Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Janna Brusky"'
Autor:
Jiafen Gong, Gengming He, Cheng Wang, Claire Bartlett, Naim Panjwani, Scott Mastromatteo, Fan Lin, Katherine Keenan, Julie Avolio, Anat Halevy, Michelle Shaw, Mohsen Esmaeili, Guillaume Côté-Maurais, Damien Adam, Stéphanie Bégin, Candice Bjornson, Mark Chilvers, Joe Reisman, April Price, Michael Parkins, Richard van Wylick, Yves Berthiaume, Lara Bilodeau, Dimas Mateos-Corral, Daniel Hughes, Mary J. Smith, Nancy Morrison, Janna Brusky, Elizabeth Tullis, Anne L. Stephenson, Bradley S. Quon, Pearce Wilcox, Winnie M. Leung, Melinda Solomon, Lei Sun, Emmanuelle Brochiero, Theo J. Moraes, Tanja Gonska, Felix Ratjen, Johanna M. Rommens, Lisa J. Strug
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)
Abstract Over 400 variants in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) are CF-causing. CFTR modulators target variants to improve lung function, but marked variability in response exists and current therapies do not address
Externí odkaz:
https://doaj.org/article/c9a883e6061748a2ad1bb0acfad420a2
Autor:
Chee Y. Ooi, Rosie Sutherland, Carlo Castellani, Katherine Keenan, Margaret Boland, Joe Reisman, Candice Bjornson, Mark A. Chilvers, Richard van Wylick, Steven Kent, April Price, Dimas Mateos-Corral, Daniel Hughes, Melinda Solomon, Peter Zuberbuhler, Janna Brusky, Peter R. Durie, Felix Ratjen, Tanja Gonska
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)
Abstract Background Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), i.e. CF transmembrane conductance regulator (CFTR)-related me
Externí odkaz:
https://doaj.org/article/7b7dc0389d05407d9f20efd82bd3212f
Autor:
Emmanuelle Brochiero, Pearce G. Wilcox, Lara Bilodeau, Mays Merjaneh, Nancy Morrison, Lisa J. Strug, Angela Hillaby, Julie Avolio, Katherine Keenan, Lynda Lazosky, Jennifer Itterman, Michael D. Parkins, Émilie Maille, Naim Panjwani, Mark A. Chilvers, Lei Sun, Jennifer Pike, Richard van Wylick, Yu Chung Lin, Raquel Consunji-Araneta, Caroline Burgess, Lorna Kosteniuk, Lori Fairservice, Christine Donnelly, Natalie Henderson, Damien Adam, Scott M. Blackman, Dimas Mateos-Corral, Bradley S. Quon, Mary Jackson, Janna Brusky, Felix Ratjen, Elizabeth Tullis, Garry R. Cutting, Clare Smith, Melinda Solomon, Harriet Corvol, Valerie Levesque, Daniel Hughes, Fan Lin, Nathalie Vadeboncoeur, Candice Bjornson, Yves Berthiaume, Guillaume Côté-Maurais, Anne L. Stephenson, Winnie Leung, Shaikh Iqbal, Jiafen Gong, Johanna M. Rommens, Mary Jane Smith, Paula Barrett, Joe Reisman, Terry Viczko, Katie Griffin, Danny Veniott, Vanessa McMahon, Stéphanie Bégin, April Price, Emma Karlsen, Andrea Dale
Publikováno v:
Genetics in Medicine
Purpose Cystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis–related diabetes (CFRD). Unt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ef7943d8c7bf7fcea5b30444d5d821
https://doi.org/10.1038/s41436-020-01073-x
https://doi.org/10.1038/s41436-020-01073-x
Autor:
Amanda Jober, Joe Reisman, Richard van Wylick, Christine Donnelly, Melinda Solomon, Joanne Hammel, Felix Ratjen, Jacky Au, Annie Dupuis, Katherine Keenan, Candice Bjornson, Shaikh Iqbal, Michael Derynck, Lori Fairservice, J. Itterman, Jocelyn Arpin, Tanja Gonska, Natalie Henderson, Lenna Morgan, April Price, Tamizan Kherani, Mark A. Chilvers, Lorna Kosteniuk, Janna Brusky, D. Hughes, Mary Jane Smith, Caroline Burgess, Dimas Mateos-Corral
Publikováno v:
