Genomes and Genes
Experts and Doctors on phenotype in Boston, Massachusetts, United States
Locale: Boston, Massachusetts, United States
Publications380 found, 100 shown here
- Beglopoulos V, Sun X, Saura C, Lemere C, Kim R, Shen J. Reduced beta-amyloid production and increased inflammatory responses in presenilin conditional knock-out mice. J Biol Chem. 2004;279:46907-14 pubmed
- Pitteloud N, Meysing A, Quinton R, Acierno J, Dwyer A, Plummer L, et al. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol. 2006;254-255:60-9 pubmed
- Zhang X, Li W, Olumi A. Low-dose 12-O-tetradecanoylphorbol-13-acetate enhances tumor necrosis factor related apoptosis-inducing ligand induced apoptosis in prostate cancer cells. Clin Cancer Res. 2007;13:7181-90 pubmed..TPA, when combined with the proapoptotic agent TRAIL, is effective in changing the phenotype of some TRAIL-resistant prostate cancer cells to a TRAIL-sensitive phenotype. ..
- Zhang H, Abraham N, Khan L, Hall D, Fleming J, GOBEL V. Apicobasal domain identities of expanding tubular membranes depend on glycosphingolipid biosynthesis. Nat Cell Biol. 2011;13:1189-201 pubmed publisher..Our findings identify glycosphingolipids, CGT products and obligate membrane lipids, as critical determinants of in vivo polarity and indicate that they sort new components to the expanding apical membrane...
- Maison S, Liu X, Eatock R, Sibley D, Grandy D, Liberman M. Dopaminergic signaling in the cochlea: receptor expression patterns and deletion phenotypes. J Neurosci. 2012;32:344-55 pubmed publisher..In D4 and D5 knock-outs, the increased noise vulnerability was seen only in ABRs, consistent with a role for dopaminergic signaling in minimizing neural damage. ..
- Jiang S, Venners S, Hsu Y, Weinstock J, Wang B, Xing H, et al. Interactive Effect of the KCNJ11 Ile337Val Polymorphism and Cigarette Smoking on the Antihypertensive Response to Irbesartan in Chinese Hypertensive Patients. Am J Hypertens. 2016;29:553-9 pubmed publisher..001). The interactive effect of smoking status and the KCNJ11 genotype may influence the antihypertensive effects of irbesartan, which indicates a consideration for future individualized antihypertensive drug treatment. ..
- Kulish D, Struhl K. TFIIS enhances transcriptional elongation through an artificial arrest site in vivo. Mol Cell Biol. 2001;21:4162-8 pubmed
- 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. ..
- White R, Peters L, Adkison L, Korsgren C, Cohen C, Lux S. The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. Nat Genet. 1992;2:80-3 pubmed..This is the first gene defect to be associated with a platelet storage pool deficiency, and may allow the identification of a novel structure or biological pathway that influences granulogenesis. ..
- Zhang K, Smouse D, Perrimon N. The crooked neck gene of Drosophila contains a motif found in a family of yeast cell cycle genes. Genes Dev. 1991;5:1080-91 pubmed..The sequence similarity and mutant phenotypes are consistent with a cell cycle requirement for the crn gene product. ..
- Gao Y, Chaudhuri J, Zhu C, Davidson L, Weaver D, Alt F. A targeted DNA-PKcs-null mutation reveals DNA-PK-independent functions for KU in V(D)J recombination. Immunity. 1998;9:367-76 pubmed..Finally, while DNA-PK-null fibroblasts exhibited increased IR sensitivity, DNA-PKcs-deficient ES cells did not. We conclude that Ku70 and Ku80 may have functions in V(D)J recombination and DNA repair that are independent of DNA-PKcs. ..
- Wills Z, Bateman J, Korey C, Comer A, Van Vactor D. The tyrosine kinase Abl and its substrate enabled collaborate with the receptor phosphatase Dlar to control motor axon guidance. Neuron. 1999;22:301-12 pubmed..These data suggest that Dlar, Abl, and Ena define a phosphorylation state-dependent switch that controls growth cone behavior by transmitting signals at the cell surface to the actin cytoskeleton. ..
