SLC25A18

Summary

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

Research Grants

  1. Peter W Swaan; Fiscal Year: 2016
  2. Venkata Saroja Voruganti; Fiscal Year: 2015
  3. Wolfgang Baehr; Fiscal Year: 2016
  4. PHARMACOGENETICS OF MEMBRANE TRANSPORTERS
    Kathleen Giacomini; Fiscal Year: 2009
  5. MICHAEL L CAMILLERI; Fiscal Year: 2015
  6. Mark D Fleming; Fiscal Year: 2015
  7. Julia F Charles; Fiscal Year: 2015
  8. Mechanisms of Regulation Of NHE-1
    John R Raymond; Fiscal Year: 2012
  9. Role of the Solute Carrier Gene Family in Hypertension
    Alanna C Morrison; Fiscal Year: 2012
  10. HARVEY MICHAEL FRIEDMAN; Fiscal Year: 2014

Detail Information

Publications293 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. doi 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 . 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. 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...
  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. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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
    ....
  15. 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...
  16. 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
    ....
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  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 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...
  23. 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...
  24. 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...
  25. 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)...
  26. 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...
  27. 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
    ....
  28. 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 ..
  29. 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...
  30. 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...
  31. 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+ ..
  32. 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...
  33. 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)...
  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 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...
  36. 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...
  37. 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...
  38. 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...
  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. 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...
  41. 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
    ....
  42. 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...
  43. 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...
  44. 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
    ....
  45. ncbi Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Hum Mutat 18:233-42. 2001
    ..The increasingly wide diversity of SLC26A3 mutations suggests that mutations in the SLC26A3 gene may not be rare events...
  46. pmc Expression of solute carrier 7A4 (SLC7A4) in the plasma membrane is not sufficient to mediate amino acid transport activity
    Sabine Wolf
    Department of Pharmacology, Johannes Gutenberg University, Obere Zahlbacher Strasse 67, 55101 Mainz, Germany
    Biochem J 364:767-75. 2002
    ..laevis oocytes or human cells. Therefore, SLC7A4 is either not an amino acid transporter or it needs additional (protein) factor(s) to be functional...
  47. ncbi A current review of fatty acid transport proteins (SLC27)
    Andreas Stahl
    Research Institute, Palo Alto Medical Foundation, Ames Bldg, 795 El Camino Real, Palo Alto, CA 94301, USA
    Pflugers Arch 447:722-7. 2004
    ..This review will focus on a brief discussion of FATP expression patterns, regulation, structure, and mechanism of transport...
  48. ncbi Polymorphism of the solute carrier family 12 (sodium/chloride transporters) member 3, SLC12A3, gene at exon 23 (+78G/A: Arg913Gln) is associated with elevation of urinary albumin excretion in Japanese patients with type 2 diabetes: a 10-year longitudinal
    K Nishiyama
    Department of Medicine, Metabolism and Endocrinology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo, 113 8421, Japan
    Diabetologia 48:1335-8. 2005
    ..The aim of this study was to confirm the effect of this polymorphism on the elevation of urinary albumin excretion in type 2 diabetic patients...
  49. 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...
  50. ncbi Application of laser capture microdissection and differential display technique for screening of pathogenic genes involved in endometrial carcinoma
    L Wen-Xin
    Department of Gynecological Tumor, Affiliated Cancer Hospital, Tianjin Medical University, Tianjin, China
    Int J Gynecol Cancer 17:1224-30. 2007
    ..It has been first found that CDK7, PPP1R12A, CREG, and SLC39A10 are correlative with EC from gene level. CDK7 is strongly associated with EC and can be used as potential molecular marker of EC for further studies...
  51. ncbi The genetics of cream coat color in dogs
    Sheila M Schmutz
    Department of Animal and Poultry Science, University of Saskatchewan, Saskatoon, Canada S7N 5A8
    J Hered 98:544-8. 2007
    ..A microsatellite was detected in a published BAC sequence (GenBank no. AAEX01017083) in intron 2 and was used to map SLC45A2 to CFA4...
