Genomes and Genes
Experts and Doctors on phenotype in Memphis, Tennessee, United States
Locale: Memphis, Tennessee, United States
Publications139 found, 100 shown here
- Brown P, Roose S, Zhang J, Wall M, Rutherford B, Ayonayon H, et al. Inflammation, Depression, and Slow Gait: A High Mortality Phenotype in Later Life. J Gerontol A Biol Sci Med Sci. 2016;71:221-7 pubmed publisher..Comprehensive assessment of older adults is warranted for the development of treatment strategies targeting a high-mortality risk phenotype consisting of inflammation, depression, and slow gait speed. ..
- Argikar U, Potter P, Hutzler J, Marathe P. Challenges and Opportunities with Non-CYP Enzymes Aldehyde Oxidase, Carboxylesterase, and UDP-Glucuronosyltransferase: Focus on Reaction Phenotyping and Prediction of Human Clearance. AAPS J. 2016;18:1391-1405 pubmed..The review will highlight progress made in establishing in vitro-in vivo correlation, predicting human clearance and avoiding costly clinical failures when non-CYP-mediated metabolic pathways are predominant. ..
- Zhou D, Zhao Y, Baker J, Gu Q, Hamre K, Yue J, et al. The effect of alcohol on the differential expression of cluster of differentiation 14 gene, associated pathways, and genetic network. PLoS ONE. 2017;12:e0178689 pubmed publisher..In conclusion, we found Cd14, along with several other genes and pathways, to be involved in ethanol responses in the hippocampus, such as increased susceptibility to lipopolysaccharides and neuroinflammation. ..
- Hill T, Loprete D, Momany M, Ha Y, Harsch L, Livesay J, et al. Isolation of cell wall mutants in Aspergillus nidulans by screening for hypersensitivity to Calcofluor White. Mycologia. 2006;98:399-409 pubmed..This effect mimics that of certain temperature-sensitive swollen cell (swo) mutations. ..
- Du X, Elberger A, Matthews D, Hamre K. Heterozygous deletion of NR1 subunit of the NMDA receptor alters ethanol-related behaviors and regional expression of NR2 subunits in the brain. Neurotoxicol Teratol. 2012;34:177-86 pubmed publisher..This provides evidence of the effects of altered levels of NR1 expression on ethanol withdrawal and consumption, and suggests that concomitant changes in the levels of NR2B may contribute to that effect. ..
- Abdelsamed H, Moustaki A, Fan Y, Dogra P, Ghoneim H, Zebley C, et al. Human memory CD8 T cell effector potential is epigenetically preserved during in vivo homeostasis. J Exp Med. 2017;214:1593-1606 pubmed publisher..These data demonstrate that effector-associated epigenetic programs are preserved during cytokine-driven subset interconversion of human memory CD8 T cells. ..
- Zhou X, Morreau H, Rottier R, Davis D, Bonten E, Gillemans N, et al. Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells. Genes Dev. 1995;9:2623-34 pubmed..Furthermore, they suggest the feasibility of gene therapy for galactosialidosis and other disorders, using bone marrow cells engineered to overexpress and secrete the correcting lysosomal protein. ..
- Lu H, Lu L, Williams R, Jablonski M. Iris transillumination defect and its gene modulators do not correlate with intraocular pressure in the BXD family of mice. Mol Vis. 2016;22:224-33 pubmed..Genetic modulators of IOP thus may be independently identified using the full array of BXD mice without concern for the presence of TIDs or mutations in Typr1 and/or Gpnmb. ..
- QuirÃ³s P, Prado M, Zamboni N, D Amico D, Williams R, Finley D, et al. Multi-omics analysis identifies ATF4 as a key regulator of the mitochondrial stress response in mammals. J Cell Biol. 2017;216:2027-2045 pubmed publisher..Our data illustrate the value of a multiomics approach to characterize complex cellular networks and provide a versatile resource to identify new regulators of mitochondrial-related diseases. ..
