Histology and Histopathology, ISSN 0213-3911, 11/2014, Volume 29, Issue 11, pp. 1455 - 1466
Molecular and genetic investigations in endometrial carcinogenesis may have prognostic and therapeutic implications. We studied the expression of EGFR, c-Met,...
mTOR pathway | PTEN | Endometrial cancer | EGFR | C-Met | TARGET | DIAGNOSIS | HEPATOCYTE GROWTH-FACTOR | PATHOLOGY | CANCER | P53 | CELL BIOLOGY | AMPLIFICATION | MOLECULAR PATHOLOGY | c-Met | KRAS | Immunohistochemistry | Receptor, Epidermal Growth Factor - genetics | Microsatellite Instability | Humans | Middle Aged | Endometrial Neoplasms - metabolism | Gene Expression Regulation, Neoplastic | Ki-67 Antigen - metabolism | Gene Expression Profiling | TOR Serine-Threonine Kinases - genetics | Endometrial Neoplasms - genetics | DNA Mutational Analysis | Aged, 80 and over | Adult | Female | Retrospective Studies | PTEN Phosphohydrolase - genetics | Microsatellite Repeats - genetics | Proto-Oncogene Proteins c-met - genetics | Phosphatidylinositol 3-Kinases - genetics | Class I Phosphatidylinositol 3-Kinases | Carcinoma - genetics | Ligands | Aged | Carcinoma - metabolism | Mutation | Genes, ras
mTOR pathway | PTEN | Endometrial cancer | EGFR | C-Met | TARGET | DIAGNOSIS | HEPATOCYTE GROWTH-FACTOR | PATHOLOGY | CANCER | P53 | CELL BIOLOGY | AMPLIFICATION | MOLECULAR PATHOLOGY | c-Met | KRAS | Immunohistochemistry | Receptor, Epidermal Growth Factor - genetics | Microsatellite Instability | Humans | Middle Aged | Endometrial Neoplasms - metabolism | Gene Expression Regulation, Neoplastic | Ki-67 Antigen - metabolism | Gene Expression Profiling | TOR Serine-Threonine Kinases - genetics | Endometrial Neoplasms - genetics | DNA Mutational Analysis | Aged, 80 and over | Adult | Female | Retrospective Studies | PTEN Phosphohydrolase - genetics | Microsatellite Repeats - genetics | Proto-Oncogene Proteins c-met - genetics | Phosphatidylinositol 3-Kinases - genetics | Class I Phosphatidylinositol 3-Kinases | Carcinoma - genetics | Ligands | Aged | Carcinoma - metabolism | Mutation | Genes, ras
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 12/2018, Volume 379, Issue 23, pp. 2209 - 2219
In this study, a gain-of-function variant in the promoter of MUC5B that was previously found to be associated with idiopathic pulmonary fibrosis was associated...
MORTALITY | CRITERIA | MEDICINE, GENERAL & INTERNAL | PREDICTORS | SUSCEPTIBILITY | CLASSIFICATION | COHORT | POLYMORPHISM | IDIOPATHIC PULMONARY-FIBROSIS | PNEUMONIA | ASSOCIATION | Promoter Regions, Genetic | Genetic Predisposition to Disease | Idiopathic Pulmonary Fibrosis - genetics | Lung - pathology | Mucin-5B - genetics | Humans | Middle Aged | Lung - chemistry | Genotype | Male | Mucin-5B - analysis | Lung Diseases, Interstitial - complications | Arthritis, Rheumatoid - complications | Arthritis, Rheumatoid - genetics | Lung Diseases, Interstitial - genetics | Female | Aged | Gain of Function Mutation | Odds Ratio | Genetic aspects | Pulmonary fibrosis | Diagnosis | Research | Rheumatoid arthritis | Consortia | Pneumonia | Computed tomography | Lung diseases | Rheumatology | Fibrosis | Population | Health risk assessment | Population genetics
MORTALITY | CRITERIA | MEDICINE, GENERAL & INTERNAL | PREDICTORS | SUSCEPTIBILITY | CLASSIFICATION | COHORT | POLYMORPHISM | IDIOPATHIC PULMONARY-FIBROSIS | PNEUMONIA | ASSOCIATION | Promoter Regions, Genetic | Genetic Predisposition to Disease | Idiopathic Pulmonary Fibrosis - genetics | Lung - pathology | Mucin-5B - genetics | Humans | Middle Aged | Lung - chemistry | Genotype | Male | Mucin-5B - analysis | Lung Diseases, Interstitial - complications | Arthritis, Rheumatoid - complications | Arthritis, Rheumatoid - genetics | Lung Diseases, Interstitial - genetics | Female | Aged | Gain of Function Mutation | Odds Ratio | Genetic aspects | Pulmonary fibrosis | Diagnosis | Research | Rheumatoid arthritis | Consortia | Pneumonia | Computed tomography | Lung diseases | Rheumatology | Fibrosis | Population | Health risk assessment | Population genetics
Journal Article
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, ISSN 1073-449X, 07/2019, Volume 200, Issue 2, pp. 199 - 208
Rationale: Several common and rare genetic variants have been associated with idiopathic pulmonary fibrosis, a progressive fibrotic condition that is localized...
