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Clinical Immunology, ISSN 1521-6616, 2016, Volume 163, pp. 60 - 65
Abstract Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic autoimmune disease characterized by early-onset... 
Allergy and Immunology | Autoimmunity | IPEX | Mutation | FOXP3 | Primary immunodeficiency | X-LINKED SYNDROME | ENTEROPATHY | STABILITY | IMMUNOLOGY | IMMUNE DYSREGULATION | DIMER | SEQUENCE | DISEASE | REGULATORY T-CELLS | POLYENDOCRINOPATHY | IMMUNODYSREGULATION | Eczema - genetics | Eczema - immunology | Immune System Diseases - genetics | Humans | Diabetes Mellitus, Type 1 - congenital | Infant | Male | Meningoencephalitis - immunology | Thrombocytopenia - genetics | Immunoglobulin E - immunology | Diarrhea - immunology | Eosinophilia - genetics | Fatal Outcome | Hepatomegaly - immunology | Genetic Diseases, X-Linked - genetics | Diabetes Mellitus, Type 1 - immunology | Dimerization | Hemorrhage - genetics | Sepsis - immunology | Splenomegaly - genetics | Growth Disorders - immunology | Hemorrhage - immunology | Splenomegaly - immunology | Thrombocytopenia - immunology | Immune System Diseases - immunology | Leukocytosis - immunology | Meningoencephalitis - genetics | Diabetes Mellitus, Type 1 - genetics | Models, Molecular | Klebsiella Infections - genetics | Hepatomegaly - genetics | Forkhead Transcription Factors - genetics | Sepsis - genetics | Lung Diseases - immunology | Genetic Diseases, X-Linked - immunology | Immune System Diseases - congenital | Thymus Gland - abnormalities | Lung Diseases - genetics | Eosinophilia - immunology | Diarrhea - genetics | Klebsiella Infections - immunology | Phenylalanine - genetics | Hydrophobic and Hydrophilic Interactions | Growth Disorders - genetics | Leukocytosis - genetics
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 03/2012, Volume 287, Issue 10, pp. 7345 - 7356
Journal Article
PLOS ONE, ISSN 1932-6203, 11/2015, Volume 10, Issue 11, p. e0143216
Chromosomal translocations are driver mutations of human cancers, particularly leukemias. They define disease subtypes and are used as prognostic markers, for... 
CHROMOSOMAL TRANSLOCATIONS | LEUCINE-ZIPPER | GENE | ACUTE-LYMPHOBLASTIC-LEUKEMIA | E2A | MULTIDISCIPLINARY SCIENCES | CHIMERIC TRANSCRIPTION FACTOR | ANTIAPOPTOTIC ACTIVITY | TRANSACTIVATION DOMAINS | LINEAGE LEUKEMIA | TRANSGENIC MICE | Hepatomegaly - pathology | Translocation, Genetic | Oncogene Proteins, Fusion - metabolism | Basic-Leucine Zipper Transcription Factors - metabolism | Humans | Precursor Cells, B-Lymphoid - metabolism | Antigens, CD19 - genetics | Splenomegaly - pathology | Precursor Cell Lymphoblastic Leukemia-Lymphoma - metabolism | Cell Death - genetics | Precursor Cells, B-Lymphoid - pathology | Cell Transformation, Neoplastic - genetics | Integrases - metabolism | Precursor Cell Lymphoblastic Leukemia-Lymphoma - pathology | Disease Models, Animal | Promoter Regions, Genetic | Gene Expression | Splenomegaly - genetics | Mice, Transgenic | Basic-Leucine Zipper Transcription Factors - genetics | Hepatomegaly - genetics | Splenomegaly - metabolism | Cell Transformation, Neoplastic - metabolism | Gene Knock-In Techniques | CD79 Antigens - metabolism | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Animals | Genetic Engineering | Oncogene Proteins, Fusion - genetics | Antigens, CD19 - metabolism | Hepatomegaly - metabolism | Mice | CD79 Antigens - genetics | Cell Transformation, Neoplastic - pathology | Myxovirus Resistance Proteins - genetics | Integrases - genetics | Myxovirus Resistance Proteins - metabolism | Genetic aspects | B cells | Health aspects | Leukemia | Hematopoietic stem cells | Flow cytometry | Transformation | Transcription factors | Laboratories | Genomics | Genes | Proteins | Precursors | Transgenic animals | Rodents | Bone marrow | Translocation | Immunoglobulins | CD19 antigen | Anemia | Mortality | Minimal residual disease | Myelocytes | Progenitor cells | Hemopoiesis | Pathology | Chromosome translocations | Leukocytosis | Lymphocytes B | Lymphopenia | Cell death | Medical prognosis | Cells (biology) | Stem cells | Comparative studies | Infiltration | Mutation | Apoptosis
Journal Article
Journal Article
Genes and Development, ISSN 0890-9369, 08/2010, Volume 24, Issue 16, pp. 1718 - 1730
The molecular signals that control the maintenance and activation of liver stem/progenitor cells are poorly understood, and the role of liver progenitor cells... 