- Zhang Y, Rock C, Jackowski S. Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration. J Biol Chem. 2006;281:107-14 pubmed..These data described the unique biochemical features of the PanK2 isoforms and suggested that catalytic defects may not be the sole cause for the neurodegenerative phenotype. ..
- Dragatsis I, Goldowitz D, Del Mar N, Deng Y, Meade C, Liu L, et al. CAG repeat lengths > or =335 attenuate the phenotype in the R6/2 Huntington's disease transgenic mouse. Neurobiol Dis. 2009;33:315-30 pubmed publisher..Both diminished mutant protein and reduced nuclear entry may contribute to phenotype attenuation. ..
- Weber K, Sun Y, Bhattacharya S, Ahokas R, Gerling I. Myofibroblast-mediated mechanisms of pathological remodelling of the heart. Nat Rev Cardiol. 2013;10:15-26 pubmed publisher..Signalling pathways that antagonize collagen fibrillogenesis provide novel strategies for cardioprotection. ..
- Wu X, Zhang L, Toombs J, Kuo Y, Piazza J, Tuladhar R, et al. Extra-mitochondrial prosurvival BCL-2 proteins regulate gene transcription by inhibiting the SUFU tumour suppressor. Nat Cell Biol. 2017;19:1226-1236 pubmed publisher..Our findings delineate a chemical strategy for countering drug resistance in GLI-associated tumours and reveal unanticipated functions for BCL-2 proteins as transcriptional regulators. ..
- Goldowitz D, Hamre K, Przyborski S, Ackerman S. Granule cells and cerebellar boundaries: analysis of Unc5h3 mutant chimeras. J Neurosci. 2000;20:4129-37 pubmed..These findings demonstrate that both inside and outside the cerebellum, the granule cell is the key cell type to demarcate the boundaries of the cerebellum. ..
- Lugthart S, Cheok M, den Boer M, Yang W, Holleman A, Cheng C, et al. Identification of genes associated with chemotherapy crossresistance and treatment response in childhood acute lymphoblastic leukemia. Cancer Cell. 2005;7:375-86 pubmed..The expression of these genes discriminated treatment outcome in two independent patient populations, identifying a subset of patients with a markedly inferior outcome (37% +/- 13% 5 year DFS). ..
- Wang T, Parris J, Li L, Morgan J. The carboxypeptidase-like substrate-binding site in Nna1 is essential for the rescue of the Purkinje cell degeneration (pcd) phenotype. Mol Cell Neurosci. 2006;33:200-13 pubmed..Therefore, loss of Nna1 in Purkinje cells leads directly to their degeneration and Nna1's carboxypeptidase domain is essential for survival of these neurons. ..
- Lavado A, He Y, Pare J, Neale G, Olson E, Giovannini M, et al. Tumor suppressor Nf2 limits expansion of the neural progenitor pool by inhibiting Yap/Taz transcriptional coactivators. Development. 2013;140:3323-34 pubmed publisher..Our studies uncover Nf2 as an important inhibitor of neural progenitor expansion and establish Yap/Taz as key downstream effectors of Nf2 during brain development. ..
- Damm E, Clements W. Pdgf signalling guides neural crest contribution to the haematopoietic stem cell specification niche. Nat Cell Biol. 2017;19:457-467 pubmed publisher..Preventing association of the NC with the DA leads to loss of HSCs. Our results define NC as key cellular components of the HSC specification niche that can be profiled to identify unknown HSC specification signals. ..
- Russell H, Lee Y, Miller H, Zhao J, McKinnon P. Murine ovarian development is not affected by inactivation of the bcl-2 family member diva. Mol Cell Biol. 2002;22:6866-70 pubmed..Thus, Diva is not critical for the normal development of the ovaries, or in its absence its function is subserved by another protein. ..
- Kamijo T, van de Kamp E, Chong M, Zindy F, Diehl J, Sherr C, et al. Loss of the ARF tumor suppressor reverses premature replicative arrest but not radiation hypersensitivity arising from disabled atm function. Cancer Res. 1999;59:2464-9 pubmed..Therefore, whereas ARF and Atm signal to p53 through distinct pathways, the loss of ARF can modify p53-dependent features of the Atm-null phenotype. ..
