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Tytuł:
Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.
Autorzy:
Locher M; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Jukic E; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Vogi V; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Keller MA; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Kröll T; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Schwendinger S; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Oberhuber K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Verdorfer I; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Mühlegger BE; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Witsch-Baumgartner M; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Nachbaur D; Internal Medicine V (Hematology & Oncology), Medical University of Innsbruck, Innsbruck, Austria.
Willenbacher W; Internal Medicine V (Hematology & Oncology), Medical University of Innsbruck, Innsbruck, Austria.; syndena GmbH, connect to cure, Innsbruck, Austria.
Gunsilius E; Internal Medicine V (Hematology & Oncology), Medical University of Innsbruck, Innsbruck, Austria.
Wolf D; Internal Medicine V (Hematology & Oncology), Medical University of Innsbruck, Innsbruck, Austria.; Medical Clinic 3, Oncology, Hematology, Immunoncology and Rheumatology, University Hospital Bonn, Bonn, Germany.
Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Steiner N; Internal Medicine V (Hematology & Oncology), Medical University of Innsbruck, Innsbruck, Austria.
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Źródło:
European journal of haematology [Eur J Haematol] 2023 Mar; Vol. 110 (3), pp. 296-304. Date of Electronic Publication: 2022 Dec 04.
Typ publikacji:
Journal Article
MeSH Terms:
Adenine Phosphoribosyltransferase*/genetics
Multiple Myeloma*/diagnosis
Multiple Myeloma*/genetics
Multiple Myeloma*/pathology
Tetraploidy*
Humans ; Chromosome Aberrations ; In Situ Hybridization, Fluorescence ; Neoplasm Recurrence, Local ; Prognosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Selection and validation of reliable reference genes for quantitative real-time PCR in Barnyard millet (Echinochloa spp.) under varied abiotic stress conditions.
Autorzy:
Renganathan VG; Department of Biotechnology, Centre of Excellence for Innovations, Agricultural College & Research Institute, Tamil Nadu Agricultural University, Madurai, India.
Renuka R; Department of Biotechnology, Centre of Excellence for Innovations, Agricultural College & Research Institute, Tamil Nadu Agricultural University, Madurai, India. .
Vanniarajan C; Anbil Dharmalingam Agricultural College & Research Institute, Tamil Nadu Agricultural University, Tiruchirappalli, India.
Raveendran M; Department of Plant Biotechnology, Centre for Plant Molecular Biology and Biotechnology, Tamil Nadu Agricultural University, Coimbatore, India.
Elangovan A; Department of Plant Biotechnology, Centre for Plant Molecular Biology and Biotechnology, Tamil Nadu Agricultural University, Coimbatore, India.
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Źródło:
Scientific reports [Sci Rep] 2023 Sep 20; Vol. 13 (1), pp. 15573. Date of Electronic Publication: 2023 Sep 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Echinochloa*
Real-Time Polymerase Chain Reaction ; Peptide Elongation Factor 1/genetics ; Superoxide Dismutase-1 ; Ubiquitin-Conjugating Enzymes ; Adenine Phosphoribosyltransferase ; Animal Feed
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characterization of adenine phosphoribosyltransferase (APRT) activity in Trypanosoma brucei brucei: Only one of the two isoforms is kinetically active.
Autorzy:
Glockzin K; Department of Biochemistry and Biophysics, Texas A&M University, College Station, Texas, United States of America.
Meek TD; Department of Biochemistry and Biophysics, Texas A&M University, College Station, Texas, United States of America.
Katzfuss A; Department of Biochemistry and Biophysics, Texas A&M University, College Station, Texas, United States of America.
