المؤلفون: Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al-Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya T. Hagos, Wijdan Al-Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S. A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed Eddine Gallouzi, Fowzan S. Alkuraya

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Long-read sequencing, Autozygome, STX3, ABHD12, C1orf109, FLVCR1, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/fd9de43c2bca4f7999135a735e07781d

المؤلفون: Himani Dey, Mariajose Perez-Hurtado, Ruth Heidelberger

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 19, p 10665 (2024)

مصطلحات موضوعية: syntaxin, stx3, retina, ribbon synapse, SNARE, retinal degeneration, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/19/10665; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/ae40dc12c92c490f90bf72fb27c6a8f7

الاتاحة: https://doi.org/10.3390/ijms251910665
https://doaj.org/article/ae40dc12c92c490f90bf72fb27c6a8f7

المؤلفون: Mariajose Perez-Hurtado, Calvin Dao, Amanda E. Saenz, Ruth Heidelberger

المصدر: Frontiers in Ophthalmology, Vol 3 (2023)

مصطلحات موضوعية: STX3, syntaxin 3B, SNAREopathy, retinal degeneration, retinal dystrophy, EOSRD, Medicine

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fopht.2023.1208805/full; https://doaj.org/toc/2674-0826

URL الوصول: https://doaj.org/article/8cac4d5123144973a589e51acf71e1b8

المؤلفون: Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al-Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya T. Hagos, Wijdan Al-Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S. A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed Eddine Gallouzi, Fowzan S. Alkuraya

مصطلحات موضوعية: Genetics, Long-read sequencing, Autozygome, STX3, ABHD12, C1orf109, FLVCR1, NID1, PKHD1, SHFM

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Beyond_the_exome_utility_of_long-read_whole_genome_sequencing_in_exome-negative_autosomal_recessive_diseases/24819471

الاتاحة: https://doi.org/10.6084/m9.figshare.24819471.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Beyond_the_exome_utility_of_long-read_whole_genome_sequencing_in_exome-negative_autosomal_recessive_diseases/24819471

المؤلفون: Changsen Leng, Yue Sun, Sven C. D. van IJzendoorn

المصدر: Journal of Clinical Medicine; Volume 10; Issue 17; Pages: 3935

مصطلحات موضوعية: microvillus inclusion disease, MYO5B, STX3, preterm birth, premature birth, congenital microvillus atrophy, congenital diarrheal disorder, intrahepatic cholestasis, PFIC

وصف الملف: application/pdf

Relation: Gastroenterology & Hepatopancreatobiliary Medicine; https://dx.doi.org/10.3390/jcm10173935

الاتاحة: https://doi.org/10.3390/jcm10173935

المؤلفون: Perez-Hurtado, Mariajose, Dao, Calvin, Saenz, Amanda E, Heidelberger, Ruth

المصدر: Journal Articles

مصطلحات موضوعية: STX3, syntaxin 3B, SNAREopathy, retinal degeneration, retinal dystrophy, EOSRD, age, Anatomy, Medical Anatomy, Medical Neurobiology, Medical Sciences, Medical Specialties, Medicine and Health Sciences, Ophthalmology

وصف الملف: application/pdf

Relation: https://digitalcommons.library.tmc.edu/uthmed_docs/1361; https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/2339/viewcontent/nihms_1925043.pdf

الاتاحة: https://digitalcommons.library.tmc.edu/uthmed_docs/1361
https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/2339/viewcontent/nihms_1925043.pdf

المؤلفون: Dhekne, Herschel, Pylypenko, Olena, Overeem, Arend, Ferreira, Rosaria, van Der Velde, K. Joeri, Rings, Edmond H.H.M., Posovszky, Carsten, Swertz, Morris, Houdusse, Anne, van Ijzendoorn, Sven C.D.

