المؤلفون: Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld-Huijssoon, Evelien, de Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding-Byth, Tracy, Simon, Marleen, van Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan

المصدر: Rossi , A , Blok , L S , Neuser , S , Klöckner , C , Platzer , K , Faivre , L O , Weigand , H , Dentici , M L , Tartaglia , M , Niceta , M , Alfieri , P , Srivastava , S , Coulter , D , Smith , L , Vinorum , K , Cappuccio , G , Brunetti-Pierri , N , Torun , D , Arslan , M , Lauridsen , M F , Murch , O , Irving , R , Lynch , S A , Mehta , ....

مصطلحات موضوعية: autism, cupped ears, epilepsy, neurodevelopmental disorder, POU3F3, Mutation, Missense/genetics, Humans, Autistic Disorder/genetics, Developmental Disabilities/genetics, Intellectual Disability/genetics, Phenotype, Epilepsy/genetics, Child, POU Domain Factors/genetics

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/4398f477-70c1-4830-8eaa-90a38cfd3531

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/4398f477-70c1-4830-8eaa-90a38cfd3531
https://doi.org/10.1111/cge.14353
https://findresearcher.sdu.dk/ws/files/263875625/Clinical_Genetics_-_2023_-_Rossi_-_POU3F3_related_disorder_Defining_the_phenotype_and_expanding_the_molecular_spectrum.pdf

المؤلفون: Khaminets, Aliaksandr, Ronnen-Oron, Tal, Baldauf, Maik, Meier, Elke, Jasper, Heinrich

المصدر: eLife, 9:e48160

مصطلحات موضوعية: Mitosis/physiology, Stem Cells/metabolism [MeSH], Mitosis/physiology [MeSH], Drosophila melanogaster [MeSH], POU Domain Factors/genetics, Female, Drosophila Proteins/metabolism [MeSH], Stem Cells/cytology [MeSH], Drosophila Proteins/genetics [MeSH], POU Domain Factors/metabolism, Female [MeSH], Drosophila Proteins/metabolism, Homeodomain Proteins/metabolism, POU Domain Factors/metabolism [MeSH], Homeodomain Proteins/genetics [MeSH], POU Domain Factors/genetics [MeSH], Animals [MeSH], Drosophila melanogaster, Intestinal Mucosa/metabolism, Stem Cells/metabolism, Intestinal Mucosa/metabolism [MeSH], Stem Cells/cytology, Intestinal Mucosa/cytology [MeSH], Homeodomain Proteins/metabolism [MeSH], Intestinal Mucosa/cytology, Drosophila Proteins/genetics, Cell Cycle Proteins/metabolism [MeSH], Animals, Cell Cycle Proteins/metabolism, Homeodomain Proteins/genetics

Relation: https://repository.publisso.de/resource/frl:6475652; https://doi.org/10.7554/eLife.48160; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7002041/

الاتاحة: https://repository.publisso.de/resource/frl:6475652
https://doi.org/10.7554/eLife.48160
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7002041/

المؤلفون: Hamm, Michael, Sohier, Pierre, Petit, Valérie, Raymond, Jérémy H., Delmas, Véronique, Le Coz, Madeleine, Gesbert, Franck, Kenny, Colin, Aktary, Zackie, Pouteaux, Marie, Rambow, Florian, Sarasin, Alain, Charoenchon, Nisamanee, Bellacosa, Alfonso, Sanchez-del-Campo, Luis, Mosteo, Laura, Lauss, Martin, Meijer, Dies, Steingrímsson, Eiríkur, Jönsson, Göran B., Cornell, Robert A., Davidson, Irwin, Goding, Colin R., Larue, Lionel

المساهمون: Faculty of Medicine

مصطلحات موضوعية: Erfðafræði, Húðkrabbamein, Frumur, Cell proliferation/genetics, Genes, tumor suppressor, Gene Expression Regulation, Neoplastic/genetics, Skin Neoplasms/metabolism, Immunohistochemistry, Humans, Phosphatidylinositol 3-Kinases/metabolism, Proto-Oncogene Proteins B-raf/genetics, DNA Copy Number Variations, Gene Knockdown Techniques, Chromatin Immunoprecipitation, Microarray Analysis, Melanoma/genetics, Skin Neoplasms/genetics, POU Domain Factors/genetics, Mice, Inbred C57BL, Transgenic, Disease Progression, Haploinsufficiency, PTEN Phosphohydrolase/genetics, Animals, Homeodomain Proteins/genetics, Cell Line, Tumor

