المؤلفون: Swietlik, Emilia

المساهمون: Morrell, Nicholas, Graf, Stefan

مصطلحات موضوعية: forward phenotyping, deep phenotyping, computational phenotyping, clinical phenotyping, forward genetics, reverse genetics, reverse phenotyping, KDR, VEGFR2, COL6A5, GDF2, KCO, pulmonary arterial hypertension, BMPR2

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.841377

المؤلفون: Rasheed, Ameer Abu Bakr, Birling, Marie-Christine, Lauria, Giuseppe, Gaveriaux-Ruff, Claire, Hérault, Yann

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Clinique de la Souris (ICS), Fondazione IRCCS Istituto Neurologico "Carlo Besta", Biotechnologie et signalisation cellulaire (BSC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), ANR-10-INBS-0007,PHENOMIN,INFRASTRUCTURE NATIONALE EN PHENOGENOMIQUE SOURIS(2010), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010), European Project: 721841

المصدر: ISSN: 0938-8990.

مصطلحات موضوعية: COL6A5, chronic neuropathic itch, pruritus, CRISPR-Cas technology, scratching, spontaneous itch, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38523187; info:eu-repo/grantAgreement//721841/EU/PAIN-Net/; PUBMED: 38523187

الاتاحة: https://hal.science/hal-04701956
https://hal.science/hal-04701956v1/document
https://hal.science/hal-04701956v1/file/86c6cb40-9ea2-4e2e-806a-d108b3262148.pdf
https://doi.org/10.1007/s00335-024-10032-9

المؤلفون: Di Martino, Alberto, Cescon, Matilde, D’Agostino, Claudio, Schilardi, Francesco, Sabatelli, Patrizia, Merlini, Luciano, Faldini, Cesare

المساهمون: Di Martino, Alberto, Cescon, Matilde, D’Agostino, Claudio, Schilardi, Francesco, Sabatelli, Patrizia, Merlini, Luciano, Faldini, Cesare

مصطلحات موضوعية: Bethlem myopathy, COL6A1, COL6A2, COL6A3, COL6A4, COL6A5, COL6A6, Ullrich congenital muscular dystrophy, animal model, collagen type VI, limb deformitie, myosclerosis myopathy, orthopedic surgery

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36982167; info:eu-repo/semantics/altIdentifier/wos/WOS:000956871100001; volume:24; issue:6; firstpage:1; lastpage:22; numberofpages:22; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11585/957067; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85151109882; https://www.mdpi.com/1422-0067/24/6/5095

الاتاحة: https://hdl.handle.net/11585/957067
https://doi.org/10.3390/ijms24065095
https://www.mdpi.com/1422-0067/24/6/5095

المؤلفون: Yu Zhang, Dongyun Zhang, Yanan Xu, Yuting Qin, Ming Gu, Weidong Cai, Zhixian Bai, Xinjiang Zhang, Rui Chen, Yingang Sun, Yanzhi Wu, Zeying Wang

المصدر: Frontiers in Genetics, Vol 12 (2022)

مصطلحات موضوعية: cashmere fineness, translatomics, Ribo-seq, COL6A5, liaoning cashmere goat, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.775499/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1c29069f93ce4475a53cda968c4eefc8

المؤلفون: Li-Feng Sun, Ya-Li Yang, Mei-Yue Wang, Hua-Shan Zhao, Tian-xia Xiao, Meng-Xia Li, Bao-Bei Wang, Chen Huang, Pei-Gen Ren, Jian V. Zhang

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

مصطلحات موضوعية: dihydrotestosterone, ovary, gonad fat, Col6a5, hypertrophy, lipid metabolism, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.669189/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/71cf0c2d71944877966e09b811e2edd1

المؤلفون: Claudia Strafella, Valerio Caputo, Giulietta Minozzi, Filippo Milano, Mauro Arcangeli, Nagat Sobhy, Rania Abdelmaksood, Doaa Hashad, Efstratios Vakirlis, NOVELLI, GIUSEPPE, Raffaella Cascella, Emiliano Giardina

المساهمون: S. Claudia, C. Valerio, G. Minozzi, M. Filippo, A. Mauro, S. Nagat, A. Rania, H. Doaa, V. Efstratio, G. Novelli, C. Raffaella, G. Emiliano

