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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
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 282 - 289
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 2017, Volume 216, Issue 1, pp. 247 - 263
Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is... 
JOUBERT-SYNDROME | CELLS | HEDGEHOG PATHWAY | INOSITOL-POLYPHOSPHATE 5-PHOSPHATASE | CANDIDA-ALBICANS | FLOOR PLATE | PROTEIN-COUPLED RECEPTOR | MUTATIONS | PLASMA-MEMBRANE | TUMOR-ANTIGEN | CELL BIOLOGY | Phosphatidylinositol Phosphates - metabolism | Eye Abnormalities - enzymology | Humans | Zinc Finger Protein Gli2 | Phosphoric Monoester Hydrolases - deficiency | Hedgehog Proteins - metabolism | Cerebellum - enzymology | Smoothened Receptor - metabolism | Cerebellum - abnormalities | Smoothened Receptor - genetics | Phosphatidylinositol 4,5-Diphosphate - metabolism | Transfection | Hedgehog Proteins - genetics | Time Factors | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Retina - enzymology | Kidney Diseases, Cystic - genetics | Cilia - enzymology | Embryo, Mammalian - enzymology | Abnormalities, Multiple - genetics | Kidney Diseases, Cystic - enzymology | Second Messenger Systems | Disease Models, Animal | Cell Line | Genetic Predisposition to Disease | Phosphoric Monoester Hydrolases - genetics | Mice, Inbred C57BL | Retinal Pigment Epithelium - enzymology | Eye Abnormalities - genetics | Mice, Knockout | Phenotype | Animals | Retina - abnormalities | Abnormalities, Multiple - enzymology | Phosphoric Monoester Hydrolases - metabolism | Kruppel-Like Transcription Factors - genetics | Physiological aspects | Phosphoinositides | Cell research | Research | Cilia and ciliary motion | Cellular control mechanisms
Journal Article
Human Mutation, ISSN 1059-7794, 11/2012, Volume 33, Issue 11, pp. 1520 - 1525
Genitopatellar syndrome (GPS) and Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct... 
MYST4 | database | genitopatellar syndrome | KAT6B | Ohdo syndrome | Database | Genitopatellar syndrome | BLEPHAROPHIMOSIS | PROTEIN | MENTAL-RETARDATION | ANOMALIES | PHENOTYPE | ACUTE MYELOID-LEUKEMIA | HISTONE ACETYLTRANSFERASE | MORF | GENETICS & HEREDITY | OHDO-SYNDROME | QUERKOPF | Abnormalities, Multiple - pathology | Sequence Deletion | Scrotum - abnormalities | Kidney - pathology | Blepharoptosis - genetics | Histone Acetyltransferases - chemistry | Blepharophimosis - enzymology | Humans | Kidney - enzymology | Psychomotor Disorders - enzymology | Urogenital Abnormalities - enzymology | Histone Acetyltransferases - genetics | Molecular Sequence Data | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Base Sequence | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Patella - abnormalities | Intellectual Disability - enzymology | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Patella - enzymology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Scrotum - enzymology | Genetic Association Studies | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Haploinsufficiency | Patella - pathology | DNA - genetics | Urogenital Abnormalities - pathology | Kidney - abnormalities | Craniofacial Abnormalities - enzymology | Abnormalities, Multiple - enzymology | Mutation | Blepharoptosis - pathology | Databases, Nucleic Acid | Urogenital Abnormalities - genetics | Histones | Medical colleges | Congenital heart disease | Genetic disorders | Kidney diseases | Genes | Ohdo Syndrome | mutation database
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2009, Volume 41, Issue 8, pp. 891 - 898
Although DNA damage is considered a driving force for aging, the nature of the damage that arises endogenously remains unclear. Replicative stress, a source of... 
CHROMOSOME INSTABILITY | GENE ATR | DNA-DAMAGE RESPONSE | HEMATOPOIETIC STEM-CELLS | GENETICS & HEREDITY | LEADS | CHECKPOINT | DEFICIENT MICE | ATAXIA-TELANGIECTASIA | AGE | P53 | Abnormalities, Multiple - pathology | Embryo, Mammalian - drug effects | Protein-Serine-Threonine Kinases - deficiency | Fibroblasts - enzymology | Apoptosis - drug effects | DNA Replication - drug effects | Humans | Aging - drug effects | Brain - enzymology | Embryo, Mammalian - metabolism | DNA-Binding Proteins - metabolism | Aging - genetics | Progeria - embryology | DNA-Activated Protein Kinase - metabolism | Progeria - pathology | Embryo, Mammalian - enzymology | Stress, Physiological - drug effects | Abnormalities, Multiple - genetics | Protein-Serine-Threonine Kinases - metabolism | Disease Models, Animal | DNA Repair - drug effects | Embryo, Mammalian - pathology | Progeria - enzymology | Cell Cycle Proteins - metabolism | Tumor Suppressor Protein p53 - metabolism | Nuclear Proteins - metabolism | Ataxia Telangiectasia Mutated Proteins | Fibroblasts - pathology | Tumor Suppressor Protein p53 - deficiency | Syndrome | Aging - pathology | Phenotype | Animals | Fibroblasts - drug effects | Alleles | Abnormalities, Multiple - enzymology | Brain - pathology | Mice | Protein Kinase Inhibitors - pharmacology | DNA Damage | Embryonic development | Usage | Control | Animal models in research | DNA damage | Causes of | Physiological aspects | Genetic aspects | Research | Proteins | Dwarfism | Studies | Genotype & phenotype | Cell cycle | Kinases | Molecular biology | Cancer
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2016, Volume 113, Issue 16, pp. 4314 - 4319
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 792 - 797
Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, α-ketoglutarate, and branched... 
SYNTHASE | RESPIRATORY-CHAIN | PROTEIN | GENE | CLONING | BIOSYNTHESIS | ENZYMES | ESCHERICHIA-COLI | GENETICS & HEREDITY | MUTATIONS | PYRUVATE-DEHYDROGENASE COMPLEX | Mitochondria - enzymology | Acidosis, Lactic - genetics | Glycine - urine | Humans | Molecular Sequence Data | Male | Mutation, Missense | Pyruvate Dehydrogenase Complex - genetics | Base Sequence | Fatal Outcome | Epilepsy - genetics | Infant, Newborn, Diseases - genetics | Escherichia coli - growth & development | Energy Metabolism - genetics | Abnormalities, Multiple - genetics | Infant, Newborn | Fibroblasts - metabolism | Epilepsy - enzymology | Pyruvate Dehydrogenase Complex - metabolism | Amino Acid Sequence | Glycine - blood | Gene Expression | Muscle, Skeletal - enzymology | Muscle Hypotonia - genetics | Infant, Newborn, Diseases - diagnosis | Mitochondria - metabolism | Sequence Analysis, DNA | Chromosomes, Human, Pair 4 | Infant, Newborn, Diseases - enzymology | Epilepsy - diagnosis | Homozygote | Escherichia coli - genetics | Abnormalities, Multiple - diagnosis | Sulfurtransferases - deficiency | Abnormalities, Multiple - enzymology | Consanguinity | Energy metabolism | Mitochondria | Bioenergetics | Gene mutations | Epilepsy in children | Physiological aspects | Causes of | Genetic aspects | Research | Urine | Enzymes | Lipoic acid | Epilepsy | Pyruvate dehydrogenase (lipoamide) | Amino acids | Pyruvic acid | Glycine | Prosthetic groups | Decarboxylation | Oxidation | Mutation | Lactic acidosis | Report
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2012, Volume 44, Issue 10, pp. 1080 - 1083
Journal Article