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Źródło:
PLoS neglected tropical diseases [PLoS Negl Trop Dis] 2022 Feb 01; Vol. 16 (2), pp. e0009926. Date of Electronic Publication: 2022 Feb 01 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Adenine Phosphoribosyltransferase/*genetics
Trypanosoma brucei brucei/*enzymology
Trypanosoma brucei brucei/*genetics
Adenine Phosphoribosyltransferase/metabolism ; Escherichia coli ; Protein Isoforms ; Protozoan Proteins/metabolism ; Purines/metabolism ; Saccharomycetales ; Trypanosoma brucei brucei/metabolism
SCR Organism:
Komagataella pastoris
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Crystal structures of APRT from Francisella tularensis - an N-H···N hydrogen bond imparts adenine specificity in adenine phosporibosyltransferases.
Autorzy:
Pavithra GC; Division of Biological Sciences, Poornaprajna Institute of Scientific Research, Bangalore, India.; Manipal Academy of Higher Education, Karnataka, India.
Ramagopal UA; Division of Biological Sciences, Poornaprajna Institute of Scientific Research, Bangalore, India.
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Źródło:
The FEBS journal [FEBS J] 2018 Jun; Vol. 285 (12), pp. 2306-2318. Date of Electronic Publication: 2018 May 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adenine/*chemistry
Adenine Phosphoribosyltransferase/*chemistry
Adenosine Monophosphate/*chemistry
Apoproteins/*chemistry
Bacterial Proteins/*chemistry
Francisella tularensis/*enzymology
Adenine/metabolism ; Adenine Phosphoribosyltransferase/genetics ; Adenine Phosphoribosyltransferase/metabolism ; Adenosine Monophosphate/metabolism ; Amino Acid Sequence ; Apoproteins/genetics ; Apoproteins/metabolism ; Bacterial Proteins/genetics ; Bacterial Proteins/metabolism ; Binding Sites ; Cloning, Molecular ; Crystallography, X-Ray ; Escherichia coli/genetics ; Escherichia coli/metabolism ; Francisella tularensis/chemistry ; Gene Expression ; Genetic Vectors/chemistry ; Genetic Vectors/metabolism ; Hydrogen Bonding ; Kinetics ; Mutation ; Protein Binding ; Protein Conformation, alpha-Helical ; Protein Conformation, beta-Strand ; Protein Interaction Domains and Motifs ; Recombinant Proteins/chemistry ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Sequence Alignment ; Sequence Homology, Amino Acid ; Substrate Specificity ; Thermodynamics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Long-term renal outcomes of APRT deficiency presenting in childhood.
Autorzy:
Runolfsdottir HL; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Hringbraut 101, Reykjavik, Iceland.
Palsson R; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. .; Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Hringbraut 101, Reykjavik, Iceland. .
Agustsdottir IM; Children's Medical Center, Landspitali-The National University Hospital of Iceland, Hringbraut 101, Reykjavik, Iceland.
Indridason OS; Internal Medicine Services, Landspitali-The National University Hospital of Iceland, Hringbraut 101, Reykjavik, Iceland.
Edvardsson VO; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. .; Children's Medical Center, Landspitali-The National University Hospital of Iceland, Hringbraut 101, Reykjavik, Iceland. .
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Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2019 Mar; Vol. 34 (3), pp. 435-442. Date of Electronic Publication: 2018 Nov 15.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Acute Kidney Injury/*epidemiology
Adenine Phosphoribosyltransferase/*deficiency
Allopurinol/*therapeutic use
Kidney Calculi/*epidemiology
Metabolism, Inborn Errors/*complications
Renal Insufficiency, Chronic/*epidemiology
Urolithiasis/*complications
Acute Kidney Injury/etiology ; Acute Kidney Injury/physiopathology ; Adenine/analogs & derivatives ; Adenine/chemistry ; Adenine/metabolism ; Adenine Phosphoribosyltransferase/genetics ; Adenine Phosphoribosyltransferase/metabolism ; Adolescent ; Adult ; Child ; Child, Preschool ; Disease Progression ; Female ; Follow-Up Studies ; Glomerular Filtration Rate/physiology ; Humans ; Infant ; Kidney/physiopathology ; Kidney Calculi/chemistry ; Kidney Calculi/diagnosis ; Kidney Calculi/etiology ; Male ; Metabolism, Inborn Errors/drug therapy ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/metabolism ; Recurrence ; Registries/statistics & numerical data ; Renal Insufficiency, Chronic/etiology ; Renal Insufficiency, Chronic/physiopathology ; Urolithiasis/drug therapy ; Urolithiasis/genetics ; Urolithiasis/metabolism ; Xanthine Dehydrogenase/antagonists & inhibitors ; Xanthine Dehydrogenase/metabolism ; Young Adult
SCR Disease Name:
Adenine phosphoribosyltransferase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Establishment of a Genome Editing Tool Using CRISPR-Cas9 in Chlorella vulgaris UTEX395.
