Loss of the Mouse Ortholog of the Shwachman-Diamond Syndrome Gene (Sbds) Results in Early Embryonic Lethality

Por Zhang, Siyi, Shi, Mingjun, Hui, Chi-chung, Rommens, Johanna M.
Publicado em 2006

Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X

Por Aznarez, Isabel, Zielenski, Julian, Rommens, Johanna M, Blencowe, Benjamin J, Tsui, Lap‐Chee
Publicado em 2007

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses

Por Ball, Heather L., Zhang, Bing, Riches, J. Jacob, Gandhi, Rikesh, Li, Jing, Rommens, Johanna M., Myers, Jeremy S.
Publicado em 2009

Bias in CFTR screening panels

Por Sosnay, Patrick R., Castellani, Carlo, Penland, Christopher M., Rommens, Johanna M., Lewis, Michelle, Raraigh, Karen S., Corey, Mary, Cutting, Garry R.
Publicado no Genet Med (2015)

Determinants of the Nuclear Localization of the Heterodimeric DNA Fragmentation Factor (Icad/Cad)

Por Lechardeur, Delphine, Drzymala, Luke, Sharma, Manu, Zylka, Danuta, Kinach, Robert, Pacia, Joanna, Hicks, Christopher, Usmani, Nawaid, Rommens, Johanna M., Lukacs, Gergely L.
Publicado em 2000

Permeability of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels to Polyatomic Anions

Por Linsdell, Paul, Tabcharani, Joseph A., Rommens, Johanna M., Hou, Yue-Xian, Chang, Xiu-Bao, Tsui, Lap-Chee, Riordan, John R., Hanrahan, John W.
Publicado em 1997

A systematic analysis of intronic sequences downstream of 5′ splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation

Por Aznarez, Isabel, Barash, Yoseph, Shai, Ofer, He, David, Zielenski, Julian, Tsui, Lap-Chee, Parkinson, John, Frey, Brendan J., Rommens, Johanna M., Blencowe, Benjamin J.
Publicado em 2008

In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency

Por Tourlakis, Marina E., Zhang, Siyi, Ball, Heather L., Gandhi, Rikesh, Liu, Hongrui, Zhong, Jian, Yuan, Julie S., Guidos, Cynthia J., Durie, Peter R., Rommens, Johanna M.
Publicado no PLoS Genet (2015)

Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes

Por Diamandis, Maria, Paterson, Andrew D., Rommens, Johanna M., Veljkovic, D. Kika, Blavignac, Jessica, Bulman, Dennis E., Waye, John S., Derome, Francine, Rivard, Georges E., Hayward, Catherine P. M.
Publicado em 2009

A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways

Por Soave, David, Corvol, Harriet, Panjwani, Naim, Gong, Jiafen, Li, Weili, Boëlle, Pierre-Yves, Durie, Peter R., Paterson, Andrew D., Rommens, Johanna M., Strug, Lisa J., Sun, Lei
Publicado no Am J Hum Genet (2015)

Evidence for a Causal Relationship Between Early Exocrine Pancreatic Disease and Cystic Fibrosis–Related Diabetes: A Mendelian Randomization Study

Por Soave, David, Miller, Melissa R., Keenan, Katherine, Li, Weili, Gong, Jiafen, Ip, Wan, Accurso, Frank, Sun, Lei, Rommens, Johanna M., Sontag, Marci, Durie, Peter R., Strug, Lisa J.
Publicado em 2014

Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene

Por Rommens, Johanna M., Zengerling, Stefanie, Burns, Julie, Melmer, Georg, Kerem, Bat-sheva, Plavsic, Natasa, Zsiga, Martha, Kennedy, Dara, Markiewicz, Danuta, Rozmahel, Richard, Riordan, Jack R., Buchwald, Manuel, Tsui, Lap-chee
Publicado em 1988

Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis

Por Collaco, Joseph M., Blackman, Scott M., Raraigh, Karen S., Corvol, Harriet, Rommens, Johanna M., Pace, Rhonda G., Boelle, Pierre-Yves, McGready, John, Sosnay, Patrick R., Strug, Lisa J., Knowles, Michael R., Cutting, Garry R.
Publicado no Am J Respir Crit Care Med (2016)

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

Por Zambetti, Noemi A., Bindels, Eric M. J., Van Strien, Paulina M. H., Valkhof, Marijke G., Adisty, Maria N., Hoogenboezem, Remco M., Sanders, Mathijs A., Rommens, Johanna M., Touw, Ivo P., Raaijmakers, Marc H. G. P.
Publicado no Haematologica (2015)

Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7

Por Goobie, Sharan, Popovic, Maja, Morrison, Jodi, Ellis, Lynda, Ginzberg, Hedy, Boocock, Graeme R. B., Ehtesham, Nadia, Bétard, Christine, Brewer, Carl G., Roslin, Nicole M., Hudson, Thomas J., Morgan, Kenneth, Fujiwara, T. Mary, Durie, Peter R., Rommens, Johanna M.
Publicado em 2001

Bone progenitor dysfunction induces myelodysplasia and secondary leukemia

Por Raaijmakers, Marc H.G.P., Mukherjee, Siddhartha, Guo, Shangqin, Zhang, Siyi, Kobayashi, Tatsuya, Schoonmaker, Jesse A., Ebert, Benjamin L., Al-Shahrour, Fatima, Hasserjian, Robert P., Scadden, Edward O., Aung, Zinmar, Matza, Marc, Merkenschlager, Matthias, Lin, Charles, Rommens, Johanna M., Scadden, David. T.
Publicado em 2010

A genome-wide linkage study of mammographic density, a risk factor for breast cancer

Por Greenwood, Celia MT, Paterson, Andrew D, Linton, Linda, Andrulis, Irene L, Apicella, Carmel, Dimitromanolakis, Apostolos, Kriukov, Valentina, Martin, Lisa J, Salleh, Ayesha, Samiltchuk, Elena, Parekh, Rashmi V, Southey, Melissa C, John, Esther M, Hopper, John L, Boyd, Norman F, Rommens, Johanna M
Publicado em 2011

Genetic Modifiers of Cystic Fibrosis–Related Diabetes

Por Blackman, Scott M., Commander, Clayton W., Watson, Christopher, Arcara, Kristin M., Strug, Lisa J., Stonebraker, Jaclyn R., Wright, Fred A., Rommens, Johanna M., Sun, Lei, Pace, Rhonda G., Norris, Sarah A., Durie, Peter R., Drumm, Mitchell L., Knowles, Michael R., Cutting, Garry R.
Publicado em 2013

Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis

Por Miller, Melissa R., Soave, David, Li, Weili, Gong, Jiafen, Pace, Rhonda G., Boëlle, Pierre-Yves, Cutting, Garry R., Drumm, Mitchell L., Knowles, Michael R., Sun, Lei, Rommens, Johanna M., Accurso, Frank, Durie, Peter R., Corvol, Harriet, Levy, Hara, Sontag, Marci K., Strug, Lisa J.
Publicado no J Pediatr (2015)

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Por Sosnay, Patrick R, Siklosi, Karen R, Van Goor, Fredrick, Kaniecki, Kyle, Yu, Haihui, Sharma, Neeraj, Ramalho, Anabela S, Amaral, Margarida D, Dorfman, Ruslan, Zielenski, Julian, Masica, David L, Karchin, Rachel, Millen, Linda, Thomas, Philip J, Patrinos, George P, Corey, Mary, Lewis, Michelle H, Rommens, Johanna M, Castellani, Carlo, Penland, Christopher M, Cutting, Garry R
Publicado em 2013