Gene Symbol: SLC25A18
Description: solute carrier family 25 (glutamate carrier), member 18
Alias: GC2, glutamate/H(+) symporter 2, mitochondrial glutamate carrier 2, solute carrier family 25 (mitochondrial carrier), member 18
Species: human

Top Publications

  1. pmc Temporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturation
    Padmaja Tummala
    Eye Research Institute, Oakland University, Rochester, MI 48309 4401, USA
    Mol Vis 16:252-71. 2010
  2. pmc Gitelman syndrome
    Nine V A M Knoers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Orphanet J Rare Dis 3:22. 2008
  3. doi Cationic and neutral amino acid transporter transcript abundances are differentially expressed in the equine intestinal tract
    A D Woodward
    Department of Animal Science, Michigan State University, East Lansing 48824, USA
    J Anim Sci 88:1028-33. 2010
  4. ncbi The Role of the Sodium-Taurocholate Cotransporting Polypeptide (NTCP) and of the Bile Salt Export Pump (BSEP) in Physiology and Pathophysiology of Bile Formation
    Bruno Stieger
    Division of Clinical Pharmacology and Toxicology, University Hospital, 8091, Zurich, Switzerland
    Handb Exp Pharmacol 201:205-59. 2011
  5. ncbi Plasma concentrations of 25-hydroxy-vitamin D and 1,25-dihydroxy-vitamin D are related to the phenotype of Gc (vitamin D-binding protein): a cross-sectional study on 595 early postmenopausal women
    A L Lauridsen
    Department of Clinical Biochemistry, NBG, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark
    Calcif Tissue Int 77:15-22. 2005
  6. ncbi cDNAs from Onchocerca sp. encoding members of the MRS3/MRS4 class of mitochondrial solute carriers
    J Catmull
    Department of Biochemistry and Molecular Biology, James Cook University of North Queensland, Townsville, Australia
    Biochim Biophys Acta 1282:179-81. 1996
  7. doi Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells
    Allison J Pang
    Department of Biochemistry, University of Toronto, 1 King s College Circle, Medical Sciences Building, Toronto, Canada, M5S 1A8
    Biochem J 421:345-56. 2009
  8. doi Common variants of four bilirubin metabolism genes and their association with serum bilirubin and coronary artery disease in Chinese Han population
    Rong Lin
    State Key Laboratory of Genetic Engineering, School of Life Sciences, Institute of Biomedical Sciences, Fudan University, and Ruijin Hospital, Shanghai, China
    Pharmacogenet Genomics 19:310-8. 2009
  9. pmc Xenobiotic, bile acid, and cholesterol transporters: function and regulation
    Curtis D Klaassen
    Department of Pharmacology, Toxicology, and Therapeutics, University of Kansas Medical Center, 3901 Rainbow Blvd, Kansas City, KS 66160 7417, USA
    Pharmacol Rev 62:1-96. 2010
  10. ncbi Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct
    Katarzyna Maciaszczyk
    Department of Otolaryngology, Medical University of Lodz, University Hospital No 1, Lodz, Poland
    Neuro Endocrinol Lett 29:29-36. 2008

Detail Information

Publications189 found, 100 shown here

  1. pmc Temporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturation
    Padmaja Tummala
    Eye Research Institute, Oakland University, Rochester, MI 48309 4401, USA
    Mol Vis 16:252-71. 2010
    ..Some of these elusive gene activation events can be detected by mapping changes in RNA polymerase-II (Pol-II) association around transcription start sites...
  2. pmc Gitelman syndrome
    Nine V A M Knoers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Orphanet J Rare Dis 3:22. 2008
    ..Cardiac work-up should be offered to screen for risk factors of cardiac arrhythmias. All GS patients are encouraged to maintain a high-sodium and high potassium diet. In general, the long-term prognosis of GS is excellent...
  3. doi Cationic and neutral amino acid transporter transcript abundances are differentially expressed in the equine intestinal tract
    A D Woodward
    Department of Animal Science, Michigan State University, East Lansing 48824, USA
    J Anim Sci 88:1028-33. 2010
    ..Results indicate that the large intestine might contribute to both cationic and neutral AA uptake and absorption predominantly via transporters LAT-3 and b(0,+)AT...
  4. ncbi The Role of the Sodium-Taurocholate Cotransporting Polypeptide (NTCP) and of the Bile Salt Export Pump (BSEP) in Physiology and Pathophysiology of Bile Formation
    Bruno Stieger
    Division of Clinical Pharmacology and Toxicology, University Hospital, 8091, Zurich, Switzerland
    Handb Exp Pharmacol 201:205-59. 2011
    ..It is, however, subject to inhibition by endogenous metabolites or by drugs. A sustained inhibition will lead to acquired cholestasis, which can end in liver injury...
  5. ncbi Plasma concentrations of 25-hydroxy-vitamin D and 1,25-dihydroxy-vitamin D are related to the phenotype of Gc (vitamin D-binding protein): a cross-sectional study on 595 early postmenopausal women
    A L Lauridsen
    Department of Clinical Biochemistry, NBG, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark
    Calcif Tissue Int 77:15-22. 2005
    ..between women with different Gc phenotype, being highest in Gc1-1, intermediate in Gc1-2, and lowest in Gc2-2...
  6. ncbi cDNAs from Onchocerca sp. encoding members of the MRS3/MRS4 class of mitochondrial solute carriers
    J Catmull
    Department of Biochemistry and Molecular Biology, James Cook University of North Queensland, Townsville, Australia
    Biochim Biophys Acta 1282:179-81. 1996
    ..elegans, but levels of identity between these and the Onchocerca proteins were considerably lower. Consideration of cysteine content and overall charge implies that the natural substrates of the nematode proteins are small ions...
  7. doi Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells
    Allison J Pang
    Department of Biochemistry, University of Toronto, 1 King s College Circle, Medical Sciences Building, Toronto, Canada, M5S 1A8
    Biochem J 421:345-56. 2009
    ..The results indicate that AE1 and GPA form a complex in the ER of human K562 cells, but that both proteins can also traffic to the cell surface independently of each other...
  8. doi Common variants of four bilirubin metabolism genes and their association with serum bilirubin and coronary artery disease in Chinese Han population
    Rong Lin
    State Key Laboratory of Genetic Engineering, School of Life Sciences, Institute of Biomedical Sciences, Fudan University, and Ruijin Hospital, Shanghai, China
    Pharmacogenet Genomics 19:310-8. 2009
  9. pmc Xenobiotic, bile acid, and cholesterol transporters: function and regulation
    Curtis D Klaassen
    Department of Pharmacology, Toxicology, and Therapeutics, University of Kansas Medical Center, 3901 Rainbow Blvd, Kansas City, KS 66160 7417, USA
    Pharmacol Rev 62:1-96. 2010
    ..Transporters are important transmembrane proteins that mediate the cellular entry and exit of a wide range of substrates throughout the body and thereby play important roles in human physiology, pharmacology, pathology, and toxicology...
  10. ncbi Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct
    Katarzyna Maciaszczyk
    Department of Otolaryngology, Medical University of Lodz, University Hospital No 1, Lodz, Poland
    Neuro Endocrinol Lett 29:29-36. 2008
    ..e., IVS8+1G-A, in a total of 55% of the patients with recognised mutation of SLC26A4 gene; the remaining 45% of changes of this gene are unique mutations...