Autorzy:
Kim J; Department of Life Science, Research Institute for Natural Sciences, Hanyang University, Seoul 04763, Korea.
Chang KS; Department of Life Science, Research Institute for Natural Sciences, Hanyang University, Seoul 04763, Korea.
Lee S; Department of Life Science, Research Institute for Natural Sciences, Hanyang University, Seoul 04763, Korea.
Jin E; Department of Life Science, Research Institute for Natural Sciences, Hanyang University, Seoul 04763, Korea.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jan 06; Vol. 22 (2). Date of Electronic Publication: 2021 Jan 06.
Typ publikacji:
Journal Article
MeSH Terms:
CRISPR-Cas Systems/*genetics
Chlorella vulgaris/*genetics
Gene Editing/*methods
Adenine Phosphoribosyltransferase/genetics ; Adenine Phosphoribosyltransferase/metabolism ; Algal Proteins/genetics ; Algal Proteins/metabolism ; Nitrate Reductase/genetics ; Nitrate Reductase/metabolism ; RNA, Guide, CRISPR-Cas Systems/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The biosynthetic pathway of 2-azahypoxanthine in fairy-ring forming fungus.
Autorzy:
Suzuki T; Center for Bioscience Research and Education, Utsunomiya University, 350 Mine-machi, Utsunomiya, Tochigi 321-8505, Japan.; Research Institute of Green Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.
Yamamoto N; Bioinformatics Laboratory, School of Agriculture, Meiji University, 1-1-1 Higashi-Mita, Kawasaki 214-8571, Japan.
Choi JH; Research Institute of Green Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.; Graduate School of Integrated Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.
Takano T; Bioinformatics Laboratory, School of Agriculture, Meiji University, 1-1-1 Higashi-Mita, Kawasaki 214-8571, Japan.
Sasaki Y; Bioinformatics Laboratory, School of Agriculture, Meiji University, 1-1-1 Higashi-Mita, Kawasaki 214-8571, Japan.
Terashima Y; Graduate School of Integrated Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.
Ito A; Graduate School of Integrated Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.
Dohra H; Research Institute of Green Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.
Hirai H; Research Institute of Green Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.; Graduate School of Integrated Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.; Graduate School of Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.
Nakamura Y; Bioinformatics Laboratory, School of Agriculture, Meiji University, 1-1-1 Higashi-Mita, Kawasaki 214-8571, Japan.
Yano K; Bioinformatics Laboratory, School of Agriculture, Meiji University, 1-1-1 Higashi-Mita, Kawasaki 214-8571, Japan.
Kawagishi H; Research Institute of Green Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.; Graduate School of Integrated Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.; Graduate School of Science and Technology, Shizuoka University, 836 Ohya, Suruga-ku, Shizuoka 422-8529, Japan.
