المؤلفون: Diego Angosto-Bazarra, Cristina Alarcón-Vila, Laura Hurtado-Navarro, María C. Baños, Jack Rivers-Auty, Pablo Pelegrín

المصدر: BMC Biology, Vol 20, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Pyroptosis, Gasdermin, Pejvakin, Evolution, Sepsis, Infection, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1741-7007

URL الوصول: https://doaj.org/article/13fc3eb2f2734fffa31708fb4f36ce7d

المؤلفون: María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D. Rendtorff, Miguel A. Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio del Castillo

المساهمون: Domínguez-Ruiz, María, Rodríguez-Ballesteros, Montserrat, Gandía, Marta, Gómez-Rosas, Elena, Villamar, Manuela, Scimemi, Pietro, Mancini, Patrizia, Rendtorff, Nanna D., Moreno-Pelayo, Miguel A., Tranebjaerg, Lisbeth, Medà, Carme, Santarelli, Rosamaria, del Castillo, Ignacio

مصطلحات موضوعية: non-syndromic hearing impairment, auditory neuropathy spectrum disorder, DFNB59, PJVK, pejvakin, genetic epidemiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/35052489; info:eu-repo/semantics/altIdentifier/wos/WOS:000756924300001; volume:13; issue:1; firstpage:1; lastpage:11; numberofpages:11; journal:GENES; http://hdl.handle.net/11573/1605303; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123018251

الاتاحة: http://hdl.handle.net/11573/1605303
https://doi.org/10.3390/genes13010149

المؤلفون: Diego Angosto-Bazarra (11920990), Cristina Alarcón-Vila (11920993), Laura Hurtado-Navarro (11920996), María C. Baños (11920999), Jack Rivers-Auty (5992754), Pablo Pelegrín (11921002)

مصطلحات موضوعية: Genetics, Pyroptosis, Gasdermin, Pejvakin, Evolution, Sepsis, Infection

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Evolutionary_analyses_of_the_gasdermin_family_suggest_conserved_roles_in_infection_response_despite_loss_of_pore-forming_functionality/18070858

الاتاحة: https://doi.org/10.6084/m9.figshare.18070858.v1

المؤلفون: Diego Angosto-Bazarra (11920990), Cristina Alarcón-Vila (11920993), Laura Hurtado-Navarro (11920996), María C. Baños (11920999), Jack Rivers-Auty (5992754), Pablo Pelegrín (11921002)

مصطلحات موضوعية: Genetics, Pyroptosis, Gasdermin, Pejvakin, Evolution, Sepsis, Infection

Relation: https://figshare.com/articles/journal_contribution/Additional_file_4_of_Evolutionary_analyses_of_the_gasdermin_family_suggest_conserved_roles_in_infection_response_despite_loss_of_pore-forming_functionality/18070867

الاتاحة: https://doi.org/10.6084/m9.figshare.18070867.v1

المؤلفون: Diego Angosto-Bazarra (11920990), Cristina Alarcón-Vila (11920993), Laura Hurtado-Navarro (11920996), María C. Baños (11920999), Jack Rivers-Auty (5992754), Pablo Pelegrín (11921002)

مصطلحات موضوعية: Genetics, Pyroptosis, Gasdermin, Pejvakin, Evolution, Sepsis, Infection

Relation: https://figshare.com/articles/journal_contribution/Additional_file_5_of_Evolutionary_analyses_of_the_gasdermin_family_suggest_conserved_roles_in_infection_response_despite_loss_of_pore-forming_functionality/18070873

الاتاحة: https://doi.org/10.6084/m9.figshare.18070873.v1

المؤلفون: Diego Angosto-Bazarra (11920990), Cristina Alarcón-Vila (11920993), Laura Hurtado-Navarro (11920996), María C. Baños (11920999), Jack Rivers-Auty (5992754), Pablo Pelegrín (11921002)

مصطلحات موضوعية: Genetics, Pyroptosis, Gasdermin, Pejvakin, Evolution, Sepsis, Infection

Relation: https://figshare.com/articles/journal_contribution/Additional_file_8_of_Evolutionary_analyses_of_the_gasdermin_family_suggest_conserved_roles_in_infection_response_despite_loss_of_pore-forming_functionality/18070882

الاتاحة: https://doi.org/10.6084/m9.figshare.18070882.v1

المؤلفون: Defourny, Jean, Aghaie, Alain, Perfettini, Isabelle, Avan, Paul, Delmaghani, Sedigheh, Petit, Christine

