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: Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Weisheng Chen, Zeynep Coban Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Sen Liu, Jiaqi Liu, Yixin Chen, Yuzhi Zuo, Xu Yang, Tianshu Sun, Xin‐Zhuang Yang, Yuchen Niu, Xiaoxin Li, Wesley You, Bintao Qiu, Chen Ding, Pengfei Liu, Shuyang Zhang, Claudia M. B. Carvalho, Jennifer E. Posey, Guixing Qiu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, James R. Lupski, Zhihong Wu, Jianguo Zhang, Nan Wu

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)

مصطلحات موضوعية: dominant‐negative mechanism, FBN1, Marfan syndrome, Marfanoid–progeroid–lipodystrophy syndrome, targeted next generation sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/5cbefdd21f0a45fc98c8888556471ceb

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

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/Dilated_endoplasmic_reticulum_and_altered_Golgi_distribution_in_patient_cells_suggest_an_intracellular_trafficking_defect_/24520350

الاتاحة: https://doi.org/10.1371/journal.pgen.1011005.g004
https://figshare.com/articles/figure/Dilated_endoplasmic_reticulum_and_altered_Golgi_distribution_in_patient_cells_suggest_an_intracellular_trafficking_defect_/24520350