  11. doi Malignant fibrous histiocytoma--pleomorphic sarcoma, NOS gene expression, histology, and clinical course. A pilot study
    Adrien Daigeler
    Department of Plastic Surgery, Burn Center, Hand Surgery, Sarcoma Reference Center, BG University Hospital Bergmannsheil, Ruhr University Bochum, Burkle de la Camp Platz 1, 44789, Bochum, Germany
    Langenbecks Arch Surg 395:261-75. 2010
    ..This study focused on these tumors and analyzed the association of gene expression profiles to clinical outcome...
  12. doi Lactation stage-dependent expression of transporters in rat whole mammary gland and primary mammary epithelial organoids
    Samuel E Gilchrist
    University of British Columbia, Vancouver, Canada
    Fundam Clin Pharmacol 24:205-14. 2010
  13. pmc Polyamine transport is mediated by both endocytic and solute carrier transport mechanisms in the gastrointestinal tract
    Takeshi Uemura
    The Arizona Cancer Center, University of Arizona, Tucson, USA
    Am J Physiol Gastrointest Liver Physiol 299:G517-22. 2010
  14. ncbi Cytidine-5'-diphosphocholine (citicoline) improves retinal and cortical responses in patients with glaucoma
    V Parisi
    Cattedra di Clinica Oculistica, Universita di Roma Tor Vergata, Rome, Italy
    Ophthalmology 106:1126-34. 1999
    ..To evaluate the effects of cytidine-5'-diphosphocholine (citicoline) on retinal function and on cortical responses in patients with glaucoma...
  15. doi Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations
    Rong Lin
    Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, China
    Hum Mutat 30:609-15. 2009
    ..Finally, we observed that significant differences of TBIL levels existed among the three populations; however, this could not be completely explained by the differences at the (TA)n repeat polymorphism and SNP rs4148323:G>A...
  16. doi Effect of polymorphisms in candidate genes on reproduction traits in Finnish pig populations
    A I Sironen
    Agrifood Research Finland, MTT, Biotechnology and Food Research, Genomics, FI 36100 Jokioinen, Finland
    J Anim Sci 88:821-7. 2010
    ..These results support the suitability of the candidate gene approach for identification of markers to improve the reproductive performance of sows and to provide potential markers for marker-assisted selection...
  17. pmc Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail
    Ulrika Gunnarsson
    Department of Medical Biochemistry and Microbiology, Uppsala University, SE 75124 Uppsala, Sweden
    Genetics 175:867-77. 2007
    ..It is an enigma why recessive null mutations at this locus cause an almost complete absence of both eumelanin and pheomelanin whereas some missense mutations are dominant and cause a specific inhibition of pheomelanin production...
  18. ncbi Variations in equid SLC11A1 (NRAMP1) genes and associations with Rhodococcus equi pneumonia in horses
    Natalie D Halbert
    Department of Large Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A and M University, College Station 77843 4475, USA
    J Vet Intern Med 20:974-9. 2006
    ..equi foal pneumonia and other intracellular bacterial diseases affecting equids...
  19. pmc Subtype-specific regulation of equilibrative nucleoside transporters by protein kinase CK2
    Meaghan Stolk
    Department of Physiology and Pharmacology, University of Western Ontario, London, Ontario, Canada N6A 5C1
    Biochem J 386:281-9. 2005
  20. ncbi Rod outer segment membrane guanylate cyclase type 1-linked stimulatory and inhibitory calcium signaling systems in the pineal gland: biochemical, molecular, and immunohistochemical evidence
    V Venkataraman
    The Unit of Regulatory and Molecular Biology, Departments of Cell Biology and Ophthalmology, University of Medicine and Dentistry of New Jersey, Stratford, New Jersey 08084, USA
    Biochemistry 39:6042-52. 2000
    ..The presence of ROS-GC2 was not detected in the pineal gland...
  21. pmc Vitamin D binding protein genotype and osteoporosis
    Yue Fang
    Department of Internal Medicine, Erasmus Medical Center, Genetic Laboratory, Rotterdam, The Netherlands
    Calcif Tissue Int 85:85-93. 2009
    ..Haplotypes of the DBP SNPs correspond to protein variations referred to as Gc1s (haplotype 1), Gc2 (haplotype 2), and Gc1f (haplotype3)...
  22. ncbi Functional insights into the creatine transporter
    David L Christie
    Molecular, Cell and Developmental Biology Section, School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand
    Subcell Biochem 46:99-118. 2007
    ..Development of suitable mouse models may allow improved understanding of the importance of the CRT for normal brain function and how the transporter is regulated in vivo...
  23. pmc Analysis and update of the human solute carrier (SLC) gene superfamily
    Lei He
    Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, MA 02114, USA
    Hum Genomics 3:195-206. 2009
    ..Understanding and characterising the functions of these transporters is relevant to medicine, genetics, developmental biology, pharmacology and cancer chemotherapy...
  24. pmc Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions
    Abee L Boyles
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Environ Health Perspect 114:1547-52. 2006
    ..Most studies addressed these genes individually, often with different populations providing conflicting results...
  25. ncbi The C-terminus of prestin influences nonlinear capacitance and plasma membrane targeting
    Jing Zheng
    Auditory Physiology Laboratory, Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL 60208 USA
    J Cell Sci 118:2987-96. 2005
    ..Together, these data suggest that certain specific sequences and individual amino acids in the C-terminus are necessary for correct cellular distribution and function...
  26. ncbi Solute carrier family 11 member A1 gene polymorphisms in reactive arthritis
    Yi Jing Chen
    Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
    J Clin Immunol 27:46-52. 2007
    ..The SLC 11A1 274T 823C 1703G 1729+55 del 4 TGTG+ haplotype is associated with the development of reactive arthritis in Taiwan. In contrast, the SLC 11A1 274C 823T 1703G 1729+55 del 4 TGTG+ haplotype may be a protective factor...
  27. pmc A perchlorate sensitive iodide transporter in frogs
    Deborah L Carr
    Department of Cell Physiology and Molecular Biophysics, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, USA
    Gen Comp Endocrinol 156:9-14. 2008
    ..We conclude that the amphibian sequence encodes a protein that is indeed a functional Na(+)/iodide symporter in X. laevis, as well as R. catesbeiana...
  28. doi Efficacy of in-feed probiotics against Aeromonas bestiarum and Ichthyophthirius multifiliis skin infections in rainbow trout (Oncorhynchus mykiss, Walbaum)
    N Pieters
    School of Life Sciences, Heriot Watt University, Edinburgh, UK
    J Appl Microbiol 105:723-32. 2008
    ..The aim of this study was to assess the efficacy of in-feed probiotics as a preventive measure against skin infections caused by Aeromonas bestiarum and Ichthyophthirius multifiliis (Ich) in rainbow trout...
