المؤلفون: Bademci, Guney, Lachgar-Ruiz, María, Deokar, Mangesh, Zafeer, Mohammad Faraz, Abad, Clemer, Baylan, Muzeyyen Yildirim, Ingham, Neil, Chen, Jing, Sineni, Claire, Vadgama, Nirmal, Karakikes, Ioannis, Guo, Shengru, Duman, Duygu, Singh, Nitu, Harlalka, Gaurav, Chioza, Barry, Walz, Katherina, Steel, Karen P., Nasir, Jamal, Tekin, Mustafa

المصدر: Bademci , G , Lachgar-Ruiz , M , Deokar , M , Zafeer , M F , Abad , C , Baylan , M Y , Ingham , N , Chen , J , Sineni , C , Vadgama , N , Karakikes , I , Guo , S , Duman , D , Singh , N , Harlalka , G , Chioza , B , Walz , K , Steel , K P , Nasir , J & Tekin , M 2022 , ' Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and ....

مصطلحات موضوعية: Animals, Hearing Loss, Sensorineural/genetics, Humans, Loss of Function Mutation, Mice, Receptor, Notch2/genetics, Receptors, Cell Surface/genetics, Stereocilia/metabolism, NOTCH2, MINAR2, Notch2 - genetics - metabolism, Sensorineural - genetics, Stereocilia - metabolism, deafness, autosomal recessive, Cell Surface - genetics, Cell Surface, Sensorineural, Stereocilia

وصف الملف: application/pdf

العلاقة: https://pure.northampton.ac.uk/en/publications/6c21b4bf-a770-47f9-baa2-d82bea202333Test

الإتاحة: https://doi.org/10.1073/pnas.2204084119Test
https://pure.northampton.ac.uk/en/publications/6c21b4bf-a770-47f9-baa2-d82bea202333Test
http://nectar.northampton.ac.uk/id/document/35966Test

المساهمون: College of Medicine, Dept. of Neurosurgery, Eunji Hwang, Ki-Chun Yoo, Seok-Gu Kang, Rae-Kwon Kim, Yan-Hong Cui, Hae-June Lee, Min-Jung Kim, Jae-Seong Lee, In-Gyu Kim, Yongjoon Suh, Su-Jae Lee, Kang, Seok Gu

مصطلحات موضوعية: Aged, Animals, Apoptosis, Biomarkers, Tumor/genetics, Tumor/metabolism, Blotting, Western, Cell Movement, Cell Proliferation, Female, Glioblastoma/genetics, Glioblastoma/metabolism, Glioblastoma/pathology, Humans, Immunoenzyme Techniques, Mice, Inbred BALB C, Nude, Protein Kinase C-delta/genetics, Protein Kinase C-delta/metabolism, Proto-Oncogene Proteins c-met/genetics, Proto-Oncogene Proteins c-met/metabolism, RNA, Messenger/genetics, Real-Time Polymerase Chain Reaction, Receptor, Notch2/genetics, Notch2/metabolism, Reverse Transcriptase Polymerase Chain Reaction

وصف الملف: 4890~4902

العلاقة: ONCOTARGET; J02421; OAK-2016-01631; https://ir.ymlib.yonsei.ac.kr/handle/22282913/146649Test; T201601017; ONCOTARGET , Vol.7(4) : 4890-4902, 2016; 47395

الإتاحة: https://doi.org/10.18632/oncotarget.6640Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/146649Test

المساهمون: In Sik Hwang, Saeam Shin, Yoo Hong Min, Seung-Tae Lee, Jong Rak Choi, Min, Yoo Hong, Shin, Sae Am, Lee, Seung Tae, Choi, Jong Rak, Hwang, In Sik

مصطلحات موضوعية: Alternative Splicing, Humans, Leukemia, Myeloid, Acute/genetics, Receptor, Notch2/genetics, fms-Like Tyrosine Kinase 3/genetics

العلاقة: BLOOD; J00341; OAK-2015-02090; https://ir.ymlib.yonsei.ac.kr/handle/22282913/141250Test; http://www.bloodjournal.org/content/126/14/1731.long?sso-checked=trueTest; T201503678; BLOOD, Vol.126(14) : 1731-1732, 2015

الإتاحة: https://doi.org/10.1182/blood-2015-07-657825Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/141250Test
http://www.bloodjournal.org/content/126/14/1731.long?sso-checked=trueTest

المساهمون: Yoko Narumi, Byung-Joo Min, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon-Sok Chung, Ok-Hwa Kim, Yoshimitsu Fukushima, Woong-Yang Park, Gen Nishimura, Rhee, Yumie

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Codon, Nonsense, DNA Mutational Analysis, Exons, Genetic Association Studies, Hajdu-Cheney Syndrome/diagnostic imaging, Hajdu-Cheney Syndrome/genetics, Humans, Middle Aged, Radiography, Receptor, Notch2/genetics, Young Adult, Hajdu �밅heney syndrome, serpentine fibula�릔olycystic kidney syndrome, NOTCH2, osteolysis, osteoporosis

العلاقة: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; J00091; OAK-2013-01764; https://ir.ymlib.yonsei.ac.kr/handle/22282913/87881Test; T201303214; AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol.161A(3) : 518-526, 2013

الإتاحة: https://doi.org/10.1002/ajmg.a.35772Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/87881Test

المؤلفون: Auderset, F., Schuster, S., Coutaz, M., Koch, U., Desgranges, F., Merck, E., MacDonald, H.R., Radtke, F., Tacchini-Cottier, F.