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Źródło:
Scientific reports [Sci Rep] 2016 Dec 19; Vol. 6, pp. 39087. Date of Electronic Publication: 2016 Dec 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adenine Phosphoribosyltransferase/*genetics
Agaricales/*enzymology
Hypoxanthines/*metabolism
Adenine Phosphoribosyltransferase/chemistry ; Adenine Phosphoribosyltransferase/metabolism ; Agaricales/genetics ; Agaricales/metabolism ; Aminoimidazole Carboxamide/analogs & derivatives ; Aminoimidazole Carboxamide/chemistry ; Aminoimidazole Carboxamide/metabolism ; Biosynthetic Pathways ; Cloning, Molecular ; Fungal Proteins/chemistry ; Fungal Proteins/genetics ; Fungal Proteins/metabolism ; Hypoxanthines/chemistry ; Protein Conformation ; Ribonucleotides/chemistry ; Ribonucleotides/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Acyclic nucleoside phosphonates with adenine nucleobase inhibit Trypanosoma brucei adenine phosphoribosyltransferase in vitro.
Autorzy:
Doleželová E; Institute of Parasitology, Biology Centre, Czech Academy of Sciences, Branišovská 31, 37005, České Budějovice, Czech Republic.
Klejch T; The Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Flemingovo nám. 2, 166 10, Prague 6, Czech Republic.
Špaček P; The Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Flemingovo nám. 2, 166 10, Prague 6, Czech Republic.
Slapničková M; Institute of Parasitology, Biology Centre, Czech Academy of Sciences, Branišovská 31, 37005, České Budějovice, Czech Republic.
Guddat L; The School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, QLD, 4072, Australia.
Hocková D; The Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Flemingovo nám. 2, 166 10, Prague 6, Czech Republic. .
Zíková A; Institute of Parasitology, Biology Centre, Czech Academy of Sciences, Branišovská 31, 37005, České Budějovice, Czech Republic. .; Faculty of Science, University of South Bohemia, Branišovská 31, 37005, České Budějovice, Czech Republic. .
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Źródło:
Scientific reports [Sci Rep] 2021 Jun 25; Vol. 11 (1), pp. 13317. Date of Electronic Publication: 2021 Jun 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adenine Nucleotides/*metabolism
Adenine Phosphoribosyltransferase/*metabolism
Nucleosides/*metabolism
Organophosphonates/*metabolism
Trypanosoma brucei brucei/*metabolism
Cell Line ; Cell Line, Tumor ; HeLa Cells ; Humans ; Purines/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A case of 2,8-DHA crystalline nephropathy caused by adenine phosphoribosyltransferase deficiency: diagnosis and treatment
Autorzy:
Kunou, Miyoko
Yamaguchi, Makoto
Takahashi, Hirotake
Kimura, Yukihiro
Watanabe, Naoki
Ito, Mayumi
Sugiyama, Hirokazu
Iwagaitsu, Shiho
Nobata, Hironobu
Kinashi, Hiroshi
Katsuno, TakayukiAff3, Aff4
Banno, Shogo
Ito, Yasuhiko
Ishimoto, TakujiAff3, IDs13730022007681_cor14
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Źródło:
CEN Case Reports: Official Publication of the Japanese Society of Nephrology. 12(3):329-334
Czasopismo naukowe
Szczegóły
Tytuł:
Integrated structural and functional analysis of the protective effects of kinetin against oxidative stress in mammalian cellular systems.
Autorzy:
Naseem M; Department of Life and Environmental Sciences, College of Natural and Health Sciences, Zayed University, Abu Dhabi, UAE. .; Department of Bioinformatics, Biocenter, University of Würzburg, Am Hubland, Wuerzburg, Germany. .
Othman EM; Department of Bioinformatics, Biocenter, University of Würzburg, Am Hubland, Wuerzburg, Germany.; Department of Biochemistry, Faculty of Pharmacy, University of Minia, Minia, Egypt.
Fathy M; Department of Biochemistry, Faculty of Pharmacy, University of Minia, Minia, Egypt.; Department of Regenerative Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.
Iqbal J; Department of Life and Environmental Sciences, College of Natural and Health Sciences, Zayed University, Abu Dhabi, UAE.
Howari FM; Department of Life and Environmental Sciences, College of Natural and Health Sciences, Zayed University, Abu Dhabi, UAE.
