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Neuron, ISSN 0896-6273, 04/2013, Volume 78, Issue 1, pp. 57 - 64
Valosin-containing protein (VCP) is a highly expressed member of the type II AAA+ ATPase family. mutations are the cause of inclusion body myopathy, Paget’s... 
LIPID-PEROXIDATION | SPINAL-CORD PATHOLOGY | MOUSE MODEL | ALS | AMYOTROPHIC-LATERAL-SCLEROSIS | DYSFUNCTION | BONE | NEUROSCIENCES | PAGET-DISEASE | TRANSGENIC MICE | REVEALS | RNA, Small Interfering - genetics | Humans | Middle Aged | Male | Frontotemporal Dementia - metabolism | Neurons - ultrastructure | Muscular Dystrophies, Limb-Girdle - genetics | Adenosine Triphosphate - metabolism | Membrane Potential, Mitochondrial - genetics | Muscular Dystrophies, Limb-Girdle - pathology | NAD - metabolism | Fibroblasts - metabolism | Animals, Newborn | Frontotemporal Dementia - genetics | Magnesium - metabolism | Mitochondria - pathology | Fibroblasts - pathology | Mutation - genetics | Myositis, Inclusion Body - genetics | Osteitis Deformans - pathology | Muscular Dystrophies, Limb-Girdle - metabolism | Analysis of Variance | Luminescent Proteins - genetics | Adenosine Triphosphatases - genetics | Mice | Lipid Peroxidation - genetics | RNA, Small Interfering - metabolism | Valosin Containing Protein | Osteitis Deformans - metabolism | Family Health | Cerebral Cortex - cytology | Case-Control Studies | Osteitis Deformans - genetics | Transfection | Mitochondria - genetics | Cell Cycle Proteins - genetics | Myositis, Inclusion Body - pathology | Adult | Female | Neuroblastoma - pathology | Frontotemporal Dementia - pathology | Adenosine Triphosphatases - deficiency | Mice, Inbred C57BL | Cells, Cultured | Cell Cycle Proteins - deficiency | Mitochondria - metabolism | Animals | Oxygen Consumption - genetics | Myositis, Inclusion Body - metabolism | Aged | Nervous system diseases | Neurosciences | Genes | Amyotrophic lateral sclerosis | Genetic aspects | Adenosine triphosphatase | Dementia | Proteins | Medical research | Phosphorylation | Biomedical research | Disease | Rodents | Respiration | Experiments | Patients | Index Medicus | Report
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 11/2014, Volume 38, Issue 11, pp. 1501 - 1509
Lynch syndrome (LS) is an autosomal dominant inherited disorder caused by germline mutations in DNA mismatch repair (MMR) genes. Mutation carriers are at... 
Microsatellite instability | Endometrial adenocarcinoma | Lynch syndrome | Mismatch-repair deficiency | SURGERY | mismatch-repair deficiency | microsatellite instability | NONPOLYPOSIS COLORECTAL-CANCER | REPAIR PROTEIN IMMUNOHISTOCHEMISTRY | RISK | GENE MUTATION | endometrial adenocarcinoma | PATHOLOGY | CLINICAL-CRITERIA | ACADEMIC-MEDICAL-CENTER | TUMOR MORPHOLOGY | GERMLINE MUTATIONS | GYNECOLOGIC CANCERS | Immunohistochemistry | MutL Protein Homolog 1 | Predictive Value of Tests | Microsatellite Instability | Biomarkers, Tumor - deficiency | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | DNA Mismatch Repair - genetics | Mass Screening - methods | DNA-Binding Proteins - deficiency | Neoplasm Grading | Endometrial Neoplasms - genetics | DNA Mutational Analysis | MutS Homolog 2 Protein - deficiency | Nuclear Proteins - deficiency | Aged, 80 and over | Adult | Female | Mismatch Repair Endonuclease PMS2 | DNA Repair Enzymes - deficiency | Adenosine Triphosphatases - deficiency | Endometrial Neoplasms - chemistry | Risk Assessment | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Risk Factors | California | Biopsy | Adaptor Proteins, Signal Transducing - deficiency | Endometrial Neoplasms - pathology | Aged | Biomarkers, Tumor - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - chemistry | Index Medicus
Journal Article
Journal Article
Gynecologic Oncology, ISSN 0090-8258, 2013, Volume 130, Issue 1, pp. 121 - 126
Abstract Objectives Lynch syndrome (LS) is a hereditary condition that increases the risk for endometrial and other cancers. Recognizing women at risk for LS... 
