Genomes and Genes
Experts and Doctors on phenotype in United States
Locale: United States
Publications784 found, 100 shown here
- Miller J, Cunningham D, Lyle V, Finch C. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci U S A. 1991;88:4761-5 pubmed
- Luo Y, Hara H, Haruta Y, Seon B. Establishment of ascitic tumor of human pre-B acute lymphoblastic leukemia in nonconditioned nude mice. Cancer Res. 1989;49:706-10 pubmed
- Zuscik M, Chalothorn D, Hellard D, Deighan C, McGee A, Daly C, et al. Hypotension, autonomic failure, and cardiac hypertrophy in transgenic mice overexpressing the alpha 1B-adrenergic receptor. J Biol Chem. 2001;276:13738-43 pubmed..These results also suggest that this receptor subtype is not involved in the classic vasoconstrictory action of alpha(1)ARs that is important in systemic regulation of blood pressure. ..
- Gerk P, Vore M. Regulation of expression of the multidrug resistance-associated protein 2 (MRP2) and its role in drug disposition. J Pharmacol Exp Ther. 2002;302:407-15 pubmed..MRP2 is important clinically as it modulates the pharmacokinetics of many drugs, and its expression and activity are also altered by certain drugs and disease states. ..
- Tester D, Will M, Haglund C, Ackerman M. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005;2:507-17 pubmed..These observations should facilitate diagnostic interpretation of the clinical genetic test for LQTS. ..
- Abdul Rahman O, La T, Kwan A, Schlaubitz S, Barsh G, Enns G, et al. Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. Am J Med Genet A. 2006;140:1567-72 pubmed..Since both LMX1B and TBX4 are involved in a common molecular pathway, it is likely that the causative gene of genitopatellar syndrome functions within the same developmental process. ..
- Boughman J. Condition-dependent expression of red colour differs between stickleback species. J Evol Biol. 2007;20:1577-90 pubmed..These results show that differences between these species in the action of sexual selection underlie their sexual isolation...
- Ohse T, Vaughan M, Kopp J, Krofft R, Marshall C, Chang A, et al. De novo expression of podocyte proteins in parietal epithelial cells during experimental glomerular disease. Am J Physiol Renal Physiol. 2010;298:F702-11 pubmed publisher..These results are consistent with glomerular cells coexpressing podocyte and PEC proteins in experimental glomerular disease, but not under normal circumstances. ..
- Westphal M, Morgan T. Quantitative genetics of pigmentation development in 2 populations of the common garter snake, Thamnophis sirtalis. J Hered. 2010;101:573-80 pubmed publisher..We suggest that developmental timing may be a potential explanatory mechanism for the difference between the populations...
- Nigg J. Future directions in ADHD etiology research. J Clin Child Adolesc Psychol. 2012;41:524-33 pubmed publisher..Overall, the coming decades of etiology research on ADHD will be expected to capitalize on new scientific tools. The hope in the field is that new insights into fundamental prevention can emerge...
- Meyer B, Kuehl J, Deutschbauer A, Price M, Arkin A, Stahl D. Variation among Desulfovibrio species in electron transfer systems used for syntrophic growth. J Bacteriol. 2013;195:990-1004 pubmed publisher..This study further demonstrates the absence of a conserved gene core in Desulfovibrio that would determine the ability for a syntrophic lifestyle. ..
- Montano M, Desjardins C, Doughman Y, Hsieh Y, Hu Y, Bensinger H, et al. Inducible re-expression of HEXIM1 causes physiological cardiac hypertrophy in the adult mouse. Cardiovasc Res. 2013;99:74-82 pubmed publisher..HEXIM1 re-expression results in the induction of angiogenesis that allows for the co-ordination of tissue growth and angiogenesis during physiological hypertrophy. ..
- Wang C, Guan X, Wang H, Li G, Dong X, Wang G, et al. Agrobacterium tumefaciens-mediated transformation of Valsa mali: an efficient tool for random insertion mutagenesis. ScientificWorldJournal. 2013;2013:968432 pubmed publisher..The results suggest that ATMT of V. mali is a useful tool to gain novel insight into this economically important pathogen at molecular levels. ..
