المؤلفون: Jean-Fabrice Nsota Mbango, Charles Coutton, Christophe Arnoult, Pierre F. Ray, Aminata Touré

المصدر: Basic and Clinical Andrology, Vol 29, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Male infertility, Genetic, MMAF, Sperm, CFAP, WDR, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12610-019-0083-9; https://doaj.org/toc/2051-4190

URL الوصول: https://doaj.org/article/00c91800e567407597934a8b0cf13206

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/Potential_energy_of_the_four_systems_of_NRXN2_WT_noNAG_MUT_noNAG_WT_NAG_and_MUT_NAG_over_100_ns_/14324483

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s005

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/Clinical_and_demographic_information_on_members_of_South_African_family_ZA253_with_Parkinson_s_disease_/14324471

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s001

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/Summary_of_whole_exome_sequencing_metrics_in_the_three_affected_individuals_/14324474

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s002

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/The_average_temperature_of_the_four_systems_of_NRXN2_WT_noNAG_MUT_noNAG_WT_NAG_and_MUT_NAG_over_100_ns_/14324486

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s006

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/Total_energy_of_the_four_systems_of_NRXN2_WT_noNAG_MUT_noNAG_WT_NAG_and_MUT_NAG_over_100_ns_/14324480

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s004

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/2D_interaction_diagram_showing_polar_contacts_formed_between_NRXN2_residues_and_sugar_moiety_NAG_/14324489

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s007

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/The_average_temperature_of_the_four_systems_of_repeat_2_NRNX2_WT_noNAG_MUT_noNAG_WT_NAG_and_MUT_NAG_over_100_ns_/14324510

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s014

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/Potential_energy_of_the_four_systems_of_repeat_2_of_NRNX2_WT_noNAG_MUT_noNAG_WT_NAG_and_MUT_NAG_over_100_ns_/14324507

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s013

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/Total_energy_of_the_four_systems_of_the_repeat_1_of_NRXN2_WT_noNAG_MUT_noNAG_WT_NAG_and_MUT_NAG_over_100_ns_/14324492

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s008

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/Total_energy_of_the_four_systems_of_the_repeat_2_of_NRNX2_WT_noNAG_MUT_noNAG_WT_NAG_and_MUT_NAG_over_100_ns_/14324504

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s012

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/The_average_temperature_of_the_four_systems_of_repeat_1_NRXN2_WT_noNAG_MUT_noNAG_WT_NAG_and_MUT_NAG_over_100_ns_/14324498

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s010

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/RMSD_deviation_of_the_backbone_atoms_for_the_four_systems_of_repeat_2_NRXN2_1_40mm_0_33_1_98mm_0_45_2_15mm_0_51_and_1_29mm_0_29_/14324513

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s015

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/Potential_energy_of_the_four_systems_of_repeat_1_of_NRXN2_WT_noNAG_MUT_noNAG_WT_NAG_and_MUT_NAG_over_100_ns_/14324495

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s009

المؤلفون: Boiketlo Sebate (10475333), Katelyn Cuttler (10475336), Ruben Cloete (173249), Marcell Britz (10475339), Alan Christoffels (16635), Monique Williams (391976), Jonathan Carr (7311947), Soraya Bardien (3500174)

مصطلحات موضوعية: Genetics, Molecular Biology, Science Policy, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, NAG, Mendelian, WES, Next-generation sequencing approaches, CCNF, disorder, CFAP, NRNX, RTF, PD, Parkinson, South, TEP, tool, protein, LNS -6 domain, model quality assessment scores, variant, NRXN 2, analysis

Relation: https://figshare.com/articles/journal_contribution/RMSD_deviation_of_the_backbone_atoms_for_the_four_systems_of_repeat_1_NRXN2_/14324501

الاتاحة: https://doi.org/10.1371/journal.pone.0249324.s011

المؤلفون: Isabella Aprea (5687546), Johanna Raidt (10204028), Inga Marlena Höben (10204031), Niki Tomas Loges (7585775), Tabea Nöthe-Menchen (5687540), Petra Pennekamp (5687549), Heike Olbrich (5687543), Thomas Kaiser (553597), Luisa Biebach (10204034), Frank Tüttelmann (223435), Judit Horvath (4796451), Maria Schubert (422035), Claudia Krallmann (10204037), Sabine Kliesch (223438), Heymut Omran (4811436)

مصطلحات موضوعية: Cell Biology, Physiology, Developmental Biology, Cancer, infertility Axonemal protein complexes, PIH, axonemal dynein arms, DNAAF, fertility status, cytoplasmic assembly, sperm flagellar length, CFAP, LRRC, PCD, 1C, 1D, IDA, ODA, transmission electron microscopy, dynein arms, DYX, axonemal dynein preassembly, axonemal dynein arms cause, model organisms, KTU, sperm flagella

Relation: https://figshare.com/articles/journal_contribution/Family_pedigrees_of_PCD_affected_individuals_with_combined_ODA_IDA_defects_/14126048

