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1. Full Text Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy
by Gibbs, Elizabeth M and Clarke, Nigel F and Rose, Kristy and Oates, Emily C and Webster, Richard and Feldman, Eva L and Dowling, James J
Journal of molecular medicine (Berlin, Germany), ISSN 0946-2716, 6/2013, Volume 91, Issue 6, pp. 727 - 737
Human Genetics | Acetylcholinesterase inhibitor | Biomedicine | Internal Medicine | Molecular Medicine | Neuromuscular junction | Dynamin-2 | Myopathy | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Pyridostigmine Bromide - therapeutic use | Dynamin II - physiology | Myopathies, Structural, Congenital - physiopathology | Humans | Muscle, Skeletal - ultrastructure | Motor Activity - drug effects | Male | Zebrafish | Neuromuscular Junction - physiopathology | Young Adult | Myopathies, Structural, Congenital - drug therapy | Animals | Myopathies, Structural, Congenital - pathology | Muscle Weakness | Adult | Female | Muscle, Skeletal - pathology | Cholinesterase Inhibitors - therapeutic use | Child | Disease Models, Animal | Neurosciences | Analysis | Enzyme inhibitors | Index Medicus
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2. Full Text Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
by Marchegiani, Shannon and Davis, Taylor and Tessadori, Federico and van Haaften, Gijs and Brancati, Francesco and Hoischen, Alexander and Huang, Haigen and Valkanas, Elise and Pusey, Barbara and Schanze, Denny and Venselaar, Hanka and Vulto-van Silfhout, Anneke T and Wolfe, Lynne A and Tifft, Cynthia J and Zerfas, Patricia M and Zambruno, Giovanna and Kariminejad, Ariana and Sabbagh-Kermani, Farahnaz and Lee, Janice and Tsokos, Maria G and Lee, Chyi-Chia R and Ferraz, Victor and da Silva, Eduarda Morgana and Stevens, Cathy A and Roche, Nathalie and Bartsch, Oliver and Farndon, Peter and Bermejo-Sanchez, Eva and Brooks, Brian P and Maduro, Valerie and Dallapiccola, Bruno and Ramos, Feliciano J and Chung, Hon-Yin Brian and Le Caignec, Cédric and Martins, Fabiana and Jacyk, Witold K and Mazzanti, Laura and Brunner, Han G and Bakkers, Jeroen and Lin, Shuo and Malicdan, May Christine V and Boerkoel, Cornelius F and Gahl, William A and de Vries, Bert B.A and van Haelst, Mieke M and Zenker, Martin and Markello, Thomas C
American journal of human genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 99 - 110
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Humans | Molecular Sequence Data | Hirsutism - pathology | Mutation, Missense - genetics | Chromatin Immunoprecipitation | Base Sequence | Hypertrichosis - pathology | Skin Abnormalities - pathology | Abnormalities, Multiple - genetics | Eyelid Diseases - genetics | Twist-Related Protein 1 - chemistry | Amino Acid Sequence | Eyelid Diseases - pathology | Repressor Proteins - chemistry | Hirsutism - genetics | Macrostomia - pathology | Hypertelorism - genetics | Models, Molecular | Repressor Proteins - genetics | Zebrafish | Hypertelorism - pathology | Macrostomia - genetics | Eye Abnormalities - genetics | Microscopy, Electron | Sequence Analysis, DNA | Exome - genetics | Phenotype | Animals | Hypertrichosis - genetics | Eye Abnormalities - pathology | Twist-Related Protein 1 - genetics | Protein Conformation | Skin Abnormalities - genetics | HeLa Cells | Physiological aspects | Genetic disorders | Gene mutations | Identification and classification | Genotype & phenotype | Correlation analysis | Amino acids | Mutation | Deoxyribonucleic acid--DNA | Index Medicus
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3. Full Text Zebrafish (Danio rerio) fed vitamin E-deficient diets produce embryos with increased morphologic abnormalities and mortality
by Miller, Galen W and Labut, Edwin M and Lebold, Katie M and Floeter, Abby and Tanguay, Robert L and Traber, Maret G
The Journal of nutritional biochemistry, ISSN 0955-2863, 05/2012, Volume 23, Issue 5, pp. 478 - 486