  29. pmc Human solute carrier SLC6A14 is the beta-alanine carrier
    Catriona M H Anderson
    Institute for Cell and Molecular Biosciences, Faculty of Medical Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, UK
    J Physiol 586:4061-7. 2008
  30. ncbi Female premenopausal fracture risk is associated with gc phenotype
    Anna Lis Lauridsen
    Department of Clinical Biochemistry, AKH, Aarhus University Hospital, Aarhus C, Denmark
    J Bone Miner Res 19:875-81. 2004
    ..This was concluded from a study on 595 Danish perimenopausal women 45-58 years of age (30,040 person years)...
  31. pmc Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter
    Shoji Fukamachi
    Department of Integrated Biosciences, University of Tokyo, Chiba, Japan
    Genetics 178:761-9. 2008
    ..Further studies of the 0.9-kb promoter identified in this study should provide insights into the cis/trans-regulatory mechanisms underlying the ocular and cutaneous expression of slc45a2...
  32. ncbi Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types
    A Braun
    Institut für Anthropologie und Humangenetik Universität, Munchen, Federal Republic of Germany
    Hum Genet 89:401-6. 1992
    ..The GC2 and GC1F phenotypes have an aspartic acid residue at amino acid position 416, whereas the GC1S phenotype has a ..
  33. pmc Pre-steady-state currents in neutral amino acid transporters induced by photolysis of a new caged alanine derivative
    Zhou Zhang
    Department of Physiology and Biophysics, University of Miami School of Medicine, 1600 Northwest 10th Avenue, Miami, Florida 33136, USA
    Biochemistry 46:3872-80. 2007
    ..The implications of these results for the mechanisms of transmembrane transport of alanine are discussed. The new caged alanine derivative will provide a useful tool for future, more detailed studies of neutral amino acid transport...
  34. doi Expression of human organic cation transporter 3 in kidney carcinoma cell lines increases chemosensitivity to melphalan, irinotecan, and vincristine
    Volodymyr Shnitsar
    Abteilung Vegetative Physiologie und Pathophysiologie, Georg August Universitat, Gottingen, Germany
    Cancer Res 69:1494-501. 2009
    ..Thus, our data support the hypothesis that the sensitivity of tumor cells to chemotherapeutic treatment depends on the expression of transporter proteins mediating specific drug accumulation into target cells...
  35. ncbi Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments
    Andreas Helten
    Biochemistry Group, Institute of Biology and Environmental Sciences, Faculty V, Carl von Ossietzky University Oldenburg, Oldenburg, Germany
    J Neurochem 103:1439-46. 2007
    ..two types of a membrane bound guanylate cyclase (GC), rod outer segment guanylate cyclase type 1 (ROS-GC1) and ROS-GC2. Both enzymes are regulated by small Ca(2+)-binding proteins named GC-activating proteins that operate as Ca2+ ..
  36. ncbi Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival
    Sotiria Sotiriou
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Nat Med 8:514-7. 2002
    ..Deficiency of the transporter is lethal in newborn mice, thereby revealing a previously unrecognized requirement for ascorbic acid in the perinatal period...
  37. doi Comprehensive two-dimensional gas chromatography combustion isotope ratio mass spectrometry
    Herbert J Tobias
    Division of Nutritional Sciences, Cornell University, Savage Hall, Ithaca, New York 14853, USA
    Anal Chem 80:8613-21. 2008
    ..interface to preserve <300 ms full width at half-maximum (fwhm) fast GC peaks generated on the second GC column (GC2)...
  38. ncbi Role of major histocompatibility complex class II in resistance of mice to naturally acquired infection with Syphacia obvelata
    Patricia W Stewart
    Department of Diagnostic Medicine and Pathobiology, College of Veterinary Medicine, 1800 Denison Ave, Kansas State University, Manhattan, Kansas 66506, USA
    Comp Med 53:70-4. 2003
    ..obvelata. These data justify further comprehensive analyses of the immune components that are involved in pinworm resistance...
  39. doi Associations of a non-synonymous variant in SLC2A9 with gouty arthritis and uric acid levels in Han Chinese subjects and Solomon Islanders
    Hung Pin Tu
    Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
    Ann Rheum Dis 69:887-90. 2010
    ..To study the associations of gout, tophi and uric acid levels with the gout-related SLC2A9 (solute carrier family 2, member 9) single nucleotide polymorphisms (SNPs) between two different racial groups...
  40. doi Involvement of human multidrug and toxin extrusion 1 in the drug interaction between cimetidine and metformin in renal epithelial cells
    Masahiro Tsuda
    Department of Pharmacy, Kyoto University Hospital, Sakyo ku, Kyoto 606 8507, Japan
    J Pharmacol Exp Ther 329:185-91. 2009
    ..These results suggest that apical hMATE1 is involved in drug interactions between cimetidine and cationic compounds in the proximal tubular epithelial cells...
  41. doi Complex profiles of hydrophobic paralytic shellfish poisoning compounds in Gymnodinium catenatum identified by liquid chromatography with fluorescence detection and mass spectrometry
    Paulo Vale
    Instituto Nacional dos Recursos Biologicos IPIMAR, Avenida de Brasília s n, 1449 006 Lisbon, Portugal
    J Chromatogr A 1195:85-93. 2008
    ..fractions by LC-MS demonstrated the second sub-group was constituted by analogues of the 11-hydroxysulfated GC1/GC2, while the third sub-group was constituted by analogues of GC3, which lack the 11-hydroxysulfate...
  42. ncbi Function and mechanism of action of Dictyostelium Nramp1 (Slc11a1) in bacterial infection
    Barbara Peracino
    Department of Clinical and Biological Sciences, University of Turin, Orbassano, Italy
    Traffic 7:22-38. 2006
    ..pneumophila infection. Evidence is provided that Nramp1 transports metal cations out of the phagolysosome in an ATP-dependent process and that L. pneumophila and M. avium use different mechanisms to neutralize Nramp1 activity...
  43. pmc Functionally important amino acids in the Arabidopsis thylakoid phosphate transporter: homology modeling and site-directed mutagenesis
    Lorena Ruiz-Pavón
    Division of Molecular Genetics, Department of Physics, Chemistry, and Biology, Linkoping University, Linkoping, Sweden
    Biochemistry 49:6430-9. 2010
    ..Functional characterization of ANTR1 should provide useful insights into the function of other plant and mammalian SLC17 homologous transporters...
  44. doi Clinical implications of pharmacogenetic variation on the effects of statins
    Simran D S Maggo
    Department of Pharmacology and Toxicology, School of Medical Sciences, University of Otago, Dunedin, New Zealand
    Drug Saf 34:1-19. 2011
  45. doi Complex multifactorial nature of significant hyperbilirubinemia in neonates
    Jon F Watchko
    Division of Newborn Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
    Pediatrics 124:e868-77. 2009
  46. ncbi Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance
    Maria Pia Sperandeo
    Dept of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy
    Am J Physiol Cell Physiol 293:C191-8. 2007
    ..This mouse model offers new insights into the pathophysiology of LPI and into mechanisms linking CAA metabolic pathways and growth control...
  47. pmc The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors
    Wolfgang Baehr
    Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah 84112, USA
    J Biol Chem 282:8837-47. 2007
    Retinal guanylate cyclases 1 and 2 (GC1 and GC2) are responsible for synthesis of cyclic GMP in rods and cones, but their individual contributions to phototransduction are unknown...
