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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
by Parsons, Michael T and Tudini, Emma and Li, Hongyan and Hahnen, Eric and Wappenschmidt, Barbara and Feliubadaló, Lidia and Aalfs, Cora M and Agata, Simona and Aittomäki, Kristiina and Alducci, Elisa and Alonso‐Cerezo, María Concepción and Arnold, Norbert and Auber, Bernd and Austin, Rachel and Azzollini, Jacopo and Balmaña, Judith and Barbieri, Elena and Bartram, Claus R and Blanco, Ana and Blümcke, Britta and Bonache, Sandra and Bonanni, Bernardo and Borg, Åke and Bortesi, Beatrice and Brunet, Joan and Bruzzone, Carla and Bucksch, Karolin and Cagnoli, Giulia and Caldés, Trinidad and Caliebe, Almuth and Caligo, Maria A and Calvello, Mariarosaria and Capone, Gabriele L and Caputo, Sandrine M and Carnevali, Ileana and Carrasco, Estela and Caux‐Moncoutier, Virginie and Cavalli, Pietro and Cini, Giulia and Clarke, Edward M and Concolino, Paola and Cops, Elisa J and Cortesi, Laura and Couch, Fergus J and Darder, Esther and Hoya, Miguel and Dean, Michael and Debatin, Irmgard and Del Valle, Jesús and Delnatte, Capucine and Derive, Nicolas and Diez, Orland and Ditsch, Nina and Domchek, Susan M and Dutrannoy, Véronique and Eccles, Diana M and Ehrencrona, Hans and Enders, Ute and Evans, D. Gareth and Farra, Chantal and Faust, Ulrike and Felbor, Ute and Feroce, Irene and Fine, Miriam and Foulkes, William D and Galvao, Henrique C.R and Gambino, Gaetana and Gehrig, Andrea and Gensini, Francesca and Gerdes, Anne‐Marie and Germani, Aldo and Giesecke, Jutta and Gismondi, Viviana and Gómez, Carolina and Garcia, Encarna B and González, Sara and Grau, Elia and Grill, Sabine and Gross, Eva and Guerrieri‐Gonzaga, Aliana and Guillaud‐Bataille, Marine and Gutiérrez‐Enríquez, Sara and Haaf, Thomas and Hackmann, Karl and Hansen, Thomas V.O and Harris, Marion and Hauke, Jan and Heinrich, Tilman and Hellebrand, Heide and Herold, Karen N and Honisch, Ellen and Horvath, Judit and Houdayer, Claude and Hübbel, Verena and Iglesias, Silvia and Izquierdo, Angel and James, Paul A and Janssen, Linda A.M and Jeschke, Udo and Kaulfuß, Silke and ... and KConFab Investigators
Human Mutation, ISSN 1059-7794, 09/2019, Volume 40, Issue 9, pp. 1557 - 1578
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes.... 
uncertain significance | clinical | quantitative | variant | multifactorial | BRCA1 | BRCA2 | classification | RNA | Segregation | BRCA2 protein | Pathogenicity | Splicing | AMP | BRCA1 protein | Classification | Breast cancer | mRNA | Life Sciences | Human health and pathology
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 565 - 574
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 181 - 190
Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms... 