rare variants | MUC5B PROMOTER POLYMORPHISM | disease risk alleles | SUSCEPTIBILITY | LOCI | idiopathic pulmonary fibrosis | targeted resequencing | GENOME | genetic variants | RESPIRATORY SYSTEM | DISEASE | MUTATIONS | ASSOCIATION | EXPRESSION | CRITICAL CARE MEDICINE | Senescence | Genealogy | Lung diseases | Genomics | Genomes | Family medical history | Medicine | Studies | Hospitals | Pulmonary fibrosis | Gene loci | Mutation | University colleges
rare variants | MUC5B PROMOTER POLYMORPHISM | disease risk alleles | SUSCEPTIBILITY | LOCI | idiopathic pulmonary fibrosis | targeted resequencing | GENOME | genetic variants | RESPIRATORY SYSTEM | DISEASE | MUTATIONS | ASSOCIATION | EXPRESSION | CRITICAL CARE MEDICINE | Senescence | Genealogy | Lung diseases | Genomics | Genomes | Family medical history | Medicine | Studies | Hospitals | Pulmonary fibrosis | Gene loci | Mutation | University colleges
Journal Article
4.
Full Text
Interplatform reproducibility of liver and spleen stiffness measured with MR elastography
Journal of Magnetic Resonance Imaging, ISSN 1053-1807, 05/2016, Volume 43, Issue 5, pp. 1064 - 1072
Purpose To assess interplatform reproducibility of liver stiffness (LS) and spleen stiffness (SS) measured with magnetic resonance elastography (MRE) based on...
liver stiffness | spleen stiffness | interplatform MRE | magnetic resonance elastography | Liver - pathology | Reproducibility of Results | Spleen - diagnostic imaging | Prospective Studies | Humans | Middle Aged | Liver Diseases - pathology | Male | Healthy Volunteers | Young Adult | Magnetic Resonance Imaging | Liver Cirrhosis - diagnostic imaging | Liver - diagnostic imaging | Liver Cirrhosis - pathology | Adult | Female | Hepatitis C - diagnostic imaging | Hepatitis C - pathology | Hypertension, Portal | Phantoms, Imaging | Spleen - pathology | Elasticity Imaging Techniques | Observer Variation | Measurement | Liver diseases | Liver | Health insurance industry | Spleen | Health Insurance Portability & Accountability Act 1996-US
liver stiffness | spleen stiffness | interplatform MRE | magnetic resonance elastography | Liver - pathology | Reproducibility of Results | Spleen - diagnostic imaging | Prospective Studies | Humans | Middle Aged | Liver Diseases - pathology | Male | Healthy Volunteers | Young Adult | Magnetic Resonance Imaging | Liver Cirrhosis - diagnostic imaging | Liver - diagnostic imaging | Liver Cirrhosis - pathology | Adult | Female | Hepatitis C - diagnostic imaging | Hepatitis C - pathology | Hypertension, Portal | Phantoms, Imaging | Spleen - pathology | Elasticity Imaging Techniques | Observer Variation | Measurement | Liver diseases | Liver | Health insurance industry | Spleen | Health Insurance Portability & Accountability Act 1996-US
Journal Article
5.