المساهمون: University of Groningen Groningen, Stanford University, Motilité structurale, Compartimentation et dynamique cellulaires (CDC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie Paris -Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie Paris -Centre National de la Recherche Scientifique (CNRS), University Medical Center Groningen Groningen (UMCG), Erasmus University Rotterdam, Universiteit Leiden = Leiden University, Universitätsklinikum Ulm - University Hospital of Ulm, Contract Grant Sponsors: Daniel Courtney Trust Foundation, University Medical Center Groningen, Association pour la Recherche sur le Cancer (SFI20121205398)., ANR-13-BSV8-0019,MyoDesign-Partners,Fonctions cellulaires de la Myosine V et de la Myosine X – Rôle de leurs partenaires et de leur architecture spécifique.(2013)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: congenital diarrheal diseases, enteropathy, microvillus inclusion disease, munc18-2, MYO5B, myosin VB, STX3, STXBP2, syntaxin-3, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]

Relation: info:eu-repo/semantics/altIdentifier/pmid/29266534; PUBMED: 29266534; PUBMEDCENTRAL: PMC5838515

الاتاحة: https://hal.science/hal-02349537
https://hal.science/hal-02349537v1/document
https://hal.science/hal-02349537v1/file/main.pdf
https://doi.org/10.1002/humu.23386

المؤلفون: Dhekne, Herschel S, Pylypenko, Olena, Overeem, Arend W, Zibouche, Malik, Ferreira, Rosaria J, van der Velde, K Joeri, Rings, Edmond H H M, Posovszky, Carsten, van der Sluijs, Peter, Swertz, Morris A, Houdusse, Anne, van IJzendoorn, Sven C D

المساهمون: Sub Cellular Protein Chemistry, Cellular Protein Chemistry

مصطلحات موضوعية: congenital diarrheal diseases, enteropathy, microvillus inclusion disease, munc18-2, MYO5B, myosinVB, STX3, STXBP2, syntaxin-3

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/376545

الاتاحة: https://dspace.library.uu.nl/handle/1874/376545

المؤلفون: Wang, Grace

مصطلحات موضوعية: nervous system, Biology, Neurobiology, Long-term potentiation, Memory, Learning, Stx3

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a3ea59e31dc6b5c6cdb3f232657ac79b

المؤلفون: Gostinicchi, Marion, Brunet, Valentine

المساهمون: Aix-Marseille Université - École de médecine (AMU SMPM MED), Aix-Marseille Université - Faculté des sciences médicales et paramédicales (AMU SMPM), Aix Marseille Université (AMU)-Aix Marseille Université (AMU), Alexandre Fabre

المصدر: Sciences du Vivant [q-bio]. 2021

مصطلحات موضوعية: RFX6, EPCAM, [SDV]Life Sciences [q-bio], PCSK1, Atrésie intestinale multiple, SPINT2, TTC37, Syndrome oto-ostéo-hépato-entérique, Syndrome tricho-hépato-entérique, TTC7A, UNC45A, MYO5B, Atrophie micro- villositaire, STXBP2, SKIV2L, Entéro-endocriniennes, NEUROG3, Diarrhées, Entéropathie congénitale, Dysplasies épithéliales, Nutrition parentérale, Transplantation intestinale, STX3, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c6ebc966b3ef5a10f234131d9e968911
https://dumas.ccsd.cnrs.fr/dumas-03445630

المؤلفون: Laura E Collins, Joseph eDeCourcey, Keith D Rochfort, Maja eKristek, Christine E Loscher

المصدر: Frontiers in Immunology, Vol 5 (2015)

مصطلحات موضوعية: Dendritic Cells, IL-6, SNAREs, MIP-1α, STX3, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fimmu.2014.00691/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/deb787c865754484b1f53e253cef29ab

المؤلفون: Caralli, Morgane

المساهمون: Université des Antilles - UFR des sciences médicales Hyacinthe Bastaraud (UA UFR SM), Université des Antilles (UA), Alexandre Fabre

المصدر: https://dumas.ccsd.cnrs.fr/dumas-03482378 ; Hépatology and Gastroenterology. 2020.

