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المؤلفون: Ann Stepanchick, Jonathan Z. Luo, Bryn S. Moore, Tooraj Mirshahi
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Genetics, Skin Neoplasms, integumentary system, Receptor expression, Genetic Variation, Biology, medicine.disease, Penetrance, Phenotype, Human genetics, Article, medicine, Missense mutation, Humans, Exome, Expressivity (genetics), Skin cancer, Hair Color, Receptor, Melanocortin, Type 1, Genetics (clinical), Exome sequencing, Alleles
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2
المؤلفون: Paul Tewson, Anne Marie Quinn, Cassandra M. Hartle, Bryn S. Moore, Jin Zhang, Tooraj Mirshahi, Ann Stepanchick, Thomas E. Hughes
المصدر: Proceedings of the National Academy of Sciences. 113:13069-13074
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Gs alpha subunit, Gi alpha subunit, Cell Line, Adenylyl cyclase, Mice, 03 medical and health sciences, chemistry.chemical_compound, Phosphatidylinositol Phosphates, GLI1, Internal medicine, Cyclic AMP, medicine, Animals, Hedgehog Proteins, Cilia, Sonic hedgehog, Protein kinase A, Cells, Cultured, Multidisciplinary, biology, Cilium, Fibroblasts, Biological Sciences, Cyclic AMP-Dependent Protein Kinases, Hedgehog signaling pathway, Cell biology, 030104 developmental biology, Endocrinology, chemistry, biology.protein, Calcium
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75e04321c585c44920fdbeaad139ba94
https://doi.org/10.1073/pnas.1602393113 -
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المؤلفون: Shane McCarthy, Jonathan C. Cohen, Frederick E. Dewey, Claudia Schurmann, Matthew D. Still, Panayiotis Stevis, Xin Chu, Daniel J. Rader, David J. Carey, Alan R. Shuldiner, Noura S. Abul-Husn, Semanti Mukherjee, Jonathan S. Packer, Xiping Cheng, Ann Stepanchick, Brian Zambrowicz, Helen H. Hobbs, John Penn, Uyenlinh L. Mirshahi, Scott M. Damrauer, Ingrid B. Borecki, Yurong Xin, G. Craig Wood, Jesper Gromada, Suganthi Balasubramanian, Tanya M. Teslovich, Andrew J. Murphy, Erin D. Fuller, Christopher D. Still, Tooraj Mirshahi, Jonathan Z. Luo, John D. Overton, George D. Yancopoulos, Yashu Liu, Alexander H. Li, Aeron Small, Omri Gottesman, Julia Kozlitina, Jeffrey G. Reid, Stefan Stender, David Esopi, William C. Olson, Michael Feldman, Colm O'Dushlaine, Alexander E. Lopez, Nehal Gosalia, Sun Y. Kim, Aris Baras
المصدر: The New England journal of medicine. 378(12)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, 17-Hydroxysteroid Dehydrogenases, Genotype, Chronic liver disease, Gastroenterology, Article, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Non-alcoholic Fatty Liver Disease, Loss of Function Mutation, Internal medicine, Exome Sequencing, Medicine, Humans, Exome, Genetic Predisposition to Disease, Aspartate Aminotransferases, Exome sequencing, biology, business.industry, Sequence Analysis, RNA, Liver Diseases, Fatty liver, Genetic Variation, Alanine Transaminase, General Medicine, medicine.disease, Human genetics, Fatty Liver, 030104 developmental biology, Alanine transaminase, Liver, Chronic Disease, biology.protein, Disease Progression, Linear Models, 030211 gastroenterology & hepatology, Female, business, Biomarkers, TM6SF2
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4
المصدر: Journal of Biological Chemistry. 285:19854-19864
مصطلحات موضوعية: Time Factors, Leupeptins, Protein Conformation, Recombinant Fusion Proteins, Blotting, Western, Green Fluorescent Proteins, Allosteric regulation, Cysteine Proteinase Inhibitors, Endoplasmic-reticulum-associated protein degradation, Biology, Endoplasmic Reticulum, Sulfur Radioisotopes, Transfection, Biochemistry, Cell Line, Protein structure, Phenethylamines, Protein biosynthesis, Humans, Cysteine, Molecular Biology, Aniline Compounds, Propylamines, Endoplasmic reticulum, Cell Membrane, Neomycin, Cell Biology, Cell biology, Protein Transport, Protein Synthesis and Degradation, Protein Biosynthesis, Mutation, Calcium, Mutant Proteins, Calcium-sensing receptor, Receptors, Calcium-Sensing, Intracellular
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8358541565f51c09cc1da586e537487f