Relation: Nature Communications; 12(1); http://www.scopus.com/inward/record.url?scp=85108003528&partnerID=8YFLogxK; Hamm , M , Sohier , P , Petit , V , Raymond , J H , Delmas , V , Le Coz , M , Gesbert , F , Kenny , C , Aktary , Z , Pouteaux , M , Rambow , F , Sarasin , A , Charoenchon , N , Bellacosa , A , Sanchez-del-Campo , L , Mosteo , L , Lauss , M , Meijer , D , Steingrímsson , E , Jönsson , G B , Cornell , R A , Davidson , I , Goding , C R & Larue , L 2021 , ' BRN2 is a non-canonical melanoma tumor-suppressor ' , Nature Communications , vol. 12 , no. 1 , 3707 , pp. 3707 . https://doi.org/10.1038/s41467-021-23973-5; d068b612-2683-4a51-a1c5-988ee4d4c5be; 85108003528; 000665032700029; https://hdl.handle.net/20.500.11815/2910

الاتاحة: https://hdl.handle.net/20.500.11815/2910
https://doi.org/10.1038/s41467-021-23973-5

المساهمون: College of Medicine, Dept. of Physiology, Mi-Sun Lim, Mi-Yoon Chang, Sang-Mi Kim, Sang-Hoon Yi, Haeyoung Suh-Kim, Sung Jun Jung, Min Jung Kim, Jin Hyuk Kim, Yong-Sung Lee, Soo Young Lee, Dong-Wook Kim, Sang-Hun Lee, Chang-Hwan Park, Kim, Dong Wook

مصطلحات موضوعية: Animals, Basic Helix-Loop-Helix Transcription Factors/genetics, Cell Transdifferentiation, Cellular Reprogramming, Dopamine/metabolism, Dopaminergic Neurons/cytology, Dopaminergic Neurons/metabolism, Fibroblasts/cytology, Fibroblasts/metabolism, Gene Expression, Hepatocyte Nuclear Factor 3-beta/genetics, Mesencephalon/cytology, Mesencephalon/metabolism, Mice, Inbred C57BL, Inbred ICR, Transgenic, Nerve Tissue Proteins/genetics, Neural Stem Cells/cytology, Neural Stem Cells/metabolism, Nuclear Receptor Subfamily 4, Group A, Member 2/genetics, POU Domain Factors/genetics, Parkinsonian Disorders/metabolism, Parkinsonian Disorders/pathology, Parkinsonian Disorders/therapy, Rats, Inbred Lew, Wistar

Relation: JOURNAL OF BIOLOGICAL CHEMISTRY; J01258; OAK-2015-06300; https://ir.ymlib.yonsei.ac.kr/handle/22282913/156944; T201504955; JOURNAL OF BIOLOGICAL CHEMISTRY, Vol.290(28) : 17401-17414, 2015

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/156944
https://doi.org/10.1074/jbc.M114.629808

المساهمون: Byung Yoon Choi, Do-Hwan Kim, Taesu Chung, Mi Chang, Eun-Hye Kim, Ah Reum Kim, Jungirl Seok, Sun O Chang, Jinwoong Bok, Dongsup Kim, Seung-Ha Oh, Woong-Yang Park, Bok, Jin Woong

مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Asian Continental Ancestry Group/genetics, Blotting, Western, Child, Preschool, Fluorescent Antibody Technique, Frameshift Mutation, Gene Frequency, HEK293 Cells, Hearing Loss, Sensorineural/genetics, Humans, Leupeptins/pharmacology, Magnetic Resonance Imaging, Male, Molecular Sequence Data, Mutation, Missense, Nuclear Localization Signals, POU Domain Factors/genetics, POU Domain Factors/metabolism, Pedigree, Phenotype, Proteasome Inhibitors/pharmacology, Protein Conformation, Transcriptional Activation/genetics

Relation: HUMAN MUTATION; J01010; OAK-2013-01351; https://ir.ymlib.yonsei.ac.kr/handle/22282913/87468; T201302604; HUMAN MUTATION, Vol.34(2) : 309-316, 2013

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/87468
https://doi.org/10.1002/humu.22232
http://onlinelibrary.wiley.com/doi/10.1002/humu.22232/abstract

المؤلفون: Deck, M., Lokmane, L., Chauvet, S., Mailhes, C., Keita, M., Niquille, M., Yoshida, M., Yoshida, Y., Lebrand, C., Mann, F., Grove, E.A., Garel, S.

