يعرض 1 - 10 نتائج من 16 نتيجة بحث عن '"Isabella Aprea"', وقت الاستعلام: 0.89s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7

    المؤلفون: Alina Wilken, Inga Marlena Höben, Alexander Wolter, Niki Tomas Loges, Heike Olbrich, Isabella Aprea, Bernd Dworniczak, Johanna Raidt, Heymut Omran

    المصدر: Cells, Vol 13, Iss 14, p 1200 (2024)

    مصطلحات موضوعية: PCD, motile cilia, ruler, IDA, diagnostics, axonemal disorganization, Cytology, QH573-671

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2073-4409/13/14/1200; https://doaj.org/toc/2073-4409

    URL الوصول: https://doaj.org/article/2eb23d7db69e4ee5941139133f745972

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  2. 2
    دورية أكاديمية
    CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

    المؤلفون: Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran

    المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)

    مصطلحات موضوعية: Science

    وصف الملف: electronic resource

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

    URL الوصول: https://doaj.org/article/ab0a6ca10924497e88909fc70b971840

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  3. 3
    دورية أكاديمية
    Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.

    المؤلفون: Isabella Aprea, Johanna Raidt, Inga Marlena Höben, Niki Tomas Loges, Tabea Nöthe-Menchen, Petra Pennekamp, Heike Olbrich, Thomas Kaiser, Luisa Biebach, Frank Tüttelmann, Judit Horvath, Maria Schubert, Claudia Krallmann, Sabine Kliesch, Heymut Omran

    المصدر: PLoS Genetics, Vol 17, Iss 2, p e1009306 (2021)

    مصطلحات موضوعية: Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

    URL الوصول: https://doaj.org/article/28a316a5b9b64339a861b727a3694e69

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  4. 4
    دورية أكاديمية
    Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

    المؤلفون: Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, Oded Breuer, Avraham Shaag, Azaria J J T Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran

    المصدر: PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)

    مصطلحات موضوعية: Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC6128653?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

    URL الوصول: https://doaj.org/article/5d530776325f402694439d56dd8f1977

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  5. 5
    Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure

    المؤلفون: Luisa Biebach, Sandra Cindrić, Julia Koenig, Isabella Aprea, Gerard W. Dougherty, Johanna Raidt, Diana Bracht, Renate Ruppel, Jens Schreiber, Rim Hjeij, Heike Olbrich, Heymut Omran

    المصدر: American Journal of Respiratory Cell and Molecular Biology. 67:409-413

    مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Clinical Biochemistry, Cell Biology, Molecular Biology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1888c0e0afdaddb0fe8745b9dd96b1d1
    https://doi.org/10.1165/rcmb.2022-0032le

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  6. 6
    Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia

    المؤلفون: Rim Hjeij, Isabella Aprea, Marco Poeta, Tabea Nöthe-Menchen, Diana Bracht, Johanna Raidt, Barbara I. Honecker, Gerard W. Dougherty, Heike Olbrich, Oliver Schwartz, Ulrike Keller, Harald Nüsse, Karin E.M. Diderich, Christian Vogelberg, Francesca Santamaria, Heymut Omran

    المساهمون: Clinical Genetics

    المصدر: Genetics in Medicine, 25(5):100798. Lippincott Williams & Wilkins

    مصطلحات موضوعية: Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a53d2c5b667d203ce6266b3a94f354fb
    https://pure.eur.nl/en/publications/96f03a11-eee6-4329-bd32-a4d6866ccf51

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  7. 7
    Recessive Mutations in

    المؤلفون: Luisa, Biebach, Sandra, Cindrić, Julia, Koenig, Isabella, Aprea, Gerard W, Dougherty, Johanna, Raidt, Diana, Bracht, Renate, Ruppel, Jens, Schreiber, Rim, Hjeij, Heike, Olbrich, Heymut, Omran

    المصدر: American journal of respiratory cell and molecular biology. 67(3)

    مصطلحات موضوعية: Kartagener Syndrome, Mutation, Humans, Cilia

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b751b574112d4327a11c9ebfbbad83f3
    https://pubmed.ncbi.nlm.nih.gov/36047773

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  8. 8
    Defects in outer dynein arm docking machinery cause primary ciliary dyskinesia

    المؤلفون: Gerard W. Dougherty, Heymut Omran, Heike Olbrich, Isabella Aprea, Rim Hjeij

    المصدر: Paediatric lung cell and molecular biology.