  48. doi The solute carrier 44A1 is a mitochondrial protein and mediates choline transport
    Vera Michel
    Department of Human Health and Nutritional Sciences, University of Guelph, Guelph, ON, N1G 2W1, Canada
    FASEB J 23:2749-58. 2009
    ..SLC44A1 mRNA and protein expression were down-regulated during choline deficiency. These data clearly establish SLC44A1 as an important mediator of choline transport across both the plasma membrane and the mitochondrial membrane...
  49. ncbi SLC45A2 variations in Indian oculocutaneous albinism patients
    Mainak Sengupta
    Molecular and Human Genetics Division, Indian Institute of Chemical Biology, Kolkata, West Bengal, India
    Mol Vis 13:1406-11. 2007
    ..Interestingly, in almost 31% of the cases, the second mutation has never been found. The purpose of this study was to investigate the molecular basis of OCA among Indians using SLC45A2 as the candidate gene...
  50. pmc Cloning and functional expression of the first eukaryotic Na+-tryptophan symporter, AgNAT6
    Ella A Meleshkevitch
    Department of Physiology and Biophysics, Rosalind Franklin University of Medicine and Science, 3333 Green Bay Road, North Chicago, IL 60064, USA
    J Exp Biol 212:1559-67. 2009
  51. pmc The invertebrate B(0) system transporter, D. melanogaster NAT1, has unique d-amino acid affinity and mediates gut and brain functions
    Melissa M Miller
    The Whitney Laboratory for Marine Bioscience, University of Florida, St Augustine, FL 32080, USA
    Insect Biochem Mol Biol 38:923-31. 2008
    ..These findings suggest that some members of the NAT-SLC6 subfamily are evolving specific properties which contribute to nutrient symbiotic relationships and neuronal functions...
  52. ncbi Genome-wide gene expression profiling reveals renal genes regulated during metabolic acidosis
    Marta Nowik
    Institute of Physiology and Zurich Center for Human Integrative Physiology ZIHP, University of Zurich
    Physiol Genomics 32:322-34. 2008
    ..Our analysis suggests that many of these genes may participate in various processes leading to adaptation and restoration of normal systemic acid-base and electrolyte homeostasis...
  53. doi Hepatocyte nuclear factor-4alpha and bile acids regulate human concentrative nucleoside transporter-1 gene expression
    Kerstin Klein
    Division of Clinical Pharmacology and Toxicology, Department of Internal Medicine, University Hospital, Ramistrasse 100, CH 8091 Zurich, Switzerland
    Am J Physiol Gastrointest Liver Physiol 296:G936-47. 2009
    ..Supporting the physiological relevance and species conservation of this effect, ileal Cnt1 mRNA expression was decreased upon bile acid feeding and increased upon bile duct ligation in mice...
  54. doi The evolutionary history and tissue mapping of amino acid transporters belonging to solute carrier families SLC32, SLC36, and SLC38
    Björn E Sundberg
    Department of Neuroscience, Functional Pharmacology, Uppsala University, BMC, P O Box 593, 751 24, Uppsala, Sweden
    J Mol Neurosci 35:179-93. 2008
    ..In addition, we performed a detailed expression analysis of SLC38A1 and SLC38A6 in mouse brain using in situ hybridization, which showed that both these transporters are widely expressed in the brain...
  55. doi Mechanisms of renal anionic drug transport
    Azza A K El-Sheikh
    Department of Pharmacology and Toxicology, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, The Netherlands
    Eur J Pharmacol 585:245-55. 2008
  56. doi Intratesticular localization of the organic solute carrier protein, OSCP1, in spermatogenic cells in mice
    Kazuyuki Hiratsuka
    Toxicology Laboratory, Pharmaceutical Research Center, Meiji Seika Kaisha, Ltd, Kanagawa, Japan
    Mol Reprod Dev 75:1495-504. 2008
    ..These results suggest that mouse testis OSCP1 may indirectly mediate substrate uptake into meiotic and spermiogenic germ cells, within the cytosol...
  57. doi Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21
    Sian E Piret
    Academic Endocrine Unit, Oxford Centre for Diabetes Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Headington, Oxford, OX3 7LJ, UK
    Hum Genet 129:51-8. 2011
    ..FJHN3 is likely located within a approximately 5.5 Mbp interval on chromosome 2p22.1-p21, and identifying the genetic abnormality will help to further elucidate mechanisms predisposing to gout and renal failure...
  58. doi Significant reduction of the GLUT3 level, but not GLUT1 level, was observed in the brain tissues of several scrapie experimental animals and scrapie-infected cell lines
    Yu E Yan
    Department of Neurology, Xijing Hospital, The Fourth Military Medical University, No 15, Changle West Road, Xi an, 710032, People s Republic of China
    Mol Neurobiol 49:991-1004. 2014
    ..Defect in glucose uptake and metabolism of neurons, like in other neurodegenerative diseases, for example, Alzheimer's disease (AD), may be one of the essential processes in the pathogenesis of prion diseases...
  59. pmc Vascular smooth muscle cell proliferation depends on caveolin-1-regulated polyamine uptake
    Mario Grossi
    Department of Experimental Medical Science, Lund University, Lund, Sweden
    Biosci Rep 34:e00153. 2014
    ..We provide proof-of-principle for targeting Cav-1-regulated polyamine uptake as a strategy to fight unwanted VSMC proliferation as observed in restenosis. ..
  60. doi Association of a SLC30A8 genetic variant with monotherapy of repaglinide and rosiglitazone effect in newly diagnosed type 2 diabetes patients in China
    Feng Jiang
    Department of Endocrinology and Metabolism, Shanghai Jiao Tong University Affiliated Sixth People s Hospital, Shanghai, China
    Biomed Environ Sci 25:23-9. 2012
    ..To investigate a potential relationship between Solute carrier family 30 (zinc transporter) member 8 (SLC30A8) rs13266634 variant and efficacy of rosiglitazone or repaglinide in treating newly diagnosed Chinese type 2 diabetes patients...
  61. ncbi Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes
    K Imai
    Department of Molecular Biology, Institute of Cellular and Molecular Biology, Okayama University Medical School, Okayama 700 8558, Japan
    Gene 222:287-95. 1998
    ..This paper demonstrates for the first time the spatial relationship of these three genes (TSC2, NTHL1 and SLC9A3R2) at the nucleotide level, and the presence of multiple transcription initiation sites of the NTHL1 and TSC2 genes...
  62. doi Insulin acutely triggers transcription of Slc2a4 gene: participation of the AT-rich, E-box and NFKB-binding sites
    Paulo Alexandre Moraes
    Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil
    Life Sci 114:36-44. 2014
    ..This study investigated the effect of insulin upon Slc2a4/GLUT4 expression, focusing on the AT-rich element, E-box and nuclear factor NF-kappa-B (NFKB) site...
  63. doi No impact of SLCO1B1 521T>C, 388A>G and 411G>A polymorphisms on response to statin therapy in the Greek population
    E Giannakopoulou
    Laboratory of Pharmacology, Medical School, Democritus University of Thrace, Dragana Campus, 68100, Alexandroupolis, Greece
    Mol Biol Rep 41:4631-8. 2014
    ..Further studies in different populations are required to draw firm conclusion on the potential association of SLCO1B1 polymorphisms with statin lipid-lowering response...