مصطلحات موضوعية: Atopic Eczema, Genetic Analysi, COL6A5, COL8A1, COL10A1, Settore AGR/17 - Zootecnica Generale e Miglioramento Genetico, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000471880700001; volume:2019; firstpage:1; lastpage:7; numberofpages:7; journal:BIOMED RESEARCH INTERNATIONAL; http://hdl.handle.net/2434/651054; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067812882

الاتاحة: http://hdl.handle.net/2434/651054
https://doi.org/10.1155/2019/3457898

المؤلفون: Rasheed, Ameer Abu Bakr

المساهمون: Strasbourg, Hérault, Yann

مصطلحات موضوعية: COL6A5, Démangeaison neuropathique chronique, Prurit, Technologie CRISPR-Cas, Barrière cutanée, Grattage, Démangeaison spontanée, Chronic neuropathic itch, Pruritus, CRISPR-Cas technology, Skin barrier, Scratching, Spontaneous itch, 612.8, 616.5

Relation: http://www.theses.fr/2023STRAJ103/document

الاتاحة: http://www.theses.fr/2023STRAJ103/document

المؤلفون: Martinelli-Boneschi, Filippo, Colombi, Marina, Castori, Marco, Devigili, Grazia, Eleopra, Roberto, Malik, Rayaz A., Ritelli, Marco, Zoppi, Nicoletta, Dordoni, Chiara, Sorosina, Melissa, Grammatico, Paola, Fadavi, Hassan, Gerrits, Monique M., Almomani, Rowida, Faber, Catharina G., Merkies, Ingemar S. J., Toniolo, Daniela, Cocca, Massimiliano, Doglioni, Claudio, Waxman, Stephen G., Dib-Hajj, Sulayman D., Taiana, Michela M., Sassone, Jenny, Lombardi, Raffaella, Cazzato, Daniele, Zauli, Andrea, Santoro, Silvia, Marchi, Margherita, Lauria, Giuseppe

المصدر: Martinelli-Boneschi , F , Colombi , M , Castori , M , Devigili , G , Eleopra , R , Malik , R A , Ritelli , M , Zoppi , N , Dordoni , C , Sorosina , M , Grammatico , P , Fadavi , H , Gerrits , M M , Almomani , R , Faber , C G , Merkies , I S J , Toniolo , D , Cocca , M , Doglioni , C , Waxman , S G , Dib-Hajj , S D , Taiana , M M , Sassone , J ....

مصطلحات موضوعية: itch, COL6A5, small fibre neuropathy, neuropathic pain, SMALL FIBER NEUROPATHY, SENSORY NEURONS, CHRONIC PRURITUS, ATOPIC-DERMATITIS, SODIUM-CHANNELS, PAIN, NOCICEPTORS, GABAPENTIN, SYMPTOMS, CHAINS

وصف الملف: application/pdf

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/302dc662-12b5-4bad-8239-283794e6a2e9
https://doi.org/10.1093/brain/aww343
https://cris.maastrichtuniversity.nl/ws/files/77662569/Faber_2017_COL6A5_variants_in_familial_neuropathic.pdf

المؤلفون: Swietlik, Emilia Maria

مصطلحات موضوعية: clinical phenotyping, GDF2, forward phenotyping, deep phenotyping, BMPR2, computational phenotyping, KCO, forward genetics, reverse genetics, reverse phenotyping, VEGFR2, KDR, pulmonary arterial hypertension, COL6A5

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e9f74921edabd3c854b9ad6e4e094a5b

المؤلفون: Li-Feng, Sun, Ya-Li, Yang, Mei-Yue, Wang, Hua-Shan, Zhao, Tian-Xia, Xiao, Meng-Xia, Li, Bao-Bei, Wang, Chen, Huang, Pei-Gen, Ren, Jian V, Zhang

المصدر: Frontiers in Cell and Developmental Biology

مصطلحات موضوعية: endocrine system, Cell and Developmental Biology, lipid metabolism, ovary, Col6a5, gonad fat, hypertrophy, dihydrotestosterone, Original Research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ae9a86d3f0b54b651f9c26fe8a48ecc1
https://pubmed.ncbi.nlm.nih.gov/34109177