المصدر: PLoS Pathogens, vol. 8, no. 3, pp. e1002560

مصطلحات موضوعية: Animals, Cytokines/genetics, Cytokines/metabolism, Disease Models, Animal, Gene Expression, Host-Parasite Interactions, Interferon-gamma/secretion, Leishmania major/physiology, Leishmaniasis, Cutaneous/genetics, Cutaneous/immunology, Mice, Inbred C57BL, Transgenic, Receptor, Notch1/genetics, Notch1/metabolism, Notch2/genetics, Notch2/metabolism, Signal Transduction, Th1 Cells/metabolism

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22396647; info:eu-repo/semantics/altIdentifier/eissn/1553-7374; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1D09FBC05E853; https://serval.unil.ch/notice/serval:BIB_1D09FBC05E85Test; urn:issn:1553-7366; https://serval.unil.ch/resource/serval:BIB_1D09FBC05E85.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1D09FBC05E853Test

الإتاحة: https://doi.org/10.1371/journal.ppat.1002560Test
https://serval.unil.ch/notice/serval:BIB_1D09FBC05E85Test
https://serval.unil.ch/resource/serval:BIB_1D09FBC05E85.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1D09FBC05E853Test

المؤلفون: Dumortier, A., Durham, A.D., Di Piazza, M., Vauclair, S., Koch, U., Ferrand, G., Ferrero, I., Demehri, S., Song, L.L., Farr, A.G., Leonard, W.J., Kopan, R., Miele, L., Hohl, D., Finke, D., Radtke, F.

المصدر: PLoS One, vol. 5, no. 2, pp. e9258

مصطلحات موضوعية: Animals, Cytokines/metabolism, Dermatitis, Atopic/genetics, Atopic/mortality, Flow Cytometry, Granulocyte Colony-Stimulating Factor/genetics, Granulocyte Colony-Stimulating Factor/metabolism, Humans, Mice, Inbred C57BL, Knockout, Nude, Transgenic, Models, Biological, Myeloproliferative Disorders/genetics, Myeloproliferative Disorders/mortality, Receptor, Notch1/genetics, Notch1/physiology, Notch2/genetics, Notch2/physiology, Receptors, Cytokine/genetics, Cytokine/metabolism, Notch/genetics, Notch/physiology, Reverse Transcriptase Polymerase Chain Reaction, Signal Transduction/genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20174635; info:eu-repo/semantics/altIdentifier/pissn/1932-6203[electronic], 1932-6203[linking]; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_BF783DDCBA050; https://serval.unil.ch/notice/serval:BIB_BF783DDCBA05Test; https://serval.unil.ch/resource/serval:BIB_BF783DDCBA05.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_BF783DDCBA050Test

الإتاحة: https://doi.org/10.1371/journal.pone.0009258Test
https://serval.unil.ch/notice/serval:BIB_BF783DDCBA05Test
https://serval.unil.ch/resource/serval:BIB_BF783DDCBA05.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_BF783DDCBA050Test

المؤلفون: Fiddes, I.T., Lodewijk, G.A., Mooring, M., Bosworth, C.M., Ewing, A.D., Mantalas, G.L., Novak, A.M., van den Bout, A., Bishara, A., Rosenkrantz, J.L., Lorig-Roach, R., Field, A.R., Haeussler, M., Russo, L., Bhaduri, A., Nowakowski, T.J., Pollen, A.A., Dougherty, M.L., Nuttle, X., Addor, M.C., Zwolinski, S., Katzman, S., Kriegstein, A., Eichler, E.E., Salama, S.R., Jacobs, FMJ, Haussler, D.