Full Text
Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2019, Volume 143, Issue 4, pp. 1646 - 1649.e10
[...]the (genetic) diagnostic delay was long for many patients (see below). [...]we looked at whether the patients' region of residence within France (which...
ALLERGY | IMMUNOLOGY | INBORN-ERRORS | Multiple births | Immunoglobulins | Disease | Genomics | Overseas | Identification | Genomes | Medical screening | Embryos | Patients | Genetic screening | Gene sequencing | Next-generation sequencing | Genetic counseling | Immunology | Diagnostic systems | Mutation | Diagnosis | Life Sciences | Biomolecules | Biochemistry, Molecular Biology
ALLERGY | IMMUNOLOGY | INBORN-ERRORS | Multiple births | Immunoglobulins | Disease | Genomics | Overseas | Identification | Genomes | Medical screening | Embryos | Patients | Genetic screening | Gene sequencing | Next-generation sequencing | Genetic counseling | Immunology | Diagnostic systems | Mutation | Diagnosis | Life Sciences | Biomolecules | Biochemistry, Molecular Biology
Journal Article
EUROPEAN RESPIRATORY REVIEW, ISSN 0905-9180, 09/2019, Volume 28, Issue 153, p. 190053
Interstitial lung diseases (ILDs) are a set of heterogeneous lung diseases characterised by inflammation and, in some cases, fibrosis. These lung conditions...
MUC5B PROMOTER POLYMORPHISM | SURFACTANT PROTEIN-C | OBSERVATIONAL COHORT | RESPIRATORY SYSTEM | DYSKERATOSIS-CONGENITA | MUTATIONS | IDIOPATHIC PULMONARY-FIBROSIS | CLINICAL-COURSE | BONE-MARROW FAILURE | GENOME-WIDE ASSOCIATION | TELOMERE LENGTH
MUC5B PROMOTER POLYMORPHISM | SURFACTANT PROTEIN-C | OBSERVATIONAL COHORT | RESPIRATORY SYSTEM | DYSKERATOSIS-CONGENITA | MUTATIONS | IDIOPATHIC PULMONARY-FIBROSIS | CLINICAL-COURSE | BONE-MARROW FAILURE | GENOME-WIDE ASSOCIATION | TELOMERE LENGTH
Journal Article
European Radiology, ISSN 0938-7994, 10/2017, Volume 27, Issue 10, pp. 4120 - 4128
To compare spin-echo echoplanar imaging (SE-EPI) and gradient recalled echo (GRE) MR elastography (MRE) at 3 T with and without gadoxetic acid...