- McIntyre J, Edmunds R, Redig M, Mudrock E, Davis J, Incardona J, et al. Confirmation of Stormwater Bioretention Treatment Effectiveness Using Molecular Indicators of Cardiovascular Toxicity in Developing Fish. Environ Sci Technol. 2016;50:1561-9 pubmed publisher..Molecular markers were more sensitive than visible toxicity indicators, and several cardiac-related genes show promise as novel tools for evaluating the effectiveness of evolving stormwater mitigation strategies. ..
- Wilson N, Olm Shipman A, Acevedo D, Palaniyandi K, Hall E, Kosa E, et al. SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination. Sci Rep. 2016;6:17735 pubmed publisher..Together, these data indicate SPECC1L as a novel modulator of PI3K-AKT signaling and AJ biology, required for neural tube closure and CNCC delamination. ..
- Wheeler E, Leong A, Liu C, Hivert M, Strawbridge R, Podmore C, et al. Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. PLoS Med. 2017;14:e1002383 pubmed publisher..Screening with direct glucose measurements, or genetically-informed HbA1c diagnostic thresholds in people with G6PD deficiency, may be required to avoid missed or delayed diagnoses. ..
- Oh W, Westmoreland J, Summers R, Condie B. Cleft palate is caused by CNS dysfunction in Gad1 and Viaat knockout mice. PLoS ONE. 2010;5:e9758 pubmed publisher..We suggest that the alterations in GABA signaling lead to non-neural defects such as cleft palate as a secondary effect due to alterations in or elimination of fetal movements. ..
- Stepp J, Huang K, Lemmon S. The yeast adaptor protein complex, AP-3, is essential for the efficient delivery of alkaline phosphatase by the alternate pathway to the vacuole. J Cell Biol. 1997;139:1761-74 pubmed..We suggest that some AP-3-dependent cargo proteins that regulate late steps in Golgi to vacuole transport are diverted into the Vps pathway allowing completion of transfer to the vacuole in the class E vps mutant. ..
- Zori R, Gardner J, Zhang J, Mullan M, Shah R, Osborn A, et al. Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome. Am J Med Genet. 1998;78:450-4 pubmed..Linkage analysis with polymorphic DNA markers maps the disease locus in this unique family to the long arm of the human X chromosome between DXS1220 and DXS1205 in Xq23-27...
- Whitham S, Anderberg R, Chisholm S, Carrington J. Arabidopsis RTM2 gene is necessary for specific restriction of tobacco etch virus and encodes an unusual small heat shock-like protein. Plant Cell. 2000;12:569-82 pubmed..The RTM2 gene product was also shown to contain a large C-terminal region with multiple repeating sequences. ..
- Chang C, Hopper N, Sternberg P. Caenorhabditis elegans SOS-1 is necessary for multiple RAS-mediated developmental signals. EMBO J. 2000;19:3283-94 pubmed..This SOS-1-independent signaling is not inhibited by SLI-1/Cbl and is not mediated by PTP-2/SHP, raising the possibility that there could be another RasGEF...
- Nishiwaki E, Turner S, Harju S, Miyazaki S, Kashiwagi M, Koh J, et al. Regulation of CDK7-carboxyl-terminal domain kinase activity by the tumor suppressor p16(INK4A) contributes to cell cycle regulation. Mol Cell Biol. 2000;20:7726-34 pubmed..Regulation of CDK7-CTD kinase activity by p16(INK4A) thus may represent an alternative pathway for controlling cell cycle progression. ..
- Habecker B, Klein M, Sundgren N, Li W, Woodward W. Developmental regulation of neurotransmitter phenotype through tetrahydrobiopterin. J Neurosci. 2002;22:9445-52 pubmed..These data also indicate that GCH expression, which is often coordinately regulated with TH expression, can be controlled independently of TH during development...
- He Y, Michaels S, Amasino R. Regulation of flowering time by histone acetylation in Arabidopsis. Science. 2003;302:1751-4 pubmed..However, not all autonomous-pathway mutants exhibit FLC hyperacetylation, indicating that multiple means exist by which this pathway represses FLC expression. ..