- Gaubatz S, Lindeman G, Ishida S, Jakoi L, Nevins J, Livingston D, et al. E2F4 and E2F5 play an essential role in pocket protein-mediated G1 control. Mol Cell. 2000;6:729-35 pubmed..However, they failed to arrest in G1 in response to p16INK4a. Thus, E2F4 and E2F5 are dispensable for cell cycle progression but necessary for pocket protein-mediated G1 arrest of cycling cells. ..
- Morra M, Howie D, Grande M, Sayos J, Wang N, Wu C, et al. X-linked lymphoproliferative disease: a progressive immunodeficiency. Annu Rev Immunol. 2001;19:657-82 pubmed..It appears therefore that the SAP/SH2D1A gene controls signaling via the SLAM family of surface receptors and thus may play a fundamental role in T cell and APC interactions during viral infections. ..
- Fleming M, Campagna D, Haslett J, Trenor C, Andrews N. A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice. Genes Dev. 2001;15:652-7 pubmed..The mutated gene, Sfxn1, is the prototype of a novel family of evolutionarily conserved proteins present in eukaryotes. ..
- Smoller J, Biederman J, Arbeitman L, Doyle A, Fagerness J, Perlis R, et al. Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHD. Biol Psychiatry. 2006;59:460-7 pubmed..These analyses suggest that variation in the HTR1B gene may primarily affect the inattentive subtype of ADHD. ..
- Surks H, Riddick N, Ohtani K. M-RIP targets myosin phosphatase to stress fibers to regulate myosin light chain phosphorylation in vascular smooth muscle cells. J Biol Chem. 2005;280:42543-51 pubmed
- Belguise K, Guo S, Sonenshein G. Activation of FOXO3a by the green tea polyphenol epigallocatechin-3-gallate induces estrogen receptor alpha expression reversing invasive phenotype of breast cancer cells. Cancer Res. 2007;67:5763-70 pubmed
- Green D, Center D, Cruikshank W. Human immunodeficiency virus type 1 gp120 reprogramming of CD4+ T-cell migration provides a mechanism for lymphadenopathy. J Virol. 2009;83:5765-72 pubmed publisher..These findings suggest that gp120 alone can alter CD4(+) influx and efflux from lymph nodes in a fashion consistent with the development of lymphopenia and lymphadenopathy. ..
- Benoist C, Mathis D. Treg cells, life history, and diversity. Cold Spring Harb Perspect Biol. 2012;4:a007021 pubmed publisher..We will review here the specification of this lineage, its population dynamics, and the diversity of subphenotypes that correlate with their diverse roles in controlling inflammation in a variety of settings. ..
- Wang R, Seifert P, Jakobs T. Astrocytes in the Optic Nerve Head of Glaucomatous Mice Display a Characteristic Reactive Phenotype. Invest Ophthalmol Vis Sci. 2017;58:924-932 pubmed publisher..Thus, astrocytes appear to fine-tune their responses to the nature and/or timing of the injury to the neurons that they surround. ..
- Lee K, Wang J, Palme J, Escalante Chong R, Hua B, Springer M. Polymorphisms in the yeast galactose sensor underlie a natural continuum of nutrient-decision phenotypes. PLoS Genet. 2017;13:e1006766 pubmed publisher..These results suggest that ecological constraints on the galactose pathway may have led to variation in a single protein, allowing cells to quantitatively tune their response to nutrient changes in the environment. ..
- Satokata I, Benson G, Maas R. Sexually dimorphic sterility phenotypes in Hoxa10-deficient mice. Nature. 1995;374:460-3 pubmed..These results indicate a role for AbdB Hox genes in male and female fertility and suggest that maternal Hoxa10 is required to regulate the expression of a factor that affects the viability of preimplantation embryos. ..
- Lanske B, Divieti P, Kovacs C, Pirro A, Landis W, Krane S, et al. The parathyroid hormone (PTH)/PTH-related peptide receptor mediates actions of both ligands in murine bone. Endocrinology. 1998;139:5194-204 pubmed..The PTH/PTHrP receptor, therefore, mediates distinct physiologic actions of both PTH and PTHrP. ..
