المؤلفون: Synnøve Yndestad, Hans Kristian Haugland, Dorota Goplen, Dorota Wojcik, Stian Knappskog, Per Eystein Lønning

المصدر: Acta Oncologica, Vol 63, Iss 1 (2024)

مصطلحات موضوعية: Soft tissue sarcoma, pathogenic germline variants, hereditary, MYO3A, MYO5B, CHD1L, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://medicaljournalssweden.se/actaoncologica/article/view/40730; https://doaj.org/toc/1651-226X

URL الوصول: https://doaj.org/article/cae93a76423c4eee98bc61f97a74681b

المؤلفون: Joseph A. Cirilo, Laura K. Gunther, Christopher M. Yengo

المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: actin, myosin, ATPase, stereocilia, MYO3A, MYO3B, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.643856/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/d47deb0297994a89ba38186ac099e40c

المؤلفون: Amal Souissi (11313368), Dorra Abdelmalek Driss (11313371), Imen Chakchouk (7544825), Mariem Ben Said (11313374), Ikhlas Ben Ayed (11313377), Mohamed Ali Mosrati (11313380), Ines Elloumi (11313383), Abdelaziz Tlili (4459021), Sami Aifa (11313386), Saber Masmoudi (144323)

مصطلحات موضوعية: Biochemistry, Medicine, Microbiology, Genetics, Molecular Biology, Virology, Computational Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Hearing impairment severity, pathogenic variant, MYO3A Kinase domain, molecular modelling

Relation: https://figshare.com/articles/journal_contribution/Molecular_insights_into_i_MYO3A_i_kinase_domain_variants_explain_variability_in_both_severity_and_progression_of_DFNB30_hearing_impairment/16405505

الاتاحة: https://doi.org/10.6084/m9.figshare.16405505.v1

المؤلفون: Julia Doll, Michaela A. H. Hofrichter, Paulina Bahena, Alfred Heihoff, Dennis Segebarth, Tobias Müller, Marcus Dittrich, Thomas Haaf, Barbara Vona

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

مصطلحات موضوعية: autosomal dominant nonsyndromic hearing loss, MYO3A, myosin IIIA, progressive hearing loss, sensorineural hearing loss, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/e3a28149327449109b326fcf9b72c593

المؤلفون: Bizzari, Sami, El-Bazzal, Lara, Nair, Pratibha, Younan, Antoine, Stora, Samantha, Mehawej, Cybel, El-Hayek, Stephany, Delague, Valérie, Mégarbané, André

المساهمون: Centre for Arab Genomic Studies (CAGS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), Institut Jérôme Lejeune, Unité de génétique médicale, Université Saint-Joseph de Beyrouth (USJ)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal-amu.archives-ouvertes.fr/hal-02550686 ; European Journal of Medical Genetics, 2020, 63 (5), pp.103869. ⟨10.1016/j.ejmg.2020.103869⟩.

مصطلحات موضوعية: Marfanoid habitus, Hernia, EFEMP1, MYO3A, Mutation, Recessive, VCPKMT, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

Relation: hal-02550686; https://hal-amu.archives-ouvertes.fr/hal-02550686; https://hal-amu.archives-ouvertes.fr/hal-02550686/document; https://hal-amu.archives-ouvertes.fr/hal-02550686/file/MAJ%20Bizzari2020.pdf

الاتاحة: https://hal-amu.archives-ouvertes.fr/hal-02550686
https://hal-amu.archives-ouvertes.fr/hal-02550686/document
https://hal-amu.archives-ouvertes.fr/hal-02550686/file/MAJ%20Bizzari2020.pdf
https://doi.org/10.1016/j.ejmg.2020.103869

المؤلفون: Barbara Vona, Alfred Heihoff, Thomas Haaf, Michaela A.H. Hofrichter, Marcus Dittrich, Tobias Müller, Paulina Bahena, Dennis Segebarth, Julia Doll

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

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, lcsh:QH426-470, Hearing loss, Hearing Loss, Sensorineural, Mutation, Missense, autosomal dominant nonsyndromic hearing loss, 030105 genetics & heredity, Biology, Myosin IIIA, Clinical Reports, sensorineural hearing loss, 03 medical and health sciences, Protein Domains, Genetics, medicine, otorhinolaryngologic diseases, Humans, Missense mutation, Myosin Type III, Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Genes, Dominant, Clinical Report, Myosin Heavy Chains, Auditory Threshold, medicine.disease, Pedigree, lcsh:Genetics, 030104 developmental biology, myosin IIIA, Hearing level, progressive hearing loss, Female, Sensorineural hearing loss, medicine.symptom, MYO3A

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c2aeeca3c490155301ddede1b4dfb5
https://doaj.org/article/e3a28149327449109b326fcf9b72c593

المؤلفون: Stephany El-Hayek, Sami Bizzari, Valérie Delague, Lara El-Bazzal, Pratibha Nair, Antoine Younan, Cybel Mehawej, Samantha Stora, André Mégarbané

المساهمون: delague, valérie, Centre for Arab Genomic Studies (CAGS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Bellevue, Institut Jérôme Lejeune, Unité de génétique médicale, Université Saint-Joseph de Beyrouth (USJ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)

المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63 (5), pp.103869. ⟨10.1016/j.ejmg.2020.103869⟩
European Journal of Medical Genetics, 2020, 63 (5), pp.103869. ⟨10.1016/j.ejmg.2020.103869⟩

مصطلحات موضوعية: Male, Connective Tissue Disorder, Hernia, Hernia, Inguinal, Telecanthus, Arachnodactyly, 0302 clinical medicine, Ptosis, Missense mutation, Diaphragmatic hernia, Connective Tissue Diseases, Genetics (clinical), Exome sequencing, Extracellular Matrix Proteins, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Homozygote, Marfanoid, Syndrome, General Medicine, 3. Good health, VCPKMT, Female, medicine.symptom, MYO3A, medicine.medical_specialty, Adolescent, Mutation, Missense, Genes, Recessive, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Young Adult, 03 medical and health sciences, Genetics, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, Recessive, Myosin Type III, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, 030304 developmental biology, Myosin Heavy Chains, EFEMP1, business.industry, Siblings, Methyltransferases, medicine.disease, Dermatology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Marfanoid habitus, Mutation, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a6a933a6508a85fd045ffcacbf9ed76
https://hal-amu.archives-ouvertes.fr/hal-02550686

المؤلفون: Felipe T. Salles, Raymond C. Merritt, Uri Manor, Gerard W. Dougherty, Christopher M. Yengo, Andréa C. Dosé, Aurea D. Sousa, Bechara Kachar, Judy E. Moore

المصدر: Nature cell biology

مصطلحات موضوعية: ESPN, Myosin IIIA, Protein filament, Mice, myosin IIIa, 0302 clinical medicine, length regulation, Chlorocebus aethiops, Myosin, Pseudopodia, 0303 health sciences, actin polymerization, Microfilament Proteins, actin protrusion, Ankyrin Repeat, 3. Good health, Cell biology, Actin Cytoskeleton, Protein Transport, medicine.anatomical_structure, COS Cells, WH2 motif, MYO3A, Protein Binding, Myosin light-chain kinase, hair cells, macromolecular substances, Biology, Transfection, espin, Article, 03 medical and health sciences, filopodia, deafness, otorhinolaryngologic diseases, medicine, Animals, Myosin Type III, Inner ear, Cilia, stereocilia, Actin, 030304 developmental biology, Stereocilia, Actin remodeling, Cell Biology, Rats, hearing, sense organs, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20efe4ce1abaf864f69dd3c754daa228
https://doi.org/10.1038/ncb1851