- Jakovcevski I, Zecevic N. Sequence of oligodendrocyte development in the human fetal telencephalon. Glia. 2005;49:480-91 pubmed..Overall, in addition to considerable similarities with rodents, important differences in temporal and spatial distribution and regulatory signals for OL differentiation exist in the human brain. ..
- Wang M, Bohmann D, Jasper H. JNK extends life span and limits growth by antagonizing cellular and organism-wide responses to insulin signaling. Cell. 2005;121:115-25 pubmed..The convergence of JNK signaling and IIS on Foxo provides a model to explain the effects of stress and nutrition on longevity. ..
- Hester M, Thompson J, Mills J, Liu Y, El Hodiri H, Weinstein M. Smad1 and Smad8 function similarly in mammalian central nervous system development. Mol Cell Biol. 2005;25:4683-92 pubmed..5. These observations suggest that BMP-responsive Smads have critical functions in the development of the mammalian central nervous system. ..
- Slattery M, Liko D, Heideman W. The function and properties of the Azf1 transcriptional regulator change with growth conditions in Saccharomyces cerevisiae. Eukaryot Cell. 2006;5:313-20 pubmed..Glucose produces conditions that destabilize the Azf1 protein, a finding that may reflect a glucose-induced change in Azf1 tertiary or quaternary structure. ..
- Hatch N, Hudson M, Seto M, Cunningham M, Bothwell M. Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. J Biol Chem. 2006;281:27292-305 pubmed
- Mack J, Beljanski V, Soulika A, Townsend D, Brown C, Davis W, et al. "Skittish" Abca2 knockout mice display tremor, hyperactivity, and abnormal myelin ultrastructure in the central nervous system. Mol Cell Biol. 2007;27:44-53 pubmed..Loss of ABCA2 function in vivo resulted in abnormal myelin compaction in spinal cord and cerebrum, an ultrastructural defect that we propose to be the cause of the phenotypic tremor...
- Weibel D, DiLuzio W, Whitesides G. Microfabrication meets microbiology. Nat Rev Microbiol. 2007;5:209-18 pubmed
- Catalano P, Thomas A, Huston Presley L, Amini S. Phenotype of infants of mothers with gestational diabetes. Diabetes Care. 2007;30 Suppl 2:S156-60 pubmed
- Zitzer Comfort C, Doyle T, Masataka N, Korenberg J, Bellugi U. Nature and nurture: Williams syndrome across cultures. Dev Sci. 2007;10:755-62 pubmed..This is an intriguing illustration of interactions between nature and nurture. ..
- Flores G, Liu Y, Ferrera I, Beveridge T, Reysenbach A. Sulfurihydrogenibium kristjanssonii sp. nov., a hydrogen- and sulfur-oxidizing thermophile isolated from a terrestrial Icelandic hot spring. Int J Syst Evol Microbiol. 2008;58:1153-8 pubmed publisher..nov. is proposed. The type strain is I6628T (=DSM 19534T =OCM 901T =ATCC BAA-1535T). ..
- Frye J, Fedorka Cray P, Jackson C, Rose M. Analysis of Salmonella enterica with reduced susceptibility to the third-generation cephalosporin ceftriaxone isolated from U.S. cattle during 2000-2004. Microb Drug Resist. 2008;14:251-8 pubmed publisher..These data indicate that bovine Salmonella isolates from the United States with decreased susceptibility or resistance to ceftriaxone do not exhibit an ESBL phenotype and most contain the bla(CMY-2) gene. ..
- McBride K, Varga E, Pastore M, Prior T, Manickam K, Atkin J, et al. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism Res. 2010;3:137-41 pubmed publisher..We recommend testing for mutations in PTEN for individuals with ASD or MR/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a PTEN mutation. ..
- Lencioni K, Drivdahl R, Seamons A, Treuting P, Brabb T, Maggio Price L. Lack of effect of murine norovirus infection on a mouse model of bacteria-induced colon cancer. Comp Med. 2011;61:219-26 pubmed..In addition, MNV infection alone did not result in IBD or colon cancer. Therefore MNV infection alone or in conjunction with Helicobacter does not alter the development or progression of IBD or colon cancer in Smad3(-/-) mice. ..