- Mandelbrot D, McAdam A, Sharpe A. B7-1 or B7-2 is required to produce the lymphoproliferative phenotype in mice lacking cytotoxic T lymphocyte-associated antigen 4 (CTLA-4). J Exp Med. 1999;189:435-40 pubmed..This suggests that the inhibitory function of CTLA-4 can overcome strong CD28-mediated signaling in vivo. ..
- Riggle P, Kumamoto C. Role of a Candida albicans P1-type ATPase in resistance to copper and silver ion toxicity. J Bacteriol. 2000;182:4899-905 pubmed..Crd1p is the first example of a eukaryotic copper pump that provides the primary source of cellular copper resistance, and its ability to confer silver resistance may enhance the prevalence of C. albicans as a nosocomial pathogen. ..
- Hong S, Shugart Y, Huang D, Shahwan S, Grant P, Hourihane J, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000;26:93-6 pubmed
- Ko J, Humbert S, Bronson R, Takahashi S, Kulkarni A, Li E, et al. p35 and p39 are essential for cyclin-dependent kinase 5 function during neurodevelopment. J Neurosci. 2001;21:6758-71 pubmed..Our data strongly suggest that p35 and p39 are essential for Cdk5 activity during the development of the nervous system. Thus, p35 and p39 are likely to be the principal, if not the only, activators of Cdk5. ..
- Chernova M, Jiang L, Friedman D, Darman R, Lohi H, Kere J, et al. Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity. J Biol Chem. 2005;280:8564-80 pubmed..Thus, the orthologous mouse and human SLC26A6 proteins differ in anion selectivity, transport mechanism, and acute regulation, but both mediate electroneutral Cl(-)/HCO(3)(-) exchange. ..
- Takai Y, Matikainen T, Jurisicova A, Kim M, Trbovich A, Fujita E, et al. Caspase-12 compensates for lack of caspase-2 and caspase-3 in female germ cells. Apoptosis. 2007;12:791-800 pubmed..However, when DNA damage is involved, and in the absence of caspase-2 and -3, caspase-12 becomes upregulated and mediates apoptosis in oocytes. ..
- Jones R, Capen D, Cohen K, Munn L, Jain R, Duda D. A protocol for phenotypic detection and characterization of vascular cells of different origins in a lung neovascularization model in rodents. Nat Protoc. 2008;3:388-97 pubmed publisher..Analysis of cells by this combined approach will characterize their phenotype, quantify their number and identify their role in the assembly of vascular channels. ..
- Maroulakou I, Oemler W, Naber S, Klebba I, Kuperwasser C, Tsichlis P. Distinct roles of the three Akt isoforms in lactogenic differentiation and involution. J Cell Physiol. 2008;217:468-77 pubmed publisher..We conclude that the three Akt isoforms have different roles in mammary gland differentiation during pregnancy and this may reflect differences in hormonal signaling. ..
- Fan B, Wiggs J. Glaucoma: genes, phenotypes, and new directions for therapy. J Clin Invest. 2010;120:3064-72 pubmed publisher..This review summarizes the human genetics and genomic approaches that have shed light on the complex inheritance of glaucoma genes and the potential for gene-based and cellular therapies that this research makes possible. ..
- Dahabreh I, Kitsios G, Kent D, Trikalinos T. Paraoxonase 1 polymorphisms and ischemic stroke risk: A systematic review and meta-analysis. Genet Med. 2010;12:606-15 pubmed publisher..Subgroup and sensitivity analyses showed similar results. In agreement with observations in coronary artery disease, PON1 rs662 appears to be associated with a small increase in the risk of ischemic stroke. ..
- Miyake N, Demer J, Shaaban S, Andrews C, Chan W, Christiansen S, et al. Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci. 2011;52:6321-8 pubmed publisher..Analysis of the current pedigree expands the phenotypic spectrum of hyperactivating CHN1 mutations to include vertical strabismus and supraduction deficits in the absence of Duane retraction syndrome. ..
- Menke J, Iwata Y, Rabacal W, Basu R, Stanley E, Kelley V. Distinct roles of CSF-1 isoforms in lupus nephritis. J Am Soc Nephrol. 2011;22:1821-33 pubmed publisher..Taken together, these data suggest that the three CSF-1 isoforms have distinct biologic properties, suggesting that blocking both circulating and intrarenal CSF-1 may be necessary for therapeutic efficacy. ..