Liver progenitor | Hepatocellular carcinoma | Cholangiocellular carcinoma | NF2 | EGFR | Merlin | RAT-LIVER | MEDIATES CONTACT INHIBITION | STEM-CELL NICHE | DEVELOPMENTAL BIOLOGY | CELL BIOLOGY | cholangiocellular carcinoma | ORGAN SIZE | NF2 TUMOR-SUPPRESSOR | liver progenitor | GROWTH-FACTOR-ALPHA | GENETICS & HEREDITY | OVAL CELLS | HUMAN HEPATOCELLULAR-CARCINOMA | hepatocellular carcinoma | RENAL-CARCINOMA | TRANSGENIC MICE | Neurofibromin 2 - genetics | Cell Proliferation | Male | Stem Cells - cytology | Liver - physiopathology | Phosphoproteins - metabolism | Stem Cells - metabolism | Receptor, Epidermal Growth Factor - metabolism | Carcinoma, Hepatocellular - genetics | Liver Neoplasms - physiopathology | Female | Neurofibromin 2 - metabolism | Carcinoma, Hepatocellular - physiopathology | Cholangiocarcinoma - physiopathology | Liver Neoplasms - genetics | Signal Transduction | Cells, Cultured | Hepatomegaly - genetics | Neurofibromatosis 2 - genetics | Animals | Homeostasis - physiology | Cholangiocarcinoma - genetics | Receptor, Epidermal Growth Factor - antagonists & inhibitors | Liver - cytology | Mice | Adaptor Proteins, Signal Transducing - metabolism | Hepatomegaly - physiopathology | Homeostasis - genetics | Physiological aspects | Tumor suppressor genes | Genetic aspects | Hepatoma | Research | Stem cells | Research Paper
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2018, Volume 19, Issue 1, pp. 178 - 9
Background: Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the... 
GBA gene | Glucocerebrosidase | β-Glucosidase | Adult Gaucher disease | Chitotriosidase | Indian population | Leu444Pro carrier frequency | GLUCOCEREBROSIDASE GENE | MULTICENTER | ENZYME | beta-Glucosidase | GENETICS & HEREDITY | LYSOSOMAL STORAGE DISORDERS | Hepatomegaly - pathology | Exons | Hepatomegaly - enzymology | Humans | Lysosomes - enzymology | Male | Gaucher Disease - pathology | Splenomegaly - pathology | beta-Glucosidase - chemistry | Splenomegaly - diagnosis | DNA Mutational Analysis | beta-Glucosidase - genetics | Base Sequence | beta-Glucosidase - metabolism | Adult | Female | Lysosomes - pathology | Child | Hexosaminidases - blood | Carrier State | Gaucher Disease - enzymology | Severity of Illness Index | Amino Acid Sequence | Gene Expression | Protein Structure, Secondary | Splenomegaly - genetics | Gene Frequency | Hepatomegaly - genetics | Hexosaminidases - genetics | India | Gaucher Disease - genetics | Alleles | Hepatomegaly - diagnosis | Splenomegaly - enzymology | Mutation | Gaucher Disease - diagnosis | Glucosylceramides - metabolism | Enzymes | Genetic susceptibility | Research | Rare diseases | Gene mutations | Genetic research | Hydrolases | Genetic aspects | Nucleotide sequencing | Health aspects | Methods | DNA sequencing | Gaucher's disease | Splenomegaly | Biochemical analysis | Parkinsons disease | Lysosomes | Homology | Leukocytes | Patients | Population genetics | Polymerase chain reaction | Genetic counseling | Restriction fragment length polymorphism | Enzymatic activity | Gene frequency | Jews | Population | Genetics | Glucosylceramidase | Children | Protein structure
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 02/2014, Volume 289, Issue 6, pp. 3244 - 3261
Journal Article
Pediatric and Developmental Pathology, ISSN 1093-5266, 12/2017, Volume 20, Issue 6, pp. 498 - 505
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2001, Volume 28, Issue 4, pp. 365 - 370
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2006, Volume 16, Issue 12, pp. 821 - 829
We present clinical and laboratory data from 14 cases with an isolated deficiency of the mitochondrial ATP synthase (7–30% of control) caused by nuclear... 
