المؤلفون: Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/fa7e561bde0647a3a38569265135f1c2

المؤلفون: 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

المصدر: PLoS Genetics, Vol 19, Iss 11, p e1011005 (2023)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1011005&type=printable; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d6d02fb43ddb4cad86147275323bfe06

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/journal_contribution/Collagen_post-translational_modification_is_not_altered_in_Proband_1_/24520317

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s008
https://figshare.com/articles/journal_contribution/Collagen_post-translational_modification_is_not_altered_in_Proband_1_/24520317

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/journal_contribution/_i_unc-116_i_genome_editing_reagents_/24520335

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s014
https://figshare.com/articles/journal_contribution/_i_unc-116_i_genome_editing_reagents_/24520335

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/journal_contribution/Single_copy_transgene_of_i_unc-116_i_is_functional_/24520323

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s010
https://figshare.com/articles/journal_contribution/Single_copy_transgene_of_i_unc-116_i_is_functional_/24520323

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/journal_contribution/_i_KIF5B_i_overexpression_and_knockdown_in_NIH3T3_cells_/24520326

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s011
https://figshare.com/articles/journal_contribution/_i_KIF5B_i_overexpression_and_knockdown_in_NIH3T3_cells_/24520326

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/journal_contribution/_i_KIF5B_i_P-loop_nucleotide_binding_domain_is_highly_conserved_between_species_/24520320

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s009
https://figshare.com/articles/journal_contribution/_i_KIF5B_i_P-loop_nucleotide_binding_domain_is_highly_conserved_between_species_/24520320

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/journal_contribution/List_of_i_C_i_i_elegans_i_strains_used_in_this_study_/24520332

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s013
https://figshare.com/articles/journal_contribution/List_of_i_C_i_i_elegans_i_strains_used_in_this_study_/24520332

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/journal_contribution/List_of_members_of_the_UDN_/24520338

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s015
https://figshare.com/articles/journal_contribution/List_of_members_of_the_UDN_/24520338

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/journal_contribution/Reduced_mTOR_signaling_in_patient_fibroblasts_/24520329

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s012
https://figshare.com/articles/journal_contribution/Reduced_mTOR_signaling_in_patient_fibroblasts_/24520329

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/media/_i_unc-116_T90I_i_variant_Het_mitochondrial_transport_/24520305

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s004
https://figshare.com/articles/media/_i_unc-116_T90I_i_variant_Het_mitochondrial_transport_/24520305

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/dataset/Supplemental_data_file_RNA_sequencing_data_/24520308

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s005
https://figshare.com/articles/dataset/Supplemental_data_file_RNA_sequencing_data_/24520308

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/media/_i_unc-116_T90T_i_control_edit_mitochondrial_transport_/24520302

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s003
https://figshare.com/articles/media/_i_unc-116_T90T_i_control_edit_mitochondrial_transport_/24520302

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/media/_i_unc-116_T90I_i_variant_Het_swimming_/24520299

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s002
https://figshare.com/articles/media/_i_unc-116_T90I_i_variant_Het_swimming_/24520299

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/dataset/Supplemental_data_file_numerical_data_i_C_i_i_elegans_i_studies_/24520314

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s007
https://figshare.com/articles/dataset/Supplemental_data_file_numerical_data_i_C_i_i_elegans_i_studies_/24520314

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/media/Control_i_C_i_i_elegans_i_WT_VC2010_swimming_/24520023

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s001
https://figshare.com/articles/media/Control_i_C_i_i_elegans_i_WT_VC2010_swimming_/24520023

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/dataset/Supplemental_data_file_numerical_data_cell_studies_/24520311

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.s006
https://figshare.com/articles/dataset/Supplemental_data_file_numerical_data_cell_studies_/24520311

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/figure/_i_unc-116_T90I_i_is_damaging_and_behaves_as_a_dominant_negative_allele_in_i_C_i_i_elegans_i_/24520344

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.g002
https://figshare.com/articles/figure/_i_unc-116_T90I_i_is_damaging_and_behaves_as_a_dominant_negative_allele_in_i_C_i_i_elegans_i_/24520344

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/figure/Recurrent_heterozygous_variants_in_i_KIF5B_i_cause_osteogenesis_imperfecta_/24520341

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.g001
https://figshare.com/articles/figure/Recurrent_heterozygous_variants_in_i_KIF5B_i_cause_osteogenesis_imperfecta_/24520341

المؤلفون: 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, David Eyre, Deborah Krakow, Tim Schedl, Stephen C. Pak, Brendan H. Lee

مصطلحات موضوعية: Biophysics, Biochemistry, Cell Biology, Genetics, Molecular Biology, Developmental Biology, Infectious Diseases, wild type allele, primary human fibroblasts, multiple intracellular vacuoles, intracellular trafficking defect, bone immunohistochemistry demonstrated, dominant negative mechanism, variants cluster within, dominant negative variants, performed functional analysis, de novo <, kinesin motor domain, mtor signaling pathway, >, heterozygous variants, mtor signaling, genetic mechanism, pathogenic variants, proteomic analysis, protein analysis, cell signaling, vivo <, kif5b <, elegans <

Relation: https://figshare.com/articles/figure/The_i_KIF5B_i_p_Thr87Ile_variant_is_associated_with_reduced_mTOR_signaling_/24520356

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.g006
https://figshare.com/articles/figure/The_i_KIF5B_i_p_Thr87Ile_variant_is_associated_with_reduced_mTOR_signaling_/24520356