- Anton K, Ward J, Cruzan M. Pollinator-mediated selection on floral morphology: evidence for transgressive evolution in a derived hybrid lineage. J Evol Biol. 2013;26:660-73 pubmed publisher..However, the potential for extreme transgressive variants to contribute to phenotypic shifts may be limited due to reduced heritability, evolutionary constraints or fitness trade-offs...
- Wang Y, Acharya A, Burrell A, Klein R, Klein P, Hasenstein K. Mapping and candidate genes associated with saccharification yield in sorghum. Genome. 2013;56:659-65 pubmed publisher..The identified loci and candidate genes provide information into the factors controlling saccharification yield and may facilitate increasing biofuel production in sorghum. ..
- Nothwehr S, Bruinsma P, Strawn L. Distinct domains within Vps35p mediate the retrieval of two different cargo proteins from the yeast prevacuolar/endosomal compartment. Mol Biol Cell. 1999;10:875-90 pubmed..These data suggest a model in which distinct structural features within Vps35p are required for associating with the cytosolic domains of each cargo protein during the retrieval process. ..
- Coste S, Murray S, Stenzel Poore M. Animal models of CRH excess and CRH receptor deficiency display altered adaptations to stress. Peptides. 2001;22:733-41 pubmed..Together these models provide new insights into the role of CRH pathways in promoting stability through adaptive changes, a process known as allostasis. ..
- Ling K, Haynes W, Oesterle L, Kung C, Preston R, Saimi Y. K(+)-channel transgenes reduce K(+) currents in Paramecium, probably by a post-translational mechanism. Genetics. 2001;159:987-95 pubmed..The complexity of behavioral changes, possible mechanisms, and implications in Paramecium biology are discussed. ..
- Zhu C, Perry S. Control of expression and autoregulation of AGL15, a member of the MADS-box family. Plant J. 2005;41:583-94 pubmed..This feedback loop is at least in part due to direct regulation, as assessed by in vivo and in vitro binding of AGL15 to its own regulatory regions and by site-directed mutagenesis studies. ..
- Cowles K, Cowles C, Richards G, Martens E, Goodrich Blair H. The global regulator Lrp contributes to mutualism, pathogenesis and phenotypic variation in the bacterium Xenorhabdus nematophila. Cell Microbiol. 2007;9:1311-23 pubmed..Finally, we demonstrate that Lrp influences aspects of X. nematophila phenotypic variation, a spontaneous process that occurs during prolonged growth in stationary phase...
- Miller C, Page McCaw A, Broihier H. Matrix metalloproteinases promote motor axon fasciculation in the Drosophila embryo. Development. 2008;135:95-109 pubmed..These data demonstrate that MMP activity is essential for embryonic motor axon fasciculation. ..
- Liu X, Popescu I, Denisova J, Neve R, Corriveau R, Belousov A. Regulation of cholinergic phenotype in developing neurons. J Neurophysiol. 2008;99:2443-55 pubmed publisher..The results suggest that developing neurons may not only coexpress multiple transmitter phenotypes, but can also change the phenotypes following changes in signaling in neuronal circuits. ..
- Hahn J, Kramer N, Briley K, Dubnau D. McsA and B mediate the delocalization of competence proteins from the cell poles of Bacillus subtilis. Mol Microbiol. 2009;72:202-15 pubmed publisher..The kinetics of this dynamic process differs for individual Com proteins, with the DNA-binding proteins SsbB and DprA exhibiting less net localization...
- Hueston J, Suprenant K. Loss of dystrophin and the microtubule-binding protein ELP-1 causes progressive paralysis and death of adult C. elegans. Dev Dyn. 2009;238:1878-86 pubmed publisher..Worms fill with vesicles, become flaccid, and die. We conclude that ELP-1 is a genetic modifier of a C. elegans model of muscular dystrophy. ..
- Di Stilio V, Kumar R, Oddone A, Tolkin T, Salles P, McCarty K. Virus-induced gene silencing as a tool for comparative functional studies in Thalictrum. PLoS ONE. 2010;5:e12064 pubmed publisher..The evidence presented on floral silencing of orthologs of the marker gene PDS and the floral homeotic gene AG will enable a comparative approach to the study of the evolution of flower development in this group...