Hypertrophic cardiomyopathy | ATP synthase | Mitochondria | 3-Methyl-glutaconic aciduria | Newborn | Lactic acidosis | OXIDATIVE-PHOSPHORYLATION | CARDIOLIPIN | DEFECTS | MECHANISM | mitochondria | F-1-ATPASE | lactic acidosis | BARTH-SYNDROME | 3-METHYLGLUTACONIC ACIDURIA | newborn | NEUROSCIENCES | CLINICAL NEUROLOGY | ASSEMBLY FACTORS | DNA | 3-methyl-glutaconic aciduria | hypertrophic cardiomyopathy | NARP MUTATION | Mitochondria - enzymology | Microcephaly - genetics | Cardiomyopathy, Hypertrophic, Familial - genetics | Lactic Acid - blood | Mitochondrial Encephalomyopathies - physiopathology | Face - abnormalities | Hepatomegaly - enzymology | Humans | Mitochondrial Encephalomyopathies - enzymology | Child, Preschool | Infant | Male | Microcephaly - enzymology | Cardiomyopathy, Hypertrophic, Familial - enzymology | Mitochondrial Proton-Translocating ATPases - genetics | Mitochondria - genetics | Adenosine Triphosphate - metabolism | Female | Child | Infant, Newborn | Mitochondrial Diseases - genetics | Cardiomyopathy, Hypertrophic, Familial - physiopathology | Genetic Predisposition to Disease - genetics | Mitochondrial Encephalomyopathies - genetics | Mitochondrial Proton-Translocating ATPases - deficiency | Hepatomegaly - genetics | Syndrome | Mitochondrial Diseases - enzymology | Cell Nucleus - genetics | Adolescent | Age of Onset | Mitochondrial Diseases - physiopathology | Hepatomegaly - physiopathology | Genetic research | Cardiomyopathy | MEDICIN OCH HÄLSOVETENSKAP | Adenosine Triphosphate | Microcephaly | Mitochondrial Diseases | genetics | Hepatomegaly | Hypertrophic | Familial | Face | MEDICAL AND HEALTH SCIENCES | Mitochondrial Encephalomyopathies | Genetic Predisposition to Disease | Lactic Acid | abnormalities | Preschool | blood | enzymology | physiopathology | Mitochondrial Proton-Translocating ATPases | deficiency | metabolism | Cell Nucleus
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2009, Volume 4, Issue 4, pp. e5170 - e5170
Background: Trypanosoma congolense are extracellular protozoan parasites of the blood stream of artiodactyls and are one of the main constraints on cattle... 
BIOLOGY | Splenomegaly | Trypanosomiasis, African - complications | Humans | Male | Gene Expression Profiling | Acute-Phase Proteins - genetics | Transferrin - genetics | Anemia - veterinary | Ferritins - metabolism | Hepatomegaly | Cattle | Ferritins - genetics | Immunity, Innate - physiology | Microarray Analysis | Female | Hematopoiesis - physiology | Anemia - etiology | Anemia - immunology | Acute-Phase Proteins - metabolism | Parasitemia - immunology | Mice, Inbred C57BL | Africa | Anemia - parasitology | Trypanosomiasis, African - veterinary | Hemoglobins - metabolism | Transcription Factors - genetics | Iron - metabolism | Transcription Factors - metabolism | Trypanosomiasis, African - immunology | Macrophages - metabolism | Animals | Trypanosoma congolense - metabolism | Erythrocytes - metabolism | Trypanosoma congolense - pathogenicity | Mice | Mice, Inbred BALB C | Transferrin - metabolism | Infection | Erythropoietin | Anemia | Physiological aspects | Chronic diseases | Beef cattle | DNA binding proteins | Genetic transcription | T cells | Erythropoiesis | Biotechnology | Transcription factors | Syngeneic grafts | Liver | Genes | Lymphocytes T | Iron | Infections | Cyclosporin A | Parasites | Recovery | Blood | Interleukin 6 | GATA-1 protein | Immunology | Lymphocytes | Animal tissues | Immune system | Spleen | Parasitology | Immune response | Kidneys | Cytokines | Glycoproteins | Inflammation | Breeding of animals | Gene expression | Metabolism | Apolipoproteins | Computer science | Livestock
Journal Article