Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rick Hemming"'
Autor:
Graeme Benzie, Kristen Bouma, Taylor Battellino, Steven Cooper, Rick Hemming, Wafa Kammouni, Lin Liu, Cuong Do, Mazdak Khajehpour, Helene Perreault, Stuart Kornfeld, Barbara Triggs-Raine, Brian L. Mark
Publikováno v:
BBA Advances, Vol 2, Iss , Pp 100032- (2022)
Tay-Sachs and Sandhoff diseases are genetic disorders resulting from mutations in HEXA or HEXB, which code for the α- and β-subunits of the heterodimer β-hexosaminidase A (HexA), respectively. Loss of HexA activity results in the accumulation of G
Externí odkaz:
https://doaj.org/article/9b74ae393dd04d81b560978a341706e6
Autor:
David C. Merz, Judith A. Hobert, Marvin R. Natowicz, Allison Chatel, Rick Hemming, Barbara Triggs-Raine
Publikováno v:
Matrix Biology. 29:494-502
Mammalian hyaluronidases degrade hyaluronan and some structurally related glycosaminoglycans. We generated a deletion mutant in the Caenorhabditis elegans orthologue of mammalian hyaluronidase, hya-1. Mutant animals are viable and grossly normal, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ab8cb39fac4c652137e955466fdcf5
https://doi.org/10.1016/j.matbio.2010.05.005
https://doi.org/10.1016/j.matbio.2010.05.005
Autor:
Marco Tartaglia, Elizabeth J. Bhoj, Hakon Hakonarson, Megan Christine Rodriguez, Emily G. Farrow, Dihong Zhou, James R. Lupski, Zeynep Coban-Akdemir, Adam Jackson, Promita Ghosh, Simone Pizzi, Giuseppe Zampino, James Fasham, Siddharth Banka, Jennifer Kussman, Olivia Wenger, Kenneth G. Zahka, Sarah E Sheppard, Roberta Onesimo, Francesca Clementina Radio, Emma L. Baple, Teresa M. Neuhann, Barbara Triggs-Raine, Emily N. Barker, Jenina E. Capasso, Kate Chandler, Barry A. Chioza, Ingrid M. Wentzensen, Alex V. Levin, Siying Lin, Lettie E. Rawlins, Isabelle Thiffault, Elaine H. Zackai, Andrew H. Crosby, Natasha Osawa, Adam C. Gunning, Rick Hemming, Dong Li, Beth Keena, Jennifer E. Posey
Publikováno v:
Genetics in Medicine
Fasham, J, Lin, S, Ghosh, P, Radio, F C, Farrow, E G, Thiffault, I, Kussman, J, Zhou, D, Hemming, R, Zahka, K, Chioza, B A, Rawlins, L E, Wenger, O K, Gunning, A C, Pizzi, S, Onesimo, R, Zampino, G, Barker, E, Osawa, N, Rodriguez, M C, Neuhann, T M, Zackai, E H, Keena, B, Capasso, J, Levin, A V, Bhoj, E, Li, D, Hakonarson, H, Wentzensen, I M, Jackson, A, Chandler, K E, Coban-Akdemir, Z H, Posey, J E, Banka, S, Lupski, J R, Sheppard, S E, Tartaglia, M, Triggs-Raine, B, Crosby, A H & Baple, E L 2021, ' Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1016/j.gim.2021.10.014
Fasham, J, Lin, S, Ghosh, P, Radio, F C, Farrow, E G, Thiffault, I, Kussman, J, Zhou, D, Hemming, R, Zahka, K, Chioza, B A, Rawlins, L E, Wenger, O K, Gunning, A C, Pizzi, S, Onesimo, R, Zampino, G, Barker, E, Osawa, N, Rodriguez, M C, Neuhann, T M, Zackai, E H, Keena, B, Capasso, J, Levin, A V, Bhoj, E, Li, D, Hakonarson, H, Wentzensen, I M, Jackson, A, Chandler, K E, Coban-Akdemir, Z H, Posey, J E, Banka, S, Lupski, J R, Sheppard, S E, Tartaglia, M, Triggs-Raine, B, Crosby, A H & Baple, E L 2021, ' Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1016/j.gim.2021.10.014
PURPOSE: We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2 knockout mice displaying similar phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e42d4e3397b915b7bee7d0ec0d2355