- Vishnoi N, Flaherty K, Hancock L, Ferreira M, Amin A, Prochasson P. Separation-of-function mutation in HPC2, a member of the HIR complex in S. cerevisiae, results in derepression of the histone genes but does not confer cryptic TATA phenotypes. Biochim Biophys Acta. 2011;1809:557-66 pubmed publisher..This is the first direct demonstration that a separation-of-function mutation exists within the HIR complex. ..
- Lanza A, Alper H. Global strain engineering by mutant transcription factors. Methods Mol Biol. 2011;765:253-74 pubmed publisher..The successes of this approach and details for its implementation and application are described here. ..
- Neto E, Broman A, Keller M, Attie A, Zhang B, Zhu J, et al. Modeling causality for pairs of phenotypes in system genetics. Genetics. 2013;193:1003-13 pubmed publisher..In practice, this is a useful feature since follow-up studies tend to be time consuming and expensive and, hence, it is important for the experimentalist to have causal predictions with low false-positive rates. ..
- Costea I, Mack D, Lemaitre R, Israel D, Marcil V, Ahmad A, et al. Interactions between the dietary polyunsaturated fatty acid ratio and genetic factors determine susceptibility to pediatric Crohn's disease. Gastroenterology. 2014;146:929-31 pubmed publisher..Our findings implicate diet-gene interactions in the pathogenesis of CD. ..
- de Boer P, Crossley R, Rothfield L. Central role for the Escherichia coli minC gene product in two different cell division-inhibition systems. Proc Natl Acad Sci U S A. 1990;87:1129-33 pubmed
- Derry J, Gormally E, Means G, Zhao W, Meindl A, Kelley R, et al. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. firstname.lastname@example.org. Nat Genet. 1999;22:286-90 pubmed
- Gerety S, Wang H, Chen Z, Anderson D. Symmetrical mutant phenotypes of the receptor EphB4 and its specific transmembrane ligand ephrin-B2 in cardiovascular development. Mol Cell. 1999;4:403-14 pubmed..These data indicate that ephrin-B2-EphB4 interactions are intrinsically required in vascular endothelial cells and are consistent with the idea that they mediate bidirectional signaling essential for angiogenesis. ..
- Dharmasiri S, Dharmasiri N, Hellmann H, Estelle M. The RUB/Nedd8 conjugation pathway is required for early development in Arabidopsis. EMBO J. 2003;22:1762-70 pubmed..In addition, we show that RCE1 interacts directly with the RING protein RBX1 and is present in a stable complex with SCF. We propose that RBX1 functions as an E3 for RUB modification of CUL1. ..
- De La Fuente J, Almazan C, Blouin E, Naranjo V, Kocan K. RNA interference screening in ticks for identification of protective antigens. Parasitol Res. 2005;96:137-41 pubmed
- Ahn J, Nowell S, McCann S, Yu J, Carter L, Lang N, et al. Associations between catalase phenotype and genotype: modification by epidemiologic factors. Cancer Epidemiol Biomarkers Prev. 2006;15:1217-22 pubmed..Associations between genotype and phenotype were modified by dietary factors, illustrating the biochemical complexity of studies of genetic polymorphisms and disease risk. ..
- Holeski L. Within and between generation phenotypic plasticity in trichome density of Mimulus guttatus. J Evol Biol. 2007;20:2092-100 pubmed..Despite the clear evolutionary importance of variation in constitutive and induced herbivory-resistance traits, few other studies have noted genetic variation in both within a plant species...
- Orloff M, Eng C. Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Oncogene. 2008;27:5387-97 pubmed publisher..The characterization of PTEN and PTEN-related pathways from a multidisciplinary perspective underscores the importance of incorporating data from different -omics, which is crucial for the advancement of personalized medicine. ..
- Hanson K, Kim S, Wassarman D, Tibbetts R. Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS). J Biol Chem. 2010;285:11068-72 pubmed publisher..Our findings demonstrate that TDP-43 exerts cell-autonomous neurotoxicity in Drosophila and further imply that dose-dependent alterations of TDP-43 nuclear function may underlie motor neuron death in ALS. ..