Embryonic development | α-Tocopherol | Ascorbic acid | γ-Tocopherol | Liver | Morphology | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Nutrition & Dietetics | Science & Technology | Fundamental and applied biological sciences. Psychology | Feeding. Feeding behavior | Biological and medical sciences | Vertebrates: anatomy and physiology, studies on body, several organs or systems | Embryo, Nonmammalian - abnormalities | alpha-Tocopherol - administration & dosage | Animals | Zebrafish - abnormalities | Zebrafish - metabolism | Embryo, Nonmammalian - metabolism | Vitamins - metabolism | Female | alpha-Tocopherol - metabolism | Vitamins - administration & dosage | Disease Models, Animal | Phosphates | Growth | Liquid chromatography | Muscle proteins | Organic acids | Vitamins | Glutathione transferase | Vitamin E | Cell death | Ligases | Analysis | Tocopherols | Fetus | Peroxidase | Phospholipases | Children | Health aspects | Index Medicus | alpha tocopherol | ascorbic acid | morphology | liver | embryonic development | gamma tocopherol
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4. Full Text Fetal alcohol spectrum disorder predisposes to metabolic abnormalities in adulthood
by Weeks, Olivia and Bossé, Gabriel D and Oderberg, Isaac M and Akle, Sebastian and Houvras, Yariv and Wrighton, Paul J and LaBella, Kyle and Iversen, Isabelle and Tavakoli, Sahar and Adatto, Isaac and Schwartz, Arkadi and Kloosterman, Daan and Tsomides, Allison and Charness, Michael E and Peterson, Randall T and Steinhauser, Matthew L and Fazeli, Pouneh K and Goessling, Wolfram
The Journal of clinical investigation, ISSN 0021-9738, 05/2020, Volume 130, Issue 5, pp. 2252 - 2269
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Liver - pathology | Humans | Male | Diabetes Mellitus, Type 2 - metabolism | Fetal Alcohol Spectrum Disorders - pathology | Adult | Diabetes Mellitus, Type 2 - etiology | Female | Obesity - etiology | Registries | Infant, Newborn | Liver - metabolism | Mice, Transgenic | Zebrafish | Intra-Abdominal Fat - metabolism | Prenatal Exposure Delayed Effects - metabolism | Obesity - metabolism | Obesity - pathology | Pregnancy | Fetal Alcohol Spectrum Disorders - metabolism | Animals | Mice | Diabetes Mellitus, Type 2 - pathology | Intra-Abdominal Fat - pathology | Prenatal Exposure Delayed Effects - pathology | Type 2 diabetes | Fetal alcohol syndrome | Obesity | Medical research | Usage | Pregnant women | Analysis | Medicine, Experimental | Effect of alcohol on | Fetus | Neonates | Adipose tissue | Transcription | Body weight | Population studies | Metabolic syndrome | Males | Risk factors | Hyperglycemia | Metabolites | Prenatal experience | Diabetes mellitus (non-insulin dependent) | Lipoproteins (high density) | Locomotor activity | Phenotypes | Fasting | Triglycerides | Patients | Embryos | Studies | Hypotheses | Diet | Adults | Diabetes | Females | Metabolic disorders | Index Medicus | Abridged Index Medicus
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5. Full Text Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
by Brockschmidt, Antje and Todt, Unda and Ryu, Soojin and Hoischen, Alexander and Landwehr, Christina and Birnbaum, Stefanie and Frenck, Wilhelm and Radlwimmer, Bernhard and Lichter, Peter and Engels, Hartmut and Driever, Wolfgang and Kubisch, Christian and Weber, Ruthild G
Human molecular genetics, ISSN 0964-6906, 06/2007, Volume 16, Issue 12, pp. 1488 - 1494
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Intellectual deficiency | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Haplotypes | Face - abnormalities | Humans | Hyperventilation - diagnosis | Language Development Disorders - metabolism | Intellectual Disability - genetics | Intellectual Disability - metabolism | TCF Transcription Factors - metabolism | Female | Cytogenetic Analysis | Child | DNA-Binding Proteins | Transcription Factor 4 | Hyperventilation - genetics | Language Development Disorders - genetics | Transcription Factor 7-Like 2 Protein | Syndrome | Animals | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors | Intellectual Disability - diagnosis | Zebrafish - metabolism | Models, Genetic | Transcription Factors | Mutation | TCF Transcription Factors - genetics | Hyperventilation - metabolism | Index Medicus
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6. Full Text DNA replication stress underlies renal phenotypes in CEP290-Associated Joubert syndrome
by Slaats, Gisela G and Saldivar, Joshua C and Bacal, Julien and Zeman, Michelle K and Kile, Andrew C and Hynes, Ann Marie and Srivastava, Shalabh and Nazmutdinova, Jekaterina and Den Ouden, Krista and Zagers, Miriam S and Foletto, Veronica and Verhaar, Marianne C and Miles, Colin and Sayer, John A and Cimprich, Karlene A and Giles, Rachel H
The Journal of clinical investigation, ISSN 0021-9738, 09/2015, Volume 125, Issue 9, pp. 3657 - 3666
