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Nature Genetics, ISSN 1061-4036, 11/2010, Volume 42, Issue 11, pp. 923 - 924
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 565 - 574
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2013, Volume 8, Issue 11, pp. e78496 - e78496
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 661 - 674
Bone morphogenetic protein 1 (BMP1) is an astacin metalloprotease with important cellular functions and diverse substrates, including extracellular-matrix... 
PROCOLLAGEN C-PROTEINASE | AXIAL SKELETON | IMPERFECTA | RETINOIC ACID | GENETICS & HEREDITY | MUTATIONS | MORPHOGENETIC PROTEIN-1 | METALLOPROTEINASES | CLEAVAGE | IDENTIFICATION | EXPRESSION | Osteogenesis - physiology | Peptide Fragments | Humans | Child, Preschool | Molecular Sequence Data | Male | Genetic Loci | Exome | Bone Morphogenetic Protein 1 - genetics | Base Sequence | Bone and Bones - metabolism | Heat-Shock Proteins | Diphosphonates - therapeutic use | Female | Cell Differentiation | Collagen - biosynthesis | Bone Morphogenetic Protein 1 - metabolism | Osteogenesis - genetics | Osteoblasts - drug effects | Osteoblasts - physiology | Osteogenesis - drug effects | Bone Density Conservation Agents - therapeutic use | Bone Morphogenetic Protein 1 - physiology | Zebrafish - genetics | Animals | Bone Morphogenetic Protein 1 - secretion | Zebrafish - metabolism | Protein Processing, Post-Translational | Mutation | Fractures, Bone - drug therapy | Fractures, Bone - prevention & control | Osteoporosis | Gene mutations | Causes of | Bone morphogenetic proteins | Chemical properties | Research | Nucleotide sequencing | DNA sequencing | Post-translational modification | Peptides | Analysis | Collagen | Medical genetics | Bones | Transforming growth factors | Density | Cells | Proteins | Human subjects | Signal transduction | Zebrafish | Genetics | Index Medicus
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2011, Volume 43, Issue 1, pp. 23 - 26
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, pp. e60264 - e60264
It is known that FGFR2 gene variations confer a risk for breast cancer. FGFR2 and FGF10, the main ligand of FGFR2, are both overexpressed in 5-10% of breast... 
SPECIFICITY | MULTIDISCIPLINARY SCIENCES | GENES | SUSCEPTIBILITY | SKELETAL DYSPLASIA | GROWTH-FACTOR RECEPTORS | DISORDERS | MICE | KINASE ACTIVATION | CRANIOSYNOSTOSIS | GENOME-WIDE ASSOCIATION | Gene Dosage - genetics | Immunoprecipitation | Mutagenesis, Site-Directed | Genetic Association Studies | Protein-Tyrosine Kinases - metabolism | Humans | Molecular Sequence Data | Immunoblotting | DNA Primers - genetics | Signal Transduction - genetics | Multiplex Polymerase Chain Reaction | Breast Neoplasms - physiopathology | Mutation, Missense - genetics | Protein-Tyrosine Kinases - genetics | Breast Neoplasms - genetics | DNA Mutational Analysis | Base Sequence | HEK293 Cells | Female | Signal Transduction - physiology | Fibroblast Growth Factor 10 - genetics | Germany | Receptor, Fibroblast Growth Factor, Type 2 - genetics | Tyrosine | Gene mutations | Analysis | Breast cancer | Genetic aspects | Fibroblast growth factors | Health aspects | Phosphorylation | Copy number | Pathogenesis | Downstream effects | Genes | Amino acids | Genomes | Kinases | Cell adhesion & migration | Proteins | Missense mutation | Rodents | Fibroblasts | Aging | Genetics | Growth factors | Protein-tyrosine kinase | Fibroblast growth factor receptor 2 | Fibroblast growth factor 10 | Gynecology | Health risks | Functional analysis | Obstetrics | Medicine | Signaling | Breast | Ligands | Mutation | Tumors | Cancer | Index Medicus
Journal Article
DMW - Deutsche Medizinische Wochenschrift, ISSN 0012-0472, 05/2017, Volume 142, Issue 9, pp. 657 - 664
Abstract Cardiomyopathies often have a genetic etiology. New genetic diagnostic strategies based on next generation sequencing (NGS)-approaches will... 
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Journal Article