- Hirai H, Miyazaki T, Kakegawa W, Matsuda S, Mishina M, Watanabe M, et al. Rescue of abnormal phenotypes of the delta2 glutamate receptor-null mice by mutant delta2 transgenes. EMBO Rep. 2005;6:90-5 pubmed..Therefore, these results indicate that the conserved arginine residue, which is crucial for the binding of iGluRs to glutamate analogues, is not essential for the restoration of GluRdelta2 functions in delta2(-/-) mice. ..
- Lagutina I, Conway S, Sublett J, Grosveld G. Pax3-FKHR knock-in mice show developmental aberrations but do not develop tumors. Mol Cell Biol. 2002;22:7204-16 pubmed..We conclude that the Pax3-FKHR allele causes lethal developmental defects in knock-in mice but might be insufficient to cause muscle tumors...
- Ducatez M, Sonnberg S, Crumpton J, Rubrum A, Phommachanh P, Douangngeun B, et al. Highly pathogenic avian influenza H5N1 clade 188.8.131.52 and clade 2.3.4 viruses do not induce a clade-specific phenotype in mallard ducks. J Gen Virol. 2017;98:1232-1244 pubmed publisher..The ability of clade 184.108.40.206c A/common buzzard/Bulgaria/38?WB/2010-like viruses to spread cross-continentally may, therefore, have been strain-specific or independent of phenotype in wild ducks. ..
- Slominski A, Fischer T, Zmijewski M, Wortsman J, Semak I, Zbytek B, et al. On the role of melatonin in skin physiology and pathology. Endocrine. 2005;27:137-48 pubmed..Furthermore, melatonin could have a role in protection against solar radiation or even in the management of skin diseases. ..
- Wu J, Kakoola D, Lenchik N, Desiderio D, Marshall D, Gerling I. Molecular phenotyping of immune cells from young NOD mice reveals abnormal metabolic pathways in the early induction phase of autoimmune diabetes. PLoS ONE. 2012;7:e46941 pubmed publisher..Thus, targeting metabolism may provide novel approaches to preventing and/or treating autoimmune diabetes. ..
- Schuetz J, Connelly M, Sun D, Paibir S, Flynn P, Srinivas R, et al. MRP4: A previously unidentified factor in resistance to nucleoside-based antiviral drugs. Nat Med. 1999;5:1048-51 pubmed..MRP4 is the first transporter, to our knowledge, directly linked to the efflux of nucleoside monophosphate analogs from mammalian cells. ..
- Ganuza M, Hall T, Finkelstein D, Chabot A, Kang G, McKinney Freeman S. Lifelong haematopoiesis is established by hundreds of precursors throughout mammalian ontogeny. Nat Cell Biol. 2017;19:1153-1163 pubmed publisher..5 and ends by E10.5, and that many c-Kit+ clusters of newly specified blood progenitors in the aorta are polyclonal in origin. Our work illuminates the dynamics of the developing mammalian blood system during homeostasis...
- Jablonski M, Wang X, Lu L, Miller D, Rinchik E, Williams R, et al. The Tennessee Mouse Genome Consortium: identification of ocular mutants. Vis Neurosci. 2005;22:595-604 pubmed..Mice from each of these pedigrees of mutant mice are available for distribution to researchers for independent study. ..
- 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. ..
- Jensen P, Smeyne R, Goldowitz D. Analysis of cerebellar development in math1 null embryos and chimeras. J Neurosci. 2004;24:2202-11 pubmed..Finally, the colonization of the EGL by wild-type cells and the presence of acellular gaps provides evidence that EGL neuroblasts undergo active migration and likely have a predetermined spatial address in the rhombic lip. ..
- Bansal P, Abdulle R, Kitagawa K. Sgt1 associates with Hsp90: an initial step of assembly of the core kinetochore complex. Mol Cell Biol. 2004;24:8069-79 pubmed..Our results strongly suggest that Sgt1 and Hsp90 function in assembling CBF3 by activating Skp1 and Ctf13. ..