- Plotkin S, Bredella M, Cai W, Kassarjian A, Harris G, Esparza S, et al. Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. PLoS ONE. 2012;7:e35711 pubmed publisher..The aim of this study was to establish an international cohort of patients with quantified whole-body internal tumor burden and to correlate tumor burden with clinical features of disease...
- van Opijnen T, Camilli A. A fine scale phenotype-genotype virulence map of a bacterial pathogen. Genome Res. 2012;22:2541-51 pubmed publisher..Thus, we have generated a resource that provides detailed insight into the biology and virulence of S. pneumoniae and provided a road map for similar discovery in other microorganisms. ..
- Lexmond W, Neves J, Nurko S, Olszak T, Exley M, Blumberg R, et al. Involvement of the iNKT cell pathway is associated with early-onset eosinophilic esophagitis and response to allergen avoidance therapy. Am J Gastroenterol. 2014;109:646-57 pubmed publisher..Our observations place iNKT cells at the center of allergic inflammation associated with EoE, which could have profound implications for our understanding, treatment and prevention of this and other human allergic diseases. ..
- Radkay Gonzalez L, Faquin W, McHugh J, Lewis J, Tuluc M, Seethala R. Ciliated Adenosquamous Carcinoma: Expanding the Phenotypic Diversity of Human Papillomavirus-Associated Tumors. Head Neck Pathol. 2016;10:167-75 pubmed publisher..These tumors add to the list of those which defy the dogma that ciliated epithelium always equates to a benign process. ..
- Gold H, Unal S, Cercenado E, Thauvin Eliopoulos C, Eliopoulos G, Wennersten C, et al. A gene conferring resistance to vancomycin but not teicoplanin in isolates of Enterococcus faecalis and Enterococcus faecium demonstrates homology with vanB, vanA, and vanC genes of enterococci. Antimicrob Agents Chemother. 1993;37:1604-9 pubmed..Neither curing nor transfer of vancomycin resistance was consistently related to loss or acquisition, respectively, of plasmid DNA. ..
- Melnick M, Perkins L, Lee M, Ambrosio L, Perrimon N. Developmental and molecular characterization of mutations in the Drosophila-raf serine/threonine protein kinase. Development. 1993;118:127-38 pubmed..One of these mutations, D-rafC110, is associated with a single amino acid change within the putative D-raf regulatory region, while the other, D-rafHM-7, most likely reduces the wild-type amount of D-raf protein. ..
- Roberts S, Winston F. Essential functional interactions of SAGA, a Saccharomyces cerevisiae complex of Spt, Ada, and Gcn5 proteins, with the Snf/Swi and Srb/mediator complexes. Genetics. 1997;147:451-65 pubmed..These findings suggest that SAGA has multiple activities and plays critical roles in transcription by RNA polymerase II. ..
- O Toole G, Pratt L, Watnick P, Newman D, Weaver V, Kolter R. Genetic approaches to study of biofilms. Methods Enzymol. 1999;310:91-109 pubmed
- Huang T, Lock J, Marshall A, Basson C, Seidman J, Seidman C. Causes of clinical diversity in human TBX5 mutations. Cold Spring Harb Symp Quant Biol. 2002;67:115-20 pubmed
- Zoltan Jones A, Huang L, Ghatak S, Toole B. Elevated hyaluronan production induces mesenchymal and transformed properties in epithelial cells. J Biol Chem. 2003;278:45801-10 pubmed..Thus, increased expression of hyaluronan is sufficient to induce epithelial-mesenchymal transition and acquisition of transformed properties in phenotypically normal epithelial cells. ..
- Monahan B, Villen J, Marguerat S, Bahler J, Gygi S, Winston F. Fission yeast SWI/SNF and RSC complexes show compositional and functional differences from budding yeast. Nat Struct Mol Biol. 2008;15:873-80 pubmed publisher..Finally, phenotypic and microarray analyses identified widespread requirements for SWI/SNF and RSC on transcription including strong evidence that SWI/SNF directly represses iron-transport genes. ..
- Pittas A, Harris S, Eliades M, Stark P, Dawson Hughes B. Association between serum osteocalcin and markers of metabolic phenotype. J Clin Endocrinol Metab. 2009;94:827-32 pubmed publisher..Our findings should be considered hypothesis generating, and they need to be replicated in human studies designed to test the hypothesis that osteocalcin affects metabolism. ..
