refine search
Authors
Locations
Journals
Publication Dates
Find concepts in Knowledge Base
Explore current query
documentsstatisticstop authorclipboard
13 documents found
1: Title: Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.
Authors: Kazemi, Nima, et.al. .
Journal: Gene, 2017 .
Snippet: We also compared our findings with those related to Mucolipidosis. 14 variations were found in the three genes 3 of which, including a novel variant within intronic region of GNPTG and a heterozygous 2-bp deletion in coding region of GNPTAB, co-segregated with stuttering in the families they were found.
Affiliation: Division of Medical Genetics, Department of Clinical Biochemistry, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran; Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Developmental Neurobiology, Instituto de Neurociencias UMH-SIC, Alicante, Spain. Division of Medical Genetics, Department of Clinical Biochemistry, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address: e.sakhinia@yahoo.com. .
Related Products: order online
2: Title: Transcriptome analysis of bovine oocytes from distinct follicle sizes: Insights from correlation network analysis.
Authors: Labrecque, Rémi, et.al. .
Journal: Molecular reproduction and development (Mol Reprod Dev), Vol. 83 (6): 558-69, 2016 .
Snippet: Weighted gene correlation network analysis allowed for the identification of several hub genes involved in crucial functions such as transcriptional regulation (TAF2), chromatin remodeling (PPP1CB), energy production (SLC25A31), as well as transport of key molecules within the cell (NAGPA, CYHR1, and SLC3A12).
Affiliation: Faculté des sciences de l'Agriculture et de l'Alimentation, Département des Sciences Animales, Centre de Recherche en Biologie de la Reproduction, Pavillon INAF, Université Laval, Québec, QC, Canada. .
Related Products: order online
3: Title: Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
Authors: Raza, M Hashim, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 97 (5): 715-25, 2015 .
Snippet: We found that the μ4 subunit of AP-4 interacts with NAGPA, an enzyme involved in the synthesis of the mannose 6-phosphate signal that targets acid hydrolases to the lysosome and the product of a gene previously associated with stuttering.
Affiliation: National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA. Cell Biology and Metabolism Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA. Clinical Center Speech Language Pathology Service, NIH, Bethesda, MD 20892, USA. Institute of Chemistry, University of the Punjab, Lahore 54590, Pakistan. Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan. Alama Iqbal Medical Research Center, Lahore 54550, Pakistan. National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA. Electronic address: drayna@nidcd.nih.gov. .
Related Products: order online
4: Title: Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
Authors: Raza, M Hashim, et.al. .
Journal: European journal of human genetics : EJHG (Eur J Hum Genet), Vol. 24 (4): 529-34, 2016 .
Snippet: Recently, variants in GNPTAB, GNPTG, and the functionally related NAGPA gene have been associated with non-syndromic persistent stuttering.
Affiliation: Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, MD, USA. Hollins Communications Research Institute, Roanoke, VA, USA. Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan. Department of Molecular Biology, Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan. Department of Genetics, Sao Paulo State University, Botucatu, Brazil. .
Related Products: order online
5: Title: Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
Authors: Chen, Huan, et.al. .
Journal: BMC genetics (Bmc Genet), Vol. 16, 2015 .
Snippet: CONCLUSION: Our results revealed that the stuttering risk genes GNPTAB and NAGPA might also associate with developmental dyslexia in the Chinese population.
Affiliation: State Key Laboratory of Proteomics, Beijing Proteome Research Center, Beijing Institute of Radiation Medicine, Beijing, 102206, China. chenhuansym@163.com. National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, China. jqxu@capitalbio.com. CapitalBio Corporation, Beijing, 102206, China. jqxu@capitalbio.com. National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, China. yuxizhou@capitalbio.com. CapitalBio Corporation, Beijing, 102206, China. yuxizhou@capitalbio.com. National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, China. yonggao@capitalbio.com. CapitalBio Corporation, Beijing, 102206, China. yonggao@capitalbio.com. National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, China. gqwang@capitalbio.com. CapitalBio Corporation, Beijing, 102206, China. gqwang@capitalbio.com. National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, China. jiguangxia@capitalbio.com. CapitalBio Corporation, Beijing, 102206, China. jiguangxia@capitalbio.com. Department of Anatomy, The University of Hong Kong, Hong Kong, China. msyhuen@hku.hk. State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong, China. siok@hku.hk. School of Humanities, The University of Hong Kong, Hong Kong, China. siok@hku.hk. The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology, The Graduate School at Shenzhen, Tsinghua University, Shenzhen, China. jiangyy@sz.tsinghua.edu.cn. Neuroimaging Laboratory, Department of Biomedical Engineering, School of Medicine, Shenzhen University, Shenzhen, China. lihaitan@gmail.com. Guangdong Key Laboratory of Biomedical Information Detection and Ultrasound Imaging, Shenzhen, 518060, China. lihaitan@gmail.com. National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, China. ymsun@capitalbio.com. CapitalBio Corporation, Beijing, 102206, China. ymsun@capitalbio.com. The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology, The Graduate School at Shenzhen, Tsinghua University, Shenzhen, China. ymsun@capitalbio.com. Medical Systems Biology Research Center, Department of Biomedical Engineering, Tsinghua University School of Medicine, Beijing, China. ymsun@capitalbio.com. .
