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المؤلفون: Melissa Reske, James W. Verbsky, Susanna A. McColley, Shuang Jia, Melodee Nugent, Keven Johnson, Michael W. Quasney, Mary K. Dahmer, Pippa Simpson, Trivikram Dasu, Katherine Woods, Xi Zhang, Martin J. Hessner, Diana Quintero, Justin E. Ideozu, Carolyn L. Cannon, Amy Pan, Michael M. Renda, Ellis D. Avner, Mary L. Kaldunski, Howard J. Jacob, Philip M. Farrell, Hara Levy, Rachel A. Feliciano, Kathy Murkowski
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Disease status, Adolescent, Cystic Fibrosis, Genotype, Physiology, Neutrophils, Cystic Fibrosis Transmembrane Conductance Regulator, Inflammation, Blood Donors, 030204 cardiovascular system & hematology, Biology, Bioinformatics, Cystic fibrosis, Immunophenotyping, Gene product, Cohort Studies, 03 medical and health sciences, Plasma, Young Adult, 0302 clinical medicine, Genetics, medicine, Humans, Child, Oligonucleotide Array Sequence Analysis, RNA, Middle Aged, medicine.disease, 030104 developmental biology, Lung disease, Case-Control Studies, Child, Preschool, Mutation, Leukocytes, Mononuclear, Cytokines, Identification (biology), Female, medicine.symptom, Reactive Oxygen Species, Transcriptome, Functional genomics, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee24731e6d7e58fd71daaf0f276eb445Test
https://europepmc.org/articles/PMC6383551Test/ -
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المؤلفون: Joe B. Blumer, Ellis D. Avner, Kevin R. Regner, Stephen M. Lanier, Frank Park, William E. Sweeney, Kandai Nozu
المصدر: The FASEB Journal. 25:1844-1855
مصطلحات موضوعية: Male, Time Factors, Genotype, Biology, urologic and male genital diseases, Biochemistry, Research Communications, Rats, Sprague-Dawley, Mice, Genetics, medicine, Animals, Regeneration, Receptor, Molecular Biology, Renal stem cell, Guanine Nucleotide Dissociation Inhibitors, urogenital system, Activator (genetics), Cell growth, Acute kidney injury, Acute Kidney Injury, medicine.disease, Rats, Cell biology, Mice, Inbred C57BL, Ki-67 Antigen, Kidney Tubules, Gene Expression Regulation, Reperfusion Injury, Immunology, Signal transduction, Carrier Proteins, Reperfusion injury, Intracellular, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3830f006c24da46a29875ef6b12a731Test
https://doi.org/10.1096/fj.10-169797Test -
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المؤلفون: William E. Sweeney, Ellis D. Avner
المصدر: Cell and Tissue Research. 326:671-685
مصطلحات موضوعية: medicine.medical_specialty, Histology, Genetic Linkage, Autosomal dominant polycystic kidney disease, Receptors, Cell Surface, Disease, Biology, urologic and male genital diseases, Models, Biological, Pathology and Forensic Medicine, Molecular genetics, Cyclic AMP, medicine, Humans, Cyst, Molecular Biology, Polycystic Kidney, Autosomal Recessive, Genetics, Tumor Suppressor Proteins, Membrane Proteins, Epithelial Cells, Cell Biology, Autosomal recessive polycystic kidney disease (ARPKD), medicine.disease, Molecular medicine, female genital diseases and pregnancy complications, Autosomal Recessive Polycystic Kidney Disease, Human genetics, ErbB Receptors, Mutation, Cancer research, Chromosomes, Human, Pair 6, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c277aa87fbbe4a3553a8adca002a196Test
https://doi.org/10.1007/s00441-006-0226-0Test -
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المؤلفون: Klaus Zerres, Jan Senderek, Carsten Bergmann, Markus Moser, Reinhard Büttner, Xiaoying Hou, Stefan Somlo, Luiz F. Onuchic, Laszlo Furu, Lisa M. Guay-Woodford, Gregory G. Germino, Raoul Zeltner, Ellis D. Avner, Sonja Matthiesen, Yasuyuki Nagasawa, Zhiyong Ren, Ernie L. Esquivel
المصدر: Journal of the American Society of Nephrology. 13:2246-2258
مصطلحات موضوعية: Signal peptide, TRPP Cation Channels, RNA Splicing, Molecular Sequence Data, Receptors, Cell Surface, Biology, medicine.disease_cause, Mice, Exon, medicine, Animals, Humans, RNA, Messenger, Gene, In Situ Hybridization, Genetics, Regulation of gene expression, Mutation, Gene Expression Regulation, Developmental, Proteins, Exons, Genomics, General Medicine, Transmembrane protein, genomic DNA, Kidney Tubules, Nephrology, RNA splicing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ef98b07e1f3645416841cbafdcea9dbTest
https://doi.org/10.1097/01.asn.0000030392.19694.9dTest -
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المؤلفون: Thomas Eggermann, Lisa M. Guay-Woodford, Yasuyuki Nagasawa, Luiz F. Onuchic, Carsten Bergmann, Ellis D. Avner, Xiaoying Hou, Laszlo Furu, Gregory G. Germino, Stefan Somlo, Klaus Zerres, Michal Mrug
المصدر: American Journal of Medical Genetics. 110:346-352
