Zobrazeno 1 - 10 of 22 pro vyhledávání: '"Megan L. Landsverk"'
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Akademický článek
A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies
Autor: Megan L. Landsverk, Victor Wei Zhang, Lee-Jun C. Wong, Hans C. Andersson
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 451-454 (2014)
Defects in two subunits of succinate-CoA ligase encoded by the genes SUCLG1 and SUCLA2 have been identified in mitochondrial DNA (mtDNA) depletion syndromes. Patients generally present with encephalomyopathy and mild methylmalonic acidemia (MMA), how
Externí odkaz: https://doaj.org/article/7c05f3fc08434b5397e5312071f49562
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2
Akademický článek
Mutation in GM2A Leads to a Progressive Chorea-Dementia Syndrome
Autor: Mustafa A. Salih, Mohammed Z. Seidahmed, Heba Y. El Khashab, Muddathir H. Hamad, Thomas M. Bosley, Sabrina Burn, Angela Myers, Megan L. Landsverk, Patricia L. Crotwell, Kaya Bilguvar, Shrikant Mane, Michael C. Kruer
Publikováno v: Tremor and Other Hyperkinetic Movements, Vol 5 (2015)
Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes. Methods: We report a Saudi family
Externí odkaz: https://doaj.org/article/a4dfd5789c5648738246a332b1f88dac
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3
Interpretation of mitochondrial tRNA variants
Autor: Sha Tang, Victor Wei Zhang, Megan L. Landsverk, William J. Craigen, Shulin Zhang, Fangyuan Li, Eric S. Schmitt, Yue Wang, Lee-Jun C. Wong, Jing Wang, Ting Chen
Publikováno v: Genetics in Medicine. 22:917-926
To develop criteria to interpret mitochondrial transfer RNA (mt-tRNA) variants based on unique characteristics of mitochondrial genetics and conserved structural/functional properties of tRNA. We developed rules on a set of established pathogenic/ben
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0bd11c198a51ccc223ab29684be3c5c6
https://doi.org/10.1038/s41436-019-0746-0
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6
Delivering Precision Oncology in a Community Cancer Program: Results From a Prospective Observational Study
Autor: John Reynolds, Michael D. Keppen, Chun-Hung Chan, Rachel Anhorn, Shelby A. Terstriep, Morgan E. Nelson, Anu G. Gaba, Elie G. Dib, Mark M. Gitau, Megan L. Landsverk, Jonathan Bleeker, James M. Ford, Preston D. Steen, Lora Jane Black, Keely Marie Hack, Steven Francis Powell, Miroslaw Mazurczak, Paul M. Thompson, Jon Chung, Christie Ellison
Publikováno v: JCO Precision Oncology. :1-12
Introduction Precision oncology (PO) is a growing treatment approach in the era of next-generation sequencing (NGS) and matched therapies. Effective delivery of PO in the community has not been extensively studied. Our program developed a virtual mol
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef7d15e09b7ef991a01a00d3d112edaf
https://doi.org/10.1200/po.17.00220
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8
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy
Autor: Megan L. Landsverk, Dana M. Knutzen, Richard K. Olney, Elizabeth K. Ruzzo, Patrick F. Chinnery, Karen Barnett, Angela M. B. Collie, Gareth Parry, Sabrina W. Yum, Robert H. Brown, Jonathan Adkins, Heather C Mefford, Karen Buysse, Phillip F. Chance, Evan E. Eichler, David Simpson, Mark C. Hannibal
Publikováno v: Journal of Medical Genetics, 47, 601-7
Journal of Medical Genetics, 47, 9, pp. 601-7
Item does not contain fulltext BACKGROUND: Genomic copy number variants have been shown to be responsible for multiple genetic diseases. Recently, a duplication in septin 9 (SEPT9) was shown to be causal for hereditary neuralgic amyotrophy (HNA), an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27521b5155fa6a8ed162c03a314370b3
https://doi.org/10.1136/jmg.2009.072348
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9
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy
Autor: S. Lovitt, Thomas D. Bird, Karen Barnett, L. R. Miller, Stanley H. Appel, Alexis Brice, Elizabeth K. Ruzzo, Eric LeGuern, Eva Andermann, B. B. Worrall, Phillip F. Chance, H. M. Bedford, Megan L. Landsverk, B. Betz, Jillian G. Buchan, Mark C. Hannibal, Dana M. Knutzen
Publikováno v: Neurology. 72:1755-1759
Background: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA maps to chromosome 17q25.3 where mutations in SEPT9 , encoding the septin-9 prote
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01768cce8b88bcb66faf0bdca5b4bf6b
https://doi.org/10.1212/wnl.0b013e3181a609e3
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10
Requirement of Inositol 1,4,5-Trisphosphate Receptors for Tumor-mediated Lymphocyte Apoptosis
Autor: José M. Barral, Darren Boehning, Megan L. Landsverk, Camia Steinmann
Publikováno v: Journal of Biological Chemistry. 283:13506-13509
Tumor cells strategically down-regulate Fas receptor expression to evade immune attack and up-regulate expression of Fas ligand to promote apoptosis of infiltrating T lymphocytes. Many pathways leading to apoptotic cell death require calcium release
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95c8b7d4469c15eb726c561cb3eec3b9
https://doi.org/10.1074/jbc.c800029200
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