  64. doi The mammalian copper transporters CTR1 and CTR2 and their roles in development and disease
    Natalie K Y Wee
    Discipline of Physiology and Bosch Institute, Sydney Medical School, University of Sydney, Medical Foundation Building, Parramatta Road, Camperdown, NSW 2020, Australia
    Int J Biochem Cell Biol 45:960-3. 2013
    ..This review summarises our current understanding of these two copper transporters and highlights their roles in cellular processes, embryonic development, differentiation, cancer, immunity and disease...
  65. doi Association of polymorphisms in solute carrier family 27, isoform A6 (SLC27A6) and fatty acid-binding protein-3 and fatty acid-binding protein-4 (FABP3 and FABP4) with fatty acid composition of bovine milk
    R A Nafikov
    Department of Animal Science, Iowa State University, Ames, Iowa 50011, USA
    J Dairy Sci 96:6007-21. 2013
    ..In conclusion, polymorphisms in FABP4 and SLC27A6 can be used to select for cattle producing milk with lower concentrations of SFA and higher concentrations of UFA...
  66. doi A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessi
    Roseli Maria Zechi-Ceide
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of Sao Paulo HRAC USP, Bauru, Sao Paulo, Brazil
    Am J Med Genet A 161:2088-94. 2013
    ..The distinct phenotype of our cases reinforces the hypothesis that other factors may be influencing the phenotype as previously suggested...
  67. doi Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy
    Ruhong Cheng
    Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Kongjiang Road No 1665, Shanghai 200092, China
    Eur J Dermatol 23:636-9. 2013
    ..Mutations in the 15-hydroxy-prostaglandin dehydrogenase (HPGD) gene and solute carrier organic anion transporter family member 2A1 (SLCO2A1) gene have been demonstrated to be pathogenic causes...
  68. doi Thiamin function, metabolism, uptake, and transport
    Sergio Manzetti
    Uppsala Center for Computational Chemistry, Science for Life Laboratory, Department for Cell and Molecular Biology, University of Uppsala, Box 596, 751 24 Uppsala, Sweden
    Biochemistry 53:821-35. 2014
    ..This review includes recent data on thiamin metabolism, related deficiencies and pathologies, and the latest findings on thiamin binding transporters. ..
  69. doi Glucose transporter type I deficiency causing mitochondrial dysfunction
    Jeremy Lankford
    Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, TX, USA
    J Child Neurol 27:796-8. 2012
    ..Delayed diagnosis led to delayed treatment, and neurologic sequelae may have been prevented by earlier recognition of this disorder...
  70. pmc SLC39A2 and FSIP1 polymorphisms as potential modifiers of arsenic-related bladder cancer
    Margaret R Karagas
    Section of Biostatistics and Epidemiology, Dartmouth Medical School, Lebanon, NH 03756, USA
    Hum Genet 131:453-61. 2012
    ..03). Our findings suggest novel variants that may influence risk of arsenic-associated bladder cancer and those who may be at greatest risk from this widespread exposure...
  71. pmc Apical sodium dependent bile acid transporter (ASBT, SLC10A2): a potential prodrug target
    Anand Balakrishnan
    Department of Pharmaceutical Sciences, School of Pharmacy, University of Maryland, Baltimore, Maryland 21201, USA
    Mol Pharm 3:223-30. 2006
    ..Additionally, hASBT-mediated prodrug targeting is discussed, including QSAR, in vitro models for hASBT assay, and the current progress in utilizing hASBT as a drug delivery target...
  72. doi Phosphate transporters in renal, gastrointestinal, and other tissues
    Ian Forster
    Institute of Physiology, Zurich Center for Integrative Human Physiology, University of Zurich, Switzerland
    Adv Chronic Kidney Dis 18:63-76. 2011
    ..Because less complex model organisms are often instrumental in establishing paradigms for protein function in human beings, a brief assessment of Slc34 and Slc20 phylogeny is of interest...
  73. doi A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds
    Hiruni R Wijesena
    From the Department of Animal and Poultry Science, University of Saskatchewan, Saskatoon S7N 5A8, Canada Wijesena and Schmutz
    J Hered 106:285-8. 2015
    ..G493D is a deleterious substitution, and a topology prediction for SLC45A2 suggests that the 11th transmembrane domain where the 493rd amino acid was located, has an altered structure. ..
  74. pmc Identification of a redox-modulatory interaction between uncoupling protein 3 and thioredoxin 2 in the mitochondrial intermembrane space
    Katsuya Hirasaka
    Division of Pharmacology Toxicology, University of Texas at Austin, Austin, Texas 78714, USA
    Antioxid Redox Signal 15:2645-61. 2011
  75. pmc Browning of white adipose tissue uncouples glucose uptake from insulin signaling
    Karin Mössenböck
    Joint Division Molecular Metabolic Control, DKFZ ZMBH Alliance and Network Aging Research, German Cancer Research Center DKFZ Heidelberg, Center for Molecular Biology ZMBH and University Hospital, Heidelberg University, Heidelberg, Germany
    PLoS ONE 9:e110428. 2014
    ..These results for the first time demonstrate that insulin signaling is neither essential for brite recruitment, nor is it improved in cells or tissues upon browning. ..
  76. doi Solute carrier transporters as targets for drug delivery and pharmacological intervention for chemotherapy
    Takeo Nakanishi
    Department of Membrane Transport and Biopharmaceutics, Faculty of Pharmacy, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kakuma machi, Kanazawa 920 1192, Japan
    J Pharm Sci 100:3731-50. 2011
    ..Therefore, it is important to understand the pathophysiological significance and gene expression in cancer to develop new rationales for drug delivery and pharmacological interventions for chemotherapy...
  77. pmc MicroRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene
    Austin E Gillen
    Human Molecular Genetics Program, Children s Memorial Research Center, Chicago, IL 60614, USA
    Biochem J 438:25-32. 2011
  78. pmc A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations
    Louise M Downs
    Canine Genetics, Animal Health Trust, Newmarket, United Kingdom
    PLoS ONE 6:e21452. 2011
    ..SLC4A3 is important for retinal function and has not previously been associated with spontaneously occurring retinal degenerations in any other species, including humans...
  79. ncbi Alternative transcripts of rat slc19a1: defective sorting and inefficient expression of alternative splicing products--an addendum
    Stephanie Schrader
    Pharmacy and Toxicology, Faculty of Veterinary Medicine, An den Tierkliniken 15, University of Leipzig, Institute of Pharmacology, Leipzig, 04103, Germany
    DNA Seq 17:83-6. 2006
    ..Instead, these proteins accumulated in intracellular granules, and were, apparently, degraded. Hence, it is unlikely that these minor splicing forms are directly involved in solute transport across the plasma membrane...
  80. doi Transport of dicationic drugs pentamidine and furamidine by human organic cation transporters
    Xin Ming
    Division of Molecular Pharmaceutics, Eshelman School of Pharmacy, 3309 Kerr Hall, CB 7360, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599 7360, USA
    Drug Metab Dispos 37:424-30. 2009
    ..These transporters may play important roles in the disposition of aromatic diamidines in humans, as well as resultant drug-drug interactions and toxicity involving diamidine drugs...