- Goodman A, Merighi M, Hyodo M, Ventre I, Filloux A, Lory S. Direct interaction between sensor kinase proteins mediates acute and chronic disease phenotypes in a bacterial pathogen. Genes Dev. 2009;23:249-59 pubmed publisher..These results suggest that multiple two-component systems found in a single bacterium can form multisensor signaling networks while maintaining specific phosphorelay pathways that remain insulated from detrimental cross-talk. ..
- Ho K, Spite M, Owens C, Lancero H, Kroemer A, Pande R, et al. Aspirin-triggered lipoxin and resolvin E1 modulate vascular smooth muscle phenotype and correlate with peripheral atherosclerosis. Am J Pathol. 2010;177:2116-23 pubmed publisher..These results also suggest that peripheral artery disease is associated with an inflammation-resolution deficit and highlight a potential therapeutic opportunity for the regulation of vascular injury responses. ..
- Gan B, Hu J, Jiang S, Liu Y, Sahin E, Zhuang L, et al. Lkb1 regulates quiescence and metabolic homeostasis of haematopoietic stem cells. Nature. 2010;468:701-4 pubmed publisher..Thus, Lkb1 serves as an essential regulator of HSCs and haematopoiesis, and more generally, points to the critical importance of coupling energy metabolism and stem-cell homeostasis. ..
- Kelly A, Breitkopf S, Yuan M, Goldsmith J, Spentzos D, Asara J. Metabolomic profiling from formalin-fixed, paraffin-embedded tumor tissue using targeted LC/MS/MS: application in sarcoma. PLoS ONE. 2011;6:e25357 pubmed publisher..Our study supports the notion that reliable and broadly informative metabolomic data may be acquired from FFPE soft tissue sarcoma specimens, a finding that is likely to be extended to other malignancies...
- Gepner Y, Henkin Y, Schwarzfuchs D, Golan R, Durst R, Shelef I, et al. Differential Effect of Initiating Moderate Red Wine Consumption on 24-h Blood Pressure by Alcohol Dehydrogenase Genotypes: Randomized Trial in Type 2 Diabetes. Am J Hypertens. 2016;29:476-83 pubmed publisher..Yet, a modest temporal BP reduction could be documented, and a more pronounced BP-lowering effect is suggested among fast ethanol metabolizers. ClinicalTrials.gov Identifier: NCT00784433. ..
- Miller V, Jenkins G, Biernacka J, Heit J, Huggins G, Hodis H, et al. Pharmacogenomics of estrogens on changes in carotid artery intima-medial thickness and coronary arterial calcification: Kronos Early Estrogen Prevention Study. Physiol Genomics. 2016;48:33-41 pubmed publisher..Results of this study suggest that hormonal status may interact with genetic variants to influence cardiovascular phenotypes, specifically, the pharmacogenomic effects within the innate immunity pathway for CIMT. ..
- Hachler H, Cohen S, Levy S. marA, a regulated locus which controls expression of chromosomal multiple antibiotic resistance in Escherichia coli. J Bacteriol. 1991;173:5532-8 pubmed..These results indicate that the marA locus is needed for production of Mar mutants and is regulated, responding to at least two antibiotics to which it controls resistance. ..
- Maas R, Elfering S, Glaser T, Jepeal L. Deficient outgrowth of the ureteric bud underlies the renal agenesis phenotype in mice manifesting the limb deformity (ld) mutation. Dev Dyn. 1994;199:214-28 pubmed..However, since ld transcripts can be detected in both metanephric mesenchyme and ureteric bud, the molecular basis for the deficiency in ureteric bud outgrowth could reside in either component. ..
- Zinyk D, McGonnigal B, Dearolf C. Drosophila awdK-pn, a homologue of the metastasis suppressor gene nm23, suppresses the Tum-1 haematopoietic oncogene. Nat Genet. 1993;4:195-201 pubmed..Tum-l lethality is also suppressed by pn mutations, indicating the existence of a haematopoietic regulatory pathway involving the Tum-l, AwdK-pn and Pn proteins. ..