- Kanangat S, Postlethwaite A, Higgins G, Hasty K. Novel functions of intracellular IL-1ra in human dermal fibroblasts: implications in the pathogenesis of fibrosis. J Invest Dermatol. 2006;126:756-65 pubmed..Our data indicate novel functions for icIL-1ra, which might be relevant to the genesis of fibrotic diseases such as SSc. ..
- Djagaeva I, Doronkin S. Dual regulation of dendritic morphogenesis in Drosophila by the COP9 signalosome. PLoS ONE. 2009;4:e7577 pubmed publisher..We also identified that Cullin1 acts in neurons with the substrate-specific F-box protein Slimb to target the Cubitus interruptus protein for degradation. ..
- Bhattacharya A, Ziebarth J, Cui Y. PolymiRTS Database 3.0: linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways. Nucleic Acids Res. 2014;42:D86-91 pubmed publisher..The browse and search pages of PolymiRTS allow users to explore the relations between the PolymiRTSs and gene expression traits, physiological and behavioral phenotypes, human diseases and biological pathways. ..
- Matrosovich M, Zhou N, Kawaoka Y, Webster R. The surface glycoproteins of H5 influenza viruses isolated from humans, chickens, and wild aquatic birds have distinguishable properties. J Virol. 1999;73:1146-55 pubmed
- Nanda M, Elenburg S, Bernstein J, Assa ad A. Clinical features of pediatric hereditary angioedema. J Allergy Clin Immunol Pract. 2015;3:392-5 pubmed publisher..Abdominal attacks were more common than peripheral attacks in this population. ..
- Nosaka T, van Deursen J, Tripp R, Thierfelder W, Witthuhn B, McMickle A, et al. Defective lymphoid development in mice lacking Jak3. Science. 1995;270:800-2 pubmed..Thus, Jak3 plays a critical role in gamma c signaling and lymphoid development. ..
- Rice D, Williams R, Goldowitz D. Genetic control of retinal projections in inbred strains of albino mice. J Comp Neurol. 1995;354:459-69 pubmed..The consistent effect of null alleles at tyrosinase suggests a comparably tight linkage between the biochemical activity of this enzyme and the mechanisms that control decussation phenotype. ..
- Tharapel A, Anderson K, Simpson J, Martens P, Wilroy R, Llerena J, et al. Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. Am J Hum Genet. 1993;52:463-71 pubmed..In light of previous phenotypic-karyotypic correlations, it can be deduced that this region contains a locus responsible for ovarian maintenance. ..
- Minegishi Y, Coustan Smith E, Rapalus L, Ersoy F, Campana D, Conley M. Mutations in Igalpha (CD79a) result in a complete block in B-cell development. J Clin Invest. 1999;104:1115-21 pubmed..Furthermore, they suggest that Igalpha does not play a critical role in B-cell development until it is expressed, along with mu heavy chain, as part of the pre-BCR. ..
- Yang L, Boyd K, Kaste S, Kamdem Kamdem L, RAHIJA R, Relling M. A mouse model for glucocorticoid-induced osteonecrosis: effect of a steroid holiday. J Orthop Res. 2009;27:169-75 pubmed publisher..Moreover, asparaginase hastened osteonecrosis, indicating that drugs may interact with glucocorticoids to affect osteonecrosis risk. ..
- Ordway J, Eberhart D, Curran T. Cysteine 64 of Ref-1 is not essential for redox regulation of AP-1 DNA binding. Mol Cell Biol. 2003;23:4257-66 pubmed
- Broides A, Yang W, Conley M. Genotype/phenotype correlations in X-linked agammaglobulinemia. Clin Immunol. 2006;118:195-200 pubmed
- Qian Z, Latham K, Whittington K, Miller D, Brand D, Rosloniec E. Engineered regulatory T cells coexpressing MHC class II:peptide complexes are efficient inhibitors of autoimmune T cell function and prevent the development of autoimmune arthritis. J Immunol. 2013;190:5382-91 pubmed publisher..These data indicate that the coexpression of class II autoantigen-peptide complexes on Tregs provides these cells with a distinct capacity to regulate autoimmune T cell responses that differs from that used by conventional Tregs. ..