المصدر: Cell, vol. 173, no. 6, pp. 1356-1369.e22

مصطلحات موضوعية: Animals, Brain/embryology, Cell Differentiation, Cerebral Cortex/physiology, Embryonic Stem Cells/metabolism, Female, Gene Deletion, Genes, Reporter, Gorilla gorilla, HEK293 Cells, Humans, Neocortex/cytology, Neural Stem Cells/metabolism, Neurogenesis/physiology, Neuroglia/metabolism, Neurons/metabolism, Pan troglodytes, Receptor, Notch2/genetics, Notch2/metabolism, Sequence Analysis, RNA, Signal Transduction, 1q21.1, Notch signaling, autism, cortical organoids, human evolution, neural stem cells

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29856954; info:eu-repo/semantics/altIdentifier/eissn/1097-4172; https://serval.unil.ch/notice/serval:BIB_6AB4448DA6E1Test; urn:issn:0092-8674

الإتاحة: https://doi.org/10.1016/j.cell.2018.03.051Test
https://serval.unil.ch/notice/serval:BIB_6AB4448DA6E1Test

المؤلفون: Florio, Marta, Heide, Michael, Pinson, Anneline, Brandl, Holger, Albert, Mareike, Winkler, Sylke, Wimberger, Pauline, Huttner, Wieland B., Hiller, Michael

المصدر: eLife, 7 (2018)

مصطلحات موضوعية: Animals, Cell Proliferation/genetics, Embryonic Stem Cells/cytology/metabolism, Evolution, Molecular, Gene Expression Profiling, Gene Expression Regulation, Developmental, Humans, Neocortex/cytology/embryology/metabolism, Neural Stem Cells/cytology/metabolism, Neurogenesis/genetics, Neurons/cytology/metabolism, Primates/classification/genetics, Receptor, Notch2/genetics, Species Specificity, developmental biology, gene evolution, human, human-specific genes, mouse, neocortex development, neocortex evolution, neural stem cells, neuroscience, primate-specific genes, stem cells, Human health sciences, Neurology

العلاقة: urn:issn:2050-084X; https://orbi.uliege.be/handle/2268/255223Test; info:hdl:2268/255223; scopus-id:2-s2.0-85045684016; info:pmid:29561261

الإتاحة: https://doi.org/10.7554/eLife.32332Test
https://orbi.uliege.be/handle/2268/255223Test

المؤلفون: Florian Desgranges, Freddy Radtke, Floriane Auderset, Steffen Schuster, Ute Koch, Estelle Merck, Fabienne Tacchini-Cottier, H. Robson MacDonald, Manuel Coutaz

المصدر: PLoS Pathogens, Vol 8, Iss 3, p e1002560 (2012)
PLoS Pathogens
PLoS pathogens
PLoS Pathogens, vol. 8, no. 3, pp. e1002560

مصطلحات موضوعية: Cellular differentiation, Gene Expression, Expression, Interleukin 21, Mice, 0302 clinical medicine, Cytotoxic T cell, IL-2 receptor, Receptor, Notch2, Receptor, Notch1, lcsh:QH301-705.5, Leishmania major, 0303 health sciences, Lineage Commitment, ZAP70, 3. Good health, Cell biology, medicine.anatomical_structure, Differentiation, Cytokines, In-Vivo, Research Article, Signal Transduction, lcsh:Immunologic diseases. Allergy, T cell, Immune Cells, Immunology, Notch signaling pathway, Activation, Leishmaniasis, Cutaneous, Mice, Transgenic, Biology, Microbiology, Host-Parasite Interactions, 03 medical and health sciences, Interferon-gamma, Virology, Genetics, medicine, Animals, Antigen-presenting cell, Cytokines/genetics, Cytokines/metabolism, Disease Models, Animal, Interferon-gamma/secretion, Leishmania major/physiology, Leishmaniasis, Cutaneous/genetics, Leishmaniasis, Cutaneous/immunology, Mice, Inbred C57BL, Receptor, Notch1/genetics, Receptor, Notch1/metabolism, Receptor, Notch2/genetics, Receptor, Notch2/metabolism, Th1 Cells/metabolism, Molecular Biology, 030304 developmental biology, Immunity, Th1 Cells, Cd4(+) T-Cells, lcsh:Biology (General), Susceptibility, Immune System, Parasitology, Nf-Kappa-B, lcsh:RC581-607, 030215 immunology, Pathway

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd0c279091ee7c1adedfc60253edffd4Test
http://europepmc.org/articles/PMC3291656?pdf=renderTest

المؤلفون: Schouwey, K., Delmas, V., Larue, L., Zimber-Strobl, U., Strobl, L. J., Radtke, F., Beermann, F.

المصدر: Developmental Dynamics, vol. 236, no. 1, pp. 282-9

مصطلحات موضوعية: Alleles Animals Cell Lineage Embryo/metabolism Genotype Hair Color/*physiology Hair Follicle/embryology/*metabolism In Situ Hybridization Intramolecular Oxidoreductases/metabolism Melanocytes/metabolism Mice Mice, Knockout Mice, Transgenic Phenotype Receptor, Notch1/genetics/*metabolism Receptor, Notch2/genetics/*metabolism *Signal Transduction

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17080428; info:eu-repo/semantics/altIdentifier/pissn/1058-8388; https://serval.unil.ch/notice/serval:BIB_424AFB86F7A1Test

الإتاحة: https://doi.org/10.1002/dvdy.21000Test
https://serval.unil.ch/notice/serval:BIB_424AFB86F7A1Test