Zobrazeno 1 - 10
of 125
pro vyhledávání: '"Stephen G. Kaler"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)
Abstract Background Trisomy 20p is a rare genetic condition caused by a duplication of the short arm of chromosome 20. Methods We employed clinical observation and molecular genetic testing (SNP microarray), to study identical twin males with an unkn
Externí odkaz:
https://doaj.org/article/1083c9a7fcfb436c9f73523afc8725b6
Autor:
Jacqueline E. Hunter, Caitlyn M. Molony, Jessica H. Bagel, Patricia A. O’Donnell, Stephen G. Kaler, John H. Wolfe
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 384-393 (2022)
Multiple studies have examined the transduction characteristics of different AAV serotypes in the mouse brain, where they can exhibit significantly different patterns of transduction. The pattern of transduction also varies with the route of administ
Externí odkaz:
https://doaj.org/article/0a1656607a9844baa60b21f7aa32d924
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100602- (2020)
Background: Previous estimates of the prevalence of Menkes disease, a lethal X-linked recessive disorder of copper metabolism, were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507. W
Externí odkaz:
https://doaj.org/article/f4f7a102b1e34c10972e8b7e6ac86360
Autor:
Richard B. Parad, Stephen G. Kaler, Evan Mauceli, Tanya Sokolsky, Ling Yi, Arindam Bhattacharjee
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100625- (2020)
Purpose: Population-based newborn screening (NBS) allows early detection and treatment of inherited disorders. For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detectio
Externí odkaz:
https://doaj.org/article/eccee17972114816b93ef2a68be4fe70
Autor:
Marie Reine Haddad, Eun-Young Choi, Patricia M. Zerfas, Ling Yi, Diego Martinelli, Patricia Sullivan, David S. Goldstein, Jose A. Centeno, Lauren R. Brinster, Martina Ralle, Stephen G. Kaler
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 10, Iss , Pp 165-178 (2018)
Menkes disease is a lethal neurodegenerative disorder of copper metabolism caused by mutations in an evolutionarily conserved copper transporter, ATP7A. Based on our prior clinical and animal studies, we seek to develop a therapeutic approach suitabl
Externí odkaz:
https://doaj.org/article/a4cc1ab740b44d4f9ac2ad5537b6c26f
Autor:
Spyros, Batzios, Galit, Tal, Andrew T, DiStasio, Yanyan, Peng, Christiana, Charalambous, Paola, Nicolaides, Erik-Jan, Kamsteeg, Stanley H, Korman, Hanna, Mandel, Peter J, Steinbach, Ling, Yi, Summer R, Fair, Mark E, Hester, Anthi, Drousiotou, Stephen G, Kaler
Publikováno v:
Human Molecular Genetics. 31:4121-4130
The high-affinity copper transporter CTR1 is encoded by CTR1 (SLC31A1), a gene locus for which no detailed genotype–phenotype correlations have previously been reported. We describe identical twin male infants homozygous for a novel missense varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b746f24ea60c92475c8e98970568515
https://doi.org/10.1093/hmg/ddac156
https://doi.org/10.1093/hmg/ddac156
Autor:
Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan
Publikováno v:
PLoS Genetics, Vol 15, Iss 5, p e1008143 (2019)
Maintenance of the correct redox status of iron is functionally important for critical biological processes. Multicopper ferroxidases play an important role in oxidizing ferrous iron, released from the cells, into ferric iron, which is subsequently d
Externí odkaz:
https://doaj.org/article/8434e917264b45e197052e868151132b
Autor:
Jacqueline E. Hunter, Caitlyn M. Molony, Jessica H. Bagel, Patricia A. O’Donnell, Stephen G. Kaler, John H. Wolfe
Publikováno v:
Molecular therapy. Methodsclinical development. 26
Multiple studies have examined the transduction characteristics of different AAV serotypes in the mouse brain, where they can exhibit significantly different patterns of transduction. The pattern of transduction also varies with the route of administ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e2dbf54610e0d6279d7970e38f218fd
https://pubmed.ncbi.nlm.nih.gov/36034772
https://pubmed.ncbi.nlm.nih.gov/36034772
Autor:
Esko A, Kautto, Kathleen M, Schieffer, Sean, McGrath, Anthony R, Miller, Maria Elena, Hernandez-Gonzalez, Samantha, Choi, Miriam R, Conces, Esteban, Fernandez-Faith, Mai-Lan, Ho, Kristy, Lee, Anna P, Lillis, Gregory D, Pearson, Stephen G, Kaler, Richard K, Wilson, Elaine R, Mardis, Vincent, Magrini, Jeffrey, Leonard, Catherine E, Cottrell
Publikováno v:
Cold Spring Harbor molecular case studies. 8(2)
Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e01ed2f7ce09268dc0ed462075856316
https://pubmed.ncbi.nlm.nih.gov/35149534
https://pubmed.ncbi.nlm.nih.gov/35149534