Hematology, Oncology and Palliative Medicine | Obstetrics and Gynecology | Immunohistochemistry | Genetic counseling | Microsatellite instability | Genetic testing | Endometrial cancer | Lynch syndrome | WOMEN | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | CARCINOMA | OBSTETRICS & GYNECOLOGY | MutL Protein Homolog 1 | MutS Homolog 2 Protein - biosynthesis | Early Detection of Cancer - methods | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | DNA Repair Enzymes - genetics | Genetic Counseling | DNA-Binding Proteins - deficiency | Endometrial Neoplasms - genetics | Nuclear Proteins - biosynthesis | Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis | Adenosine Triphosphatases - biosynthesis | MutS Homolog 2 Protein - deficiency | Nuclear Proteins - deficiency | Female | Mismatch Repair Endonuclease PMS2 | Nuclear Proteins - genetics | DNA Repair Enzymes - deficiency | Microsatellite Repeats | Adenosine Triphosphatases - deficiency | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | MutS Homolog 2 Protein - genetics | Academic Medical Centers | DNA-Binding Proteins - genetics | Endometrial Neoplasms - diagnosis | Adaptor Proteins, Signal Transducing - deficiency | DNA Repair Enzymes - biosynthesis | Adaptor Proteins, Signal Transducing - genetics | Endometrial Neoplasms - pathology | Adaptor Proteins, Signal Transducing - biosynthesis | Adenosine Triphosphatases - genetics | DNA-Binding Proteins - biosynthesis | Diagnosis | Medical centers | Cancer
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2010, Volume 53, Issue 1, pp. 170 - 178
Background & Aims Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in... 
Gastroenterology and Hepatology | Pediatrics | FIC1 | ATP binding cassette protein | BSEP | ATP8B1 | Genetics | Transport protein | ABCB11 | P-type ATPase | Cholestasis | MANAGEMENT | DIARRHEA | SALT EXPORT PUMP | EXTERNAL BILIARY DIVERSION | CHILDREN | LIVER | SECRETION | GASTROENTEROLOGY & HEPATOLOGY | FAMILIAL INTRAHEPATIC CHOLESTASIS | ABCB11 MUTATIONS | BILE | gamma-Glutamyltransferase - blood | Humans | Child, Preschool | Infant | Male | Young Adult | ATP-Binding Cassette Transporters - genetics | ATP-Binding Cassette Transporters - metabolism | Adult | Female | Retrospective Studies | Child | Infant, Newborn | Adenosine Triphosphatases - deficiency | Diagnosis, Differential | Cholestasis, Intrahepatic - genetics | Kaplan-Meier Estimate | Bile Acids and Salts - metabolism | Disease Progression | Pregnancy | Cholestasis, Intrahepatic - metabolism | Phenotype | Cholestasis, Intrahepatic - diagnosis | ATP Binding Cassette Subfamily B Member 11 | Adolescent | Age of Onset | Adenosine Triphosphatases - genetics | Mutation | Evaluation | Medical colleges | Bile acids | Phosphatases | Children's hospitals | Oncology, Experimental | Aspartate | Research | Food and nutrition | Armed Forces | Medical genetics | Transplantation of organs, tissues, etc | Anesthesia | Children | Arctic peoples | Health aspects | Adenosine triphosphatase | Cancer | Protein binding | transport protein | genetics | cholestasis | pediatrics
Journal Article
Journal Article
Nature Reviews Cancer, ISSN 1474-175X, 03/2003, Volume 3, Issue 3, pp. 169 - 178
RecQ helicases are highly conserved from bacteria to man. Germline mutations in three of the five known family members in humans give rise to debilitating... 
BLOOMS-SYNDROME GENE | TOPOISOMERASE-III-ALPHA | SYNDROME DNA HELICASE | FUNCTIONAL INTERACTION | ONCOLOGY | ROTHMUND-THOMSON-SYNDROME | STALLED REPLICATION FORKS | MISMATCH REPAIR | HOLLIDAY JUNCTIONS | WERNER-SYNDROME PROTEIN | SISTER-CHROMATID EXCHANGES | Species Specificity | Humans | Rothmund-Thomson Syndrome - enzymology | Werner Syndrome Helicase | DNA Repair - physiology | DNA Repair - genetics | Escherichia coli Proteins - physiology | RecQ Helicases | Cell Transformation, Neoplastic - genetics | Werner Syndrome - genetics | DNA Helicases - genetics | Genes, Tumor Suppressor | Protein Structure, Tertiary | Adenosine Triphosphatases - deficiency | Bloom Syndrome - enzymology | DNA Helicases - chemistry | Genetic Predisposition to Disease | Mutagenesis - genetics | DNA Helicases - deficiency | Bloom Syndrome - genetics | Werner Syndrome - enzymology | Mice, Knockout | Protein Interaction Mapping | Rothmund-Thomson Syndrome - genetics | Animals | DNA Replication - physiology | Multienzyme Complexes - physiology | DNA Replication - genetics | Escherichia coli Proteins - genetics | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Mice | Exodeoxyribonucleases | Adenosine Triphosphatases - physiology | DNA Helicases - physiology | Gene mutations | Physiological aspects | Genetic aspects | Research | Health aspects | Helicases | Cancer
Journal Article
Journal Article