  52. doi Differential expression of influx and efflux transport proteins in human antigen presenting cells
    Claudia Skazik
    Department of Dermatology, University Hospital RWTH Aachen, Aachen, Germany
    Exp Dermatol 17:739-47. 2008
    ....
  53. pmc Profiling SLCO and SLC22 genes in the NCI-60 cancer cell lines to identify drug uptake transporters
    Mitsunori Okabe
    Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, USA
    Mol Cancer Ther 7:3081-91. 2008
    ..Our results indicate that the gene expression database can be used to identify SLCO and SLC22 family members that confer sensitivity to cancer cells...
  54. ncbi Monocarboxylate transporters: past, present, and future
    Natalya Merezhinskaya
    Division of Environmental Toxicology, Environmental and Infectious Disease Sciences Department, Armed Forces Institute of Pathology, Washington, DC 20306 6000, USA
    Histol Histopathol 24:243-64. 2009
    ..Along the way we posit questions or suggestions for future research...
  55. 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
    ....
  56. 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
    ....
  57. doi The association of the dopamine transporter gene and the dopamine receptor 2 gene with delirium, a meta-analysis
    Barbara C van Munster
    Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 153:648-55. 2010
    ..06) and 0.8 (95% C.I. 0.5-1.5, P = 0.51) for delirium in patients with and without cognitive impairment, respectively. In independent cohorts, a variation in the SLC6A3 gene and possibly the DRD2 gene were found to protect for delirium...
  58. doi The role of the placenta in fetal exposure to xenobiotics: importance of membrane transporters and human models for transfer studies
    Caroline Prouillac
    Métabolisme et Toxicologie Comparée des Xénobiotiques, VetAgroSup, Campus Vétérinaire de Lyon, 1 avenue Bourgelat, Marcy l Etoile, France
    Drug Metab Dispos 38:1623-35. 2010
    ..The use of these models for toxicological studies, in particular xenobiotic transfer, is described, and the advantages and limits of each model are summarized...
  59. ncbi Isolation and molecular characterization of the porcine SLC6A14 gene excludes it as a candidate gene for fat deposition and growth
    G L Yang
    Key Laboratory for Animal Biotechnology of Jiangxi Province and the Ministry of Agriculture of China, Jiangxi Agricultural University, Nanchang 330045, China
    J Appl Genet 51:299-308. 2010
    ..These results indicate that SLC6A14 is not a positional candidate gene for the QTL affecting fatness and growth traits in pigs...
  60. pmc A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations
    Kenichiro Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Aichi, Japan
    BMC Med Genet 11:171. 2010
    ..Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-responsive basal ganglia disease and Wernicke's-like encephalopathy. Biotin and/or thiamin are effective therapies for both diseases...
  61. ncbi A novel porcine gene--SLC9A3R2, differentially expressed in the longissimus muscle tissues from Meishan and Large White pigs
    Z Jiugang
    Chongqing Key Laboratory of Pig Industry Sciences, Chongqing Academy of Animal Sciences, Rongchang, China
    Folia Biol (Praha) 57:20-5. 2011
    ..The tissue expression analysis indicated that the swine SLC9A3R2 gene is differentially expressed in different tissues. Our experiment is the first to establish the primary foundation for further research on the swine SLC9A3R2 gene...
  62. doi Unusual regulation of a STAT protein by an SLC6 family transporter in C. elegans epidermal innate immunity
    Katja Dierking
    Centre d immunologie de Marseille Luminy, Universite de la Mediterranee, Case 906, 13288 Marseille, France
    Cell Host Microbe 9:425-35. 2011
    ..These findings reveal an unorthodox mode of regulation for a STAT factor and highlight the molecular plasticity of innate immune signaling...
  63. pmc Engineered pendrin protein, an anion transporter and molecular motor
    Jie Tang
    Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, Nebraska 68178, USA
    J Biol Chem 286:31014-21. 2011
    ..Thus, the engineered pendrin was capable of both transporting anions and generating force...
  64. pmc Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated by extracellular Cl-
    Ehud Ohana
    Epithelial Signaling and Transport Section, Molecular Physiology and Therapeutics Branch, NIDCR, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 287:5122-32. 2012
    ....
