A skeletal focal adhesion pathway initiated by LAMA5 regulates skeletogenesis

by Fabiana Csukasi, Pavel Krejci, Deborah Krakow, Ivan Duran
Published 2020-10-01

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network

by Bing Li, Karthika Balasubramanian, Deborah Krakow, Daniel H. Cohn
Published 2017-12-01

Skeletal diseases caused by mutations in PTH1R show aberrant differentiation of skeletal progenitors due to dysregulation of DEPTOR

by Fabiana Csukasi, Fabiana Csukasi, Fabiana Csukasi, Michaela Bosakova, Michaela Bosakova, Michaela Bosakova, Tomas Barta, Tomas Barta, Jorge H. Martin, Jesus Arcedo, Maya Barad, Gustavo A. Rico-Llanos, Gustavo A. Rico-Llanos, Jennifer Zieba, Jose Becerra, Jose Becerra, Pavel Krejci, Pavel Krejci, Pavel Krejci, Ivan Duran, Ivan Duran, Ivan Duran, Deborah Krakow, Deborah Krakow, Deborah Krakow, Deborah Krakow
Published 2023-01-01

Regulation of TAZ by DEPTOR controls mesenchymal progenitors lineage commitment in response to PTH1R signaling

by Fabiana Csukasi, Ivan Duran, Michaela Bosakova, Maya Barad, Jorge H. Martin, Daniel H. Cohn, Pavel Krejci, Deborah Krakow
Published 2020-10-01

Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growth

by Jennifer Zieba, Lisette Nevarez, Davis Wachtell, Jorge H. Martin, Alexander Kot, Sereen Wong, Daniel H. Cohn, Deborah Krakow
Published 2023-11-01

Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.

by Felipe Marques, Jessica Tenney, Ivan Duran, Jorge Martin, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H Cohn, Bing Li
Published 2016-12-01

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.

by Felipe Marques, Jessica Tenney, Ivan Duran, Jorge Martin, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H Cohn, Bing Li
Published 2016-09-01

Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model

by Jennifer Zieba, Kimberly N. Forlenza, Kelly Heard, Jorge H. Martin, Michaela Bosakova, Daniel H. Cohn, Stephen P. Robertson, Pavel Krejci, Deborah Krakow
Published 2022-04-01

TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.

by Jennifer Zieba, Kimberly Nicole Forlenza, Jagteshwar Singh Khatra, Anna Sarukhanov, Ivan Duran, Diana Rigueur, Karen M Lyons, Daniel H Cohn, Amy E Merrill, Deborah Krakow
Published 2016-03-01

Patterns of peripartum depression and anxiety during the pre-vaccine COVID-19 pandemic

by Marie R. Altendahl, Liwen Xu, Ifeyinwa Asiodu, W. John Boscardin, Stephanie L. Gaw, Valerie J. Flaherman, Vanessa L. Jacoby, Misty C. Richards, Deborah Krakow, Yalda Afshar
Published 2024-04-01

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

by Maya Barad, Fabiana Csukasi, Michaela Bosakova, Jorge H. Martin, Wenjuan Zhang, S. Paige Taylor, Ralph S. Lachman, Jennifer Zieba, Michael Bamshad, Deborah Nickerson, Jessica X. Chong, Daniel H. Cohn, Pavel Krejci, Deborah Krakow, Ivan Duran
Published 2020-12-01

Generalized connective tissue disease in Crtap-/- mouse.

by Dustin Baldridge, Jennifer Lennington, MaryAnn Weis, Erica P Homan, Ming-Ming Jiang, Elda Munivez, Douglas R Keene, William R Hogue, Shawna Pyott, Peter H Byers, Deborah Krakow, Daniel H Cohn, David R Eyre, Brendan Lee, Roy Morello
Published 2010-05-01

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

by Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci
Published 2020-11-01

Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

by Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J. F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter J. Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King, UK10K, Philip L. Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman
Published 2016-03-01

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

by Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Vittoria C Rossi, Ava S Berrier, Anika Lindsey, Jacob Lesinski, Michael L Nonet, Jian Chen, Dustin Baldridge, Gary A Silverman, V Reid Sutton, Jill A Rosenfeld, Alyssa A Tran, M John Hicks, David R Murdock, Hongzheng Dai, MaryAnn Weis, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Richard Caswell, Carrie Pottinger, Deirdre Cilliers, Karen Stals, Undiagnosed Diseases Network, David Eyre, Deborah Krakow, Tim Schedl, Stephen C Pak, Brendan H Lee
Published 2023-11-01

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

by Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
Published 2021-10-01