المصدر: Proceedings of the National Academy of Sciences of the United States of America (2019)

مصطلحات موضوعية: LC3B, intracochlear viral transduction, noise-induced hearing loss, pejvakin, pexophagy, Life sciences, Biochemistry, biophysics & molecular biology, Sciences du vivant, Biochimie, biophysique & biologie moléculaire

Relation: urn:issn:0027-8424; urn:issn:1091-6490; https://orbi.uliege.be/handle/2268/234172; info:hdl:2268/234172; https://orbi.uliege.be/bitstream/2268/234172/1/Defourny%20et%20al%202019%20.pdf; info:pmid:30936319

الاتاحة: https://orbi.uliege.be/handle/2268/234172
https://orbi.uliege.be/bitstream/2268/234172/1/Defourny%20et%20al%202019%20.pdf
https://doi.org/10.1073/pnas.1821844116

المؤلفون: Domínguez-Ruiz, María, Rodríguez-Ballesteros, Montserrat, Gandía, Marta, Gómez-Rosas, Elena, Villamar, Manuela, Scimemi, Pietro, Mancini, Patrizia, Rendtorff, Nanna D., Moreno-Pelayo, Miguel A., Tranebjaerg, Lisbeth, Medà, Carme, Santarelli, Rosamaria, Del Castillo, Ignacio

المصدر: Domínguez-Ruiz , M , Rodríguez-Ballesteros , M , Gandía , M , Gómez-Rosas , E , Villamar , M , Scimemi , P , Mancini , P , Rendtorff , N D , Moreno-Pelayo , M A , Tranebjaerg , L , Medà , C , Santarelli , R & Del Castillo , I 2022 , ' Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder ' , Genes , vol. 13 , no. 1 , 149 . https://doi.org/10.3390/genes13010149

مصطلحات موضوعية: Auditory neuropathy spectrum disorder, DFNB59, Genetic epidemiology, Non-syndromic hearing impairment, Pejvakin, PJVK, lang, psy

Relation: https://curis.ku.dk/ws/files/290538470/genes_13_00149.pdf; https://curis.ku.dk/portal/da/publications/novel-pathogenic-variants-in-pjvk-the-gene-encoding-pejvakin-in-subjects-with-autosomal-recessive-nonsyndromic-hearing-impairment-and-auditory-neuropathy-spectrum-disorder(4927f0c2-ea26-491c-9e25-f2e425ee6235).html

الاتاحة: https://curis.ku.dk/ws/files/290538470/genes_13_00149.pdf
https://curis.ku.dk/portal/da/publications/novel-pathogenic-variants-in-pjvk-the-gene-encoding-pejvakin-in-subjects-with-autosomal-recessive-nonsyndromic-hearing-impairment-and-auditory-neuropathy-spectrum-disorder(4927f0c2-ea26-491c-9e25-f2e425ee6235).html

المؤلفون: Dominguez-Ruiz M., Rodriguez-Ballesteros M., Gandia M., Gomez-Rosas E., Villamar M., Scimemi P., Mancini P., Rendtorff N. D., Moreno-Pelayo M. A., Tranebjaerg L., Meda C., Santarelli R., Del Castillo I.

المساهمون: Dominguez-Ruiz, M., Rodriguez-Ballesteros, M., Gandia, M., Gomez-Rosas, E., Villamar, M., Scimemi, P., Mancini, P., Rendtorff, N. D., Moreno-Pelayo, M. A., Tranebjaerg, L., Meda, C., Santarelli, R., Del Castillo, I.

مصطلحات موضوعية: Auditory neuropathy spectrum disorder, DFNB59, Genetic epidemiology, Non-syndromic hearing impairment, Pejvakin, PJVK, lang, psy

Relation: http://hdl.handle.net/11577/3413069

الاتاحة: http://hdl.handle.net/11577/3413069

المؤلفون: Fatemeh Azadegan Dehkordi, Effat Farrokhi, Mostafa Montazer Zohouri, Gholamreza Mobini, Maryam Taherzadeh, Marzieh Raiesi, Gol andam Banitalebi, Somaieh Raiesi, Mehdi Banitalebi, Morteza Hashemzadeh Chaleshtari

المصدر: Iranian South Medical Journal, Vol 13, Iss 3, Pp 163-170 (2010)

مصطلحات موضوعية: hearing impairment, pejvakin, DFNB59 gene, polymorphism, single- strand conformation polymorphism, hetero duplex analysis, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://ismj.bpums.ac.ir/browse.php?a_code=A-10-3-194&slc_lang=en&sid=1; https://doaj.org/toc/1735-4374; https://doaj.org/toc/1735-6954

