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The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | Congenital ataxia | Hypomorphic variants | Developmental defects | Ciliopathies | Polymicrogyria | Molar tooth sign | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing
Journal Article
Scientific reports, ISSN 2045-2322, 2017, Volume 7, Issue 1, pp. 7519 - 12
In silico network-based methods have shown promising results in the field of drug development. Yet, most of networks used in the previous research have not... 
SYSTEM | DATABASE | RENIN | GENE | PATHWAY | MULTIDISCIPLINARY SCIENCES | TISSUE | KEGG | NEBIVOLOL | HYPERTENSION | BLOOD-PRESSURE | Hematologic Diseases - pathology | Liver - pathology | Metabolic Diseases - pathology | Respiratory Tract Diseases - metabolism | Kidney - pathology | Skin - metabolism | Hematologic Diseases - metabolism | Humans | Muscle, Skeletal - metabolism | Respiratory Tract Diseases - drug therapy | Respiratory Tract Diseases - genetics | Brain - metabolism | Musculoskeletal Diseases - pathology | Kidney - metabolism | Liver - drug effects | Muscle, Skeletal - drug effects | Myocardium - metabolism | Nervous System Diseases - metabolism | Nutrition Disorders - pathology | Computational Biology - methods | Kidney - drug effects | Liver - metabolism | Nervous System Diseases - drug therapy | Connective Tissue Diseases - metabolism | Neoplasms - drug therapy | Brain - drug effects | Connective Tissue Diseases - drug therapy | Connective Tissue Diseases - pathology | Lung - drug effects | Brain - pathology | Hematologic Diseases - genetics | Prescription Drugs - pharmacokinetics | Digestive System Diseases - pathology | Neoplasms - metabolism | Cardiovascular Diseases - drug therapy | Drugs, Investigational - pharmacokinetics | Respiratory Tract Diseases - pathology | Hematologic Diseases - drug therapy | Metabolic Diseases - drug therapy | Cardiovascular Diseases - pathology | Nervous System Diseases - genetics | Cardiovascular Diseases - genetics | Musculoskeletal Diseases - genetics | Neoplasms - genetics | Lung - metabolism | Skin - pathology | Nervous System Diseases - pathology | Lung - pathology | Musculoskeletal Diseases - drug therapy | Cardiovascular Diseases - metabolism | Musculoskeletal Diseases - metabolism | Nutrition Disorders - drug therapy | Nutrition Disorders - genetics | Myocardium - pathology | Organ Specificity | Digestive System Diseases - genetics | Algorithms | Digestive System Diseases - drug therapy | Nutrition Disorders - metabolism | Metabolic Diseases - metabolism | Digestive System Diseases - metabolism | Metabolic Diseases - genetics | Connective Tissue Diseases - genetics | Muscle, Skeletal - pathology | Neoplasms - pathology | Skin - drug effects | Drug development
Journal Article
Book
European heart journal, ISSN 1522-9645, 2014, Volume 35, Issue 23, pp. 1515 - 1525
...; VCs are also typical in senile degeneration. In this article, we review the current state of knowledge about the pathology, molecular biology, and nosology of VCm... 