    مصطلحات موضوعية: Docking (dog), business.industry, medicine, Outer dynein arm, medicine.disease, business, Primary ciliary dyskinesia, Cell biology

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7251817bf6e6a258de5ca03a8eed4750
    https://doi.org/10.1183/13993003.congress-2021.oa1612

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  9. 9
    Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

    المؤلفون: Tabea Nöthe-Menchen, Heymut Omran, Gerard W. Dougherty, Julia Wallmeier, Thomas Kaiser, Timo Strünker, Petra Pennekamp, Heike Olbrich, Isabella Aprea, Sabine Kliesch, Niki T. Loges, Johanna Raidt

    المصدر: Molecular Human Reproduction

    مصطلحات موضوعية: 0301 basic medicine, Male, Embryology, Axoneme, Mice, 129 Strain, Movement, Mice, Transgenic, Biology, Genitalia, Male, Asthenozoospermia, efferent ducts / cilia / sperm / motor proteins / outer dynein arm-defects / DNAH5 / 45 male infertility / oligozoospermia / motile ciliopathy / primary ciliary dyskinesia, Andrology, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Cilia, Molecular Biology, Sperm motility, Primary ciliary dyskinesia, Original Research, 030219 obstetrics & reproductive medicine, Obstetrics and Gynecology, Efferent ducts, Cell Biology, Axonemal Dyneins, Oligospermia, medicine.disease, Epididymis, Sperm, Spermatozoa, AcademicSubjects/MED00905, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, Phenotype, Reproductive Medicine, Mutation, Motile cilium, Sperm Motility, Outer dynein arm, Developmental Biology, Ciliary Motility Disorders

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6ed3789c3919fc386173c407671b677
    https://pubmed.ncbi.nlm.nih.gov/33561200

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  10. 10
    CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

    المؤلفون: Hidetaka Shiratori, Claudius Werner, Kavita Praveen, Stef J.F. Letteboer, Petra Pennekamp, Petras P. Dzeja, Katrin Junger, Inga M. Höben, Franziska Rabert, Friederike Stumme, Julia Wallmeier, Isabella Aprea, Zeev Perles, Erica E. Davis, Judith A. Klinkenbusch, Israel Amirav, Yasin Memari, Yayoi Ikawa, Niki T. Loges, Diana Bracht, Wang Kyaw Twan, Kerstin Bartscherer, Tabea Nöthe-Menchen, Micha Aviram, Yuan Ping Pang, Rim Hjeij, Johanna Raidt, Heike Olbrich, Huda Mussaffi, Katsutoshi Mizuno, Nicola Horn, Timo Strünker, Heymut Omran, Sandra Cindric, Asaf Ta-Shma, Gerard W. Dougherty, Katsuyoshi Takaoka, Marius Ueffing, Thomas Kaiser, Katsura Minegishi, Jörg Große-Onnebrink, Hiroshi Hamada, Jana Gützlaff, Bernd Dworniczak, Luisa Biebach, Samuel M. Young, Orly Elpeleg, Nicholas Katsanis, Karsten Boldt, Takahiro Ide, Ronald Roepman

    المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research

    المصدر: Nature Communications, 11
    Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
    Nature Communications
    Nature Communications, 11, 1
    Nature Communications, 11(1). Nature Publishing Group

    مصطلحات موضوعية: 0301 basic medicine, Male, Axoneme, DNA Mutational Analysis, General Physics and Astronomy, Diseases, Whole Exome Sequencing, chemistry.chemical_compound, Mice, 0302 clinical medicine, Cilia/metabolism, Adenine nucleotide, Loss of Function Mutation, Epididymis/pathology, Sperm Motility/genetics, Axoneme/ultrastructure, lcsh:Science, Tomography, Epididymis, Mice, Knockout, Multidisciplinary, Adenine Nucleotides, Adenine Nucleotides/metabolism, Cilium, CRISPR-Cas Systems/genetics, Microtubule sliding, Middle Aged, Situs Inversus, Respiratory Mucosa/cytology, Cell biology, X-Ray Computed, Asthenozoospermia, Flagella, Sperm Motility, Female, Adenosine monophosphate, Adult, Adolescent, Science, Knockout, Dynein, Adenylate kinase, Respiratory Mucosa, General Biochemistry, Genetics and Molecular Biology, Article, Asthenozoospermia/genetics, 03 medical and health sciences, Exome Sequencing, Planarians/cytology, Genetics, Animals, Humans, Cilia, Cytoskeletal Proteins/deficiency, Situs Inversus/diagnostic imaging, Flagella/metabolism, Animal, General Chemistry, Planarians, Adenosine diphosphate, Cytoskeletal Proteins, Disease Models, Animal, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chemistry, Disease Models, lcsh:Q, CRISPR-Cas Systems, Tomography, X-Ray Computed, Adenosine triphosphate, 030217 neurology & neurosurgery

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d88a83337a6f0f647e8e4ba37a5d642
    http://hdl.handle.net/2066/229376

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