A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

Συγγραφείς: Banka, Siddharth, Fitzgibbon, Gregory J., Gaunt, Lorraine, Rankin, Wendy J., Clayton-Smith, Jill

Πηγή: Banka, S, Fitzgibbon, G J, Gaunt, L, Rankin, W J & Clayton-Smith, J 2011, 'A novel 800kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion', American Journal of Medical Genetics, Part A, vol. 155, no. 6, pp. 1453-1457. https://doi.org/10.1002/ajmg.a.34034
Banka, S, Fitzgibbon, G J, Gaunt, L, Rankin, W J & Clayton-Smith, J 2011, 'A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion', American Journal of Medical Genetics, Part A, vol. 155A, no. 6, pp. 1453-1457.

Θεματικοί όροι: Adult, Male, 0301 basic medicine, Learning difficulties, Adolescent, SNTB2, Learning disabilities/pathology, 15q13 deletion, Chromosome Disorders, Epilepsy/pathology, Epilepsy/genetics, 03 medical and health sciences, Learning disabilities/genetics, Chromosome Duplication, Humans, Tapering fingers, Obesity, Short toes, Child, Chromosome disorders, 16q22 duplication, Chromosomes, Human, Pair 15, 0303 health sciences, Epilepsy, Learning Disabilities, Second-hit hypothesis, Pedigree, Chromosome deletion, WWP2, Phenotype, Female, Chromosome Deletion, Chromosomes, Human, Pair 16

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/21574246
https://research.manchester.ac.uk/en/publications/a0b36879-2dad-4b21-b2ae-8e869ddeacef
https://europepmc.org/article/MED/21574246
https://www.research.manchester.ac.uk/portal/en/publications/a-novel-800-kb-microduplication-of-chromosome-16q221-resulting-in-learning-disability-and-epilepsy-may-explain-phenotypic-variability-in-a-family-with-15q13-microdeletion(a0b36879-2dad-4b21-b2ae-8e869ddeacef).html
https://www.ncbi.nlm.nih.gov/pubmed/21574246
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.34034/abstract
https://www.escholar.manchester.ac.uk/uk-ac-man-scw:132992
https://pubmed.ncbi.nlm.nih.gov/21574246/

Amyloid-β 1-24 C-terminal truncated fragment promotes amyloid-β 1-42 aggregate formation in the healthy brain.

Συγγραφείς: Mazzitelli, Sonia, Filipello, Fabia, Matteoli, Michela, Rasile, Marco, Lauranzano, Eliana, Starvaggi-Cucuzza, Chiara, Tamborini, Matteo, Pozzi, Davide, Barajon, Isabella, Giorgino, Toni, Natalello, Antonino

Πηγή: Acta Neuropathologica Communications 4(1), 110 (2016). doi:10.1186/s40478-016-0381-9

Θεματικοί όροι: info:eu-repo/classification/ddc/610, Alzheimer Disease: metabolism, Alzheimer Disease: pathology, Amyloid beta-Peptides: administration & dosage, Amyloid beta-Peptides: metabolism, Animals, Brain: metabolism, Brain: pathology, Disease Models, Animal, Humans, Learning Disabilities: metabolism, Learning Disabilities: pathology, Matrix Metalloproteinase 9: genetics, Matrix Metalloproteinase 9: metabolism, Memory Disorders: metabolism, Memory Disorders: pathology, Mice, Inbred BALB C, Inbred C57BL, Knockout, Transgenic, Microglia: metabolism, Microglia: pathology, Motor Activity: physiology, Peptide Fragments: administration & dosage, Peptide Fragments: metabolism, Plaque, Amyloid: metabolism, Amyloid: pathology

Θέμα γεωγραφικό: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:27724899; info:eu-repo/semantics/altIdentifier/issn/2051-5960; https://pub.dzne.de/record/138852

Διαθεσιμότητα: https://pub.dzne.de/record/138852
https://pub.dzne.de/search?p=id:%22DZNE-2020-05174%22

Elevated levels of plasma homocysteine, deficiencies in dietary folic acid and uracil-DNA glycosylase impair learning in a mouse model of vascular cognitive impairment.

Συγγραφείς: Jadavji, Nafisa M, Farr, Tracy D, Lips, Janet, Khalil, Ahmed A, Boehm-Sturm, Philipp, Foddis, Marco, Harms, Christoph, Füchtemeier, Martina, Dirnagl, Ulrich

Πηγή: Behavioural brain research 283, 215-226 (2015). doi:10.1016/j.bbr.2015.01.040

Θεματικοί όροι: info:eu-repo/classification/ddc/610, Animals, Basilar Artery: pathology, Basilar Artery: physiopathology, Brain: blood supply, Brain: pathology, Brain: physiopathology, Carotid Artery Diseases, Cerebrovascular Disorders: pathology, Cerebrovascular Disorders: physiopathology, Chronic Disease, Cognition Disorders: pathology, Cognition Disorders: physiopathology, Diet, Disease Models, Animal, Female, Folic Acid Deficiency: pathology, Folic Acid Deficiency: physiopathology, Glial Fibrillary Acidic Protein, Gliosis: pathology, Gliosis: physiopathology, Homocysteine: blood, Learning Disabilities: pathology, Learning Disabilities: physiopathology, Male, Matrix Metalloproteinase 9: metabolism, Maze Learning: physiology, Mice, Inbred C57BL

Θέμα γεωγραφικό: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1872-7549; info:eu-repo/semantics/altIdentifier/issn/0166-4328; info:eu-repo/semantics/altIdentifier/pmid/pmid:25655513; https://pub.dzne.de/record/137854

Διαθεσιμότητα: https://pub.dzne.de/record/137854
https://pub.dzne.de/search?p=id:%22DZNE-2020-04176%22