  65. pmc Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy
    Zhenlin Zhang
    Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University, China
    Am J Hum Genet 90:125-32. 2012
    ..Moreover, this study might also help to explain the cause of secondary hypertrophic osteoarthropathy...
  66. pmc Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis
    Lei Sun
    Biostatistics Division, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada
    Nat Genet 44:562-9. 2012
    ..0002; testing of 155 apical membrane genes jointly and in replication, P = 0.022). These findings suggest that modulating activities of apical membrane constituents could complement current therapeutic paradigms for cystic fibrosis...
  67. pmc Expression of the sodium/calcium/potassium exchanger, NCKX4, in ameloblasts
    Ping Hu
    Center for Craniofacial Molecular Biology, Herman Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033, USA
    Cells Tissues Organs 196:501-9. 2012
    ..These data suggest that NCKX4 might be an important regulator of Ca(2+) transport during amelogenesis...
  68. doi The SLC4A7 variant rs4973768 is associated with breast cancer risk: evidence from a case-control study and a meta-analysis
    Wei Chen
    Ministry of Education Key Lab of Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China
    Breast Cancer Res Treat 136:847-57. 2012
    ..In summary, our results showed that the SLC4A7 variant, rs4973768, is associated with risk of BC although the underlying biologic mechanism warrants further studies...
  69. ncbi Gitelman syndrome as a cause of psychomotor retardation in a toddler
    Sylva Skalova
    Department of Pediatrics, Faculty of Medicine in Hradec Kralove, Charles University, Prague, Czech Republic
    Arab J Nephrol Transplant 6:37-9. 2013
    ..Manifestations of GS are rarely apparent before the age of five, and the syndrome is usually diagnosed during adolescence or adulthood. Here we describe a case of GS presenting in infancy with hypokalemia and psychomotor retardation...
  70. ncbi Expression and function of organic cation and anion transporters (SLC22 family) in the CNS
    Christine A Farthing
    Virginia Commonwealth University, School of Pharmacy, Department of Pharmaceutics, 401 N 12th Street, Richmond, VA, 23298, USA
    Curr Pharm Des 20:1472-86. 2014
    ..In vitro and in vivo evidence of SLC22 localization and transport characteristics within the CNS compartment are summarized...
  71. ncbi SLC1 glutamate transporters and diseases: psychiatric diseases and pathological pain
    Takayuki Nakagawa
    Department of Molecular Pharmacology, Graduate School of Pharmaceutical Sciences, Kyoto University, Kyoto 606 8501, Japan
    Curr Mol Pharmacol 6:66-73. 2013
    ....
  72. pmc Genome-wide identification of molecular pathways and biomarkers in response to arsenic exposure in zebrafish liver
    Hongyan Xu
    Department of Biological Sciences, National University of Singapore, Singapore, Singapore
    PLoS ONE 8:e68737. 2013
    ..Thus, our work represents the first comprehensive investigation of molecular mechanism of asenic toxicity and genome-wide search for potential biomarkers for arsenic exposure. ..
  73. ncbi Serum 25(OH)D and vitamin D status in relation to VDR, GC and CYP2R1 variants in Chinese
    Li Hua Li
    Centre for Epidemiological Studies and Clinical Trials, The Shanghai Institute of Hypertension, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
    Endocr J 61:133-41. 2014
    ..17). Haplotype-based analyses of GC-rs7041 and rs4588 showed that the haplotype Gc2-2 (rs7041 AA and rs4588 TT) had the lowest levels of 25(OH)D compared with other haplotypes that contained at least ..
  74. doi The solute carrier family 1 (glial high affinity glutamate transporter), member 2 gene, SLC1A2, rs3794087 variant and assessment risk for restless legs syndrome
    Félix Javier Jimenez-Jimenez
    Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Madrid, Spain Department of Medicine Neurology, Hospital Principe de Asturias, Universidad de Alcala, Alcala de Henares, Madrid, Spain Electronic address
    Sleep Med 15:266-8. 2014
    ....