مصطلحات موضوعية: Male, Candidate gene, Positional cloning, Molecular Sequence Data, Gene Expression, Receptors, Cell Surface, Locus (genetics), Biology, Gene mapping, Polycystic kidney disease, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, RNA, Messenger, Genetics (clinical), Polycystic Kidney, Autosomal Recessive, Genetics, Base Sequence, Contig, Chromosome Mapping, Blotting, Northern, medicine.disease, Autosomal Recessive Polycystic Kidney Disease, Genetic marker, Chromosomes, Human, Pair 6, Female, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e926cfb89d15295598d705669eb167fdTest
https://doi.org/10.1002/ajmg.10468Test -
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المؤلفون: Carol Moreno, Howard J. Jacob, Michael J. Flister, Bradley T. Endres, Matthew Hoffman, Ellis D. Avner, William E. Sweeney
المصدر: The FASEB Journal. 28
مصطلحات موضوعية: Genetics, business.industry, Medicine, business, Molecular Biology, Biochemistry, Autosomal Recessive Polycystic Kidney Disease, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3927f3695ab4e500530c2c2b8e9407d5Test
https://doi.org/10.1096/fasebj.28.1_supplement.1179.1Test -
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المؤلفون: Klaus Zerres, Michal Mrug, Jutta Becker, Mehul Dixit, Gabi Muecher, Lisa M. Guay-Woodford, Luiz F. Onuchic, Alicia Lakings, Stefan Somlo, Gregory G. Germino, Ellis D. Avner
المصدر: Mammalian Genome. 10:1175-1178
مصطلحات موضوعية: Candidate gene, Genetic Linkage, DNA Mutational Analysis, Biology, Kidney, Open Reading Frames, Genetics, Humans, RNA, Messenger, Child, Gene, Polymorphism, Single-Stranded Conformational, Polycystic Kidney, Autosomal Recessive, Genomic organization, Regulation of gene expression, Membrane Glycoproteins, Base Sequence, Sequence Homology, Amino Acid, PKD1, Membrane transport protein, Liver Diseases, Gene Expression Regulation, Developmental, Membrane Transport Proteins, Kidney metabolism, Exons, Introns, Human genetics, Liver, biology.protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c94608ae9f541d11bc43649aefdcca28Test
https://doi.org/10.1007/s003359901186Test -
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المؤلفون: Luiz F. Onuchic, Michael Knapp, Stefan Somlo, Klaus Zerres, G. G. Germino, Jutta Becker, Lisa M. Guay-Woodford, Markus Moser, Gabi Mücher, Reinhard Büttner, Sabine Rudnik-Schöneborn, Ellis D. Avner
المصدر: Genomics. 48:40-45
مصطلحات موضوعية: Male, Linkage disequilibrium, Locus (genetics), Protein Serine-Threonine Kinases, Biology, Linkage Disequilibrium, Gene mapping, Genetic linkage, Genetics, medicine, Humans, Casein Kinase II, Glutathione Transferase, Polycystic Kidney, Autosomal Recessive, Retinal Degeneration, Haplotype, Chromosome Mapping, Methylmalonyl-CoA Mutase, Autosomal recessive polycystic kidney disease (ARPKD), medicine.disease, Autosomal Recessive Polycystic Kidney Disease, Pedigree, Haplotypes, Genetic marker, Chromosomes, Human, Pair 6, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2541a2b359f81d29dcf482707537a98cTest
https://doi.org/10.1006/geno.1997.5145Test -
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المؤلفون: William R. Collier, Lisa M. Guay-Woodford, Elizabeth C. Bryda, Brian Christine, J. Russell Lindsey, Lorraine Flaherty, Ellis D. Avner, Peter D'Eustachio
المصدر: Kidney International. 50(4):1158-1165
مصطلحات موضوعية: Male, 030232 urology & nephrology, Locus (genetics), Biology, Kidney, Pathogenesis, Mice, 03 medical and health sciences, 0302 clinical medicine, Polycystic kidney disease, medicine, Animals, Cyst, Allele, Alleles, Crosses, Genetic, 030304 developmental biology, Recombination, Genetic, Genetics, Mice, Inbred BALB C, Polycystic Kidney Diseases, 0303 health sciences, Genetic Complementation Test, Chromosome Mapping, medicine.disease, musculoskeletal system, Phenotype, Autosomal Recessive Polycystic Kidney Disease, Complementation, Disease Models, Animal, Animals, Newborn, Nephrology, Mutation, cardiovascular system, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a328f8dc97b94a3d2d76767612e548cdTest
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المؤلفون: Laszlo Furu, Ali G. Gharavi, Yasuyuki Nagasawa, Gregory G. Germino, Xiaoying Hou, Luiz F. Onuchic, Stefan Somlo, Ernie L. Esquivel, Lisa M. Guay-Woodford, Ellis D. Avner, Klaus Zerres, Jan Senderek, Carsten Bergmann
المصدر: Journal of the American Society of Nephrology : JASN. 14(8)
مصطلحات موضوعية: Heterozygote, Time Factors, Genotype, DNA Mutational Analysis, Fibrocystin, Locus (genetics), Genes, Recessive, Receptors, Cell Surface, Germline mutation, medicine, Polycystic kidney disease, Humans, Amino Acids, Child, DNA Primers, Genetics, Polycystic Kidney Diseases, Polymorphism, Genetic, biology, Models, Genetic, Infant, Newborn, Infant, General Medicine, Exons, Autosomal recessive polycystic kidney disease (ARPKD), medicine.disease, Prognosis, Autosomal Recessive Polycystic Kidney Disease, Protein Structure, Tertiary, Phenotype, Treatment Outcome, Nephrology, Child, Preschool, Mutation, biology.protein, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::916b34b8ac4a59ffc18120cbf832cdcaTest
https://pubmed.ncbi.nlm.nih.gov/12874454Test