Magnetic resonance elastography | Medicine & Public Health | Diagnostic Radiology | Internal Medicine | Spin echo | Gradient recalled echo | Interventional Radiology | Liver fibrosis | Gadoxetic acid | Imaging / Radiology | Ultrasound | Neuroradiology | CIRRHOSIS | PERFORMANCE | CHRONIC HEPATITIS-C | MAGNETIC-RESONANCE ELASTOGRAPHY | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | FAT QUANTIFICATION | ESOPHAGEAL-VARICES | Reproducibility of Results | Risk Assessment | Humans | Middle Aged | Magnetic Resonance Imaging - methods | Male | Echo-Planar Imaging - methods | Elasticity Imaging Techniques - methods | Contrast Media | Liver Cirrhosis - diagnostic imaging | Liver - diagnostic imaging | Aged, 80 and over | Adult | Female | ROC Curve | Aged | Endoscopy, Digestive System | Esophageal and Gastric Varices - diagnosis | Gadolinium DTPA | Comparative analysis | Liver cirrhosis | Liver | Failure rates | Cirrhosis | Acids | Risk groups | Performance prediction | Iron | Stiffness | Diagnostic systems | Patients | Esophagus
Magnetic resonance elastography | Medicine & Public Health | Diagnostic Radiology | Internal Medicine | Spin echo | Gradient recalled echo | Interventional Radiology | Liver fibrosis | Gadoxetic acid | Imaging / Radiology | Ultrasound | Neuroradiology | CIRRHOSIS | PERFORMANCE | CHRONIC HEPATITIS-C | MAGNETIC-RESONANCE ELASTOGRAPHY | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | FAT QUANTIFICATION | ESOPHAGEAL-VARICES | Reproducibility of Results | Risk Assessment | Humans | Middle Aged | Magnetic Resonance Imaging - methods | Male | Echo-Planar Imaging - methods | Elasticity Imaging Techniques - methods | Contrast Media | Liver Cirrhosis - diagnostic imaging | Liver - diagnostic imaging | Aged, 80 and over | Adult | Female | ROC Curve | Aged | Endoscopy, Digestive System | Esophageal and Gastric Varices - diagnosis | Gadolinium DTPA | Comparative analysis | Liver cirrhosis | Liver | Failure rates | Cirrhosis | Acids | Risk groups | Performance prediction | Iron | Stiffness | Diagnostic systems | Patients | Esophagus
Journal Article
Current Opinion in Pulmonary Medicine, ISSN 1070-5287, 09/2012, Volume 18, Issue 5, pp. 455 - 461
PURPOSE OF REVIEWFamilial pulmonary fibrosis has long been recognized and suggests that pulmonary fibrosis may have a genetic origin in some cases with an...
telomerase | telomerase reverse transcriptase | MUC5B | ATP-binding cassette 3 | surfactant | SURFACTANT PROTEIN-C | ABCA3 MUTATIONS | TELOMERASE MUTATIONS | ENDOPLASMIC-RETICULUM STRESS | RESPIRATORY SYSTEM | SFTPC MUTATION | DYSKERATOSIS-CONGENITA | LUNG-DISEASE | PROMOTER | APLASTIC-ANEMIA | BONE-MARROW FAILURE | Idiopathic Pulmonary Fibrosis - genetics | Mucin-5B - genetics | Humans | Male | Mutation - genetics | RNA - genetics | Telomerase - genetics | Lung Diseases, Interstitial - genetics | Pedigree | Pulmonary Surfactant-Associated Protein C - genetics | Female | Idiopathic Pulmonary Fibrosis - physiopathology | Lung Diseases, Interstitial - physiopathology
telomerase | telomerase reverse transcriptase | MUC5B | ATP-binding cassette 3 | surfactant | SURFACTANT PROTEIN-C | ABCA3 MUTATIONS | TELOMERASE MUTATIONS | ENDOPLASMIC-RETICULUM STRESS | RESPIRATORY SYSTEM | SFTPC MUTATION | DYSKERATOSIS-CONGENITA | LUNG-DISEASE | PROMOTER | APLASTIC-ANEMIA | BONE-MARROW FAILURE | Idiopathic Pulmonary Fibrosis - genetics | Mucin-5B - genetics | Humans | Male | Mutation - genetics | RNA - genetics | Telomerase - genetics | Lung Diseases, Interstitial - genetics | Pedigree | Pulmonary Surfactant-Associated Protein C - genetics | Female | Idiopathic Pulmonary Fibrosis - physiopathology | Lung Diseases, Interstitial - physiopathology
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2017, Volume 76, Issue Suppl 2, p. 1049
BackgroundDespite its high prevalence and mortality, little is known about the pathogenesis of RA–associated interstitial lung disease (RA-ILD). Given that...
Telomeres | Pulmonary fibrosis | Rheumatoid arthritis | Lung diseases | Fibrosis | Mutation | Risk factors
Telomeres | Pulmonary fibrosis | Rheumatoid arthritis | Lung diseases | Fibrosis | Mutation | Risk factors
Journal Article
European Respiratory Journal, ISSN 0903-1936, 05/2017, Volume 49, Issue 5, pp. 1602314 - 1602314
Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given...