AlRemeithi FA; Department of Life and Environmental Sciences, College of Natural and Health Sciences, Zayed University, Abu Dhabi, UAE.
Kodandaraman G; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.
Stopper H; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.
Bencurova E; Department of Bioinformatics, Biocenter, University of Würzburg, Am Hubland, Wuerzburg, Germany.
Vlachakis D; Genetics Laboratory, Department of Biotechnology, Agricultural University of Athens, 75 Iera Odos str, 11855, Athens, Greece.
Dandekar T; Department of Bioinformatics, Biocenter, University of Würzburg, Am Hubland, Wuerzburg, Germany. .
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Źródło:
Scientific reports [Sci Rep] 2020 Aug 07; Vol. 10 (1), pp. 13330. Date of Electronic Publication: 2020 Aug 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Kinetin/*metabolism
Mammals/*metabolism
Oxidative Stress/*physiology
Adenine Phosphoribosyltransferase/metabolism ; Animals ; Cell Line, Tumor ; HL-60 Cells ; Humans ; Oxidation-Reduction ; Receptors, Purinergic P1/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Autorzy:
Ceballos-Picot I; a Université Paris Descartes, Assistance Publique Hôpitaux de Paris, Laboratoire de Biochimie Métabolomique et protéomique, Hôpital Necker-Enfants Malades , Paris , France.
Daudon M
Harambat J
Bensman A
Knebelmann B
Bollée G
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Źródło:
Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2014; Vol. 33 (4-6), pp. 241-52.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Metabolism, Inborn Errors*/diagnosis
Metabolism, Inborn Errors*/epidemiology
Metabolism, Inborn Errors*/metabolism
Metabolism, Inborn Errors*/therapy
Urolithiasis*/diagnosis
Urolithiasis*/epidemiology
Urolithiasis*/metabolism
Urolithiasis*/therapy
Adenine Phosphoribosyltransferase/*deficiency
Adenine Phosphoribosyltransferase/metabolism ; Humans ; Prevalence
SCR Disease Name:
Adenine phosphoribosyltransferase deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hereditary causes of kidney stones and chronic kidney disease.
Autorzy:
Edvardsson VO; The Rare Kidney Stone Consortium, Mayo Clinic, Rochester, MN, USA. />Goldfarb DS
Lieske JC
Beara-Lasic L
Anglani F
Milliner DS
Palsson R
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Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2013 Oct; Vol. 28 (10), pp. 1923-42. Date of Electronic Publication: 2013 Jan 20.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Adenine Phosphoribosyltransferase/*deficiency
Cystinuria/*genetics
Dent Disease/*genetics
Hypercalciuria/*genetics
Hyperoxaluria, Primary/*genetics
Kidney Calculi/*genetics
Metabolism, Inborn Errors/*genetics
Nephrocalcinosis/*genetics
Renal Insufficiency, Chronic/*genetics
Renal Tubular Transport, Inborn Errors/*genetics
Urolithiasis/*genetics
Adenine Phosphoribosyltransferase/genetics ; Animals ; Child ; Cystinuria/diagnosis ; Cystinuria/epidemiology ; Cystinuria/therapy ; Dent Disease/diagnosis ; Dent Disease/epidemiology ; Dent Disease/therapy ; Genetic Predisposition to Disease ; Heredity ; Humans ; Hypercalciuria/diagnosis ; Hypercalciuria/epidemiology ; Hypercalciuria/therapy ; Hyperoxaluria, Primary/diagnosis ; Hyperoxaluria, Primary/epidemiology ; Hyperoxaluria, Primary/therapy ; Kidney Calculi/diagnosis ; Kidney Calculi/epidemiology ; Kidney Calculi/therapy ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/epidemiology ; Metabolism, Inborn Errors/therapy ; Nephrocalcinosis/diagnosis ; Nephrocalcinosis/epidemiology ; Nephrocalcinosis/therapy ; Phenotype ; Prognosis ; Renal Insufficiency, Chronic/diagnosis ; Renal Insufficiency, Chronic/epidemiology ; Renal Insufficiency, Chronic/therapy ; Renal Tubular Transport, Inborn Errors/diagnosis ; Renal Tubular Transport, Inborn Errors/epidemiology ; Renal Tubular Transport, Inborn Errors/therapy ; Risk Factors ; Urolithiasis/diagnosis ; Urolithiasis/epidemiology ; Urolithiasis/therapy
SCR Disease Name:
Adenine phosphoribosyltransferase deficiency; Hypomagnesemia primary
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Efficient Editing of the Nuclear APT Reporter Gene in Chlamydomonas reinhardtii via Expression of a CRISPR-Cas9 Module.