المصدر: Neuron, vol. 77, no. 3, pp. 472-484

مصطلحات موضوعية: Age Factors, Animals, Axons/physiology, Body Patterning/genetics, Calcium-Binding Protein, Vitamin D-Dependent/metabolism, Cerebral Cortex/cytology, Cerebral Cortex/physiology, Contactin 2/metabolism, DNA-Binding Proteins/metabolism, Embryo, Mammalian, Gene Expression Regulation, Developmental/genetics, Glycoproteins/genetics, Homeodomain Proteins/genetics, Leukocyte L1 Antigen Complex/metabolism, Luminescent Proteins/genetics, Luminescent Proteins/metabolism, Membrane Glycoproteins/genetics, Membrane Proteins/genetics, Mice, Inbred C57BL, Transgenic, Nerve Tissue Proteins/genetics, Nerve Tissue Proteins/metabolism, Neural Pathways/physiology, Nuclear Proteins/metabolism, POU Domain Factors/genetics, Repressor Proteins/metabolism

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/23395374; info:eu-repo/semantics/altIdentifier/eissn/1097-4199; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_026EA9F845495; https://serval.unil.ch/notice/serval:BIB_026EA9F84549; https://serval.unil.ch/resource/serval:BIB_026EA9F84549.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_026EA9F84549
https://doi.org/10.1016/j.neuron.2012.11.031
https://serval.unil.ch/resource/serval:BIB_026EA9F84549.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_026EA9F845495

المساهمون: MH Song, HK Lee, JY Choi, S Kim, J Bok, U-K Kim, Bok, Jin Woong, Song, Mee Hyun, Choi, Jae Young

مصطلحات موضوعية: Child, Preschool, Deafness/diagnosis, Deafness/genetics, Female, Genetic Carrier Screening/methods, Genetic Diseases, X-Linked/diagnosis, X-Linked/genetics, Hearing Loss/genetics, Humans, Mutation, POU Domain Factors/genetics, Pedigree, Polymerase Chain Reaction, Sequence Deletion, deletion, DFN3, hearing loss, MLPA, POU3F4

وصف الملف: 524~532

Relation: CLINICAL GENETICS; J00574; OAK-2010-01865; https://ir.ymlib.yonsei.ac.kr/handle/22282913/102265; T201003472; CLINICAL GENETICS, Vol.78(6) : 524-532, 2010

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/102265
https://doi.org/10.1111/j.1399-0004.2010.01426.x
http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2010.01426.x/abstract

المساهمون: Hee Keun Lee, Mee Hyun Song, Myengmo Kang, Jung Tae Lee, Kyoung-Ah Kong, Su-Jin Choi, Kyu Yup Lee, Hanka Venselaar, Gert Vriend, Won-Sang Lee, Hong-Joon Park, Taeg Kyu Kwon, Jinwoong Bok, Un-Kyung Kim, Kang, Myeng Mo, Kong, Kyoung Ah, Bok, Jin Woong, Kang, Myengmo

المصدر: T200903760.pdf

مصطلحات موضوعية: Amino Acid Sequence, Animals, Cell Line, DNA Mutational Analysis, Deafness/genetics, Family Health, Female, Genetic Diseases, X-Linked/genetics, Humans, Luciferases/genetics, Luciferases/metabolism, Male, Mice, Microscopy, Fluorescence, Models, Molecular, Molecular Sequence Data, Mutation, POU Domain Factors/chemistry, POU Domain Factors/genetics, Pedigree, Protein Structure, Secondary, Tertiary, Recombinant Fusion Proteins/genetics, Recombinant Fusion Proteins/metabolism, Sequence Homology, Amino Acid

وصف الملف: 195~201

Relation: PHYSIOLOGICAL GENOMICS; J02526; OAK-2009-02014; https://ir.ymlib.yonsei.ac.kr/handle/22282913/105354; T200903760; PHYSIOLOGICAL GENOMICS, Vol.39(3) : 195-201, 2009

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/105354
https://doi.org/10.1152/physiolgenomics.00100.2009

المؤلفون: Cai, D-C, Fonteijn, H., Fernández, G., Brunner, H. G., van Bokhoven, H., Franke, B., Hegenscheid, K., Homuth, G., Fisher, S. E., Grabe, Hans, Francks, C., Hagoort, P., Guadalupe, T., Zwiers, M., Wittfeld, K., Teumer, A., Hoogman, M., Arias-Vásquez, A., Yang, Y., Buitelaar, J.