https://doi.org/10.1074/jbc.m110.124792 -
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المؤلفون: Ann Stepanchick, Michael F. Murray, Tooraj Mirshahi, Kandamurugu Manickam, Jonathan Z. Luo, Dustin N. Hartzel, Uyenlinh L. Mirshahi, Cassandra M. Hartle
المصدر: Biophysical Journal. 114:123a
مصطلحات موضوعية: education.field_of_study, Population, Biophysics, Computational biology, Biology, education, Functional analysis (psychology), Exome sequencing
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المؤلفون: Jonathan Z. Luo, Ann Stepanchick, Bryn S. Moore, Tooraj Mirshahi
المصدر: Biophysical Journal. 114:643a
مصطلحات موضوعية: Polycystin-1, education.field_of_study, Polycystin 2, Chemistry, Cilium, Biophysics, education, Hedgehog signaling pathway, Calcium entry, Cell biology
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7
المصدر: Cellular Physiology and Biochemistry. 26:363-374
مصطلحات موضوعية: Physiology, Amino Acid Motifs, Biology, Endoplasmic Reticulum, Cell Line, medicine, Humans, Amino Acid Sequence, Calcium Signaling, Phosphorylation, Protein kinase A, Peptide sequence, Protein kinase C, Calcium signaling, Original Paper, Epilepsy, Familial hypocalciuric hypercalcemia, Endoplasmic reticulum, Cell Membrane, medicine.disease, Cell biology, 14-3-3 Proteins, Amino Acid Substitution, Pancreatitis, Biochemistry, Mutagenesis, Site-Directed, Calcium-sensing receptor, Receptors, Calcium-Sensing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9935955b248a96871dd70f89a9a76a4
https://doi.org/10.1159/000320560 -
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المؤلفون: David A. Schneider, Ann Stepanchick, Lawrence I. Rothblum, Alice H. Cavanaugh, Huijun Zhi, Katrina Rothblum
مصطلحات موضوعية: Insecta, Saccharomyces cerevisiae Proteins, Transcription, Genetic, Molecular Sequence Data, RNA polymerase II, Biology, Biochemistry, DNA, Ribosomal, Cell Line, Mice, Animals, Humans, Gene Regulation, Amino Acid Sequence, Promoter Regions, Genetic, Molecular Biology, Transcription bubble, TATA-Binding Protein Associated Factors, General transcription factor, Sequence Homology, Amino Acid, Promoter, Cell Biology, DNA-binding domain, DNA, Molecular biology, Cell biology, DNA-Binding Proteins, Mutagenesis, biology.protein, RNA, Transcription Factor TFIID, Transcription factor II E, Transcription factor II D, Transcription factor II B, Pol1 Transcription Initiation Complex Proteins, Ribosomes, Cell Nucleolus, Gene Deletion, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08f7aa5aca0eccff09dab5d8f3245687
https://europepmc.org/articles/PMC3610986/ -
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المؤلفون: Gerda E. Breitwieser, Michael P. Grant, Ann Stepanchick
المصدر: Molecular endocrinology (Baltimore, Md.). 26(12)
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Biology, Endoplasmic Reticulum, Infant, Newborn, Diseases, Cell Line, Endocrinology, Internal medicine, medicine, Extracellular, Fluorescence Resonance Energy Transfer, Humans, Calcium Signaling, Receptor, Molecular Biology, Calcium signaling, Original Research, Hyperparathyroidism, Familial hypocalciuric hypercalcemia, Cell Membrane, General Medicine, medicine.disease, Hyperparathyroidism, Primary, Protein Transport, HEK293 Cells, Hypercalcemia, Calcium, Calcium-sensing receptor, Receptors, Calcium-Sensing, Homeostasis, Intracellular
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c193d29fbdfa7ae93ba18afe92aa73
https://pubmed.ncbi.nlm.nih.gov/23077345 -
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المصدر: Science signaling. 4(200)
مصطلحات موضوعية: Agonist, Cell signaling, Perinuclear endoplasmic reticulum, medicine.drug_class, G protein, Calnexin, Cell Membrane, Cell Biology, Biology, Endocytosis, Biochemistry, Cell biology, Protein Transport, HEK293 Cells, 14-3-3 Proteins, medicine, Humans, Peptide hormone secretion, Calcium, Calcium Signaling, Receptor, Molecular Biology, Receptors, Calcium-Sensing, Secretory pathway
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c50d55cb7d8a8ec6a8e470f27d06ec3c
https://pubmed.ncbi.nlm.nih.gov/22114145