المؤلفون: Duran, Ivan, Zieba, Jennifer, Csukasi, Fabiana, Martin, Jorge, Wachtell, Davis, Barad, Maya, Dawson, Brian, Fafilek, Bohumil, Jacobsen, Christina, Ambrose, Catherine, Cohn, Daniel, Krejci, Pavel, Lee, Brendan, Krakow, Deborah

المصدر: Journal of Bone and Mineral Research. 37(4)

مصطلحات موضوعية: 4-PBA, Aga2, Bip+/−, Chop−/−, ER stress, bone, osteogenesis imperfecta, Animals, Butylamines, Collagen Type I, Disease Models, Animal, Mice, Molecular Chaperones, Mutation, Osteoblasts, Osteogenesis, Osteogenesis Imperfecta, Phenotype

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7t28j1bh

المؤلفون: Barad, Maya, Csukasi, Fabiana, Bosakova, Michaela, Martin, Jorge H, Zhang, Wenjuan, Taylor, S Paige, Lachman, Ralph S, Zieba, Jennifer, Bamshad, Michael, Nickerson, Deborah, Chong, Jessica X, Cohn, Daniel H, Krejci, Pavel, Krakow, Deborah, Duran, Ivan

مصطلحات موضوعية: Epidemiology, Biomedical and Clinical Sciences, Clinical Sciences, Health Sciences, Genetics, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Alleles, Bone Diseases, Developmental, Bone and Bones, Cell Adhesion, Chondrocytes, DNA Mutational Analysis, Focal Adhesion Kinase 2, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Laminin, Mutation, Phenotype, Signal Transduction, Wnt Signaling Pathway, src-Family Kinases, Laminin alpha 5, LAMA5, Skeletal dysplasia, Bent bone, beta 1 integrin, Laminin α5, β1 integrin, Public Health and Health Services, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/61z468bp

المؤلفون: Csukasi, Fabiana, Duran, Ivan, Barad, Maya, Barta, Tomas, Gudernova, Iva, Trantirek, Lukas, Martin, Jorge H, Kuo, Caroline Y, Woods, Jeremy, Lee, Hane, Cohn, Daniel H, Krejci, Pavel, Krakow, Deborah

المصدر: Science Translational Medicine. 10(459)

مصطلحات موضوعية: Amino Acid Sequence, Growth Plate, HEK293 Cells, Homozygote, Humans, Inheritance Patterns, Intracellular Signaling Peptides and Proteins, Mechanistic Target of Rapamycin Complex 1, Mechanistic Target of Rapamycin Complex 2, Mutant Proteins, Mutation, Missense, Osteogenesis, Parathyroid Hormone, Parathyroid Hormone-Related Protein, Protein Kinases, Proteolysis, Signal Transduction, TOR Serine-Threonine Kinases, Biological Sciences, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3rh3f60h

المؤلفون: Duran, Ivan, Tenney, Jessica, Warren, Carmen M, Sarukhanov, Anna, Csukasi, Fabiana, Skalansky, Mark, Iruela‐Arispe, Maria L, Krakow, Deborah

المصدر: American Journal of Medical Genetics Part A. 176(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Heart Disease, Genetics, Cardiovascular, 1.1 Normal biological development and functioning, Underpinning research, 2.1 Biological and endogenous factors, Aetiology, Biomarkers, Comparative Genomic Hybridization, DNA Mutational Analysis, Endothelial Cells, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Haploinsufficiency, Humans, Neuropilin-1, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Tetralogy of Fallot, Ultrasonography, chromosomal deletion, congenital heart disease, neuropilin 1, prenatal ultrasound, tetralogy of fallot, Clinical Sciences, Clinical sciences

URL الوصول: https://escholarship.org/uc/item/1kz8q700

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المؤلفون: Pattison, Richard J., Csukasi, Fabiana, Zheng, Yi, Fei, Zhangjun, van der Knaap, Esther, Catalá, Carmen

المصدر: Plant Physiology, 2015 Aug 01. 168(4), 1684-1701.

URL الوصول: https://www.jstor.org/stable/24805568

المؤلفون: Duran, Ivan, Csukasi, Fabiana, Zieba, Jennifer, Martin, Jorge, Barad, Maya, Jacobson, Christina, Ambrose, Catherine, Cohn, Daniel, Krejci, Pavel, Lee, Brendan, Krakow, Deborah

المصدر: In Bone Reports May 2022 16 Supplement

المؤلفون: Csukasi, Fabiana, Osorio, Sonia, Gutierrez, Jose R., Kitamura, Jun, Giavalisco, Patrick, Nakajima, Masatoshi, Fernie, Alisdair R., Rathjen, John P., Botella, Miguel A., Valpuesta, Victoriano, Medina-Escobar, Nieves

المصدر: The New Phytologist, 2011 Jul 01. 191(2), 376-390.

URL الوصول: https://www.jstor.org/stable/20869174

المؤلفون: Perez-Tejeiro, Jose Miguel, Csukasi, Fabiana

المساهمون: [Perez-Tejeiro,JM, Csukasi,F] Department of Cell Biology, Genetics and Physiology, Faculty of Sciences, IBIMA, University of Málaga, Málaga, Spain. [Perez-Tejeiro,JM, Csukasi,F] Biomaterials and Nanomedicine (CIBER-BBN), Andalusian Centre for Nanomedicine and Biotechnology-BIONAND, Networking Biomedical Research Center in Bioengineering, Málaga, Spain., Junta de Andalucia: CV20-81404, UMA18-FEDERJA-177. CIBER Actions, the Instituto de Salud Carlos III, Regional Government of Andalusia (PAIDI group BIO-217), and University of Malaga (Plan Propio).

مصطلحات موضوعية: Anatomy::Musculoskeletal System::Skeleton::Bone and Bones [Medical Subject Headings], Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology [Medical Subject Headings], DEPTOR, Cartílago, Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::Signal Transduction [Medical Subject Headings], Esqueleto, Proteína reguladora asociada a mTOR, Diana mecanicista del complejo 1 de la rapamicina, Chemicals and Drugs::Organic Chemicals::Lactones::Macrolides::Sirolimus [Medical Subject Headings], Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Molecular Structure::Molecular Conformation::Protein Conformation::Protein Structure, Tertiary::Protein Interaction Domains and Motifs::PDZ Domains [Medical Subject Headings], Cartilage, Anatomy::Cells::Cellular Structures::Chromosomes::Chromosomes, Mammalian::Chromosomes, Human::Chromosomes, Human, 6-12 and X::Chromosomes, Human, Pair 8 [Medical Subject Headings], mTOR, Organisms::Eukaryota::Animals [Medical Subject Headings], Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Serine-Threonine Kinases::TOR Serine-Threonine Kinases [Medical Subject Headings], Bone, Huesos, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Cytological Techniques [Medical Subject Headings], Phenomena and Processes::Physiological Phenomena::Physiological Processes::Homeostasis [Medical Subject Headings], Skeleton, Anatomy::Cells::Cellular Structures::Cell Membrane [Medical Subject Headings]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2636::9e36e7f59c454fc6ec0b0258938b567e
https://hdl.handle.net/10668/4091