Autorzy:
Guzmán-Zapata D; Instituto Politécnico Nacional, Unidad Profesional Interdisciplinaria de Biotecnología. Av. Acueducto S/N., Col. Barrio La Laguna Ticomán, 07340 Mexico City, Mexico. .
Sandoval-Vargas JM; Instituto Politécnico Nacional, Unidad Profesional Interdisciplinaria de Biotecnología. Av. Acueducto S/N., Col. Barrio La Laguna Ticomán, 07340 Mexico City, Mexico. ibt_jose_.
Macedo-Osorio KS; Instituto Politécnico Nacional, Unidad Profesional Interdisciplinaria de Biotecnología. Av. Acueducto S/N., Col. Barrio La Laguna Ticomán, 07340 Mexico City, Mexico. karla_.
Salgado-Manjarrez E; Instituto Politécnico Nacional, Unidad Profesional Interdisciplinaria de Biotecnología. Av. Acueducto S/N., Col. Barrio La Laguna Ticomán, 07340 Mexico City, Mexico. .
Castrejón-Flores JL; Instituto Politécnico Nacional, Unidad Profesional Interdisciplinaria de Biotecnología. Av. Acueducto S/N., Col. Barrio La Laguna Ticomán, 07340 Mexico City, Mexico. .
Oliver-Salvador MDC; Instituto Politécnico Nacional, Unidad Profesional Interdisciplinaria de Biotecnología. Av. Acueducto S/N., Col. Barrio La Laguna Ticomán, 07340 Mexico City, Mexico. .
Durán-Figueroa NV; Instituto Politécnico Nacional, Unidad Profesional Interdisciplinaria de Biotecnología. Av. Acueducto S/N., Col. Barrio La Laguna Ticomán, 07340 Mexico City, Mexico. .
Nogué F; Institut Jean-Pierre Bourgin, INRA, AgroParisTech, CNRS, Université Paris-Saclay, 78000 Versailles, France. .
Badillo-Corona JA; Instituto Politécnico Nacional, Unidad Profesional Interdisciplinaria de Biotecnología. Av. Acueducto S/N., Col. Barrio La Laguna Ticomán, 07340 Mexico City, Mexico. .
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2019 Mar 12; Vol. 20 (5). Date of Electronic Publication: 2019 Mar 12.
Typ publikacji:
Journal Article
MeSH Terms:
Adenine Phosphoribosyltransferase/*genetics
CRISPR-Associated Protein 9/*genetics
CRISPR-Cas Systems/*genetics
Chlamydomonas reinhardtii/*genetics
Genes, Reporter/*genetics
Clustered Regularly Interspaced Short Palindromic Repeats/genetics ; Electroporation/methods ; Gene Editing/methods ; Plasmids/genetics ; RNA, Guide, CRISPR-Cas Systems/genetics ; Ribonucleoproteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification and characterization of a novel adenine phosphoribosyltransferase gene (ZmAPT2) from maize (Zea mays L.).