URL الوصول: https://doaj.org/article/34f8d72d028a48a1b115e7a173bc05f5

المؤلفون: María, Domínguez-Ruiz, Montserrat, Rodríguez-Ballesteros, Marta, Gandía, Elena, Gómez-Rosas, Manuela, Villamar, Pietro, Scimemi, Patrizia, Mancini, Nanna D, Rendtorff, Miguel A, Moreno-Pelayo, Lisbeth, Tranebjaerg, Carme, Medà, Rosamaria, Santarelli, Ignacio, Del Castillo

المصدر: Genes

مصطلحات موضوعية: Male, pejvakin, genetic epidemiology, Adolescent, Infant, Nerve Tissue Proteins, Article, Pedigree, PJVK, Child, Preschool, Mutation, auditory neuropathy spectrum disorder, Humans, Female, Hearing Loss, Central, Child, Hearing Loss, DFNB59, Genetic Association Studies, non-syndromic hearing impairment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::29ad3f49c152aad38fa7b2fa976f51cb
https://pubmed.ncbi.nlm.nih.gov/35052489

المؤلفون: Diego Angosto-Bazarra (11920990), Cristina Alarcón-Vila (11920993), Laura Hurtado-Navarro (11920996), María C. Baños (11920999), Jack Rivers-Auty (5992754), Pablo Pelegrín (11921002)

مصطلحات موضوعية: Genetics, Pyroptosis, Gasdermin, Pejvakin, Evolution, Sepsis, Infection

Relation: https://figshare.com/articles/dataset/Additional_file_2_of_Evolutionary_analyses_of_the_gasdermin_family_suggest_conserved_roles_in_infection_response_despite_loss_of_pore-forming_functionality/18070861

الاتاحة: https://doi.org/10.6084/m9.figshare.18070861.v1

المؤلفون: Diego Angosto-Bazarra (11920990), Cristina Alarcón-Vila (11920993), Laura Hurtado-Navarro (11920996), María C. Baños (11920999), Jack Rivers-Auty (5992754), Pablo Pelegrín (11921002)

مصطلحات موضوعية: Genetics, Pyroptosis, Gasdermin, Pejvakin, Evolution, Sepsis, Infection

Relation: https://figshare.com/articles/dataset/Additional_file_3_of_Evolutionary_analyses_of_the_gasdermin_family_suggest_conserved_roles_in_infection_response_despite_loss_of_pore-forming_functionality/18070864

الاتاحة: https://doi.org/10.6084/m9.figshare.18070864.v1

المؤلفون: Diego Angosto-Bazarra (11920990), Cristina Alarcón-Vila (11920993), Laura Hurtado-Navarro (11920996), María C. Baños (11920999), Jack Rivers-Auty (5992754), Pablo Pelegrín (11921002)

مصطلحات موضوعية: Genetics, Pyroptosis, Gasdermin, Pejvakin, Evolution, Sepsis, Infection

Relation: https://figshare.com/articles/dataset/Additional_file_6_of_Evolutionary_analyses_of_the_gasdermin_family_suggest_conserved_roles_in_infection_response_despite_loss_of_pore-forming_functionality/18070876

الاتاحة: https://doi.org/10.6084/m9.figshare.18070876.v1

المؤلفون: Diego Angosto-Bazarra (11920990), Cristina Alarcón-Vila (11920993), Laura Hurtado-Navarro (11920996), María C. Baños (11920999), Jack Rivers-Auty (5992754), Pablo Pelegrín (11921002)

مصطلحات موضوعية: Genetics, Pyroptosis, Gasdermin, Pejvakin, Evolution, Sepsis, Infection

Relation: https://figshare.com/articles/dataset/Additional_file_7_of_Evolutionary_analyses_of_the_gasdermin_family_suggest_conserved_roles_in_infection_response_despite_loss_of_pore-forming_functionality/18070879

الاتاحة: https://doi.org/10.6084/m9.figshare.18070879.v1

المؤلفون: Sedigheh Delmaghani, Christine Petit, Alain Aghaie, Paul Avan, Isabelle Perfettini, Jean Defourny

المساهمون: Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ED 515 - Complexité du vivant, Sorbonne Université (SU), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Equipe Biophysique Neurosensorielle [Neuro-Dol], Neuro-Dol (Neuro-Dol), Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work was supported by the Louis-Jeantet Foundation, Fondation Bettencourt Schueller, Fondation Agir pour l’Audition, Humanis Novalis-Taitbout, Réunica-Prévoyance, BNP Paribas, and the French Investissements d’Avenir program (ANR-10-LABX-65, to C.P.)., Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Chaire Génétique et physiologie cellulaire

المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (16), pp.8010-8017. ⟨10.1073/pnas.1821844116⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, 116 (16), pp.8010-8017. ⟨10.1073/pnas.1821844116⟩

مصطلحات موضوعية: intracochlear viral transduction, pejvakin, [SDV]Life Sciences [q-bio], Peroxisome Proliferation, medicine.disease_cause, Mice, 03 medical and health sciences, 0302 clinical medicine, Hair Cells, Auditory, Macroautophagy, medicine, Animals, LC3B, Receptor, 030304 developmental biology, 0303 health sciences, Multidisciplinary, biology, Chemistry, Autophagy, Proteins, Transfection, Peroxisome, pexophagy, Cell biology, noise-induced hearing loss, PNAS Plus, Hearing Loss, Noise-Induced, Chaperone (protein), biology.protein, Microtubule-Associated Proteins, MAP1LC3B, 030217 neurology & neurosurgery, Oxidative stress

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b54475bf708a51120b8519dc59e61c2
https://hal.science/hal-02318679

المؤلفون: Morteza Hashmzadeh, Azam Asgari, Fatemeh Azadegan, Maryam Taherzadeh, Mohsen Noorbakhsh, Effat Farrokhi, Marzieh Abolhasani

المصدر: Majallah-i taḥqīqāt-i ̒ulūm-i pizishkī-i Zāhidān, Vol 12, Iss 3, Pp 19-23 (2010)

مصطلحات موضوعية: pejvakin, deafness, lcsh:R, lcsh:Medicine, PCR-SSCP, heteroduplex analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::f379055064a47b5690556d02898781d7
http://www.zjrms.ir/browse.php?a_id=674&sid=1&slc_lang=en

المؤلفون: Toshihiko Shiroishi, Tomoaki Fujii, Hiromitu Komiyama, Tomoko Sagai, Shigekazu Tanaka, Masaru Tamura, Kiyoshi Ezawa, Kenta Sumiyama, Aya Aoki

المصدر: Genomics. 89(5):618-629

مصطلحات موضوعية: Gene duplication, Evolution, Molecular Sequence Data, Mutant, Gene Expression, Nerve Tissue Proteins, Genomics, Dfna5, Biology, Epithelium, Mice, Chromosome 15, Molecular evolution, Gene expression, Genetics, Animals, Humans, Amino Acid Sequence, Gene, Phylogeny, Skin, Sequence Homology, Amino Acid, Neoplasm Proteins, Gastrointestinal Tract, Mice, Inbred C57BL, Receptors, Estrogen, Dfnb59 (pejvakin), Organ Specificity, Human genome, Gsdm family

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd47b989850574c86959d01bdfe4548a

المؤلفون: Vrijens, K, Van Camp, G, Van Laer, Lut

المصدر: GENE ; ISSN: 0378-1119

مصطلحات موضوعية: Medicine and Health Sciences, TRANSCRIPTION FACTORS, CELL, NONSYNDROMIC HEARING IMPAIRMENT, CHINESE FAMILY, DNA-SEQUENCES, GENE, IDENTIFICATION, MUTATION, PEJVAKIN, CANCER

Relation: https://biblio.ugent.be/publication/800189; http://hdl.handle.net/1854/LU-800189; http://dx.doi.org/10.1016/j.gene.2008.11.017

الاتاحة: https://biblio.ugent.be/publication/800189
http://hdl.handle.net/1854/LU-800189
https://doi.org/10.1016/j.gene.2008.11.017

المؤلفون: Collin, R.W., Kalay, E., Oostrik, J., Caylan, R., Wollnik, B., Arslan, S., den Hollander, A.I., Birinci, Y., Lichtner, P., Strom, T.M., Toraman, B., Hoefsloot, L.H., Cremers, C.W., Brunner, H.G., Cremers, F.P., Karaguzel, A., Kremer, H.

المصدر: Hum. Mutat. 28, 718-723 (2007)

مصطلحات موضوعية: DFNB59, pejvakin, nonsyndromic hearing loss, ARNSHI, consanguineous, deafness

Relation: info:eu-repo/semantics/altIdentifier/pmid/17373699; info:eu-repo/semantics/altIdentifier/wos/000247627200012; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIdentifi; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=2727; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=2727
https://doi.org/10.1002/humu.20510