MORTALITY | RTEL1 | VARIANTS | PATTERN | TELOMERASE | RESPIRATORY SYSTEM | COHORT | DEATH | MUTATIONS | PNEUMONIA | IDENTIFICATION | Humans | Middle Aged | Male | Pulmonary Fibrosis - genetics | Arthritis, Rheumatoid - complications | Case-Control Studies | Exome | Telomerase - genetics | Adult | Female | DNA Helicases - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Pulmonary Fibrosis - complications | Europe | Risk Factors | Lung Diseases, Interstitial - complications | Sequence Analysis, DNA | Arthritis, Rheumatoid - genetics | Phenotype | Lung Diseases, Interstitial - genetics | Heterozygote | Aged | Software | Mutation | Telomeres | Pulmonary fibrosis | Rheumatoid arthritis | Lung diseases | Fibrosis | Risk factors
MORTALITY | RTEL1 | VARIANTS | PATTERN | TELOMERASE | RESPIRATORY SYSTEM | COHORT | DEATH | MUTATIONS | PNEUMONIA | IDENTIFICATION | Humans | Middle Aged | Male | Pulmonary Fibrosis - genetics | Arthritis, Rheumatoid - complications | Case-Control Studies | Exome | Telomerase - genetics | Adult | Female | DNA Helicases - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Pulmonary Fibrosis - complications | Europe | Risk Factors | Lung Diseases, Interstitial - complications | Sequence Analysis, DNA | Arthritis, Rheumatoid - genetics | Phenotype | Lung Diseases, Interstitial - genetics | Heterozygote | Aged | Software | Mutation | Telomeres | Pulmonary fibrosis | Rheumatoid arthritis | Lung diseases | Fibrosis | Risk factors
Journal Article
2004, Bible in ancient Christianity, ISBN 9004098151, Volume 1., 2 v.
Book
FEBS LETTERS, ISSN 0014-5793, 05/2003, Volume 543, Issue 1-3, pp. 125 - 128
The cyclin-dependent kinase inhibitor p57(Kip2) is required for normal mouse embryonic development. p57(Kip2) consists of four structurally distinct domains in...
DOMAIN | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | MEDIATED DEGRADATION | MYOBLASTS | p57(Kip2) | DEPENDENT KINASE INHIBITOR | P27(KIP1) | CELL BIOLOGY | DIRECT BINDING | T342A | BIOPHYSICS | P27 | ubiquitination | GROWTH | DIFFERENTIATION | phosphorylation | Consensus Sequence | Protein Structure, Tertiary | Amino Acid Sequence | Cell Line | Muscle, Skeletal - enzymology | Phosphorylation | Cyclin-Dependent Kinases - metabolism | Molecular Sequence Data | Multienzyme Complexes - metabolism | Muscle, Skeletal - metabolism | Nuclear Proteins - metabolism | Cyclin-Dependent Kinase Inhibitor p57 | Muscle, Skeletal - cytology | Nuclear Proteins - chemistry | Proteasome Endopeptidase Complex | Threonine - metabolism | Animals | Cysteine Endopeptidases - metabolism | Mice | Ubiquitins - metabolism
DOMAIN | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | MEDIATED DEGRADATION | MYOBLASTS | p57(Kip2) | DEPENDENT KINASE INHIBITOR | P27(KIP1) | CELL BIOLOGY | DIRECT BINDING | T342A | BIOPHYSICS | P27 | ubiquitination | GROWTH | DIFFERENTIATION | phosphorylation | Consensus Sequence | Protein Structure, Tertiary | Amino Acid Sequence | Cell Line | Muscle, Skeletal - enzymology | Phosphorylation | Cyclin-Dependent Kinases - metabolism | Molecular Sequence Data | Multienzyme Complexes - metabolism | Muscle, Skeletal - metabolism | Nuclear Proteins - metabolism | Cyclin-Dependent Kinase Inhibitor p57 | Muscle, Skeletal - cytology | Nuclear Proteins - chemistry | Proteasome Endopeptidase Complex | Threonine - metabolism | Animals | Cysteine Endopeptidases - metabolism | Mice | Ubiquitins - metabolism
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PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor
Gastroenterology, ISSN 0016-5085, 01/2004, Volume 126, Issue 1, pp. 318 - 321
Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant genetic disorder associated with KIT germline mutations. In sporadic forms of the...