Pediatrics. 148(6)
BACKGROUND AND OBJECTIVES Cystic fibrosis (CF) screen–positive infants with an inconclusive diagnosis (CFSPID) are infants in whom sweat testing and genetic analysis does not resolve a CF diagnosis. Lack of knowledge about the health outcome of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db1b99fabb4e8886ecb7acd6bf41eefa
https://pubmed.ncbi.nlm.nih.gov/34814191
https://pubmed.ncbi.nlm.nih.gov/34814191
Autor:
Melinda Solomon, Peter R. Durie, Mark A. Chilvers, Richard van Wylick, Steven Kent, Margaret Boland, Katherine Keenan, Tanja Gonska, Dimas Mateos-Corral, Janna Brusky, Peter Zuberbuhler, Rosie Sutherland, Candice Bjornson, Chee Y. Ooi, Daniel Hughes, Felix Ratjen, April Price, Carlo Castellani, Joe Reisman
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)
BMC Pediatrics
Paediatrics Publications
BMC Pediatrics
Paediatrics Publications
Background Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), i.e. CF transmembrane conductance regulator (CFTR)-related metabolic s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1de14acba72a1b6722685d54bc82b3
http://link.springer.com/article/10.1186/s12887-019-1756-4
http://link.springer.com/article/10.1186/s12887-019-1756-4
Autor:
Julie Avolio, Lorna Kosteniuk, Mays Merjaneh, Emmanuelle Brochiero, Pearce G. Wilcox, Yu-Chung Lin, Nancy Morrison, Katherine Keenan, Mark A. Chilvers, April Price, Melinda Solomon, Damien Adam, Dimas Mateos-Corral, Felix Ratjen, Jennifer Pike, Bradley S. Quon, Scott M. Blackman, Vanessa McMahon, Anne L. Stephenson, Joe Reisman, Terry Viczko, Mary Jackson, Natalie Henderson, Naim Panjwani, Nathalie Vadeboncoeur, Émilie Maille, Caroline Burgess, Katie Griffin, Harriet Corvol, Danny Veniott, Lori Fairservice, Shaikh Iqbal, Angela Hillaby, Raquel Consunji-Araneta, Christine Donnelly, Guillaume Côté-Maurais, Emma Karlsen, Clare Smith, Elizabeth Tullis, Andrea Dale, Winnie Leung, Paula Barrett, Lei Sun, Mary Jane Smith, Daniel Hughes, Stéphanie Bégin, Janna Brusky, Candice Bjornson, Lynda Lazosky, Richard van Wylick, Michael D. Parkins, Yves Berthiaume, Lara Bilodeau, Johanna M. Rommens, Lisa J. Strug, Jennifer Itterman, Valerie Levesque, Fan Lin, Jiafen Gong, Garry R. Cutting
Publikováno v:
Genetics in Medicine
Cystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis-related diabetes (CFRD). Untreated CFR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a58bc4c6d23bddeb54bbae662e77180d
https://doi.org/10.1038/s41436-021-01281-z
https://doi.org/10.1038/s41436-021-01281-z
Autor:
Lenna Morgan, April Price, Janna Brusky, Katherine Keenan, D. Hughes, Mark A. Chilvers, Jacky Au, Tanja Gonska, Candice Bjornson, Felix Ratjen, Mary Jane Smith, Shaikh Iqbal, Annie Dupuis, Joe Reisman, M. Derynck, R. van Wylick, Dimas Mateos-Corral
Publikováno v:
Journal of Cystic Fibrosis. 20:S11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::142d2afb08ff2ca706f0a4931afdfbed
https://doi.org/10.1016/s1569-1993(21)00946-2
https://doi.org/10.1016/s1569-1993(21)00946-2
Publikováno v:
Scopus-Elsevier
The Ubc13 protein was recently identified for its unique role in ubiquitin (Ub) chain assembly at the Ub Lys-63 residue instead of the conventional Lys-48 residue. This activity requires Ubc13 to form a complex with Mms2 and indeed ubc13 and mms2 mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2775318fd0436a05aa38a375d1aeaf0
https://pubmed.ncbi.nlm.nih.gov/10794173
https://pubmed.ncbi.nlm.nih.gov/10794173