- Goldman J, White D, Levy S. Multiple antibiotic resistance (mar) locus protects Escherichia coli from rapid cell killing by fluoroquinolones. Antimicrob Agents Chemother. 1996;40:1266-9 pubmed..The inducible mar locus appears to specify a novel antibactericidal mechanism which may play a role in the emergence of fluoroquinolone-resistant clinical E. coli isolates. ..
- Snapper S, Rosen F. The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. Annu Rev Immunol. 1999;17:905-29 pubmed..WASP/N-WASP may depolymerize actin directly and/or serve as an adaptor or scaffold for these signaling molecules in a complex cascade that regulates the cytoskeleton. ..
- Cheng H, He X, Moore C. The essential WD repeat protein Swd2 has dual functions in RNA polymerase II transcription termination and lysine 4 methylation of histone H3. Mol Cell Biol. 2004;24:2932-43 pubmed
- Feske S, Gwack Y, Prakriya M, Srikanth S, Puppel S, Tanasa B, et al. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature. 2006;441:179-85 pubmed..We propose that Orai1 is an essential component or regulator of the CRAC channel complex. ..
- Giallourakis C, Cao Z, Green T, Wachtel H, Xie X, Lopez Illasaca M, et al. A molecular-properties-based approach to understanding PDZ domain proteins and PDZ ligands. Genome Res. 2006;16:1056-72 pubmed..These results provide insight into the diverse roles of PDZ-ligand complexes in cellular signaling and provide a computational framework for the genome-wide evaluation of PDZ complexes. ..
- Cerrato F, Shagoury J, Kralickova M, Dwyer A, Falardeau J, Ozata M, et al. Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism. Eur J Endocrinol. 2006;155 Suppl 1:S3-S10 pubmed..Twenty-four rare variants were identified in GNRHR (within 15 probands) and seven rare variants in GPR54 (within five probands). Rare variants in GNRHR are more common than GPR54 in a nIHH population. ..
- Hekmat Scafe D, Mercado A, Fajilan A, Lee A, Hsu R, Mount D, et al. Seizure sensitivity is ameliorated by targeted expression of K+-Cl- cotransporter function in the mushroom body of the Drosophila brain. Genetics. 2010;184:171-83 pubmed publisher..We show that kcc(DHS1) seizure sensitivity in MB neurons acts via a weakening of chemical synaptic inhibition by GABAergic transmission and suggest that this is due to disruption of intracellular Cl(-) gradients in MB neurons. ..
- Song W, Tai Y, Tian Z, Hideshima T, Chauhan D, Nanjappa P, et al. HDAC inhibition by LBH589 affects the phenotype and function of human myeloid dendritic cells. Leukemia. 2011;25:161-8 pubmed publisher..It also provides a rationale to evaluate LBH589 activity for the treatment of inflammation. ..
- Stottmann R, Moran J, Turbe Doan A, Driver E, Kelley M, Beier D. Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. Genetics. 2011;188:615-24 pubmed publisher..We find that refining ENU mutagenesis in these ways is an efficient experimental approach and that investigation of the developing mammalian nervous system using forward genetic experiments is highly productive. ..
- Wang X, Werneck M, WILSON B, Kim H, Kluk M, Thom C, et al. TCR-dependent transformation of mature memory phenotype T cells in mice. J Clin Invest. 2011;121:3834-45 pubmed publisher..Our findings further suggest that agents that impinge upon TCR signaling may represent an effective therapeutic modality for this class of lethal human cancers. ..
- Mar J, Matigian N, Quackenbush J, Wells C. attract: A method for identifying core pathways that define cellular phenotypes. PLoS ONE. 2011;6:e25445 pubmed publisher..attract can be applied to a wide range of biological systems and is freely available as a Bioconductor package and has been incorporated into the MeV software system. ..
- Sherva R, Tripodis Y, Bennett D, Chibnik L, Crane P, De Jager P, et al. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. Alzheimers Dement. 2014;10:45-52 pubmed publisher..These data suggest that SPON1 may be associated with the differential rate of cognitive decline in AD. ..
- Lessard S, Gatof E, Beaudoin M, Schupp P, Sher F, Ali A, et al. An erythroid-specific ATP2B4 enhancer mediates red blood cell hydration and malaria susceptibility. J Clin Invest. 2017;127:3065-3074 pubmed publisher..Our study supports ATP2B4 as a potential target for modulating rbc hydration in erythroid disorders and malaria infection. ..