  81. doi Effects of waterborne cadmium on thyroid hormone levels and related gene expression in Chinese rare minnow larvae
    Zhi Hua Li
    Key Laboratory of Freshwater Biodiversity Conservation Ministry of Agriculture, Key Field Station for Fishery Resource and Environment in Upper Middle Reaches of Yangtze River Ministry of Agriculture, Yangtze River Fisheries Research Institute, Chinese Academy of Fishery Sciences, Wuhan 430223, China University of South Bohemia in Ceske Budejovice, Faculty of Fisheries and Protection of Waters, South Bohemian Research Center of Aquaculture and Biodiversity of Hydrocenoses, Research Institute of Fish Culture and Hydrobiology, Zatisi 728 II, 389 25 Vodnany, Czech Republic Electronic address
    Comp Biochem Physiol C Toxicol Pharmacol 161:53-7. 2014
    ..The above results indicated that Cd(2+) could alter gene expression in the HPT axis that might subsequently contribute to thyroid disruption. ..
  82. doi Quantitative expression of candidate genes affecting eggshell color
    Chuanwei Zheng
    College of Animal Science and Technology, China Agricultural University, Beijing, China
    Anim Sci J 85:506-10. 2014
    ..As such, we have identified seven genes in which expression levels in different tissues were associated with eggshell color. ..
  83. doi Physiology of na+/h+ exchangers in the male reproductive tract: relevance for male fertility
    Ana D Martins
    CICS UBI Health Sciences Research Centre, University of Beira Interior, Covilha, Portugal Department of Microscopy, Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar ICBAS and Unit for Multidisciplinary Investigation in Biomedicine UMIB, University of Porto, Porto, Portugal
    Biol Reprod 91:11. 2014
  84. doi Possible association of SLC22A2 polymorphisms with aspirin-intolerant asthma
    Tae Joon Park
    Department of Life Science, Sogang University, Seoul, Republic of Korea
    Int Arch Allergy Immunol 155:395-402. 2011
    ..Recently, SLC22A2-mediated uptake inhibition by several nonsteroidal anti-inflammatory drugs and decreased SLC22A2 transport activity by its genetic variants have been elucidated in asthma...
  85. doi N-glycosylation and topology of the human SLC26 family of anion transport membrane proteins
    Jing Li
    Department of Biochemistry, University of Toronto, Toronto, Ontario, Canada
    Am J Physiol Cell Physiol 306:C943-60. 2014
  86. ncbi [Effects of quercetin on multidrug resistance and expression of related genes in human erythroleukemic K562/a cells]
    Yan Qiu Han
    Department of Hematology, Inner Mongolian Medical College Affiliated Hospital, Inner Mongolian Autonomus Region, China
    Zhongguo Shi Yan Xue Ye Xue Za Zhi 19:884-9. 2011
    ..It is concluded that quercetin reverses MDR of leukemic cells by multiple mechanisms and the reversing effect is positively related to drug concentration...
  87. doi Solute Carrier Family 19, member 1 (SLC19A1) polymorphisms (-43T>C, 80G>A, and 696C>T), and haplotypes in idiopathic recurrent spontaneous abortion in a Korean population
    Hyungchul Rah
    Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea
    Reprod Sci 19:513-9. 2012
    ..05 for each). The associations between idiopathic RSA occurrence and SLC19A1 -43T>C/80G>A/696C>T polymorphisms were identified and can be developed as biomarkers for RSA risk...
  88. doi Scanning electron microscopy and microbiological evaluation of equine burn wound repair after platelet-rich plasma gel treatment
    Felipe B Maciel
    Department of Veterinary Medicine Surgery and Anesthesiology, Faculty of Veterinary Medicine and Animal Science, Federal University of Mato Grosso do Sul, Campo Grande, Brazil
    Burns 38:1058-65. 2012
    ..Control groups (Gc1 and Gc2) were treated with saline solution. DSDb were made by infliction of hot iron after epidermis dissection...
  89. ncbi Membrane transporters as determinants of the pharmacology of platinum anticancer drugs
    Johnson J Liu
    Department of Pharmacology and Clinical Pharmacology, and the Auckland Cancer Society Research Centre, School of Medical Sciences, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand
    Curr Cancer Drug Targets 12:962-86. 2012
  90. doi Pathophysiological regulation of renal SLC22A organic ion transporters in acute kidney injury: pharmacological and toxicological implications
    Hideyuki Saito
    Department of Pharmacy, Kumamoto University Hospital, Kumamoto University, 1 1 1 Honjo, Kumamoto, Kumamoto 860 8556, Japan
    Pharmacol Ther 125:79-91. 2010
    ..Such analysis will provide a better understanding of the pathophysiological implications of SLC22A transporters...
  91. pmc Genome-wide significant association between a 'negative mood delusions' dimension in bipolar disorder and genetic variation on chromosome 3q26.1
    S Meier
    Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, University of Heidelberg, Mannheim, Germany
    Transl Psychiatry 2:e165. 2012
    ..028, or=1.27)...
  92. doi Evidence that Na+/H+ exchanger 1 is an ATP-binding protein
    Naoko Shimada-Shimizu
    Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan
    FEBS J 280:1430-42. 2013
    ..These findings suggest that NHE1 is an ATP-binding transporter. Thus, ATP may serve as a direct activator of NHE1...
  93. pmc An SLC6 transporter of the novel B(0,)- system aids in absorption and detection of nutrient amino acids in Caenorhabditis elegans
    Ryan Metzler
    The Department of Physiology and Biophysics of the Rosalind Franklin University of Medicine and Science, Chicago Medical School, North Chicago, IL 60064, USA
    J Exp Biol 216:2843-57. 2013
    ..In addition to the predictable role in alimentary amino acid absorption, our results indicate possible neuronal roles of SNF-5 as an amino acid provider to specific neuronal functions, including sensing of amino acid availability. ..
  94. doi Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation
    Yuko Shima
    Department of Pediatrics, Wakayama Medical University, Wakayama City, Wakayama, 641 8509, Japan
    Pediatrics 127:e1621-5. 2011
    ..Our case shows that GLUT9, unlike URAT1, may play a specific role in exercise-induced PRES...
  95. doi UGT1A1*6 polymorphism is most predictive of severe neutropenia induced by irinotecan in Japanese cancer patients
    Masahide Onoue
    Department of Pharmacy, Kyoto University Hospital, Faculty of Medicine, Kyoto University, 54 Shogoin Kawahara cho, Sakyo ku, Kyoto, 606 8507, Japan
    Int J Clin Oncol 14:136-42. 2009
    ..In the present study, we evaluated the association of genetic polymorphisms of UGT1A1 and SLCO1B1 with irinotecanrelated neutropenia in Japanese cancer patients...
  96. doi OCTN2 is associated with carnitine transport capacity of rat skeletal muscles
    Y Furuichi
    Graduate School of Natural Science and Technology, Kanazawa University, Kakuma machi, Kanazawa City, Ishikawa, Japan
    Acta Physiol (Oxf) 200:57-64. 2010
    ..We tested the hypothesis that OCTN2 is expressed at higher levels in oxidative muscles than in other muscles, and that the carnitine uptake capacity of skeletal muscles depends on the amount of OCTN2...