Vascular molecular biology and genetics | CALCIUM-PHOSPHATE DEPOSITION | ATHEROSCLEROTIC LESIONS | FETUIN-A LEVELS | NONINVASIVE EVALUATION | CARDIAC & CARDIOVASCULAR SYSTEMS | PSEUDOXANTHOMA ELASTICUM | EXTRACELLULAR CALCIUM | MONCKEBERGS SCLEROSIS | Vascular function | ARTERY CALCIFICATION | SMOOTH-MUSCLE-CELLS | CHRONIC KIDNEY-DISEASE | Vascular calcifications | Monckeberg's media sclerosis | Tunica Media - pathology | Prognosis | Monckeberg Medial Calcific Sclerosis - physiopathology | Humans | Tunica Intima - physiopathology | Male | Monckeberg Medial Calcific Sclerosis - therapy | Diabetic Angiopathies - physiopathology | Monckeberg Medial Calcific Sclerosis - pathology | Diabetic Angiopathies - pathology | Vascular Calcification - physiopathology | Adult | Female | Biomarkers - metabolism | Arteriosclerosis - physiopathology | Terminology as Topic | Vascular Calcification - pathology | Phosphates - physiology | Renal Insufficiency, Chronic - physiopathology | Diabetes Mellitus, Type 2 - physiopathology | Tunica Intima - pathology | Calcium-Binding Proteins - physiology | Diabetes Mellitus, Type 2 - pathology | Vascular Calcification - therapy | Hyperphosphatemia - physiopathology | Tunica Media - physiopathology | Arteriosclerosis - pathology | Index Medicus | Life Sciences | Human health and pathology | Cardiology and cardiovascular system | Mönckeberg's media sclerosis | Reviews
Journal Article
PloS one, ISSN 1932-6203, 2016, Volume 11, Issue 3, p. e0150606
Flow cytometry is used extensively to examine immune cells in non-lymphoid tissues. However, a method of flow cytometric analysis that is both comprehensive... 
LUNG | INTERLEUKIN-4 | DENDRITIC CELLS | MANNOSE RECEPTOR | MULTIDISCIPLINARY SCIENCES | SURFACE GLYCOPROTEIN | SUBSETS | BLOOD MONOCYTES | EXPRESSION | EXUDATE MACROPHAGES | LANGERHANS CELLS | Inflammation - pathology | Mast Cells - immunology | Flow Cytometry - methods | Macrophages - pathology | Dendritic Cells - immunology | Neutrophils - immunology | Dendritic Cells - pathology | Inflammation - immunology | Killer Cells, Natural - pathology | Cell Separation - methods | Eosinophils - immunology | Animals | B-Lymphocytes - immunology | Basophils - pathology | Mast Cells - pathology | Basophils - immunology | Killer Cells, Natural - immunology | T-Lymphocytes - immunology | Eosinophils - pathology | Mice | B-Lymphocytes - pathology | T-Lymphocytes - pathology | Macrophages - immunology | Neutrophils - pathology | Antigen presenting cells | Skin | Metastasis | Lymphocytes | Analysis | Cell culture | Flow cytometry | Animal models | Pneumonia | Laboratories | Syngeneic grafts | Liver | Critical care | Lymphocytes T | Macrophages | Tissues | Metastases | Immunology | Granulocytes | Intestine | Mammary gland | Alveoli | Cardiology | Gating | Immune system | CD11b antigen | Immune response | Kidneys | Dendritic cells | Leukocytes (eosinophilic) | Neutrophils | Leukocytes (neutrophilic) | T cell receptors | Inflammation | Lymphoid tissue | Tumor cell lines | Flow | Medicine | Cytometry | Lymphocytes B | Lungs | Influenza | Phenotyping | Leukocytes (basophilic) | Tumors | Apoptosis | Eosinophils
Journal Article
The lancet oncology, ISSN 1470-2045, 2008, Volume 9, Issue 5, pp. 462 - 472
Summary As the molecular basis of disease continues to be elucidated, familial cancer syndromes, which consist of a range of neoplastic and non-neoplastic... 