- Wang T, Marei H. Landscape of NAT2 polymorphisms among breast cancer. Biomed Pharmacother. 2016;77:191-6 pubmed publisher..Intermediate acetylator is protective for particular ethnic groups, a finding which should be carefully viewed and confirmed in the future studies. ..
- Yoon K, Phelps D, Bush R, Remack J, Billups C, Khoury J. ICAM-2 expression mediates a membrane-actin link, confers a nonmetastatic phenotype and reflects favorable tumor stage or histology in neuroblastoma. PLoS ONE. 2008;3:e3629 pubmed publisher..Current work focuses on identifying specific protein domains critical to the regulation of neuroblastoma cell motility and metastasis and on determining if these domains represent exploitable therapeutic targets. ..
- Penmatsa H, Frederick C, Nekkalapu S, Conoley V, Zhang W, Li C, et al. Clinical and molecular characterization of S1118F-CFTR. Pediatr Pulmonol. 2009;44:1003-9 pubmed publisher..S1118F-CFTR shows impaired maturation and an individual with S1118F-CFTR paired with DeltaF508-CFTR exhibits atypical CF symptoms with intermediate sweat chloride level and meconium ileus despite documented pancreatic sufficiency. ..
- Kansal R, Datta V, Aziz R, Abdeltawab N, Rowe S, Kotb M. Dissection of the molecular basis for hypervirulence of an in vivo-selected phenotype of the widely disseminated M1T1 strain of group A Streptococcus bacteria. J Infect Dis. 2010;201:855-65 pubmed publisher..Correction of the covS mutation in AP bacteria reverted them back to the WT phenotype. Our data confirm that covS plays a direct role in regulating GAS virulence. ..
- Williams R, Strom R, Goldowitz D. Natural variation in neuron number in mice is linked to a major quantitative trait locus on Chr 11. J Neurosci. 1998;18:138-46 pubmed..Each receptor is expressed in the retina during development, and their ligands affect the proliferation or survival of retinal cells. ..
- Slominski A, Zbytek B, Zmijewski M, Slominski R, Kauser S, Wortsman J, et al. Corticotropin releasing hormone and the skin. Front Biosci. 2006;11:2230-48 pubmed..The accumulated evidence indicates that cutaneous CRH is also a component of a local structure organized similarly to the hypothalamo-pituitary-adrenal axis. ..
- Kermany M, Parker L, Guo Y, Miller D, Swanson D, Yoo T, et al. Identification of 17 hearing impaired mouse strains in the TMGC ENU-mutagenesis screen. Hear Res. 2006;220:76-86 pubmed..Further characterization of these 17 mouse models will advance our understanding of presbycusis and noise-induced hearing loss in humans. ..
- Wright C, Longjohn M, Lieberman P, Lieberman J. An analysis of anaphylaxis cases at a single pediatric emergency department during a 1-year period. Ann Allergy Asthma Immunol. 2017;118:461-464 pubmed publisher..At our center, foods are the most common trigger for pediatric anaphylaxis. Patients continue to be undertreated, and referral to an allergist from the ED is rare. ..
- Kovari L, Fourie M, Park H, Kovari I, van Vuuren H, Cooper T. Analysis of the inducer-responsive CAR1 upstream activation sequence (UASI) and the factors required for its operation. Yeast. 1993;9:835-45 pubmed..Moreover, simultaneous mutation of both ends of an elements gave stronger phenotypes than mutations at either end. The center of the element was more sensitive to mutation than were the ends. ..
- Relling M, Hancock M, Rivera G, Sandlund J, Ribeiro R, Krynetski E, et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J Natl Cancer Inst. 1999;91:2001-8 pubmed..We conclude that genetic polymorphism in TPMT is an important determinant of mercaptopurine toxicity, even among patients who are heterozygous for this trait. ..