  97. ncbi Isolation and functional characterization of a novel organic solute carrier protein, hOSCP1
    Yasuna Kobayashi
    Department of Clinical Pharmacy, School of Pharmaceutical Sciences, Showa University, Shinagawa ku, Tokyo, Japan
    J Biol Chem 280:32332-9. 2005
    ..Our results suggest that hOSCP1 is a novel polyspecific organic solute carrier protein responsible for drug clearance from the human placenta...
  98. ncbi A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
    O T Njajou
    Genetic Epidemiology Unit Department of Epidemiology and Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
    Nat Genet 28:213-4. 2001
    ..1-4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis...
  99. ncbi Investigation of the chromosome 17q25 PSORS2 locus in atopic dermatitis
    Nilesh Morar
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    J Invest Dermatol 126:603-6. 2006
    ..Haplotype analysis revealed no significant associations in either population. These results suggest that the psoriasis candidate genes do not account for previously observed linkage of the 17q25 PSORS2 locus to AD...
  100. doi Structure and topology of Slc11a1(164-191) with G169D mutation in membrane-mimetic environments
    Rong Xue
    State Key Laboratory of Supramolecular Structure and Materials, Jilin University, 2699 Qianjin Avenue, Changchun, Jilin 130012, People s Republic of China
    J Struct Biol 165:27-36. 2009

Research Grants62

  1. Structural Biology of the Apical Bile Acid Transporter.
    Peter W Swaan; Fiscal Year: 2012
  2. Comprehensive SNP Discovery in SLC2A9. A Candidate Gene for Uric Acid Nephropathy
    Venkata Saroja Voruganti; Fiscal Year: 2013
  3. Membrane Protein Trafficking in Photoreceptors
    Wolfgang Baehr; Fiscal Year: 2013
    ..In GC1/GC2 double knockout rods, PDE6 failed to transport whereas transducin (T) and opsin kinase (GRK1) were unaffected...
    Kathleen Giacomini; Fiscal Year: 2009
    ..These hypothesis generating studies will provide a framework for understanding the role of genetic variation in membrane transporters on clnical drug response. ..
  5. Bile Acids, Genetic Control and Colonic Function in Irritable Bowel Syndrome
    MICHAEL L CAMILLERI; Fiscal Year: 2013
  6. Molecular Genetics of Sideroblastic Anemia
    Mark D Fleming; Fiscal Year: 2013
    ..In both cases, we expect to learn more about mitochondrial iron metabolism, the SAs and approaches to therapy. ..
  7. Regulation of osteoclast biology by anion exchanger SLC4A2 in mouse and human sys
    Antonios O Aliprantis; Fiscal Year: 2013
  8. Mechanisms of Regulation Of NHE-1
    John R Raymond; Fiscal Year: 2012
    ..The work could lead to new therapies for hypertension, congestive heart failure, cardiomyopathies and kidney failure. ..
  9. Role of the Solute Carrier Gene Family in Hypertension
    Alanna C Morrison; Fiscal Year: 2012
  10. Blocking immune evasion as a novel immunotherapy for recurrent HSV-2 infection
    HARVEY MICHAEL FRIEDMAN; Fiscal Year: 2013
    ..a HSV-2 replication competent, attenuated live virus (gE2-del) and the other a trivalent subunit antigen vaccine (gC2/gD2/gE2)...
  11. A Mouse Model of Acrodermatitis Enteropathica
    Glen K Andrews; Fiscal Year: 2012
    ..In a global sense, these studies will contribute to our basic understanding of the molecular mechanisms governing the homeostasis of the essential metal zinc in mammals. ..
  12. Defining Antigenic Targets of Autoimmune Sensorineural Hearing Loss
    Thomas E Carey; Fiscal Year: 2013
    ..In Aim 3 we will study inner ear development, hearing, and balance in transgenic mice with defective CTL2. ..
  13. Molecular Genetics of Cadmium Toxicity
    Daniel W Nebert; Fiscal Year: 2010
  14. Structure and Function of Concentrative Nucleoside Transporters
    Seok Yong Lee; Fiscal Year: 2013
  15. Cationic Amino Acid Transport in Mosquitoes
    Immo Alex Hansen; Fiscal Year: 2012
  16. Biophysics and Development of Cochlear Hair Cells
    David Z Z He; Fiscal Year: 2013
    ..A radioisotope uptake technique will be used to determine whether the chimeric pendrin retains its transport function. The proposed experiments are significant for the fundamental understanding of how prestin and pendrin work. ..
  17. Investigating the molecular basis of Canavan disease
    Maria Traka; Fiscal Year: 2013
    H Perez; Fiscal Year: 1991
    ..The complete sequence of DBP and Bb are known, and both isoforms of DBP (Gc1 and Gc2) have been cloned...
  19. Pathophysiology of thiamine-responsive anemia syndrome
    Ellis Neufeld; Fiscal Year: 2006
    Patrick McNamara; Fiscal Year: 2004
    ..The identification of the mammary epithelial carrier proteins, their genes, and factors that control their regulation are the ultimate, long-term goals of this research program. ..
  21. Substrate requirements of the bile acid transporter
    JAMES POLLI; Fiscal Year: 2009
    ..This systematic and progressive approach will serve as a prototypical method to elucidate the substrate requirements of other solute carrier (SLC) proteins. ..
  22. Mouse Models of Vitamin Transport Defects
    Judith Fleming; Fiscal Year: 2004
    ..abstract_text> ..
  23. Mammalian metal transporters & Salmonella infection
    BOBBY CHERAYIL; Fiscal Year: 2006
    ..These studies will identify new aspects of the Salmonella-host cell interaction, shed light on the role of mammalian metal transporters in Salmonella infection, and suggest novel approaches to treating salmonellosis. ..
  24. Adrenergic Receptor Linked ROS-GC Neurosensory Signaling
    Rameshwar Sharma; Fiscal Year: 2006
    ..ROS-GC exists in three forms: ROS-GC1, ROS-GC2 and ONE-GC...
    Rameshwar Sharma; Fiscal Year: 2002
    ..CRM2 to S100beta and CRM3 to GCAP2. A second form of ROS-GC, ROS-GC2, has been cloned from the retina, and is also Ca/2+ modulated, suggesting its linkage to phototransduction...
  26. Function and structure of pendrin in thyroid cells
    Peter Kopp; Fiscal Year: 2007
    ..These studies will provide fundamental insights into the (patho)physiology of this novel anion transporter that has important functions in the thyroid, the kidney and the inner ear. ..
  27. Mechanisms of Regulation Of NHE-1
    John Raymond; Fiscal Year: 2007
    ..This proposal could also lay the foundation for future structural experiments utilizing NMR and/or crystallography methods. ..
  28. Molecular Basis of Glutamate Transport
    Christof Grewer; Fiscal Year: 2008
    ..Furthermore, malfunctioning glutamate transporters have been implicated in several diseases of the nervous system. ..
    Matthias Hediger; Fiscal Year: 2004
  30. Investigating the nature of prestin-associated proteins
    Jing Zheng; Fiscal Year: 2007
    ..This knowledge may make it possible to manipulate OHC function for therapeutic purposes. ..
    Michael Camilleri; Fiscal Year: 2007
    ..abstract_text> ..
  32. Targeted mouse models for studying skeletal dysplasia
    Michael Briggs; Fiscal Year: 2005
    ..abstract_text> ..