- Chang S, Kohlgruber A, Mizoguchi F, Michelet X, Wolf B, Wei K, et al. Stromal cell cadherin-11 regulates adipose tissue inflammation and diabetes. J Clin Invest. 2017;127:3300-3312 pubmed publisher..These results suggest that stromal fibroblasts expressing cadherin-11 regulate adipose tissue inflammation and thus highlight cadherin-11 as a potential therapeutic target for the management of obesity. ..
- Maccarana M, Svensson R, Knutsson A, Giannopoulos A, Pelkonen M, Weis M, et al. Asporin-deficient mice have tougher skin and altered skin glycosaminoglycan content and structure. PLoS ONE. 2017;12:e0184028 pubmed publisher..Also, decorin and biglycan were doubled in Aspn-/- skin. Overall, asporin deficiency changes skin glycosaminoglycan composition, and decorin and biglycan content, which may explain the changes in skin mechanical properties. ..
- De Wulf P, Lin E. Cpx two-component signal transduction in Escherichia coli: excessive CpxR-P levels underlie CpxA* phenotypes. J Bacteriol. 2000;182:1423-6 pubmed..We here report that all of the tested CpxA* phenotypes depend on elevated levels of CpxR-P and not on cross-signalling of CpxA* to noncognate response regulators. ..
- Milunsky J, Maher T, Metzenberg A. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Am J Med Genet A. 2003;116A:249-54 pubmed..The mild maternal phenotype has been described previously. However, this nonmosaic missense mutation has resulted in a severe phenotype in her surviving son...
- Mogi M, Yang J, Lambert J, Colvin G, Shiojima I, Skurk C, et al. Akt signaling regulates side population cell phenotype via Bcrp1 translocation. J Biol Chem. 2003;278:39068-75 pubmed..These data suggest that Akt signaling modulates the SP cell phenotype by regulating the expression of Bcrp1...
- Trzcinski K, Thompson C, Gilbey A, Dowson C, Lipsitch M. Incremental increase in fitness cost with increased beta -lactam resistance in pneumococci evaluated by competition in an infant rat nasal colonization model. J Infect Dis. 2006;193:1296-303 pubmed..The cost of penicillin-resistance acquisition for the Streptococcus pneumoniae strain competing with its susceptible ancestor to colonize the URT increases with the number of resistant pbp alleles acquired. ..
- Zhu H, Shah S, Shyh Chang N, Shinoda G, Einhorn W, Viswanathan S, et al. Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies. Nat Genet. 2010;42:626-30 pubmed publisher..Here we report a mouse that models the human phenotypes associated with genetic variation in the Lin28-Let-7 pathway. ..
- Naylor M, Weiss S, Lange C. A Bayesian approach to genetic association studies with family-based designs. Genet Epidemiol. 2010;34:569-74 pubmed publisher..We then applied the approach to a genome-wide association scan to search for associations between single nucleotide polymorphisms and body mass index in the Childhood Asthma Management Program data. ..
- Ritterson Lew C, Tolan D. Targeting of several glycolytic enzymes using RNA interference reveals aldolase affects cancer cell proliferation through a non-glycolytic mechanism. J Biol Chem. 2012;287:42554-63 pubmed publisher..These results are compared with other studies targeting glycolytic enzymes with RNAi in the context of cancer cell proliferation and suggest that aldolase may be a useful target in the treatment of cancer. ..
- Branco A, Hartl D, Lemos B. Chromatin-associated proteins HP1 and Mod(mdg4) modify Y-linked regulatory variation in the drosophila testis. Genetics. 2013;194:609-18 pubmed publisher..The phenotypes that emerge in the context of wild-type levels of the HP1 and Mod(mdg4) proteins might be part of an adaptive response to the environment. ..
- Avitzur Y, Guo C, Mastropaolo L, Bahrami E, Chen H, Zhao Z, et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology. 2014;146:1028-39 pubmed publisher..Defects in the phosphatidylinositol 4-kinase-TTC7A-EFR3 homolog B pathway are involved in the pathogenesis of VEOIBD. ..