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The New England Journal of Medicine, ISSN 0028-4793, 12/2011, Volume 365, Issue 25, pp. 2377 - 2388
The authors report that INF2 mutations are present in patients with focal segmental glomerulosclerosis (FSGS) associated with Charcot–Marie–Tooth neuropathy.... 
GLOMERULOSCLEROSIS | MEDICINE, GENERAL & INTERNAL | MYELIN | PROTEIN | NEUROPATHY | EPITHELIAL-CELLS | GENE | RHO | MEDIATED TRANSPORT | FORMIN | NEPHROPATHY | Humans | Middle Aged | Proteolipids - metabolism | Actins - metabolism | Male | Charcot-Marie-Tooth Disease - genetics | Young Adult | Kidney - metabolism | Glomerulosclerosis, Focal Segmental - etiology | Myelin and Lymphocyte-Associated Proteolipid Proteins | Adult | Female | Membrane Transport Proteins - metabolism | Microfilament Proteins - metabolism | Child | Microfilament Proteins - genetics | Charcot-Marie-Tooth Disease - complications | Schwann Cells - metabolism | Phenotype | Animals | Adolescent | Age of Onset | Heterozygote | Mice | Mutation | Myelin Proteins - metabolism | Glomerulonephritis | Gene mutations | Charcot-Marie-Tooth disease | Causes of | Genetic aspects | Research | Myelin proteins | Cdc42 protein | Disease | Exons | Genes | Amino acids | Nervous system | Neuropathy | Guanine nucleotide-binding protein | Proteins | Myelin P0 protein | Localization | Peripheral myelin protein 22 | Deoxyribonucleic acid--DNA | Kidneys | Schwann cells | Polymerization | Myelination | Genotyping | Biopsy | Glomerulus | Cytoskeleton | Genetic testing | Cytoplasm | Guanosinetriphosphatase | Schwann Cells | Genomics | Kidney | Charcot-Marie-Tooth Disease | Life Sciences | Proteolipids | Biochemistry, Molecular Biology | Actins | Microfilament Proteins | Membrane Transport Proteins | Myelin Proteins | Glomerulosclerosis, Focal Segmental
Journal Article
Nature Communications, ISSN 2041-1723, 06/2017, Volume 8, Issue 1, p. 15824
Across a variety of Mendelian disorders, similar to 50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing... 
PERRAULT SYNDROME | COMPLEX | SNP | METABOLISM | RANDOM MONOALLELIC EXPRESSION | ORNITHINE | MULTIDISCIPLINARY SCIENCES | DOMINANT | MUTATIONS | ASSOCIATION | TOOL
Journal Article
Journal Article
Acta Paediatrica, ISSN 0803-5253, 12/2019
Journal Article
Respiratory Medicine, ISSN 0954-6111, 2017, Volume 129, pp. 16 - 23
Abstract We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated... 
Pulmonary/Respiratory | NKX2-1 | Treatment | Prognosis | Surfactant | Interstitial lung disease | Steroids | CARDIAC & CARDIOVASCULAR SYSTEMS | BENIGN HEREDITARY CHOREA | FOLLOW-UP | NKX2-1 MUTATIONS | PROTEIN-C | PHENOTYPIC SPECTRUM | GENE | RESPIRATORY SYSTEM | CONGENITAL HYPOTHYROIDISM | TRANSCRIPTION FACTOR-I | THYROID SYNDROME | RESPIRATORY-FAILURE | Respiratory Distress Syndrome, Newborn - complications | Humans | Athetosis - genetics | Male | Pulmonary Surfactants - metabolism | Respiratory Distress Syndrome, Newborn - pathology | Tomography, X-Ray Computed | Lung Diseases - therapy | Pulmonary Surfactant-Associated Protein B - genetics | Lung Diseases, Interstitial - diagnostic imaging | Lung Diseases, Interstitial - therapy | Chorea - complications | Respiratory Distress Syndrome, Newborn - etiology | Pulmonary Alveolar Proteinosis - genetics | Congenital Hypothyroidism - genetics | Respiratory Distress Syndrome, Newborn - genetics | Adult | Female | Thyroid Nuclear Factor 1 - genetics | Retrospective Studies | Lung Diseases, Interstitial - physiopathology | Child | Genes, Homeobox | France - epidemiology | Pulmonary Surfactant-Associated Protein B - deficiency | Respiratory Function Tests - methods | Treatment Outcome | Lung Diseases, Interstitial - complications | Chorea - pathology | Pulmonary Alveolar Proteinosis - complications | Lung Diseases - genetics | Lung Diseases, Interstitial - genetics | Athetosis - complications | Adolescent | Congenital Hypothyroidism - pathology | Lung Diseases - complications | Bronchoalveolar Lavage Fluid - chemistry | Lung Diseases - pathology | Mutation | Chorea - genetics | Athetosis - pathology | Congenital Hypothyroidism - complications | Analysis | Lung diseases | Therapeutics | Genetic research | Transplantation of organs, tissues, etc | Pulmonary function tests | Genetic aspects | Homeopathy | Materia medica and therapeutics | Development and progression | Hypothyroidism | Neonates | Brain | Respiratory function | Transcription factors | Intelligence | Syngeneic grafts | Lung transplantation | Medical services | Azithromycin | Families & family life | Transplantation | Thyroid gland | Homeobox | Proteins | Heterogeneity | Genetic analysis | Xenografts | Diagnosis | Children | Deoxyribonucleic acid--DNA | Thyroid | Surfactants | Patients | Hydroxychloroquine | Pulmonary fibrosis | Respiratory distress syndrome | Steroid hormones
Journal Article
Neurology, ISSN 0028-3878, 2018, Volume 90
Objective: Refine estimation of penetrance in TTR-FAP families, unravelling the role of covariates. Background: TTR-FAP is an autosomal dominant neuropathy... 
Clinical Medicine | Neurology | Neurologi | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin
Journal Article
Breast Cancer Research and Treatment, ISSN 0167-6806, 7/2012, Volume 134, Issue 1, pp. 31 - 40
Most of the antiangiogenic strategies used in oncology principally target endothelial cells through the vascular endothelial growth factor (VEGF) pathway.... 
Angiogenesis | Medicine & Public Health | Fingolimod | Breast tumor | Sunitinib malate | Oncology | VSMC | Chemotaxis | PROTEIN-KINASE | SPHINGOSINE-1-PHOSPHATE RECEPTOR-2 | FACTOR-INDUCED MOTILITY | VASCULAR SMOOTH-MUSCLE | SPHINGOSINE 1-PHOSPHATE | INHIBITION | ONCOLOGY | FTY720 | ENDOTHELIAL-CELLS | GROWTH | Neoplasm Transplantation | Carcinoma 256, Walker - blood supply | Male | Indoles - administration & dosage | Proto-Oncogene Proteins c-sis - physiology | Antineoplastic Combined Chemotherapy Protocols - pharmacology | Receptor, Platelet-Derived Growth Factor beta - antagonists & inhibitors | Sphingosine - administration & dosage | Carcinoma 256, Walker - pathology | Pyrroles - administration & dosage | Mammary Neoplasms, Experimental - pathology | Statistics, Nonparametric | Female | Mammary Neoplasms, Experimental - blood supply | Myocytes, Smooth Muscle - drug effects | Proto-Oncogene Proteins c-sis - pharmacology | Receptors, Lysosphingolipid - metabolism | Myocytes, Smooth Muscle - metabolism | Aorta, Thoracic - pathology | Mammary Neoplasms, Experimental - drug therapy | Receptor, Platelet-Derived Growth Factor beta - metabolism | Cells, Cultured | Myocytes, Smooth Muscle - physiology | Fingolimod Hydrochloride | Rats | Receptors, Lysosphingolipid - physiology | Tyrphostins - pharmacology | Rats, Sprague-Dawley | Drug Synergism | Sphingosine - analogs & derivatives | Animals | Carcinoma 256, Walker - drug therapy | Tumor Burden - drug effects | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Propylene Glycols - administration & dosage | Cell Movement | Drug Screening Assays, Antitumor | Phosphates | Chemotherapy | Platelet-derived growth factor | Sphingosine | Breast cancer | Angiogenesis inhibitors | Vascular endothelial growth factor | Cancer | Index Medicus | Life Sciences | Neurons and Cognition | Biochemistry, Molecular Biology | Genomics | Neurobiology | Genetics | Molecular biology | Human genetics
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