- Frankel N, Erezyilmaz D, McGregor A, Wang S, Payre F, Stern D. Morphological evolution caused by many subtle-effect substitutions in regulatory DNA. Nature. 2011;474:598-603 pubmed publisher..These data provide unprecedented resolution of the phenotypic effects of substitutions and show how individual nucleotide changes in a transcriptional enhancer have caused morphological evolution. ..
- Isidor B, KÃ¼ry S, Rosenfeld J, Besnard T, Schmitt S, Joss S, et al. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Hum Mutat. 2016;37:354-8 pubmed publisher..These data suggest a pathogenic mechanism of the CHAMP1-associated intellectual disability syndrome mediated by direct interacting partners of CHAMP1, several of which are involved in chromo/kinetochore-related disorders. ..
- Carpenter A, Becknell M, Ching C, Cuaresma E, Chen X, Hains D, et al. Uroplakin 1b is critical in urinary tract development and urothelial differentiation and homeostasis. Kidney Int. 2016;89:612-24 pubmed publisher..Furthermore, Upk1b plays a previously unknown role in early kidney development representing a novel genetic target for congenital anomalies of the kidney and urinary tract. ..
- Barlowe C, Appling D. Molecular genetic analysis of Saccharomyces cerevisiae C1-tetrahydrofolate synthase mutants reveals a noncatalytic function of the ADE3 gene product and an additional folate-dependent enzyme. Mol Cell Biol. 1990;10:5679-87 pubmed
- Kim Y, Francisco L, Chen G, Marcotte E, Chan C. Control of cellular morphogenesis by the Ip12/Bem2 GTPase-activating protein: possible role of protein phosphorylation. J Cell Biol. 1994;127:1381-94 pubmed..These genetic interactions together suggest that protein phosphorylation and dephosphorylation play an important role in the BEM2-mediated process of polarized cell growth. ..
- Hurd D, Saxton W. Kinesin mutations cause motor neuron disease phenotypes by disrupting fast axonal transport in Drosophila. Genetics. 1996;144:1075-85 pubmed..These phenotypes parallel the pathologies of some vertebrate motor neuron diseases, including some forms of amyotrophic lateral sclerosis (ALS), and suggest that impaired fast axonal transport is a key element in these diseases. ..
- Kuster J, Guarnieri M, Ault J, Flaherty L, Swiatek P. IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa. Mamm Genome. 1997;8:673-81 pubmed..These findings suggest a role for laminin-5 in hemidesmosome formation and indicate that the LamB3(IAP) mutant is a useful mouse model for HJEB. ..
- Fonseca M, Escalante Semerena J. Reduction of Cob(III)alamin to Cob(II)alamin in Salmonella enterica serovar typhimurium LT2. J Bacteriol. 2000;182:4304-9 pubmed
- Volpe A, Horowitz H, Grafer C, Jackson S, Berg C. Drosophila rhino encodes a female-specific chromo-domain protein that affects chromosome structure and egg polarity. Genetics. 2001;159:1117-34 pubmed..These functions may involve direct binding of Rhi to chromosomes or may involve indirect effects on pathways controlling these processes. ..
- Roff D, Sokolovska N. Extra-nuclear effects on growth and development in the sand cricket Gryllus firmus. J Evol Biol. 2004;17:663-71 pubmed..This study demonstrates that extra-nuclear effects are important contributors to the phenotypic variation in life history traits of G. firmus...
- Richter L, Flodman P, Barria von Bischhoffshausen F, Burch D, Brown S, Nguyen L, et al. Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). Am J Med Genet A. 2008;146A:833-42 pubmed publisher..The genotype-phenotype correlation of this previously unreported mutation provides evidence that other factors, genetic and/or environmental, may influence the development of cataract as a result of this alteration...
- Chen Y, Carver B, Wang S, Zhang F, Yan L. Genetic loci associated with stem elongation and winter dormancy release in wheat. Theor Appl Genet. 2009;118:881-9 pubmed publisher..Hence, breeders in this area have inadvertently selected this allele, contributing to later stem elongation and more conducive developmental patterns for grain production. ..
