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Journal of Immunology, ISSN 0022-1767, 10/2012, Volume 189, Issue 8, pp. 3957 - 3969
The lectin pathway of complement is an important component of innate immunity. Its activation has been thought to occur via recognition of pathogens by... 
SYSTEM | INDIVIDUALS | PATTERN-RECOGNITION MOLECULES | COMPLEMENT FACTOR-D | MBL | 3MC SYNDROME | STOICHIOMETRY | MUTATIONS | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | Craniofacial Abnormalities - immunology | Transcriptional Activation - genetics | Complement Pathway, Mannose-Binding Lectin - immunology | Blepharoptosis - genetics | Eye Abnormalities - enzymology | Mannose-Binding Protein-Associated Serine Proteases - physiology | Eye Abnormalities - immunology | Humans | Heart Defects, Congenital - immunology | Craniosynostoses - enzymology | Blepharoptosis - immunology | Developmental Disabilities - genetics | Transcriptional Activation - immunology | Strabismus - genetics | Abdominal Muscles - abnormalities | Abnormalities, Multiple - immunology | Heart Defects, Congenital - genetics | Developmental Disabilities - enzymology | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Mannose-Binding Protein-Associated Serine Proteases - genetics | Complement Pathway, Alternative - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Strabismus - enzymology | Abdominal Muscles - immunology | Craniosynostoses - genetics | Complement Pathway, Mannose-Binding Lectin - genetics | Cryptorchidism - enzymology | Abdominal Muscles - enzymology | Hip Dislocation, Congenital - genetics | Codon, Nonsense | Eye Abnormalities - genetics | Animals | Craniofacial Abnormalities - enzymology | Craniosynostoses - immunology | Cryptorchidism - immunology | Hip Dislocation, Congenital - immunology | Complement Pathway, Alternative - immunology | Strabismus - immunology | Abnormalities, Multiple - enzymology | Developmental Disabilities - immunology | Hip Dislocation, Congenital - enzymology | Cryptorchidism - genetics | Index Medicus | Abridged Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, pp. 121 - 135
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2018, Volume 27, Issue 10, pp. 1743 - 1753
Abstract LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively... 
TRANSLOCATION | CODAS SYNDROME | DNA | SUBSTRATE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COPY NUMBER | GENETICS & HEREDITY | DEGRADATION | MUTATIONS | TRANSCRIPTION FACTOR | BINDING | AAA PROTEASE | Hip Dislocation, Congenital - metabolism | ATP-Dependent Proteases - genetics | Tooth Abnormalities - physiopathology | Tooth Abnormalities - metabolism | Humans | Mitochondrial Diseases - metabolism | Infant | Male | Leigh Disease - metabolism | Mitochondrial Proteins - genetics | Craniofacial Abnormalities - physiopathology | Osteochondrodysplasias - genetics | Mitochondria - genetics | Craniofacial Abnormalities - metabolism | Eye Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Leigh Disease - physiopathology | Mitochondrial Diseases - genetics | Cell Line | Tooth Abnormalities - genetics | Oxidative Phosphorylation | Hip Dislocation, Congenital - genetics | Mitochondria - pathology | Eye Abnormalities - genetics | Leigh Disease - genetics | Whole Exome Sequencing | Exome - genetics | Osteochondrodysplasias - physiopathology | Growth Disorders - metabolism | Biopsy | Muscle, Skeletal - physiopathology | Eye Abnormalities - physiopathology | Hip Dislocation, Congenital - physiopathology | Mutation | Growth Disorders - genetics | Mitochondrial Diseases - physiopathology | Growth Disorders - physiopathology | Osteochondrodysplasias - metabolism | Index Medicus | transcription factor | translocation | binding | degradation | aaa protease | Genetics & Heredity | Medicinsk genetik | Medical Genetics | Biochemistry & Molecular Biology | mutations | Biokemi och molekylärbiologi | codas syndrome | dna | Biochemistry and Molecular Biology | copy number | substrate
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 87, Issue 5, pp. 679 - 686
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 04/2017, Volume 485, Issue 2, pp. 400 - 408
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2017, Volume 18, Issue 1, pp. 34 - 34
Background: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital... 
ATP2B4 | Developmental dysplasia of the hip | HSPG2 | Exome sequencing | Perlecan | SCHWARTZ-JAMPEL-SYNDROME | POPULATION | PROTEIN STABILITY | CONGENITAL DISLOCATION | POLYMORPHISM | DEFICIENCY | GENETICS & HEREDITY | MUTATIONS | OSTEOARTHRITIS | ASSOCIATION | Haplotypes | Genetic Testing | Plasma Membrane Calcium-Transporting ATPases - genetics | Humans | Genotype | Hip Dislocation, Congenital - genetics | Male | DNA - metabolism | Mutation, Missense | Sequence Analysis, DNA | Hip Dislocation, Congenital - pathology | Genetic Variation | DNA - isolation & purification | DNA - chemistry | Phenotype | Heparan Sulfate Proteoglycans - genetics | Pedigree | Base Sequence | Alleles | Adult | Female | Heterozygote | Polymorphism, Single Nucleotide | Animal models | Exons | Genes | Genomes | Arthritis | Acetylcholinesterase | Risk factors | Mimicry | Ca2+-transporting ATPase | Proteins | Interleukin 6 | Precipitation | DNA fragmentation | Bone dysplasia | Paralysis | Chromosomes | Bioinformatics | Heart diseases | Deoxyribonucleic acid--DNA | Kidneys | Denaturation | Amino acid sequence | Acetabulum | Transmissible spongiform encephalopathy | Basement membranes | Hip | Computer programs | Studies | Radiography | Osteoclastogenesis | Bone mass | Computer applications | Software | Mutation | Kidney transplantation | Index Medicus
Journal Article