  75. pmc The human gene SLC25A29, of solute carrier family 25, encodes a mitochondrial transporter of basic amino acids
    Vito Porcelli
    From the Department of Biosciences, Biotechnologies and Biopharmaceutics, Laboratory of Biochemistry and Molecular Biology and
    J Biol Chem 289:13374-84. 2014
    ..The main physiological role of SLC25A29 is to import basic amino acids into mitochondria for mitochondrial protein synthesis and amino acid degradation. ..
  76. doi Temporal expression of transporters and receptors in a rat primary co-culture blood-brain barrier model
    Houfu Liu
    Department of Drug Metabolism and Pharmacokinetics, GlaxoSmithKline R and D China, Shanghai, People s Republic of China
    Xenobiotica 44:941-51. 2014
    ..5. We have provided appropriate methodologies, as well as detailed and quantitative characterization data to facilitate improved understanding and rational use of this in vitro rat BBB model...
  77. pmc Cell-Type Specific Determinants of NRAMP1 Expression in Professional Phagocytes
    Mathieu F M Cellier
    INRS Institut Armand Frappier, 531, Bd des prairies, Laval, QC H7V 1B7, Canada
    Biology (Basel) 2:233-83. 2013
    ..Characterizing the corresponding cis/trans determinants functionally will establish the mechanisms involved and possibly reveal genetic variation that impacts susceptibility to infectious or immune diseases. ..
  78. pmc Positron emission tomography probe demonstrates a striking concentration of ribose salvage in the liver
    Peter M Clark
    Departments of Microbiology, Immunology, and Molecular Genetics
    Proc Natl Acad Sci U S A 111:E2866-74. 2014
    ..These results describe a tool for studying ribose salvage and suggest that plasma ribose is preferentially metabolized in the liver. ..
  79. doi Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms
    Hiroko Sato
    Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
    J Hum Genet 60:35-40. 2015
    ..Inadequate feeding may increase the bilirubin burden and cause apparent hyperbilirubinemia in neonates, who have a polymorphic change in the genes involved in the transport and/or metabolism of bilirubin. ..
  80. doi A role for solute carrier family 10 member 4, or vesicular aminergic-associated transporter, in structural remodelling and transmitter release at the mouse neuromuscular junction
    Kalicharan Patra
    Department of Neuroscience, Uppsala University, Uppsala, Sweden
    Eur J Neurosci 41:316-27. 2015
    ..Our results suggested that VAAT modulates NMJ transmission efficiency and, as such, may represent a novel target for treatment of disorders affecting motor neurons. ..
  81. pmc Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations
    Vania Bonifaz-Peña
    Computational Genomics Consortium, National Institute of Genomic Medicine, Mexico City, Mexico
    PLoS ONE 9:e112640. 2014
    ..We show how differences in admixture history may have an important impact in the distribution of allele and genotype frequencies at the population level. ..
  82. doi Gene expression in the human endolymphatic sac: the solute carrier molecules in endolymphatic fluid homeostasis
    Martin Nue Møller
    Department of Oto Rhino Laryngology, Head and Neck Surgery, Rigshospitalet, Copenhagen Department of Oral Medicine, Dental School, Panum Institute, University of Copenhagen, Copenhagen Center for Genomic Medicine, University of Copenhagen, Rigshospitalet, Copenhagen and Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
    Otol Neurotol 36:915-22. 2015
    ..The purpose of the present study is to explore, demonstrate, and describe the expression of genes related to the solute carrier (SLC) molecules of ion transporters in the human endolymphatic sac...
  83. pmc The organic anion transporter (OAT) family: a systems biology perspective
    Sanjay K Nigam
    Departments of Pediatrics, Medicine, Cellular and Molecular Medicine, Bioengineering, and Family and Preventative Medicine, University of California, San Diego, La Jolla, California
    Physiol Rev 95:83-123. 2015
    ..The role of various Oat isoforms in systems physiology appears quite complex, and their ramifications are discussed in the context of remote sensing and signaling. ..