مصطلحات موضوعية: Diarrhée, Maladies congénitales, Intestins -- Maladies, Cellules intestinales, Gènes, Alimentation parentérale, Diarrhée -- Génétique, Cellules épithéliales, Proprotéine convertases, Sérine-peptidases, Diarrhée -- génétique -- Dissertation universitaire, Skiv2l, Ttc37, Myo5b, Stx3, Neurog3, diarrhée chronique congénitale, MESH: Diarrhée -- génétique, MESH: Molécule d'adhérence des cellules épithéliales, MESH: Nutrition parentérale, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology

Relation: dumas-03482378; https://dumas.ccsd.cnrs.fr/dumas-03482378; https://dumas.ccsd.cnrs.fr/dumas-03482378/document; https://dumas.ccsd.cnrs.fr/dumas-03482378/file/ThEse__Caralli_Morgane.pdf; PPN: 270892338

الاتاحة: https://dumas.ccsd.cnrs.fr/dumas-03482378
https://dumas.ccsd.cnrs.fr/dumas-03482378/document
https://dumas.ccsd.cnrs.fr/dumas-03482378/file/ThEse__Caralli_Morgane.pdf

المؤلفون: Visser, D.Y.

المساهمون: Houwen, RHJ, Coffer, Paul, University Utrecht

مصطلحات موضوعية: fat intolerance, ANKZF1, IBD, Next-generation sequencing, STX3, microvillus inclusion disease, DGAT1

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::868cd227be6b90c8f74357cc3e23a84c
https://dspace.library.uu.nl/handle/1874/356489

مصطلحات موضوعية: fat intolerance, ANKZF1, IBD, Next-generation sequencing, STX3, microvillus inclusion disease, DGAT1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::bd411fbe3548ec97f06123f44b716763
https://hdl.handle.net/1874/356489

المؤلفون: Lukas A. Huber, Andreas R. Janecke, Kristian Pfaller, Michael W. Hess, Georg F. Vogel, Thomas Müller

المصدر: Molecular and Cellular Pediatrics

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Brush border, Mini Review, Vesicle, Pharmaceutical Science, Apical plasma membrane, Biology, Microvillus, Cell biology, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, MYO5B, Complementary and alternative medicine, Watery diarrhoea, medicine, Pharmacology (medical), MVID, Microvillus inclusion disease, STX3, Enteropathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd822d398aaf18ac73c630a7e5ab0d98
https://doi.org/10.1186/s40348-016-0031-0

المؤلفون: Schneeberger, K.

المساهمون: Nieuwenhuis, E.E.S., Middendorp, S., University Utrecht

مصطلحات موضوعية: MYO5B, stem cells, MVID, STX3, intestine, organoids, microvillus inclusion disease

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b4fe2d1b81a4bc8877d39a5af85f9d59
https://dspace.library.uu.nl/handle/1874/319179

مصطلحات موضوعية: MYO5B, stem cells, MVID, STX3, intestine, organoids, microvillus inclusion disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::8972a9d26620688e56a8fdf4dac870af
https://hdl.handle.net/1874/319179

المؤلفون: Vogel, Georg, Hess, Michael, Pfaller, Kristian, Huber, Lukas, Janecke, Andreas, Müller, Thomas

مصطلحات موضوعية: MVID, Microvillus inclusion disease, Enteropathy, MYO5B, STX3

Relation: http://www.molcellped.com/content/3/1/3

الاتاحة: http://www.molcellped.com/content/3/1/3

المؤلفون: Dhekne, H.S. (Herschel), Pylypenko, O. (Olena), Overeem, A.W. (Arend W.), Ferreira, R.J. (Rosaria J.), van der Velde, K.J. (K. Joeri), Rings, E.H.H.M. (Edmond), Posovszky, C. (Carsten), Swertz, M.A. (Morris A.), Houdusse, A. (Anne), IJzendoorn, S.C.D. (Sven) van

مصطلحات الفهرس: Congenital diarrheal diseases, Enteropathy, Microvillus inclusion disease, Munc18-2, MYO5B, Myosin VB, STX3, STXBP2, Syntaxin-3, info:eu-repo/semantics/article

URL: http://repub.eur.nl/pub/104184