Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Konstantina Heretis"'
Autor:
Christa Lese Martin, Teresa Ruffalo, David H. Ledbetter, Walter King, Konstantina Heretis, Andrew Wong, Kim Wilber
Publikováno v:
Genetics in Medicine. 7:264-271
Purpose: Genome-wide telomere screening by fluorescence in situ hybridization (FISH) has revealed that ≈ 6% of unexplained mental retardation is due to submicroscopic telomere imbalances. However, the use of FISH for telomere screening is labor int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2370954f96f40b6db35ba3131e9b144
https://doi.org/10.1097/01.gim.0000160076.14102.ec
https://doi.org/10.1097/01.gim.0000160076.14102.ec
Autor:
Konstantina Heretis, Samantha Levin, Karen A. Lapidos, Alexis R. Demonbreun, Peter Pytel, Eric C. Svensson, Elizabeth M. McNally, Rodney M. Dale
Publikováno v:
Journal of cell science. 123(Pt 14)
Ferlin proteins mediate membrane-fusion events in response to Ca2+. Myoferlin, a member of the ferlin family, is required for normal muscle development, during which it mediates myoblast fusion. We isolated both damaged and intact myofibers from a mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5243e49f862879c6c1bec342081e8a
https://pubmed.ncbi.nlm.nih.gov/20571050
https://pubmed.ncbi.nlm.nih.gov/20571050
Autor:
Avery D. Posey, Konstantina Heretis, Kayleigh A. Swaggart, Elizabeth M. McNally, Judy U. Earley, Peter Pytel, Alexis R. Demonbreun
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 24(4)
Insulin-like growth factor (IGF) is a potent stimulus of muscle growth. Myoferlin is a membrane-associated protein important for muscle development and regeneration. Myoferlin-null mice have smaller muscles and defective myoblast fusion. To understan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d55f13e7dd3a4a3efb04bea2a451c98b
https://pubmed.ncbi.nlm.nih.gov/20008164
https://pubmed.ncbi.nlm.nih.gov/20008164
Autor:
Elizabeth M. McNally, Katherine R. Doherty, Alexis R. Demonbreun, Avery D. Posey, Konstantina Heretis, Gregory Q. Wallace, Andrew Cave, Peter Pytel
Skeletal muscle is a multinucleated syncytium that develops and is maintained by the fusion of myoblasts to the syncytium. Myoblast fusion involves the regulated coalescence of two apposed membranes. Myoferlin is a membrane-anchored, multiple C2 doma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d109d7a1eae0273317db930eb91919ce
https://europepmc.org/articles/PMC2459265/
https://europepmc.org/articles/PMC2459265/
Autor:
David H. Ledbetter, Andrew Wong, Christa Lese Martin, Yesim Ilkin, Konstantina Heretis, Eric J. Vallender, Bruce T. Lahn
Publikováno v:
Genomics. 84(2)
The telomeric region of chromosome 9p is paralogous to the pericentromeric regions of chromosome 9 as well as to 2q13, the site of an ancestral telomere-telomere fusion. These paralogous regions span approximately 200 kb and contain seven transcripti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b875ad40a07b00f8660265e59d019f34
https://pubmed.ncbi.nlm.nih.gov/15233989
https://pubmed.ncbi.nlm.nih.gov/15233989
Autor:
Anthony J. Schaeffer, June Chung, David H. Ledbetter, Christa Lese Martin, Konstantina Heretis, Andrew Wong
Publikováno v:
The American Journal of Human Genetics. (6):1168-1174
Miscarriage is a condition that affects 10%–15% of all clinically recognized pregnancies, most of which occur in the first trimester. Approximately 50% of first-trimester miscarriages result from fetal chromosome abnormalities. Currently, G-banded
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9d04aa02ac26bb37d8e8cb4ae5a9042