  84. doi 5,7-di-N-acetyl-acinetaminic acid: A novel non-2-ulosonic acid found in the capsule of an Acinetobacter baumannii isolate
    Johanna J Kenyon
    School of Molecular Bioscience, The University of Sydney, Sydney, NSW 2006, Australia
    Glycobiology 25:644-54. 2015
    ..KL12 and KL13 are carried by isolates belonging to clinically important clonal groups, GC1, GC2 and ST25. Genes for the synthesis of N-acyl derivatives of legionaminic acid were also found in 10 further A...
  85. doi Protein kinase C affects the internalization and recycling of organic anion transporting polypeptide 1B1
    Mei Hong
    College of Life Science, South China Agricultural University, Guangzhou, China Electronic address
    Biochim Biophys Acta 1848:2022-30. 2015
    ..Taken together, our present study demonstrated that PKC regulates the function of OATP1B1 by affecting internalization and recycling of the transporter protein. ..
  86. pmc Expression, sorting and transport studies for the orphan carrier SLC10A4 in neuronal and non-neuronal cell lines and in Xenopus laevis oocytes
    Stephanie Schmidt
    Institute of Pharmacology and Toxicology, Justus Liebig University of Giessen, Schubertstr 81, 35392, Giessen, Germany
    BMC Neurosci 16:35. 2015
    ..Therefore, in the present study, we performed systematic transport screenings for SLC10A4 and also aimed to identify the vesicular sorting domain of the SLC10A4 protein...
  87. doi Cation dependencies and turnover rates of the human K⁺-dependent Na⁺-Ca²⁺ exchangers NCKX1, NCKX2, NCKX3 and NCKX4
    Ali H Jalloul
    Department of Physiology and Pharmacology, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
    Cell Calcium 59:1-11. 2016
    ..Our results show that there are no significant differences between the NCKX isoforms to explain the variation in the specific expression pattern of these exchangers. ..
  88. pmc Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
    Kym M Boycott
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada Electronic address
    Am J Hum Genet 97:886-93. 2015
    ..Our findings identify a human Mn and Zn transporter deficiency syndrome linked to SLC39A8, providing insight into the roles of Mn and Zn homeostasis in human health and development...
  89. pmc SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation
    Atsushi Intoh
    Department of Stem Cell and Regenerative Biology, The Harvard Stem Cell Institute, Harvard University, Sherman Fairchild Building, 7 Divinity Avenue, Cambridge, MA 02138, USA and
    Hum Mol Genet 25:1814-23. 2016
    ....
  90. pmc Multispecific Organic Cation Transporter 1 (OCT1) from Bos taurus Has High Affinity and Slow Binding Kinetics towards Prostaglandin E2
    Xiao He
    Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA 92093, United States of America
    PLoS ONE 11:e0152969. 2016
    ....
  91. pmc Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis
    Sihoon Lee
    Department of Internal Medicine and Laboratory of Genomics and Translational Medicine, Gachon University School of Medicine, Incheon, Korea
    J Korean Med Sci 31:735-42. 2016
    ..Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PDP and could provide additional clues to the genotype-phenotype relations of PDP. ..
  92. pmc Rifampin Regulation of Drug Transporters Gene Expression and the Association of MicroRNAs in Human Hepatocytes
    Eric A Benson
    Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine Indianapolis, IN, USA
    Front Pharmacol 7:111. 2016
    ..In this study, we determined the effect of rifampin on gene expression of hundreds of membrane transporters along with all clinically relevant drug transporters...
  93. pmc A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder
    Naila Al Mahmuda
    Research Center for Child Mental Development, Kanazawa University, Kanazawa 920 8640, Japan
    Int J Mol Sci 17:. 2016
    ..In conclusion, although our results supported a role of the SLC19A1 gene in the etiology of ASD, it was not a significant risk factor for the ASD samples analyzed in this study. ..