Related Products: order online
6: Title: A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.
Authors: Han, Tae-Un, et.al. .
Journal: Neurobiology of disease (Neurobiol Dis), Vol. 69, 2014 .
Snippet: This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to that of FOXP2 and CNTNAP2, suggests that the genetic neuropathological origins of stuttering differ from those of verbal dyspraxia and SLI.
Affiliation: National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA. National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA. National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA; Department of Genetics, Institute of Bioscience, São Paulo State University (UNESP), Botucatu, São Paulo 18618-000, Brazil. Department of Genetics, Institute of Bioscience, São Paulo State University (UNESP), Botucatu, São Paulo 18618-000, Brazil. National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA. Electronic address: drayna@nidcd.nih.gov. .
Related Products: order online
7: Title: A role for inherited metabolic deficits in persistent developmental stuttering.
Authors: Kang, Changsoo, et.al. .
Journal: Molecular genetics and metabolism (Mol Genet Metab), Vol. 107 (3): 276-80, 2012 .
Snippet: Although mutations in NAGPA have not been associated with a disorder in humans, mutations in GNPTAB and GNPTG cause mucolipidosis types II and III, which are rare autosomal recessive lysosomal storage disorders, associated with pathology of bone, connective tissue, liver, spleen, and brain.
Affiliation: National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA. .
Related Products: order online
8: Title: [Stuttering: effects of genes and early treatment].
Authors: Bast, Engelbert J E G, et.al. .
Journal: Nederlands tijdschrift voor geneeskunde (Ned Tijdschr Geneeskd), Vol. 155 (42): A3514, 2011 .
Snippet: The mutated genes found are GNPTAB, GNPTG and NAGPA.
Affiliation: Nederlandse Federatie Stotteren, Utrecht, the Netherlands. bbast@worldonline.nl .
Related Products: order online
9: Title: Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.
Authors: Lee, Wang-Sik, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 286 (46): 39786-93, 2011 .
Snippet: These biochemical findings extend the genetic data implicating mutations in the NAGPA gene in the persistent stuttering phenotype.
Affiliation: Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA. .
Related Products: order online
10: Title: Genetic approaches to understanding the causes of stuttering.
Authors: Drayna, Dennis, et.al. .
Journal: Journal of neurodevelopmental disorders (J Neurodev Disord), Vol. 3 (4): 374-80, 2011 .
Snippet: Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes.
Affiliation: National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2B-46, Rockville, MD, 20850, USA, drayna@nidcd.nih.gov. .
Related Products: order online
11: Title: Genetics of speech and language disorders.
Authors: Kang, Changsoo, et.al. .
Journal: Annual review of genomics and human genetics (Annu Rev Genomics Hum Genet), Vol. 12, 2011 .
Snippet: In studies of stuttering, linkage and candidate gene approaches in consanguineous families identified mutations in the lysosomal enzyme-targeting pathway genes GNPTAB, GNPTG, and NAGPA, revealing a role for inherited defects in cell metabolism in this disorder.
Affiliation: National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892, USA. .
Related Products: order online
12: Title: Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
Authors: Kang, Changsoo, et.al. .
Journal: The New England journal of medicine (N Engl J Med), Vol. 362 (8): 677-85, 2010 .
Snippet: Furthermore, we identified three mutations in the NAGPA gene, which encodes the so-called uncovering enzyme, in other affected subjects but not in control subjects.
Affiliation: National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA. .
Related Products: order online
13: Title: Effect of caesalpina bonducella seeds on blood glucose in rabbits.
Authors: Moshi, M J, et.al. .
Journal: Pharmaceutical biology (Pharm Biol), Vol. 38 (2): 81-6, 2000 .
Snippet: Following administration of 0.2, 0.4 and 0.8 g/kg body weight of the powder there was no difference in areas under the fasting blood glucose and oral glucose tolerance test (OGTT) curves as compared to controls given CMC (P > 0.05).
Related Products: order online
Documents per page: 20 | 50 | 100