الاتاحة: https://doi.org/10.1371/journal.pgen.1009306.s001

المؤلفون: Isabella Aprea (5687546), Johanna Raidt (10204028), Inga Marlena Höben (10204031), Niki Tomas Loges (7585775), Tabea Nöthe-Menchen (5687540), Petra Pennekamp (5687549), Heike Olbrich (5687543), Thomas Kaiser (553597), Luisa Biebach (10204034), Frank Tüttelmann (223435), Judit Horvath (4796451), Maria Schubert (422035), Claudia Krallmann (10204037), Sabine Kliesch (223438), Heymut Omran (4811436)

مصطلحات موضوعية: Cell Biology, Physiology, Developmental Biology, Cancer, infertility Axonemal protein complexes, PIH, axonemal dynein arms, DNAAF, fertility status, cytoplasmic assembly, sperm flagellar length, CFAP, LRRC, PCD, 1C, 1D, IDA, ODA, transmission electron microscopy, dynein arms, DYX, axonemal dynein preassembly, axonemal dynein arms cause, model organisms, KTU, sperm flagella

Relation: https://figshare.com/articles/journal_contribution/Quantification_of_DNAI1_immunofluorescence_IF_in_respiratory_cells_of_healthy_control_and_dynein_preassembly_mutant_individuals_/14126069

الاتاحة: https://doi.org/10.1371/journal.pgen.1009306.s008

المؤلفون: Isabella Aprea (5687546), Johanna Raidt (10204028), Inga Marlena Höben (10204031), Niki Tomas Loges (7585775), Tabea Nöthe-Menchen (5687540), Petra Pennekamp (5687549), Heike Olbrich (5687543), Thomas Kaiser (553597), Luisa Biebach (10204034), Frank Tüttelmann (223435), Judit Horvath (4796451), Maria Schubert (422035), Claudia Krallmann (10204037), Sabine Kliesch (223438), Heymut Omran (4811436)

مصطلحات موضوعية: Cell Biology, Physiology, Developmental Biology, Cancer, infertility Axonemal protein complexes, PIH, axonemal dynein arms, DNAAF, fertility status, cytoplasmic assembly, sperm flagellar length, CFAP, LRRC, PCD, 1C, 1D, IDA, ODA, transmission electron microscopy, dynein arms, DYX, axonemal dynein preassembly, axonemal dynein arms cause, model organisms, KTU, sperm flagella

Relation: https://figshare.com/articles/journal_contribution/Measurement_of_the_DNAI1_fluorescence_intensity_along_the_flagellar_axonemes_of_control_and_dynein_preassembly_mutant_sperm_/14126078

الاتاحة: https://doi.org/10.1371/journal.pgen.1009306.s010

المؤلفون: Isabella Aprea (5687546), Johanna Raidt (10204028), Inga Marlena Höben (10204031), Niki Tomas Loges (7585775), Tabea Nöthe-Menchen (5687540), Petra Pennekamp (5687549), Heike Olbrich (5687543), Thomas Kaiser (553597), Luisa Biebach (10204034), Frank Tüttelmann (223435), Judit Horvath (4796451), Maria Schubert (422035), Claudia Krallmann (10204037), Sabine Kliesch (223438), Heymut Omran (4811436)

مصطلحات موضوعية: Cell Biology, Physiology, Developmental Biology, Cancer, infertility Axonemal protein complexes, PIH, axonemal dynein arms, DNAAF, fertility status, cytoplasmic assembly, sperm flagellar length, CFAP, LRRC, PCD, 1C, 1D, IDA, ODA, transmission electron microscopy, dynein arms, DYX, axonemal dynein preassembly, axonemal dynein arms cause, model organisms, KTU, sperm flagella

Relation: https://figshare.com/articles/journal_contribution/Measurement_of_the_DNAI1_fluorescence_intensity_along_the_ciliary_axonemes_of_i_LRRC6_i_-mutant_respiratory_cells_/14126099

الاتاحة: https://doi.org/10.1371/journal.pgen.1009306.s017

المؤلفون: Isabella Aprea (5687546), Johanna Raidt (10204028), Inga Marlena Höben (10204031), Niki Tomas Loges (7585775), Tabea Nöthe-Menchen (5687540), Petra Pennekamp (5687549), Heike Olbrich (5687543), Thomas Kaiser (553597), Luisa Biebach (10204034), Frank Tüttelmann (223435), Judit Horvath (4796451), Maria Schubert (422035), Claudia Krallmann (10204037), Sabine Kliesch (223438), Heymut Omran (4811436)

مصطلحات موضوعية: Cell Biology, Physiology, Developmental Biology, Cancer, infertility Axonemal protein complexes, PIH, axonemal dynein arms, DNAAF, fertility status, cytoplasmic assembly, sperm flagellar length, CFAP, LRRC, PCD, 1C, 1D, IDA, ODA, transmission electron microscopy, dynein arms, DYX, axonemal dynein preassembly, axonemal dynein arms cause, model organisms, KTU, sperm flagella

Relation: https://figshare.com/articles/journal_contribution/Measurement_of_the_DNAI2_fluorescence_intensity_along_the_ciliary_axonemes_of_i_DNAAF2_KTU_i_-mutant_respiratory_cells_/14126108

الاتاحة: https://doi.org/10.1371/journal.pgen.1009306.s020