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Investigating Developmental Milestones and Adult Behavior in a Mammalian Model of Fetal Alcohol Spectrum Disorder (FASD)
Mark A Nagy
Jan 01, 0001
Prenatal exposure to ethanol can result in an abundance of psychological, physical and developmental impairments that can alter the behavioral and cognitive abilities of an organism and can cause long-lasting developmental...
Fetal Alcohol Spectrum Disorder FASD Swiss Webster mice Drinking in the Dark paradigm prenatal ethanol exposure Behavior development mouse model Developmental Neuroscience Life Sciences Neuroscience and Neurobiology
Published by: Ursinus College
Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome.
Claudia Russo, Christian Osterburg, Anna Sirico, Dario Antonini, Raffaele Ambrosio, Julia Maren Würz, Jörg Rinnenthal, Marco Ferniani, Sebastian Kehrloesser, Birgit Schäfer, Peter Güntert, Satrajit Sinha, Volker Dötsch, Caterina Missero
Aug 31, 2018
AEC syndrome mouse model p63 protein aggregation Skin Animals Cleft Lip Cleft Palate Ectoderm Eye Abnormalities Frameshift Mutation HEK293 Cells Heterozygote Humans Mice Mutation Mutation Missense Phosphoproteins Protein Binding Protein Denaturation Skin Trans-Activators Transcription Factors Transcription Genetic Tumor Suppressor Proteins
αE-catenin is a candidate tumor suppressor for the development of E-cadherin-expressing lobular-type breast cancer.
Jolien S de Groot, Max Ak Ratze, Miranda van Amersfoort, Tanja Eisemann, Eva J Vlug, Mijanou T Niklaas, Suet-Feung Chin, Carlos Caldas, Paul J van Diest, Jos Jonkers, Johan de Rooij, Patrick WB Derksen
Sep 10, 2018
Although mutational inactivation of E-cadherin (CDH1) is the main driver of invasive lobular breast cancer (ILC), approximately 10-15% of all ILCs retain membrane-localized E-cadherin despite the presence of an apparent...
E-cadherin Rho/Rock lobular breast cancer mouse model α-catenin (CTNNA1) Actomyosin Adherens Junctions Animals Anoikis Antigens CD Breast Neoplasms Cadherins Carcinoma Lobular Cell Adhesion Cell Proliferation Cell Shape Female Gene Expression Regulation Neoplastic Genetic Predisposition to Disease Humans MCF-7 Cells Mice Knockout Mutation Neoplasm Invasiveness Phenotype Signal Transduction Tumor Suppressor Protein p53 Tumor Suppressor Proteins alpha Catenin rho GTP-Binding Proteins rho-Associated Kinases
A high-throughput platform for detailed lipidomic analysis of a range of mouse and human tissues
Samuel Furse, Denise S. Fernandez-Twinn, Benjamin Jenkins, Claire L. Meek, Huw E. L. Williams, Gordon C. S. Smith, D. Stephen Charnock-Jones, Susan E. Ozanne, Albert Koulman
Jun 06, 2020
Abstract: Lipidomics is of increasing interest in studies of biological systems. However, high-throughput data collection and processing remains non-trivial, making assessment of phenotypes difficult. We describe a platform for...
Accelerated Wound Healing Using a Novel Far-Infrared Ceramic Blanket
Frederick Robert Carrick, Luis Sebastian Alexis Valerio, Maxine N. Gonzalez-Vega, David Engel, Kiminobu Sugaya
Aug 28, 2021
Introduction: Wounds are associated with ranges of simple to complex disruption or damage to anatomical structure and function. They are also associated with enormous economic and social costs, increasing yearly, resulting in a...
Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.
Lee Moir, Elena G Bochukova, Rebecca Dumbell, Gareth Banks, Rasneer S Bains, Patrick M Nolan, Cheryl Scudamore, Michelle Simon, Kimberly A Watson, Julia Keogh, Elana Henning, Audrey Hendricks, Stephen O'Rahilly, Inês Barroso, UK10K consortium, Adrienne E Sullivan, David C Bersten, Murray L Whitelaw, Susan Kirsch, Elizabeth Bentley, I Sadaf Farooqi, Roger D Cox
Jan 24, 2018
OBJECTIVE: Genetic studies in obese rodents and humans can provide novel insights into the mechanisms involved in energy homeostasis. METHODS: In this study, we genetically mapped the chromosomal region underlying the...
Energy balance Human mutation mouse model OTP obesity Oxytocin vasopressin Amino Acid Sequence Animals Anxiety Base Sequence Brain Chromosome Mapping Databases Genetic Female Gene Expression Gene Expression Regulation Developmental Genes Homeobox Homeodomain Proteins Humans Hypothalamus Male Mice Nerve Tissue Proteins Neurosecretory Systems obesity Transcription Factors Transcriptome
Accelerated Wound Healing Using a Novel Far-Infrared Ceramic Blanket.
