Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Rohini Dhulipala"'
Autor:
Richie Khanna, Allan C Powe, Yi Lun, Rebecca Soska, Jessie Feng, Rohini Dhulipala, Michelle Frascella, Anadina Garcia, Lee J Pellegrino, Su Xu, Nastry Brignol, Matthew J Toth, Hung V Do, David J Lockhart, Brandon A Wustman, Kenneth J Valenzano
Publikováno v:
PLoS ONE, Vol 9, Iss 7, p e102092 (2014)
Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-glucosidase (GAA) activity due to mutations in the GAA gene. Pompe disease is characterized by accumulation of lysosomal glycogen primarily in heart an
Externí odkaz:
https://doaj.org/article/72b07734ee0446d5b4528055bccd9d8a
Autor:
Kenneth J. Valenzano, Richie Khanna, Rohini Dhulipala, Nastry Brignol, Yi Lun, David J. Lockhart, Su Xu, Hung V. Do, Rebecca Soska, Michelle Frascella, Brandon Wustman, Jessie Feng, Lee Pellegrino, Anadina Garcia, Matthew J. Toth, Allan C. Powe
Publikováno v:
PLoS ONE
PLoS ONE, Vol 9, Iss 7, p e102092 (2014)
PLoS ONE, Vol 9, Iss 7, p e102092 (2014)
Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-glucosidase (GAA) activity due to mutations in the GAA gene. Pompe disease is characterized by accumulation of lysosomal glycogen primarily in heart an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69b00c6eba47c4a8cfa1defe00506616
https://pubmed.ncbi.nlm.nih.gov/25036864
https://pubmed.ncbi.nlm.nih.gov/25036864
Autor:
Cathryn Crego, Jonathan Lipsky, Johan Wahlberg, Martin A. Smith, Scott Duthie, Rohini Dhulipala, James C. Davis, Ali Chaudry, Peter Hewitt, Dan Collins, Duane Romana, Haiying Wang
Publikováno v:
membrane. 25:206-210
A unique new method is described showing the use of microfiltration and ultrafiltration membranes in conjunction with gel permeation in 96 well plates. Using this technique it is possible to clean up DNA sequencing reactions to a level of template DN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::356f1fdddab63dfc869c406de038d0c8
https://doi.org/10.5360/membrane.25.206
https://doi.org/10.5360/membrane.25.206
Publikováno v:
Human Genetics. 102:549-556
Mutational analysis of cancer susceptibility genes has opened up a new era in clinical genetics. In this report we present the results of mutational analysis of the BRCA2 coding sequences in 105 high-risk individuals affected with breast cancer and/o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e55706fb8a3ec8dc05377574780d4b14
https://doi.org/10.1007/s004390050738
https://doi.org/10.1007/s004390050738
Autor:
Machiko Arita, Boris P. Sokolov, Jaspal S. Khillan, Rohini Dhulipala, Darwin J. Prockop, Leena Ala-Kokko
Publikováno v:
Journal of Biological Chemistry. 270:9622-9629
Inconsistent data have been reported on the size of the promoter that is necessary for high levels of tissue-specific expression of the COL1A1 gene for type I procollagen. Some of the inconsistencies may be traced to the use of reporter gene construc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f101f3864c38f8bf226eb66533a950c
https://doi.org/10.1074/jbc.270.16.9622
https://doi.org/10.1074/jbc.270.16.9622
Autor:
Rohini Dhulipala, Arupa Ganguly, Andrew M. Marshall, Kevin Leahy, Tapan Ganguly, Lynn Godmilow
Publikováno v:
Genetic testing. 1(2)
Genetic testing for breast cancer susceptibility became a reality after two cancer predisposition genes, BRCA1 and BRCA2, were identified. Mutations in these two genes were predicted to account for 85% to 90% of hereditary breast and ovarian cancer s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd640cd85c2aa8733ece22566d4d4c5f
https://pubmed.ncbi.nlm.nih.gov/10464631
https://pubmed.ncbi.nlm.nih.gov/10464631