malignant mouse epidermal cells. ..
- Sandstrom D, Restifo L. Epidermal tendon cells require Broad Complex function for correct attachment of the indirect flight muscles in Drosophila melanogaster. J Cell Sci. 1999;112 ( Pt 22):4051-65 pubmed..By analogy with the cell-cell interaction essential for embryonic muscle attachment, we propose that BRC-Z1 regulates one or more components of the epidermal response to a signal from the developing muscle. ..
- Erickson R, Dagenais S, Caulder M, Downs C, Herman G, Jones M, et al. Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. J Med Genet. 2001;38:761-6 pubmed..FOXC2 mutations are highly penetrant with variable expressivity which is not explicable by the pattern of mutations. ..
- Guo Y, Xiong L, Song C, Gong D, Halfter U, Zhu J. A calcium sensor and its interacting protein kinase are global regulators of abscisic acid signaling in Arabidopsis. Dev Cell. 2002;3:233-44 pubmed..Thus, SCaBP5 and PKS3 are part of a calcium-responsive negative regulatory loop controlling ABA sensitivity. ..
- Hagiwara N, Katarova Z, Siracusa L, Brilliant M. Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in mice. Dev Biol. 2003;254:93-101 pubmed..Based on these observations, we propose that GABA, synthesized by the palatal epithelium, acts as a signaling molecule during orientation and fusion of the palate shelves. ..
- McReynolds M, Taylor Garcia K, Greer K, Hoying J, Brooks H. Renal medullary gene expression in aquaporin-1 null mice. Am J Physiol Renal Physiol. 2005;288:F315-21 pubmed..Thus the loss of the hyperosmotic renal interstitium, due to a loss of the concentrating mechanism, drastically altered not only the phenotype of these animals but also their renal medullary gene expression profile. ..
- Lee U, Wie C, Escobar M, Williams B, Hong S, Vierling E. Genetic analysis reveals domain interactions of Arabidopsis Hsp100/ClpB and cooperation with the small heat shock protein chaperone system. Plant Cell. 2005;17:559-71 pubmed..These results also demonstrate that quantitative phenotypes can be used for in vivo genetic dissection of protein mechanism in Arabidopsis. ..
- Robey I, Lien A, Welsh S, Baggett B, Gillies R. Hypoxia-inducible factor-1alpha and the glycolytic phenotype in tumors. Neoplasia. 2005;7:324-30 pubmed..This hypothesis was tested by renormalizing HIF-1alpha levels in renal carcinoma cells, leading to inhibition of aerobic glycolysis. ..
- Spokony R, Restifo L. Anciently duplicated Broad Complex exons have distinct temporal functions during tissue morphogenesis. Dev Genes Evol. 2007;217:499-513 pubmed publisher..The sequential action of BRC isoforms indicates subfunctionalization of duplicated ZBRC exons even when they contribute to common developmental processes...
- Durbak A, Tax F. CLAVATA signaling pathway receptors of Arabidopsis regulate cell proliferation in fruit organ formation as well as in meristems. Genetics. 2011;189:177-94 pubmed publisher..These results demonstrate the importance of regulating cell proliferation in plants that undergo organogenesis throughout their life cycle. ..
- Bartels P, Garcia F, Trimble C, Kauderer J, Curtin J, Lim P, et al. Karyometry in atypical endometrial hyperplasia: a Gynecologic Oncology Group study. Gynecol Oncol. 2012;125:129-35 pubmed publisher..The percentage of nuclei of the preneoplastic phenotype in AEH esions might serve as criterion for assessment of risk for the development of invasive disease. ..
- Geng X, Cha B, Mahamud M, Lim K, Silasi Mansat R, Uddin M, et al. Multiple mouse models of primary lymphedema exhibit distinct defects in lymphovenous valve development. Dev Biol. 2016;409:218-233 pubmed publisher..In summary, we have provided the first and the most comprehensive analysis of LVV development. Furthermore, our work suggests that aberrant LVVs contribute to lymphedema. ..
- Brabant M, Brower D. PS2 integrin requirements in Drosophila embryo and wing morphogenesis. Dev Biol. 1993;157:49-59 pubmed..By varying times of transgene induction, we find that integrin function is required from very early in metamorphosis until at least the last 24-48 hr of wing development. ..
- Baruch A, Erickson R. Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8). Am J Med Genet. 2001;100:187-90 pubmed..We compare them to previously described cases and a recently proposed syndrome of ARA, atrial septal defect, and sensorineural deafness...
- Jannuzi A, Bunch T, Brabant M, Miller S, Mukai L, Zavortink M, et al. Disruption of C-terminal cytoplasmic domain of betaPS integrin subunit has dominant negative properties in developing Drosophila. Mol Biol Cell. 2002;13:1352-65 pubmed..The results are discussed with respect to similar vertebrate beta subunit cytoplasmic mutations. ..
- Wlasiuk G, Nachman M. The genetics of adaptive coat color in gophers: coding variation at Mc1r is not responsible for dorsal color differences. J Hered. 2007;98:567-74 pubmed..bottae. These results demonstrate that similar phenotypic variation may have a different genetic basis among different mammalian species...
- Bauer C, Epstein A, Sweeney S, Zarnescu D, Bosco G. Genetic and systems level analysis of Drosophila sticky/citron kinase and dFmr1 mutants reveals common regulation of genetic networks. BMC Syst Biol. 2008;2:101 pubmed publisher..As both of these genes are implicated in the development and function of the mammalian brain, these results have relevance to human health as well as to understanding more general biological processes. ..