Frederick Robert Carrick, Luis Sebastian Alexis Valerio, Maxine N Gonzalez-Vega, David Engel, Kiminobu Sugaya
Oct 29, 2021
INTRODUCTION: Wounds are associated with ranges of simple to complex disruption or damage to anatomical structure and function. They are also associated with enormous economic and social costs, increasing yearly, resulting in a...
TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.
Emanuela Bottani, Raffaele Cerutti, Michael E Harbour, Sabrina Ravaglia, Sukru Anil Dogan, Carla Giordano, Ian M Fearnley, Giulia D'Amati, Carlo Viscomi, Erika Fernandez-Vizarra, Massimo Zeviani
Jun 27, 2018
Rieske protein TTC19 UQCRFS1 complex III deficiency mitochondrial complex III mitochondrial disease mitochondrial quality control mitochondrial respiratory chain mouse model Animals Behavior Animal Disease Models Animal Electron Transport Complex III Female Genotype HeLa Cells Humans Iron-Sulfur Proteins Kinetics Male Membrane Proteins Mice Inbred C57BL Mice Knockout Mitochondria Mitochondrial Diseases Mitochondrial Proteins Motor Activity Nerve Degeneration Nervous System Phenotype Protein Binding Protein Stability Proteolysis Reactive Oxygen Species
Lipid Metabolism Is Dysregulated before, during and after Pregnancy in a Mouse Model of Gestational Diabetes
Samuel Furse, Denise S. Fernandez-Twinn, Davide Chiarugi, Albert Koulman, Susan E. Ozanne
Jul 28, 2021
The aim of the current study was to test the hypothesis that maternal lipid metabolism was modulated during normal pregnancy and that these modulations are altered in gestational diabetes mellitus (GDM). We tested this...
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Neringa Jurkute, Michele Bertacchi, Gavin Arno, Chiara Tocco, Ungsoo Samuel Kim, Adam M Kruszewski, Robert A Avery, Emma C Bedoukian, Jinu Han, Sung Jun Ahn, Nikolas Pontikos, James Acheson, Indran Davagnanam, Richard Bowman, Marios Kaliakatsos, Alice Gardham, Emma Wakeling, Ngozi Oluonye, Maddy Ashwin Reddy, Elaine Clark, Elisabeth Rosser, Patrizia Amati-Bonneau, Majida Charif, Guy Lenaers, Isabelle Meunier, Sabine Defoort, Catherine Vincent-Delorme, Anthony G Robson, Graham E Holder, Luc Jeanjean, Antonio Martinez-Monseny, Mariona Vidal-Santacana, Chloé Dominici, Cedric Gaggioli, Nadia Giordano, Matteo Caleo, Grant T Liu, Genomics England Research Consortium, Andrew R Webster, Michèle Studer, Patrick Yu-Wai-Man
Jul 19, 2021
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the...
Increase in Tau Pathology in P290S Mapt Knock-In Mice Crossed with App NL-G-F Mice.
Melissa Huang, Jennifer Macdonald, Isabelle Lavenir, Renren Chen, Molly Craxton, Elizabeth Slavik-Smith, Stephen W Davies, Michel Goedert
Feb 12, 2023
Alzheimer's Disease (AD) is characterized by the pathologic assembly of amyloid β (Aβ) peptide, which deposits into extracellular plaques, and tau, which accumulates in intraneuronal inclusions. To investigate the link between...
A high-throughput platform for detailed lipidomic analysis of a range of mouse and human tissues.
Samuel Furse, Denise S Fernandez-Twinn, Benjamin Jenkins, Claire L Meek, Huw EL Williams, Gordon CS Smith, D Stephen Charnock-Jones, Susan E Ozanne, Albert Koulman
Feb 13, 2020
A De Novo Mouse Model of C11orf95-RELA Fusion-Driven Ependymoma Identifies Driver Functions in Addition to NF-κB.
Tatsuya Ozawa, Sonali Arora, Frank Szulzewsky, Gordana Juric-Sekhar, Yoshiteru Miyajima, Hamid Bolouri, Yoshie Yasui, Jason Barber, Robert Kupp, James Dalton, Terreia S Jones, Mitsutoshi Nakada, Toshihiro Kumabe, David W Ellison, Richard J Gilbertson, Eric C Holland
Sep 21, 2018
The majority of supratentorial ependymomas (ST-ependymomas) have few mutations but frequently display chromothripsis of chromosome 11q that generates a fusion between C11orf95 and RELA (RELAFUS). Neural stem cells transduced...