- Yu X, Michaels S. The Arabidopsis Paf1c complex component CDC73 participates in the modification of FLOWERING LOCUS C chromatin. Plant Physiol. 2010;153:1074-84 pubmed publisher..g. h3k27me3). ..
- Lisle Gibbs H, Chiucchi J. Deconstructing a complex molecular phenotype: population-level variation in individual venom proteins in Eastern Massasauga Rattlesnakes (Sistrurus c. catenatus). J Mol Evol. 2011;72:383-97 pubmed publisher..Our results identify particular classes of venom proteins and their associated genes as being fruitful targets for future studies of the molecular and functional basis for this complex adaptive phenotype...
- James R, Broihier H. Crimpy inhibits the BMP homolog Gbb in motoneurons to enable proper growth control at the Drosophila neuromuscular junction. Development. 2011;138:3273-86 pubmed publisher..We present a model whereby this inhibition permits the muscle-derived Gbb pool to predominate at the NMJ, thus establishing the retrograde directionality of the pro-growth BMP pathway. ..
- Hall K, Volk Draper L, Flister M, Ran S. New model of macrophage acquisition of the lymphatic endothelial phenotype. PLoS ONE. 2012;7:e31794 pubmed publisher..As such, this model can provide a valuable tool for understanding the LECP and lymphatic biology. ..
- Cowan K, Guilbert T. Pediatric asthma phenotypes. Curr Opin Pediatr. 2012;24:344-51 pubmed publisher..This review will discuss efforts to categorize these children with recurrent wheezing and develop asthma-predictive tools...
- Mojica J, Lee Y, Willis J, Kelly J. Spatially and temporally varying selection on intrapopulation quantitative trait loci for a life history trade-off in Mimulus guttatus. Mol Ecol. 2012;21:3718-28 pubmed publisher..The magnitude and direction of selection fluctuates yearly and on a spatial scale of metres. This study provides direct evidence of balancing selection mechanisms on QTL of an ecologically relevant trait. ..
- Newbern K, Natrajan N, Kim H, Chorich L, Halvorson L, Cameron R, et al. Identification of HESX1 mutations in Kallmann syndrome. Fertil Steril. 2013;99:1831-7 pubmed publisher..No other IHH/KS gene mutations were present. HESX1 mutations may cause KS in addition to more severe phenotypes. Our findings expand the phenotypic spectrum of HESX1 mutations in humans, thereby broadening its role in development. ..
- Nagasawa N, Hibara K, Heppard E, Vander Velden K, Luck S, Beatty M, et al. GIANT EMBRYO encodes CYP78A13, required for proper size balance between embryo and endosperm in rice. Plant J. 2013;75:592-605 pubmed publisher..To fully understand the embryo-endosperm size control, the genetic network of the related genes should be elucidated...
- Lah M, Niranjan T, Srikanth S, Holloway L, Schwartz C, Wang T, et al. A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. Am J Med Genet A. 2016;170A:881-90 pubmed publisher..The syndrome affecting the family shares phenotypic overlap with other syndromes caused by FLNA mutations, but appears to be a distinct phenotype, likely representing a unique genetic syndrome. ..
- Zdanov S, Mandapathil M, Abu Eid R, Adamson Fadeyi S, Wilson W, Qian J, et al. Mutant KRAS Conversion of Conventional T Cells into Regulatory T Cells. Cancer Immunol Res. 2016;4:354-65 pubmed publisher..This has a significant clinical potential, in which targeting KRAS and its downstream signaling pathways could be used as powerful immune modulators in cancer immunotherapy. ..
- Rowe J, Cheah A, Calhoun B. Lipomatous tumors of the breast: A contemporary review. Semin Diagn Pathol. 2017;34:453-461 pubmed publisher..This article will review the spectrum fat-containing tumors of the breast with an emphasis on differential diagnosis and insights from recent molecular studies. ..
- Gammie A, Brizzio V, Rose M. Distinct morphological phenotypes of cell fusion mutants. Mol Biol Cell. 1998;9:1395-410 pubmed..In contrast, Fus2p and Rvs161p appeared to act after vesicle positioning. These findings lead us to propose that cell fusion is mediated in part by the localized release of vesicles containing components essential for cell fusion. ..