  94. doi Organic Anion Transporter 2: An Enigmatic Human Solute Carrier
    Hong Shen
    Department of Metabolism and Pharmacokinetics, Bristol Myers Squibb Research and Development, Princeton, New Jersey H S, Y L, and Department of Pharmacokinetics, Dynamics, and Metabolism, Pfizer World Wide Research and Development, Groton, Connecticut A D R
    Drug Metab Dispos 45:228-236. 2017
    ..We envision that OAT2 will gain more prominence as its expression, substrate, and inhibitor profile is investigated further and compared with other SLCs...
  95. doi Variable liver fat concentration as a proxy for body fat mobilization postpartum has minor effects on insulin-induced changes in hepatic gene expression related to energy metabolism in dairy cows
    C Weber
    Institute of Nutritional Physiology Oskar Kellner, Leibniz Institute for Farm Animal Biology FBN, Dummerstorf 18196, Germany
    J Dairy Sci . 2016
    ..Insulin status is important for regulation of nutrient partitioning, but different LFC pp had very little influence on changes in hepatic gene expression following administration of insulin...
  96. doi Large-scale identification of differentially expressed genes during pupa development reveals solute carrier gene is essential for pupal pigmentation in Chilo suppressalis
    Yang Sun
    Department of Entomology, Nanjing Agricultural University, Nanjing, 210095, China
    J Insect Physiol . 2016
    ..The RNAi-treated individuals had white and soft pupa, suggesting that this gene has an essential role in pupal development...
  97. ncbi Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis
    T Ikeda
    SNP Research Center, RIKEN The Institute of Physical and Chemical Research, University of Tokyo, Japan
    J Hum Genet 46:538-43. 2001
    ..43) and is thought to confer a minor susceptibility to knee OA within the Japanese population. Haplotype analysis showed no evidence of association with the two genes, however, excluding them as major susceptibility loci for knee OA...
  98. pmc Soluble fusion proteins between single transmembrane photoreceptor guanylyl cyclases and their activators
    Izabela Sokal
    Department of Ophthalmology, University of Washington, Seattle, Washington 98195 6485, USA
    Biochemistry 41:251-7. 2002
    Among single-spanning transmembrane receptors (sTMRs), two guanylyl cyclase receptors, GC1 and GC2, are critically important during phototransduction in vertebrate retinal photoreceptor cells...
  99. ncbi Analysis of chromosome 5q31-32 and psoriasis: confirmation of a susceptibility locus but no association with SNPs within SLC22A4 and SLC22A5
    Camilla Friberg
    Department of Clinical Genetics, Sahlgrenska University Hospital Ostra, Smörslottsgatan 1, Goteborg University, Göteborg SE 41685, Sweden
    J Invest Dermatol 126:998-1002. 2006
    ..6 for marker D5S2090, only 2 Mb from D5S436. This suggests a psoriasis susceptibility locus on chromosome 5q32 that is involved in the arthritic phenotype of the disease...
  100. ncbi Organic anion transporting polypeptide 2B1 and breast cancer resistance protein interact in the transepithelial transport of steroid sulfates in human placenta
    Markus Grube
    Department of Pharmacology, Friedrich Loefflerstrasse 23d, 17487 Greifswald, Germany
    Drug Metab Dispos 35:30-5. 2007
    ..Taken together, these data show the potential for a functional interaction of OATP2B1 and BCRP in transepithelial transport of steroid sulfates in human placenta...
  101. 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...

Research Grants63

  1. Peter W Swaan; Fiscal Year: 2016
    ....
  2. Venkata Saroja Voruganti; Fiscal Year: 2015
    ....
  3. Wolfgang Baehr; Fiscal Year: 2016
    ..In GC1/GC2 double knockout rods, PDE6 failed to transport whereas transducin (T) and opsin kinase (GRK1) were unaffected...
  4. PHARMACOGENETICS OF MEMBRANE TRANSPORTERS
    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. MICHAEL L CAMILLERI; Fiscal Year: 2015
    ....
  6. Mark D Fleming; Fiscal Year: 2015
    ..In both cases, we expect to learn more about mitochondrial iron metabolism, the SAs and approaches to therapy. ..
  7. Julia F Charles; Fiscal Year: 2015
    ....