Autorzy:
Wu S; The State Key Laboratory of Plant Genomics, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, People's Republic of China. />Yu Z
Wang F
Li W
Yang Q
Ye C
Sun Y
Jin D
Zhao J
Wang B
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Źródło:
DNA sequence : the journal of DNA sequencing and mapping [DNA Seq] 2008 Jun; Vol. 19 (3), pp. 357-65.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adenine Phosphoribosyltransferase/*genetics
Zea mays/*enzymology
Zea mays/*genetics
Adenine Phosphoribosyltransferase/chemistry ; Amino Acid Sequence ; Base Sequence ; Cloning, Molecular ; Gene Dosage ; Gene Expression Regulation, Plant ; Gene Order ; Molecular Sequence Data ; Phylogeny ; Sequence Alignment
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
2,8-dihydroxyadeninuria: are there no cases in Scandinavia?
Autorzy:
Arnadottir M; Department of Internal Medicine, Landspitali University Hospital Hringbraut, Reykjavik, Iceland. />Laxdal T
Halldorsdottir B
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Źródło:
Scandinavian journal of urology and nephrology [Scand J Urol Nephrol] 2005; Vol. 39 (1), pp. 82-6.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Adenine/*analogs & derivatives
Adenine/*urine
Adenine Phosphoribosyltransferase/*deficiency
Urinary Calculi/*etiology
Adenine/metabolism ; Adenine Phosphoribosyltransferase/genetics ; Heterozygote ; Homozygote ; Humans ; Renal Insufficiency/etiology ; Scandinavian and Nordic Countries/epidemiology ; Urinary Calculi/urine
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example.
Autorzy:
Kuno SI; Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan. .; Laboratory for Clinical Genome Informatics, Translational Research Informatics Center, Foundation for Biomedical Research and Innovation, 1-5-4 Minatojima-minamimachi, Chuo-ku, Kobe 650-0047, Japan. .
Taniguchi A; Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan.
Saito A; Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan.; Advanced Research Laboratory, Hitachi Ltd., Tokyo, Japan.
Tsuchida-Otsuka S; Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan.
Kamatani N; Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan.; Division of Genomic Medicine, Department of Advanced Biomedical Engineering and Science, Tokyo Women's Medical University, Tokyo, Japan.
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Źródło:
Journal of human genetics [J Hum Genet] 2004; Vol. 49 (9), pp. 463-473. Date of Electronic Publication: 2004 Jul 28.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adenine Phosphoribosyltransferase/*genetics
Chromosome Mapping/*methods
Genetic Predisposition to Disease/*genetics
Haplotypes/*genetics
Linkage Disequilibrium/*genetics
Adenine Phosphoribosyltransferase/deficiency ; Bayes Theorem ; Case-Control Studies ; DNA Primers ; Gene Frequency ; Genetic Carrier Screening ; Genetic Markers/genetics ; Humans ; Japan
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Substitution rate variation in closely related rodent species.
Autorzy:
Fieldhouse D; Department of Biology, McMaster University, Hamilton, Ontario, Canada.
Yazdani F
Golding GB
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Źródło:
Heredity [Heredity (Edinb)] 1997 Jan; Vol. 78 ( Pt 1), pp. 21-31.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Variation*
Adenine Phosphoribosyltransferase/*genetics
Rodentia/*genetics
Adenine Phosphoribosyltransferase/classification ; Animals ; Base Sequence ; DNA, Complementary ; Molecular Sequence Data ; Multigene Family ; Muridae/genetics ; Phylogeny ; Rats
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
An infant with nephrolithiasis and renal failure: Answers.
Autorzy:
Ueno K; Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan.
Shimizu M; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takaramachi, Kanazawa, 920-8641, Japan. .
Kubo T; Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan.
Igarashi N; Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan.
Hatasaki K; Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan.
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Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2016 Jul; Vol. 31 (7), pp. 1083-4. Date of Electronic Publication: 2015 Apr 11.
Typ publikacji:
Journal Article; Comment
MeSH Terms:
Kidney Calculi*
Renal Insufficiency*
Adenine ; Adenine Phosphoribosyltransferase ; Allopurinol ; Humans ; Infant
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 450

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