- Martin A, David V, Li H, Dai B, Feng J, Quarles L. Overexpression of the DMP1 C-terminal fragment stimulates FGF23 and exacerbates the hypophosphatemic rickets phenotype in Hyp mice. Mol Endocrinol. 2012;26:1883-95 pubmed publisher..These findings indicate a functional interaction between PHEX and DMP1 to regulate bone mineralization and circulating FGF23 levels and for the first time demonstrate effects of the C-terminal DMP1 to regulate FGF23 degradation. ..
- Cunningham T, Cooper T. Expression of the DAL80 gene, whose product is homologous to the GATA factors and is a negative regulator of multiple nitrogen catabolic genes in Saccharomyces cerevisiae, is sensitive to nitrogen catabolite repression. Mol Cell Biol. 1991;11:6205-15 pubmed..The latter correlations raise the possibility that both positive and negative regulators of allantoin pathway transcription may bind to similar sequences. ..
- Slominski A, Plonka P, Pisarchik A, Smart J, Tolle V, Wortsman J, et al. Preservation of eumelanin hair pigmentation in proopiomelanocortin-deficient mice on a nonagouti (a/a) genetic background. Endocrinology. 2005;146:1245-53 pubmed..Whereas the latter implies feedback control of melanogenesis, it is also possible that the two mechanisms operate jointly in hair follicles. ..
- Tagen M, Zhuang Y, Zhang F, Harstead K, Shen J, Schaiquevich P, et al. P-glycoprotein, but not multidrug resistance protein 4, plays a role in the systemic clearance of irinotecan and SN-38 in mice. Drug Metab Lett. 2010;4:195-201 pubmed..These results suggest that P-gp plays a role in irinotecan and SN-38 elimination, but Mrp4 does not affect irinotecan or SN-38 plasma pharmacokinetics. ..
- Papazian L, Calfee C, Chiumello D, Luyt C, Meyer N, Sekiguchi H, et al. Diagnostic workup for ARDS patients. Intensive Care Med. 2016;42:674-685 pubmed publisher..The definition of ARDS remains clinical and the main objective of the diagnostic workup should be to be focused on identification of its aetiology, especially a treatable infection. ..
- Goldowitz D, Cushing R, Laywell E, D ARCANGELO G, Sheldon M, Sweet H, et al. Cerebellar disorganization characteristic of reeler in scrambler mutant mice despite presence of reelin. J Neurosci. 1997;17:8767-77 pubmed..These findings imply that the scrambler gene product may function in a molecular pathway critical for neuronal migration that is tightly linked to, but downstream of, reelin. ..
- Evans W, Hon Y, Bomgaars L, Coutre S, Holdsworth M, Janco R, et al. Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J Clin Oncol. 2001;19:2293-301 pubmed..However, with appropriate dosage adjustments, TPMT-deficient and heterozygous patients can be treated with thiopurines, without acute dose-limiting toxicity. ..
- Yates C, Chang C, Kearbey J, Yasuda K, Schuetz E, Miller D, et al. Structural determinants of P-glycoprotein-mediated transport of glucocorticoids. Pharm Res. 2003;20:1794-803 pubmed..Nonpolar bulky substituents around the C-6alpha position, as well as a hydrogen-bond donor at position C-11, enhance P-glycoprotein affinity and cellular efflux, whereas bulky substituents at C-16 diminish transporter affinity. ..
- Mozhui K, Hamre K, Holmes A, Lu L, Williams R. Genetic and structural analysis of the basolateral amygdala complex in BXD recombinant inbred mice. Behav Genet. 2007;37:223-43 pubmed..Other candidates include Large, and Thra. Responses to drugs of abuse and locomotor activity were the most notable behavioral correlates of the BLAc traits. ..
- Cox K, Kerr N, Kedrov M, Nishimura D, Jennings B, Stone E, et al. Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. Vision Res. 2012;75:77-87 pubmed publisher..Our findings confirm the consistent pathogenicity of the BBS1 M390R mutation. ..
