TY  - JOUR
AU  - Barad, Maya
AU  - Csukasi, Fabiana
AU  - Bosakova, Michaela
AU  - Martin, Jorge H.
AU  - Zhang, Wenjuan
AU  - Paige Taylor, S.
AU  - Lachman, Ralph S.
AU  - Zieba, Jennifer
AU  - Bamshad, Michael
AU  - Nickerson, Deborah
AU  - Chong, Jessica X.
AU  - Cohn, Daniel H.
AU  - Krejci, Pavel
AU  - Krakow, Deborah
AU  - Duran, Ivan
PY  - 2020
DO  - 10.1016/j.ebiom.2020.103075
UR  - http://hdl.handle.net/10668/3923
T2  - EBioMedicine
AB  - Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with intracellular signaling pathways and cell to cell interactions to control differentiation,...
LA  - en
PB  - Elsevier
KW  - Laminin α5
KW  - LAMA5
KW  - Skeletal dysplasia
KW  - Bent bone
KW  - β1 integrin
KW  - Fibrous dysplasia of bone
KW  - Integrina beta1
KW  - Displasia fibrosa ósea
KW  - Medical Subject Headings::Diseases::Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental
KW  - Medical Subject Headings::Anatomy::Musculoskeletal System::Skeleton::Bone and Bones
KW  - Medical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Cell Adhesion
KW  - Medical Subject Headings::Anatomy::Cells::Connective Tissue Cells::Chondrocytes
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases::Focal Adhesion Protein-Tyrosine Kinases::Focal...
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Glycoproteins::Membrane Glycoproteins::Laminin
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Chemical Processes::Biochemical Processes::Signal Transduction::Wnt Signaling Pathway
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases::src-Family Kinases
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Signal Transduction
TI  - Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia
TY  - research article
ER  -