المؤلفون: Li-Feng Sun (5279738), Ya-Li Yang (5279735), Mei-Yue Wang (10860849), Hua-Shan Zhao (5394428), Tian-xia Xiao (10860852), Meng-Xia Li (385466), Bao-Bei Wang (5279732), Chen Huang (202847), Pei-Gen Ren (4540237), Jian V. Zhang (10860855)

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), dihydrotestosterone, ovary, gonad fat, Col6a5, hypertrophy, lipid metabolism

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Inhibition_of_Col6a5_Improve_Lipid_Metabolism_Disorder_in_Dihydrotestosterone-Induced_Hyperandrogenic_Mice_docx/14659893

الاتاحة: https://doi.org/10.3389/fcell.2021.669189.s001

المؤلفون: Daniele Cazzato, Stephen G. Waxman, Raffaella Lombardi, Paola Grammatico, Nicoletta Zoppi, Margherita Marchi, Sulayman D. Dib-Hajj, Roberto Eleopra, Jenny Sassone, Hassan Fadavi, Marco Ritelli, Claudio Doglioni, Catharina G. Faber, Monique M. Gerrits, Daniela Toniolo, Grazia Devigili, Ingemar S. J. Merkies, Silvia Santoro, Marina Colombi, Chiara Dordoni, Massimiliano Cocca, Marco Castori, Michela Taiana, Giuseppe Lauria, Filippo Martinelli-Boneschi, Andrea Zauli, Rowida Almomani, Rayaz A. Malik, Melissa Sorosina

المساهمون: Martinelli Boneschi, Filippo, Colombi, Marina, Castori, Marco, Devigili, Grazia, Eleopra, Roberto, Malik, Rayaz A, Ritelli, Marco, Zoppi, Nicoletta, Dordoni, Chiara, Sorosina, Melissa, Grammatico, Paola, Fadavi, Hassan, Gerrits, Monique M, Almomani, Rowida, Faber, Catharina G, Merkies, Ingemar S. J, Toniolo, Daniela, Cocca, Massimiliano, Doglioni, Claudio, Waxman, Stephen G, Dib Hajj, Sulayman D, Taiana, Michela M, Sassone, Jenny, Lombardi, Raffaella, Cazzato, Daniele, Zauli, Andrea, Santoro, Silvia, Marchi, Margherita, Lauria, Giuseppe, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, Filippo, Martinelli Boneschi, Marina, Colombi, Marco, Castori, Grazia, Devigili, Roberto, Eleopra, Rayaz, Malik, Marco, Ritelli, Nicoletta, Zoppi, Chiara, Dordoni, Melissa, Sorosina, Paola, Grammatico, Hassan, Fadavi, Monique, M. Gerrit, Rowida, Almomani, Catharina, G. Faber, Ingemar, S. J. Merkie, Daniela, Toniolo, Massimiliano, Cocca, Stephen, G. Waxman, Sulayman, D. Dib Hajj, Michela, M. Taiana, SASSONE PAGANO, Jenny, Raffaella, Lombardi, Daniele, Cazzato, Andrea, Zauli, Silvia, Santoro, Margherita, Marchi, Giuseppe, Lauria

المصدر: Brain, 140, 555-567. Oxford University Press

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Diabetic neuropathy, SYMPTOMS, NOCICEPTORS, DNA Mutational Analysis, 0302 clinical medicine, Missense mutation, ATOPIC-DERMATITIS, CHAINS, itch, Exome sequencing, Skin, medicine.diagnostic_test, small fibre neuropathy, Medicine (all), COL6A5, neuropathic pain, PAIN, Peripheral Nervous System Diseases, SODIUM-CHANNELS, Middle Aged, Itch, Neuropathic pain, Small fibre neuropathy, Arts and Humanities (miscellaneous), Neurology (clinical), GABAPENTIN, Female, Haploinsufficiency, medicine.drug, Joint hypermobility, Adult, medicine.medical_specialty, Gabapentin, Collagen Type VI, 03 medical and health sciences, CHRONIC PRURITUS, medicine, Humans, Family Health, business.industry, Pruritus, Genetic Variation, SMALL FIBER NEUROPATHY, medicine.disease, 030104 developmental biology, Immunology, Skin biopsy, SENSORY NEURONS, business, 030217 neurology & neurosurgery

وصف الملف: STAMPA; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de2615132394ff50a075d974b6ab17a7
https://hdl.handle.net/11368/2894459