- Treviño L, Shimasaki N, Yang W, Panetta J, Cheng C, Pei D, et al. Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. J Clin Oncol. 2009;27:5972-8 pubmed publisher..4; P = .03 to .004). A genome-wide interrogation identified inherited variations in a plausible, yet heretofore low-priority candidate gene, SLCO1B1, as important determinants of methotrexate's pharmacokinetics and clinical effects. ..
- Garcia M, Leonardi R, Zhang Y, Rehg J, Jackowski S. Germline deletion of pantothenate kinases 1 and 2 reveals the key roles for CoA in postnatal metabolism. PLoS ONE. 2012;7:e40871 pubmed publisher..The data indicate that PanK1 and PanK2 can compensate for each other to supply tissue CoA, but PanK1 is more important to CoA levels in liver whereas PanK2 contributes more to CoA synthesis in the brain. ..
- Workman C, Rice D, Dugger K, Kurschner C, Vignali D. Phenotypic analysis of the murine CD4-related glycoprotein, CD223 (LAG-3). Eur J Immunol. 2002;32:2255-63 pubmed..In contrast, all T cells express mCD223 2-3 days post activation. This study and the anti-CD223 mAb should greatly assist in the elucidation of CD223 function. ..
- Yue J, Yokoyama K, Balazs L, Baker D, Smalley D, Pilquil C, et al. Mice with transgenic overexpression of lipid phosphate phosphatase-1 display multiple organotypic deficits without alteration in circulating lysophosphatidate level. Cell Signal. 2004;16:385-99 pubmed
- Reynolds A, Daniel J, Mo Y, Wu J, Zhang Z. The novel catenin p120cas binds classical cadherins and induces an unusual morphological phenotype in NIH3T3 fibroblasts. Exp Cell Res. 1996;225:328-37 pubmed
- Yates C, Krynetski E, Loennechen T, Fessing M, Tai H, Pui C, et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med. 1997;126:608-14 pubmed..The detection of TPMT mutations provides a molecular diagnostic method for prospectively identifying TPMT-deficient and heterozygous patients. ..
- Iannaccone A, Mura M, Dyka F, Ciccarelli M, Yashar B, Ayyagari R, et al. An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. Vision Res. 2006;46:3845-52 pubmed
- Li S, Goldowitz D, Swanson D. The requirement of pax6 for postnatal eye development: evidence from experimental mouse chimeras. Invest Ophthalmol Vis Sci. 2007;48:3292-300 pubmed..All evidence showed that, when Pax6 is absent at the initial stages of the development, Sey/Sey cells that contribute to the neural retina die, even when wild-type cells are available to provide normal environmental cues. ..
- Yang J, Cheng C, Yang W, Pei D, Cao X, Fan Y, et al. Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia. JAMA. 2009;301:393-403 pubmed publisher..Pediatric acute lymphoblastic leukemia (ALL) is the prototype for a drug-responsive malignancy. Although cure rates exceed 80%, considerable unexplained interindividual variability exists in treatment response...
- Jang H, Boltz D, Sturm Ramirez K, Shepherd K, Jiao Y, Webster R, et al. Highly pathogenic H5N1 influenza virus can enter the central nervous system and induce neuroinflammation and neurodegeneration. Proc Natl Acad Sci U S A. 2009;106:14063-8 pubmed publisher..Our results suggest that a pandemic H5N1 pathogen, or other neurotropic influenza virus, could initiate CNS disorders of protein aggregation including Parkinson's and Alzheimer's diseases. ..
- Gao Y, Katyal S, Lee Y, Zhao J, Rehg J, Russell H, et al. DNA ligase III is critical for mtDNA integrity but not Xrcc1-mediated nuclear DNA repair. Nature. 2011;471:240-4 pubmed publisher..Therefore, our data reveal that the critical biological role of Lig3 is to maintain mtDNA integrity and not Xrcc1-dependent DNA repair. ..
- Li S, Zhang P, Freibaum B, Kim N, Kolaitis R, Molliex A, et al. Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy. Hum Mol Genet. 2016;25:936-50 pubmed publisher..These results indicate both genetic and physical interactions between disease-linked RBPs and DNAJB6/mrj, suggesting etiologic overlap between the pathogenesis of hIBM and LGMD initiated by mutations in hnRNPA2B1 and DNAJB6. ..