ORGANIZATION | DOMAIN | C-KIT GENE | GROWTH | GASTROENTEROLOGY & HEPATOLOGY | RECEPTOR TYROSINE KINASE | ACTIVATING MUTATIONS | Base Sequence - genetics | Genetic Predisposition to Disease - genetics | Gastrointestinal Neoplasms - genetics | Humans | Middle Aged | Molecular Sequence Data | Male | Amino Acid Sequence - genetics | Germ-Line Mutation - genetics | Mutation, Missense - genetics | Pedigree | Receptor, Platelet-Derived Growth Factor alpha - genetics | Adult | Female | Tyrosine | Platelet-derived growth factor | Codon | Gene mutations | Genes | Genetic research | Aspartate | Genetic aspects | Tumors
ORGANIZATION | DOMAIN | C-KIT GENE | GROWTH | GASTROENTEROLOGY & HEPATOLOGY | RECEPTOR TYROSINE KINASE | ACTIVATING MUTATIONS | Base Sequence - genetics | Genetic Predisposition to Disease - genetics | Gastrointestinal Neoplasms - genetics | Humans | Middle Aged | Molecular Sequence Data | Male | Amino Acid Sequence - genetics | Germ-Line Mutation - genetics | Mutation, Missense - genetics | Pedigree | Receptor, Platelet-Derived Growth Factor alpha - genetics | Adult | Female | Tyrosine | Platelet-derived growth factor | Codon | Gene mutations | Genes | Genetic research | Aspartate | Genetic aspects | Tumors
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Updated S3-Guideline Colitis ulcerosa. German Society for Digestive and Metabolic Diseases (DGVS)
ZEITSCHRIFT FUR GASTROENTEROLOGIE, ISSN 0044-2771, 09/2018, Volume 56, Issue 9, pp. 1087 - 1169
This guideline provides evidence-based key recommendations for diagnosis and treatment of ulcerative colitis and upgrades the 2011 version. The guideline was...
C-REACTIVE PROTEIN | treatment | CLOSTRIDIUM-DIFFICILE INFECTION | SEVERE ULCERATIVE-COLITIS | POUCH-ANAL-ANASTOMOSIS | RANDOMIZED CLINICAL-TRIAL | diagnosis | IBD | LOW-GRADE DYSPLASIA | INFLAMMATORY-BOWEL-DISEASE | EVIDENCE-BASED CONSENSUS | remission | TERM-FOLLOW-UP | ulcerative colitis | QUALITY-OF-LIFE | GASTROENTEROLOGY & HEPATOLOGY | maintenance
C-REACTIVE PROTEIN | treatment | CLOSTRIDIUM-DIFFICILE INFECTION | SEVERE ULCERATIVE-COLITIS | POUCH-ANAL-ANASTOMOSIS | RANDOMIZED CLINICAL-TRIAL | diagnosis | IBD | LOW-GRADE DYSPLASIA | INFLAMMATORY-BOWEL-DISEASE | EVIDENCE-BASED CONSENSUS | remission | TERM-FOLLOW-UP | ulcerative colitis | QUALITY-OF-LIFE | GASTROENTEROLOGY & HEPATOLOGY | maintenance
Journal Article
FEBS Letters, ISSN 0014-5793, 05/2003, Volume 543, Issue 1-3, pp. 125 - 128
The cyclin‐dependent kinase inhibitor p57Kip2 is required for normal mouse embryonic development. p57Kip2 consists of four structurally distinct domains in...
Phosphorylation | Ubiquitination | T342A | p57Kip2 | p57
Phosphorylation | Ubiquitination | T342A | p57Kip2 | p57
Journal Article