  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. HARVEY MICHAEL FRIEDMAN; Fiscal Year: 2014
    ..a HSV-2 replication competent, attenuated live virus (gE2-del) and the other a trivalent subunit antigen vaccine (gC2/gD2/gE2)...
  11. Thomas E Carey; Fiscal Year: 2014
    ..In Aim 3 we will study inner ear development, hearing, and balance in transgenic mice with defective CTL2. ..
  12. 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. ..
  13. Molecular Genetics of Cadmium Toxicity
    Daniel W Nebert; Fiscal Year: 2010
    ....
  14. Seok Yong Lee; Fiscal Year: 2016
    ....
  15. Cationic Amino Acid Transport in Mosquitoes
    Immo Alex Hansen; Fiscal Year: 2012
    ....
  16. David Z Z He; Fiscal Year: 2016
    ..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. Maria Traka; Fiscal Year: 2014
    ....
  18. HOST DEFENSES IN SYSTEMIC LUPUS ERYTHEMATOSUS
    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
    ....
  20. TRANSPORT GENE EXPRESSION AND DRUG ACCUMULATION IN MILK
    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...
  25. GUANYLATE CYCLASE TRANSDUCTION SYSTEMS IN RETINA
    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. 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. ..
  29. 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. ..
  30. 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. ..
  31. KIDNEY ISCHEMIA AND TIGHT JUNCTION RECOVERY
    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. ..
  32. 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. ..
  33. DEVELOPMENT OF THE URINARY COLLECTING SYSTEM
    Sanjay Nigam; Fiscal Year: 2003
    ..abstract_text> ..
  34. Identification of Genes Regulating Ureter Morphogenesis
    Sanjay Nigam; Fiscal Year: 2007
    ..This proposal is specifically responsive to Program Announcement PAR-02- 143). ..
  35. MECHANISMS OF INTESTINAL IRON ABSORPTION
    Matthias Hediger; Fiscal Year: 2004
    ....
  36. Molecular Basis of Glutamate Transport
    Christof Grewer; Fiscal Year: 2008
    ..Furthermore, malfunctioning glutamate transporters have been implicated in several diseases of the nervous system. ..
  37. 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. ..
  38. Effects of MBSR in Early Stage Breast Cancer Recovery
    Cecile Lengacher; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  39. HEPATOBILIARY DISPOSITION IN TOXICOLOGY
    Curtis Klaassen; Fiscal Year: 2003
    ..abstract_text> ..
  40. 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. ..
  41. Environmental Hormones: Effects on Thyroid Function
    Curtis Klaassen; Fiscal Year: 2005
    ..abstract_text> ..
  42. 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. ..
  43. 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. ..
  44. 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. ..
  45. 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. ..
  46. 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. ..
  47. SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESS
    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. ..
  48. METALLOTHIONEIN IN REPRODUCTION AND DEVELOPMENT
    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. ..
  49. GENETIC POLYMORPHISMS HUMAN NOREPINEPHRINE TRANSPORTER
    MAUREEN HAHN; Fiscal Year: 2002
    ..abstract_text> ..
  50. Targeted mouse models for studying skeletal dysplasia
    Michael Briggs; Fiscal Year: 2005
    ..abstract_text> ..
  51. 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]..
  52. 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]..
  53. 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. ..
  54. 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. ..
  55. 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. ..
  56. NEONATAL BILIRUBIN NEUROTOXICITY AND P-GLYCOPROTEIN
    Jon Watchko; Fiscal Year: 2007
    ..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. Ocular Disposition of Antimicrobial Agents
    Ashim K Mitra; Fiscal Year: 2010
    ..abstract_text> ..
  59. Coordinate Regulation of Uptake and Efflux Transporters
    Curtis D Klaassen; Fiscal Year: 2010
    ....
  60. 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]..
  61. ALPHA-2 ADRENERGIC CONTROL OF COLONIC FUNCTION IN IBS
    Michael Camilleri; Fiscal Year: 2007
    ..abstract_text> ..
  62. ALPHA 2 ADRENERGIC CONTROL IN IRRITABLE BOWEL SYNDROME
    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. ..
  63. 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]..