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Retina - metabolism | Kidney - pathology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Cerebellum - abnormalities | Neoplasm Proteins - metabolism | Centrioles - pathology | Kidney - metabolism | Antigens, Neoplasm - metabolism | Kidney Diseases, Cystic - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | Cell Line | Zebrafish Proteins - metabolism | Cerebellum - metabolism | DNA Replication | Nuclear Proteins - metabolism | Eye Abnormalities - genetics | Zebrafish - genetics | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Kidney Diseases, Cystic - metabolism | Animals | Eye Abnormalities - pathology | Zebrafish - metabolism | Centrioles - genetics | Retina - abnormalities | Mice | Centrioles - metabolism | DNA Damage | Zebrafish Proteins - genetics | Retina - pathology | Physiological aspects | Cellular proteins | DNA replication | Research | Joubert syndrome | Risk factors | Mutation | Kinases | DNA damage | Rodents | Cell cycle | Index Medicus | Abridged Index Medicus
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7. Full Text Maternal and embryonic exposure to the water soluble fraction of crude oil or lead induces behavioral abnormalities in zebrafish (Danio rerio), and the mechanisms involved
by Wang, Yuanchuan and Shen, Chao and Wang, Chonggang and Zhou, Yixi and Gao, Dongxu and Zuo, Zhenghong
Chemosphere (Oxford), ISSN 0045-6535, 01/2018, Volume 191, pp. 7 - 16
Calcium channels | WSF | Behavior | Danio rerio | Environmental Sciences & Ecology | Life Sciences & Biomedicine | Science & Technology | Environmental Sciences | Metals, Heavy - metabolism | Lead - metabolism | Petroleum - metabolism | Zebrafish - abnormalities | Water Pollutants, Chemical - analysis | Zebrafish - embryology | Embryo, Nonmammalian - abnormalities | Animals | Water Pollutants, Chemical - toxicity | Larva | Zebrafish - metabolism | Petroleum - toxicity | Swimming | Lead - toxicity | Physiological aspects | Index Medicus
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8. Full Text Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development
by Van Laarhoven, Peter M and Neitzel, Leif R and Quintana, Anita M and Geiger, Elizabeth A and Zackai, Elaine H and Clouthier, David E and Artinger, Kristin B and Ming, Jeffrey E and Shaikh, Tamim H
Human molecular genetics, ISSN 0964-6906, 08/2015, Volume 24, Issue 15, pp. 4443 - 4453
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Brain - physiopathology | Face - abnormalities | Humans | Brain - abnormalities | Brain - growth & development | Craniofacial Abnormalities - physiopathology | DNA-Binding Proteins - genetics | Histone Demethylases - genetics | Zebrafish - growth & development | Abnormalities, Multiple - physiopathology | Zebrafish - genetics | Face - physiopathology | Heart Defects, Congenital - genetics | Animals | Hematologic Diseases - physiopathology | Hematologic Diseases - genetics | Heart Defects, Congenital - physiopathology | Vestibular Diseases - physiopathology | Mutation | Vestibular Diseases - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Index Medicus
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9. Full Text Defects in cardiac function precede morphological abnormalities in fish embryos exposed to polycyclic aromatic hydrocarbons
by Incardona, John P and Collier, Tracy K and Scholz, Nathaniel L
Toxicology and applied pharmacology, ISSN 0041-008X, 2004, Volume 196, Issue 2, pp. 191 - 205
Oil spill | Fish development | silent heart gene | CYP1A | Heart morphogenesis | Petroleum | Pharmacology & Pharmacy | Toxicology | Life Sciences & Biomedicine | Science & Technology | Biological and medical sciences | Chemical agents | Carcinogenesis, carcinogens and anticarcinogens | Medical sciences | Tumors | Heart - anatomy & histology | Mutagens - toxicity | Zebrafish - anatomy & histology | Kidney - embryology | Polycyclic Aromatic Hydrocarbons - toxicity | Heart - embryology | Male | Zebrafish - embryology | Heart Rate - drug effects | Troponin T - metabolism | Heart Rate - physiology | Petroleum - toxicity | Female | Kidney - physiopathology | Troponin T - genetics | Kidney - anatomy & histology | Microscopy, Interference | Animals | Water Pollutants, Chemical - toxicity | Cardiovascular Abnormalities - chemically induced | Zebrafish - metabolism | Abnormalities, Drug-Induced - etiology | Embryonic and Fetal Development - drug effects | Fluorescent Antibody Technique | Heart - drug effects | Index Medicus
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