Depopulation of dense α-synuclein aggregates is associated with rescue of dopamine neuron dysfunction and death in a new Parkinson's disease model.
Michal Wegrzynowicz, Dana Bar-On, Laura Calo', Oleg Anichtchik, Mariangela Iovino, Jing Xia, Sergey Ryazanov, Andrei Leonov, Armin Giese, Jeffrey W Dalley, Christian Griesinger, Uri Ashery, Maria Grazia Spillantini
Jun 06, 2020
Parkinson's disease (PD) is characterized by the presence of α-synuclein aggregates known as Lewy bodies and Lewy neurites, whose formation is linked to disease development. The causal relation between α-synuclein aggregates and...
ALPHA-SYNUCLEIN Anle138b mouse model Parkinson’s disease Striatum Substantia Nigra dSTORM Animals Cell Death Disease Models Animal Dopaminergic Neurons Gait Mice Mice Transgenic Motor Activity Parkinson Disease protein aggregation Pathological Substantia Nigra Tyrosine 3-Monooxygenase ALPHA-SYNUCLEIN
Investigating Developmental Milestones and Adult Behavior in a Mammalian Model of Fetal Alcohol Spectrum Disorder (FASD)
Daniel M Pineda
Jan 01, 0001
Prenatal exposure to ethanol can result in an abundance of psychological, physical and developmental impairments that can alter the behavioral and cognitive abilities of an organism and can cause long-lasting developmental...
Fetal Alcohol Spectrum Disorder (FASD) mouse model Drinking in the Dark paradigm Swiss Webster mice prenatal ethanol exposure Developmental Neuroscience Life Sciences Neuroscience and Neurobiology
Published by: Ursinus College
Early detection of pre-malignant lesions in a KRASG12D-driven mouse lung cancer model by monitoring circulating free DNA.
Callum P Rakhit, Ricky M Trigg, John Le Quesne, Michael Kelly, Jacqueline A Shaw, Catrin Pritchard, L Miguel Martins
Feb 07, 2019
Circulating free DNA Early detection KRASG12D Lung adenocarcinoma mouse model cfDNA Alleles Animals Cell-Free Nucleic Acids Disease Models Animal Early Detection of Cancer Female Integrases Lung Neoplasms Male Mice Inbred C57BL Mutation Precancerous Conditions Proto-Oncogene Proteins p21(ras) Recombination Genetic Reproducibility of Results Tumor Burden X-Ray Microtomography
A high-throughput platform for detailed lipidomic analysis of a range of mouse and human tissues
Samuel Furse, Denise S. Fernandez-Twinn, Benjamin Jenkins, Claire L. Meek, Huw E. L. Williams, Gordon C. S. Smith, D. Stephen Charnock-Jones, Susan E. Ozanne, Albert Koulman
Mar 07, 2021
Abstract: Lipidomics is of increasing interest in studies of biological systems. However, high-throughput data collection and processing remains non-trivial, making assessment of phenotypes difficult. We describe a platform for...
Lipid Metabolism Is Dysregulated before, during and after Pregnancy in a Mouse Model of Gestational Diabetes.
Samuel Furse, Denise S Fernandez-Twinn, Davide Chiarugi, Albert Koulman, Susan E Ozanne
Aug 26, 2021
The aim of the current study was to test the hypothesis that maternal lipid metabolism was modulated during normal pregnancy and that these modulations are altered in gestational diabetes mellitus (GDM). We tested this...
Lipid Metabolism hyperglycaemia Gestational diabetes mouse model lipidomics lipid traffic analysis Animals Mice Diabetes Gestational obesity Blood Glucose Lipids Glucose Tolerance Test Pregnancy Female Lipid Metabolism
Published by: International journal of molecular sciences
Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Neringa Jurkute, Michele Bertacchi, Gavin Arno, Chiara Tocco, Ungsoo Samuel Kim, Adam M Kruszewski, Robert A Avery, Emma C Bedoukian, Jinu Han, Sung Jun Ahn, Nikolas Pontikos, James Acheson, Indran Davagnanam, Richard Bowman, Marios Kaliakatsos, Alice Gardham, Emma Wakeling, Ngozi Oluonye, Maddy Ashwin Reddy, Elaine Clark, Elisabeth Rosser, Patrizia Amati-Bonneau, Majida Charif, Guy Lenaers, Isabelle Meunier, Sabine Defoort, Catherine Vincent-Delorme, Anthony G Robson, Graham E Holder, Luc Jeanjean, Antonio Martinez-Monseny, Mariona Vidal-Santacana, Chloé Dominici, Cedric Gaggioli, Nadia Giordano, Matteo Caleo, Grant T Liu, Andrew R Webster, Michèle Studer, Patrick Yu-Wai-Man
Oct 02, 2021
Published by: Brain communications
Lipid Metabolism Is Dysregulated before, during and after Pregnancy in a Mouse Model of Gestational Diabetes.