HUTTERITE POPULATION | COMPLEX | TRANSPORT | MUTANTS | DANON-DISEASE | GENE | GENETICS & HEREDITY | COMPONENTS | LINKAGE ANALYSIS | GOLGI | IDENTIFICATION | Sequence Deletion | Vesicular Transport Proteins - metabolism | Humans | Endoplasmic Reticulum - metabolism | Male | Multiprotein Complexes - genetics | Golgi Apparatus - pathology | Syria | Intellectual Disability - genetics | Exome | Young Adult | Endoplasmic Reticulum - pathology | Multiprotein Complexes - metabolism | Lysosomes - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Adult | Female | Ataxia - genetics | Muscular Dystrophies, Limb-Girdle - pathology | Lysosome-Associated Membrane Glycoproteins - metabolism | RNA Splice Sites | Creatine Kinase - blood | Endoplasmic Reticulum - genetics | Movement Disorders - pathology | Vesicular Transport Proteins - genetics | Chromosome Mapping | Muscular Diseases - pathology | Protein Transport | Homozygote | Pedigree | Adolescent | Lysosome-Associated Membrane Glycoproteins - genetics | Protein Binding | Golgi Apparatus - metabolism | Consanguinity | Movement Disorders - genetics | Muscular Diseases - genetics | Lysosomal-Associated Membrane Protein 2 | Golgi Apparatus - genetics | Gene mutations | Physiological aspects | Child development deviations | Muscle diseases | Genetic aspects | Research | Developmental disabilities | Learning disabilities | Genomes | Glycoproteins | Mutation | Motor ability | Index Medicus | Report
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2015, Volume 125, Issue 9, pp. 3585 - 3599
The genetic disorder Kabuki syndrome (KS) is characterized by developmental delay and congenital anomalies. Dominant mutations in the chromatin regulators... 
MEDICINE, RESEARCH & EXPERIMENTAL | ACTIVATION | HISTONE H3 | MAP KINASE | METHYLTRANSFERASE COMPLEX | CELL-MIGRATION | RAP1 | GENES | CONVERGENT EXTENSION | MAKE-UP-SYNDROME | MUTATIONS | Abnormalities, Multiple - metabolism | Face - abnormalities | Hematologic Diseases - metabolism | Humans | Actins - metabolism | Child, Preschool | Male | Neoplasm Proteins - metabolism | Histone Demethylases - genetics | Actins - genetics | DNA-Binding Proteins - metabolism | Exome | Telomere-Binding Proteins - genetics | MAP Kinase Signaling System - genetics | Cattle | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Telomere-Binding Proteins - metabolism | Child | Abnormalities, Multiple - genetics | Disease Models, Animal | Zebrafish Proteins - metabolism | Rats | Nuclear Proteins - metabolism | Zebrafish | Monomeric GTP-Binding Proteins - genetics | DNA-Binding Proteins - genetics | Histone Demethylases - metabolism | Animals | Monomeric GTP-Binding Proteins - metabolism | Vestibular Diseases - metabolism | Hematologic Diseases - genetics | Mice | Mutation | Vestibular Diseases - genetics | Zebrafish Proteins - genetics | Methyltransferases | Abnormalities | Physiological aspects | Kabuki syndrome | Genetic aspects | Research | Risk factors | Proteins | Genes | Software | Chromosomes | Patients | Defects | Index Medicus | Abridged Index Medicus
Journal Article
Oncology Letters, ISSN 1792-1074, 04/2018, Volume 15, Issue 4, pp. 4093 - 4096
Non-small cell neuroendocrine carcinomas (NSCNEC) account for 2% of gynecological cancer cases and are associated with a poor prognosis due to delayed... 
Mutation | Ovarian carcinoma | BRCA2 | Poly (ADP-ribose) polymerase inhibitor | Neuroendocrine carcinoma | SURVIVAL | BRCA2 MUTATIONS | SERIES | neuroendocrine carcinoma | ovarian carcinoma | CLASSIFICATION | CANCER | TUMORS | GYNECOLOGIC TRACT | BREAST | poly (ADP-ribose) polymerase inhibitor | mutation | WOMEN | REPAIR | ONCOLOGY
Journal Article
Human Genetics, ISSN 0340-6717, 1/2014, Volume 133, Issue 1, pp. 29 - 39
Proteoglycan (PG) synthesis begins with the sequential addition of a “linker chain”, made up of four sugar residues, to a specific region of a core protein.... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases
Journal Article
Cancer Medicine, ISSN 2045-7634, 04/2018, Volume 7, Issue 4, pp. 1349 - 1358
Journal Article