- Sosa Pineda B. The gene Pax4 is an essential regulator of pancreatic beta-cell development. Mol Cells. 2004;18:289-94 pubmed..Here, I will try to summarize the results of different efforts aimed at understanding how Pax4 is required for both, beta cell development and beta cell function. ..
- Park T, Boyd K, Curran T. Cardiovascular and craniofacial defects in Crk-null mice. Mol Cell Biol. 2006;26:6272-82 pubmed..These data indicate that Crk is involved in cardiac and craniofacial development and that it plays an essential role in maintaining vascular integrity during embryonic development. ..
- Adderson E, Boudreaux J, Cummings J, Pounds S, Wilson D, Procop G, et al. Identification of clinical coryneform bacterial isolates: comparison of biochemical methods and sequence analysis of 16S rRNA and rpoB genes. J Clin Microbiol. 2008;46:921-7 pubmed..The correlation between identifications produced by different classification systems was poor, particularly for clinical isolates. ..
- Mozhui K, Ciobanu D, Schikorski T, Wang X, Lu L, Williams R. Dissection of a QTL hotspot on mouse distal chromosome 1 that modulates neurobehavioral phenotypes and gene expression. PLoS Genet. 2008;4:e1000260 pubmed publisher..Our analysis revealed a highly complex gene expression regulatory interval in Qrr1, composed of multiple loci modulating the expression of functionally cognate sets of genes. ..
- Johnson N, Dillard M, Baluk P, McDonald D, Harvey N, Frase S, et al. Lymphatic endothelial cell identity is reversible and its maintenance requires Prox1 activity. Genes Dev. 2008;22:3282-91 pubmed publisher..Therefore, LECs are one of the few differentiated cell types that require constant expression of a certain gene to maintain their phenotypic identity. ..
- French D, Yang W, Cheng C, Raimondi S, Mullighan C, Downing J, et al. Acquired variation outweighs inherited variation in whole genome analysis of methotrexate polyglutamate accumulation in leukemia. Blood. 2009;113:4512-20 pubmed publisher..We conclude that acquired genetic variation in leukemia cells has a stronger influence on MTXPG accumulation than inherited genetic variation. ..
- Devries C, Ohman D. Mucoid-to-nonmucoid conversion in alginate-producing Pseudomonas aeruginosa often results from spontaneous mutations in algT, encoding a putative alternate sigma factor, and shows evidence for autoregulation. J Bacteriol. 1994;176:6677-87 pubmed..A plasmid-borne algT gene in PAO1 resulted in both the mucoid phenotype and high levels of algT transcripts, further supporting the hypothesis that AlgT controls its own gene expression and expression of genes of the alginate regulon. ..
- Inoue K, Wen R, Rehg J, Adachi M, Cleveland J, Roussel M, et al. Disruption of the ARF transcriptional activator DMP1 facilitates cell immortalization, Ras transformation, and tumorigenesis. Genes Dev. 2000;14:1797-809 pubmed..Together, these data suggest that ARF function is compromised, but not eliminated, in animals lacking functional DMP1. ..
- Zhou S, Morris J, Barnes Y, Lan L, Schuetz J, Sorrentino B. Bcrp1 gene expression is required for normal numbers of side population stem cells in mice, and confers relative protection to mitoxantrone in hematopoietic cells in vivo. Proc Natl Acad Sci U S A. 2002;99:12339-44 pubmed..These results show that Bcrp1 gene expression alone defines the SP stem cell phenotype, and suggest that the physiological function of Bcrp1 expression in HSCs is to provide protection from cytotoxic substrates...
- Jablonski M, Lu L, Wang X, Chesler E, Carps E, Qi S, et al. The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1. Mol Vis. 2004;10:577-87 pubmed..Homozygous mutant mice have a selective and severe effect on lens integrity. On the basis of the phenotype and the locus position, several candidate genes have been identified. ..
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