  33. Development & Maturation of Kidney Xenobiotic Transport
    Sanjay Nigam; Fiscal Year: 2005
    ..Together, these studies should provide key insights not only into the development and maturation of renal drug handling capacity but also into mechanisms of proximal tubulogenesis. ..
  34. Environmental Toxicology Using Transgenic Models
    Glen Andrews; Fiscal Year: 2005
    ..Functions of MTF-l during development will be examined in Zebrafish using morpholino antisense oligonucleotides, whole mount in situ hybridization and morphometric analyses of developing embryos. ..
  35. Environmental Hormones: Effects on Thyroid Function
    Curtis Klaassen; Fiscal Year: 2005
    ..abstract_text> ..
    Sanjay Nigam; Fiscal Year: 2003
    ..abstract_text> ..
  37. Cellular Efflux and Metabolism of Protease Inhibitors
    Ashim Mitra; Fiscal Year: 2004
    ..The brain parenchymal and alveolar lining - two sanctuary sites that are 'protected' from optimal antiretroviral drug access. 4) to study the effect of protein binding on the influx and efflux of model compounds, and anti-HIV drugs. ..
  38. Salvage Transporter as a Target for Drug Discovery
    Joanne Wang; Fiscal Year: 2004
    ..Furthermore, it will make molecular and chemical tools available for further developing these transporters as a target for anticancer drug discovery. ..
  39. Anti-Tumor Autoimmunity by lymphopenia T cell Expansion
    Roberto Baccala; Fiscal Year: 2008
    ..The results will define the role of homeostatic T cell proliferation in tumor autoimmunity, and provide new approaches to the treatment of cancer. [unreadable] [unreadable]..
  40. Oxalate & Crystal Renal Phenotypes: A Microarray Study
    Susan Ruth Marengo; Fiscal Year: 2003
    ..The long term objective of this work is to establish the mechanism of oxalate induced damage in the kidney. ..
    Curtis Klaassen; Fiscal Year: 2003
    ..abstract_text> ..
  42. Conference--The Biology and Chemistry of Vision
    Wolfgang Baehr; Fiscal Year: 2003
    ..Proposed sessions include topics on the biology and physiology of photoreceptors, human genetics and retinal disease, as well as gene therapy of recessive and dominant dystrophies. ..
    Xue Liu; Fiscal Year: 2002
    ..This knowledge is an essential prerequisite to the development and provision of molecular diagnostic services for families with NSHL, as well as the further delineation of the functional genomics of the cochlea. ..
    Glen Andrews; Fiscal Year: 2002
    ..A testable hypothesis is that misexpression of MT will alter metal homeostasis during pregnancy causing increased sensitivity to dietary Zn deficiency and reduced sensitivity to Cd toxicity. ..
    MAUREEN HAHN; Fiscal Year: 2002
    ..abstract_text> ..
  46. Factor Mediating Ureteric Migration and Morphogenesis
    Sanjay K Nigam; Fiscal Year: 2010
    ..The experiments are based on considerable preliminary data and follow directly from work completed during the previous funding period. We have proven expertise in the techniques necessary to complete the project. ..
  47. Cannabinoid Mechanisms in Human Gastrointestinal Motor and Sensory Functions
    MICHAEL L CAMILLERI; Fiscal Year: 2010
    ..These actions may be relevant to develop new treatments for IBS. The studies will also provide further understanding of the potential of medications like medical marijuana on stomach function that may be relevant to appetite control. ..
  48. Genetic approach for transneuronal NA circuitry mapping
    Kwang Soo Kim; Fiscal Year: 2008
    ..Therefore, these approaches will serve as invaluable tools to elucidate the function and regulation of NA circuitry in the normal and diseased brain. [unreadable] [unreadable]..
    Michael Camilleri; Fiscal Year: 2008
    ..Significance: This project will characterize pharmacogenetic mechanisms determining the response to clonidine through studies of candidate genes that control alpha2-adrenoreceptor function and norepinephrine transport in IBS. ..
    Jon Watchko; Fiscal Year: 2007
    ..abstract_text> ..
  51. Continuous Treatment with Oxalate Changes Renal Physiology and Morphology (DK0750
    Susan Ruth Marengo; Fiscal Year: 2008
    ..The objective is to identify those effects which promote these conditions. Future work will determine the mechanism of these effects with the goal of developing an effective preventative therapy. [unreadable] [unreadable] [unreadable]..
  52. Identification of Genes Regulating Ureter Morphogenesis
    Sanjay Nigam; Fiscal Year: 2007
    ..This proposal is specifically responsive to Program Announcement PAR-02- 143). ..
  53. Biomarker Genes in Mood Disorder: Lymphocyte and Brain
    MARQUIS VAWTER; Fiscal Year: 2006
    ..The potential use of biomarkers in lymphocytes will provide clinical researchers a tool to better address questions concerning diagnostic subgroups and treatment responders and non-responders. ..
  54. Molecular Biology of Mammalian Zinc Homeostasis
    Glen Andrews; Fiscal Year: 2006
    ..The co-I., Dr. Eide is an expert and leader in the field of ZIP transport function, and our collaborator, Dr. Palmiter is an expert in gene targeting in mice. ..
  55. Coordinate Regulation of Uptake and Efflux Transporters
    Curtis D Klaassen; Fiscal Year: 2010
  56. Ocular Disposition of Antimicrobial Agents
    Ashim K Mitra; Fiscal Year: 2010
    ..abstract_text> ..
  57. Transscleral Transport & Polymeric Delivery of Antibody & Steroids for Macular Ed
    Ashim K Mitra; Fiscal Year: 2010
    ..This novel delivery system may provide added stability to steroids and bevacizumab and six-month sustained delivery from a single episcleral administration. ..
  58. Combined Computational and Wet Lab Screening for Drugs Tested via OATs
    Sanjay K Nigam; Fiscal Year: 2010
    ..The goal is to identify highly specific substrates for the nasally expressed organic anion transporters, Oat1 and Oat6, thereby allowing for efficient intranasal delivery and transport of drugs to the CNS. ..
  59. Molecular basis of glutamate receptor field formation
    David Featherstone; Fiscal Year: 2006
    ..drug targets that could be important for understanding and treating neurological conditions such as epilepsy, schizophrenia, damage due to stroke, learning disorders, spinal cord regeneration, or drug addiction [unreadable] [unreadable]..
  60. Regulation of Hepatic Excretion of Xenobiotics by Mrps
    Curtis D Klaassen; Fiscal Year: 2010
    ..Elucidation of the role of Nrf2 in the regulation of the efflux transport process will have significant ramifications in toxicology, xenobiotics disposition, drug-drug interaction, and cancer chemoprevention. ..
  61. SNPs in Handling of Small Pox Antivirals and Other Drugs
    Sanjay Nigam; Fiscal Year: 2009
    ..Ultimately, this work should provide the basis of a useful strategy to diminish renal failure in humans treated with nephrotoxic drugs. ..
    Sanjay Nigam; Fiscal Year: 2001
    ..He will then determine total vs. radiolabeled tight junction protein in immunoprecipitates from macromolecular complex, the extractable fraction, and in the cell-surface pool. ..