- Jandova J, Janda J, Sligh J. Changes in mitochondrial DNA alter expression of nuclear encoded genes associated with tumorigenesis. Exp Cell Res. 2012;318:2215-25 pubmed publisher..Enhanced migration and invasion abilities caused by up-regulated MMP-9 may contribute to the tumorigenic phenotypic characteristics of mutant cybrids. ..
- Munger S, Geng X, Srinivasan R, Witte M, Paul D, Simon A. Segregated Foxc2, NFATc1 and Connexin expression at normal developing venous valves, and Connexin-specific differences in the valve phenotypes of Cx37, Cx43, and Cx47 knockout mice. Dev Biol. 2016;412:173-90 pubmed publisher..The partition of Foxc2 and NFATc1 expression at VV leaflets makes it unlikely that these factors directly cooperate during the leaflet elongation stage of VV development. ..
- Anderson J, Parker R. The 3' to 5' degradation of yeast mRNAs is a general mechanism for mRNA turnover that requires the SKI2 DEVH box protein and 3' to 5' exonucleases of the exosome complex. EMBO J. 1998;17:1497-506 pubmed..These observations argue that efficient mRNA turnover is required for viability and that we have identified the two major pathways of mRNA decay in yeast. ..
- Schmelz M, Cress A, Scott K, Bürger F, Cui H, Sallam K, et al. Different phenotypes in human prostate cancer: alpha6 or alpha3 integrin in cell-extracellular adhesion sites. Neoplasia. 2002;4:243-54 pubmed..Three tumor phenotypes associated with two different adhesion complexes were identified, suggesting a reorganization of cell adhesion structures in prostate cancer. ..
- Lopez M, Huang D, Watson R. Changes in mesenteric lymph node T cell phenotype and B and T cell homing properties after murine AIDS infection. Lymphology. 2002;35:76-86 pubmed..These data indicate that murine AIDS infection altered the mucosal immune system while modifying MLN T cell phenotype and MLN T and B cells migratory properties...
- Nonn L, Williams R, Erickson R, Powis G. The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. Mol Cell Biol. 2003;23:916-22 pubmed..These results show that the mitochondrial redox protein Trx-2 is required for normal development of the mouse embryo and for actively respiring cells. ..
- Kraft R, Escobar M, Narro M, Kurtis J, Efrat A, Barnard K, et al. Phenotypes of Drosophila brain neurons in primary culture reveal a role for fascin in neurite shape and trajectory. J Neurosci. 2006;26:8734-47 pubmed..This will facilitate detection of genetic and pharmacological modifiers of neuronal defects resulting from fascin deficiency. ..
- Margolis D, Szivek J, Lai L, Lien Y. Phenotypic characteristics of bone in carbonic anhydrase II-deficient mice. Calcif Tissue Int. 2008;82:66-76 pubmed publisher..The metaphyseal widening and changes in the trabecular bone are consistent with osteopetrosis, making the CAII-deficient mouse a valuable model of human disease. ..
- Valenzuela R, Henderson M, Walsh M, Garrison N, Kelch J, Cohen Barak O, et al. Predicting phenotype from genotype: normal pigmentation. J Forensic Sci. 2010;55:315-22 pubmed publisher..Thus, these models may be of predictive value to determine an individual's pigmentation type from a forensic sample, independent of ethnic origin. ..
- Hurwitz B, Kudrna D, Yu Y, Sebastian A, Zuccolo A, Jackson S, et al. Rice structural variation: a comparative analysis of structural variation between rice and three of its closest relatives in the genus Oryza. Plant J. 2010;63:990-1003 pubmed publisher..This catalog of confirmed SV in reference to O. sativa provides an entry point for future research in genome evolution, speciation, domestication and novel gene discovery. ..
- Brower D, Jaffe S. Requirement for integrins during Drosophila wing development. Nature. 1989;342:285-7 pubmed..Also, we conclude that the integrins are not necessary for the maintenance of the cell lineage restriction between the two presumptive wing surfaces in the developing imaginal disc. ..
- Choe S, Dilkes B, Fujioka S, Takatsuto S, Sakurai A, Feldmann K. The DWF4 gene of Arabidopsis encodes a cytochrome P450 that mediates multiple 22alpha-hydroxylation steps in brassinosteroid biosynthesis. Plant Cell. 1998;10:231-43 pubmed..In fact, feeding studies utilizing BR intermediates showed that only 22alpha-hydroxylated BRs rescued the dwf4 phenotype, confirming that DWF4 acts as a 22alpha-hydroxylase. ..
- Hong S, Vierling E. Mutants of Arabidopsis thaliana defective in the acquisition of tolerance to high temperature stress. Proc Natl Acad Sci U S A. 2000;97:4392-7 pubmed..The phenotype of hot1 also provides direct evidence that Hsp101, which is required for thermotolerance in bacteria and yeast, is also essential for thermotolerance in a complex eukaryote. ..
- Nakato H, Fox B, Selleck S. dally, a Drosophila member of the glypican family of integral membrane proteoglycans, affects cell cycle progression and morphogenesis via a Cyclin A-mediated process. J Cell Sci. 2002;115:123-30 pubmed