Hematology, Oncology and Palliative Medicine | COWDEN-SYNDROME | CELL CARCINOMA SYNDROME | GENOTYPE-PHENOTYPE CORRELATIONS | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | MUIR-TORRE-SYNDROME | TUBEROUS-SCLEROSIS-COMPLEX | PEUTZ-JEGHERS-SYNDROME | HOGG-DUBE-SYNDROME | MULTIPLE ENDOCRINE NEOPLASIA | GORLIN-SYNDROME | Colonic Neoplasms - genetics | Kidney Neoplasms - genetics | Neoplastic Syndromes, Hereditary - pathology | Endocrine Gland Neoplasms - genetics | Genetic Testing | Peutz-Jeghers Syndrome - pathology | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Gene Expression Regulation, Neoplastic | Multiple Endocrine Neoplasia Type 2a - pathology | Adenomatous Polyposis Coli - pathology | Multiple Endocrine Neoplasia Type 2b - pathology | Tuberous Sclerosis - pathology | Basal Cell Nevus Syndrome - pathology | Leiomyomatosis - pathology | Neoplastic Syndromes, Hereditary - genetics | Skin - pathology | Skin Neoplasms - pathology | Hamartoma Syndrome, Multiple - pathology | Carcinoma, Renal Cell - pathology | Disease Progression | Neurofibromatosis 2 - pathology | Neurofibromatosis 1 - pathology | Endocrine Gland Neoplasms - pathology | Pedigree | Colonic Neoplasms - pathology | Skin Neoplasms - genetics | Kidney Neoplasms - pathology | Mutation | Multiple Endocrine Neoplasia - pathology | Genetic aspects | Skin | Colon cancer
Journal Article
Human Pathology, ISSN 0046-8177, 2015, Volume 49, pp. 27 - 32
Summary Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100 nuclear DNA and... 
Pathology | Metabolic disease | Lethal neonatal lactic acidosis | Whole-exome sequencing | Mitochondriopathy | Complex I deficiency | ACAD9 defect | Mitochondrial hyperplasia | Multiorgan failure | DIAGNOSIS | CARDIOMYOPATHY | PATHOLOGY | GENE | DNA | EXPRESSION | Immunohistochemistry | Fibroblasts - enzymology | Diaphragm - pathology | Mitochondria, Heart - pathology | Electron Transport Complex I - deficiency | Humans | Hyperplasia | Male | Cardiomyopathy, Hypertrophic - enzymology | Acyl-CoA Dehydrogenases - genetics | Leigh Disease - pathology | Muscle Weakness - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Autopsy | DNA Mutational Analysis | Electron Transport Complex I - genetics | Fatal Outcome | Muscle Weakness - pathology | Acyl-CoA Dehydrogenases - deficiency | Amino Acid Metabolism, Inborn Errors - pathology | Kidney Tubules - pathology | Infant, Newborn | Multiple Organ Failure - pathology | Acyl-CoA Dehydrogenase - genetics | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Mitochondria, Liver - pathology | Mitochondria, Heart - enzymology | Fibroblasts - pathology | Leigh Disease - genetics | Acidosis, Lactic - pathology | Cardiomyopathy, Hypertrophic - diagnosis | Mitochondrial Diseases - enzymology | Phenotype | Acyl-CoA Dehydrogenase - deficiency | Kidney Tubules - enzymology | Acidosis - diagnosis | Multiple Organ Failure - enzymology | Acidosis - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Mitochondrial Diseases - pathology | Muscle Weakness - diagnosis | Acidosis, Lactic - genetics | Cause of Death | Acidosis, Lactic - enzymology | Amino Acid Metabolism, Inborn Errors - diagnosis | DNA, Mitochondrial - genetics | Muscle Weakness - enzymology | Transfection | Mitochondrial Diseases - genetics | Mitochondria, Muscle - enzymology | Mitochondria, Muscle - pathology | Leigh Disease - enzymology | Cells, Cultured | Multiple Organ Failure - genetics | Codon, Nonsense | Mitochondria, Liver - enzymology | Multiple Organ Failure - diagnosis | Diaphragm - enzymology | Acidosis - pathology | Leigh Disease - diagnosis | Acidosis - enzymology | Mitochondrial Diseases - diagnosis | Acidosis, Lactic - diagnosis | Cardiomyopathy, Hypertrophic - pathology | Infants (Newborn) | Muscles | Genetic aspects | Mitochondrial DNA | Liver | Heart | Urine | Cytochrome | Antigens | Enzymes | Cytomegalovirus | Cardiomyopathy | Defects | Musculoskeletal system | Databases | Rodents | Fibroblasts | Oxidation | Mutation | Metabolic disorders | Deoxyribonucleic acid--DNA
Journal Article
Journal Article
American Journal of Pathology, ISSN 0002-9440, 11/2013, Volume 183, Issue 5, pp. 1364 - 1374
Journal Article