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

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

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

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

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