Samuel Furse, Denise S Fernandez-Twinn, Davide Chiarugi, Albert Koulman, Susan E Ozanne
Jul 08, 2021
KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference.
G Schumann, C Liu, P O'Reilly, H Gao, P Song, B Xu, B Ruggeri, N Amin, T Jia, S Preis, M Segura Lepe, S Akira, C Barbieri, S Baumeister, S Cauchi, T-K Clarke, S Enroth, K Fischer, J Hällfors, SE Harris, S Hieber, E Hofer, J-J Hottenga, Å Johansson, PK Joshi, N Kaartinen, J Laitinen, R Lemaitre, A Loukola, J Luan, L-P Lyytikäinen, M Mangino, A Manichaikul, H Mbarek, Y Milaneschi, A Moayyeri, K Mukamal, C Nelson, J Nettleton, E Partinen, R Rawal, A Robino, L Rose, C Sala, T Satoh, R Schmidt, K Schraut, R Scott, AV Smith, JM Starr, A Teumer, S Trompet, AG Uitterlinden, C Venturini, A-C Vergnaud, N Verweij, V Vitart, D Vuckovic, J Wedenoja, L Yengo, B Yu, W Zhang, JH Zhao, DI Boomsma, J Chambers, DI Chasman, T Daniela, E de Geus, I Deary, JG Eriksson, T Esko, V Eulenburg, OH Franco, P Froguel, C Gieger, HJ Grabe, V Gudnason, U Gyllensten, TB Harris, A-L Hartikainen, AC Heath, L Hocking, A Hofman, C Huth, M-R Jarvelin, JW Jukema, J Kaprio, JS Kooner, Z Kutalik, J Lahti, C Langenberg, T Lehtimäki, Y Liu, PAF Madden, N Martin, A Morrison, B Penninx, N Pirastu, B Psaty, O Raitakari, P Ridker, R Rose, JI Rotter, NJ Samani, H Schmidt, TD Spector, D Stott, D Strachan, I Tzoulaki, P van der Harst, CM van Duijn, P Marques-Vidal, P Vollenweider, NJ Wareham, JB Whitfield, J Wilson, B Wolffenbuttel, G Bakalkin, E Evangelou, Y Liu, KM Rice, S Desrivières, SA Kliewer, DJ Mangelsdorf, CP Müller, D Levy, P Elliott
Feb 16, 2017
Excessive alcohol consumption is a major public health problem worldwide. Although drinking habits are known to be inherited, few genes have been identified that are robustly linked to alcohol drinking. We conducted a...
Fetal growth restriction in a genetic model of sporadic Beckwith-Wiedemann syndrome.
Beckwith–Wiedemann syndrome fetal growth restriction mouse model Placentomegaly Animals Basic Helix-Loop-Helix Transcription Factors Beckwith-Wiedemann syndrome Biomarkers Cell Lineage Disease Models Animal Embryo Loss Female Fetal Growth Retardation Fetus Gene Expression Regulation Developmental Glycogen Mice Models Genetic Placenta Pregnancy Trophoblasts
Myopia disease mouse models
Katarzyna I Szczerkowska, Silvia Petrezselyova, Jiri Lindovsky, Marcela Palkova, Jan Dvorak, Peter Makovicky, Mingyan Fang, Chongyi Jiang, Lingyan Chen, Mingming Shi, Xiao Liu, Jianguo Zhang, Agnieszka Kubik-Zahorodna, Bjoern Schuster, Inken M Beck, Vendula Novosadova, Jan Prochazka, Radislav Sedlacek
Feb 24, 2020
Zinc finger 644 (Zfp644 in mouse, ZNF644 in human) gene is a transcription factor whose mutation S672G is considered a potential genetic factor of inherited high myopia. ZNF644 interacts with G9a/GLP complex, which functions as...
Opportunities and Challenges in Functional Genomics Research in Osteoporosis
Jonathan H Tobias, Emma L Duncan, Erika Kague, Chrissy L Hammond, Celia L Gregson, Duncan Bassett, Graham R Williams, Josine L Min, Tom R Gaunt, David Karasik, Claes Ohlsson, Fernando Rivadeneira, James R Edwards, Fadil M Hannan, John P Kemp, Sophie J Gilbert, Nerea Alonso, Neelam Hassan, Juliet E Compston, Stuart H Ralston
Mar 15, 2021
The discovery that sclerostin is the defective protein underlying the rare heritable bone mass disorder, sclerosteosis, ultimately led to development of anti-sclerostin antibodies as a new treatment for osteoporosis. In the era...
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