المصدر: Genes, brain and behavior 13(7), 675-685 (2014). doi:10.1111/gbb.12157

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Adult, Aged, Auditory Cortex: anatomy & histology, Female, Genome, Human, Guanine Nucleotide Exchange Factors: genetics, Humans, Male, Membrane Proteins: genetics, Middle Aged, POU Domain Factors: genetics, Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases: genetics, Quantitative Trait Loci, Ubiquitin-Protein Ligases: genetics, DCBLD2 protein, Guanine Nucleotide Exchange Factors, Membrane Proteins, POU Domain Factors, POU3F4 protein, CBLL1 protein, Ubiquitin-Protein Ligases, KALRN protein, Protein-Serine-Threonine Kinases

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1601-183X; info:eu-repo/semantics/altIdentifier/issn/1601-1848; info:eu-repo/semantics/altIdentifier/pmid/pmid:25130324; https://pub.dzne.de/record/137576; https://pub.dzne.de/search?p=id:%22DZNE-2020-03898%22

الاتاحة: https://pub.dzne.de/record/137576
https://pub.dzne.de/search?p=id:%22DZNE-2020-03898%22

المؤلفون: Berlin, Irina, Denat, Laurence, Steunou, Anne-Lise, Puig, Isabel, Champeval, Delphine, Colombo, Sophie, Roberts, Karen, Bonvin, Elise, Bourgeois, Yveline, Davidson, Irwin, Delmas, Véronique, Nieto, Laurence, Goding, Colin R, Larue, Lionel

المصدر: Molecular and cellular biology, 32 (7

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Animals, Cell Line, Tumor, Cell Movement, Cell Proliferation, Humans, Melanocytes -- cytology -- metabolism, Melanoma -- genetics -- metabolism, Mice, Transgenic, Microphthalmia-Associated Transcription Factor -- genetics, Mutation, Nerve Tissue Proteins -- genetics -- metabolism, POU Domain Factors -- genetics -- metabolism, Paired Box Transcription Factors -- genetics, Phenotype, Phosphorylation, Promoter Regions, Genetic, Transcription

وصف الملف: 1 full-text file(s): application/pdf

Relation: uri/info:doi/10.1128/MCB.06257-11; uri/info:pii/MCB.06257-11; uri/info:pmid/22290434; uri/info:pmcid/PMC3302439; https://dipot.ulb.ac.be/dspace/bitstream/2013/134098/4/PMC3302439.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/134098

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/134098
https://dipot.ulb.ac.be/dspace/bitstream/2013/134098/4/PMC3302439.pdf

المؤلفون: Pinner, Sophie, Jordan, Peter, Sharrock, Kirsty, Bazley, Laura, Collinson, Lucy, Marais, Richard, Bonvin, Elise, Goding, Colin, Sahai, Erik

المصدر: Cancer research, 69 (20

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Animals, Cell Line, Tumor, Cell Movement, Flow Cytometry, Fluorescent Antibody Technique, Gene Expression Profiling, Green Fluorescent Proteins -- genetics -- metabolism, Luciferases -- metabolism, Melanocytes -- metabolism, Melanoma, Experimental -- metabolism -- pathology, Mice, Inbred C57BL, Nude, Neoplasm Invasiveness, Nerve Tissue Proteins -- genetics -- metabolism, Oligonucleotide Array Sequence Analysis, POU Domain Factors -- genetics -- metabolism, Promoter Regions, Genetic, Skin Neoplasms -- metabolism -- secondary, Skin Pigmentation, Transforming Growth Factor beta2 -- genetics -- metabolism, Tumor Markers, Biological -- genetics -- metabolism

وصف الملف: 1 full-text file(s): application/pdf

Relation: uri/info:doi/10.1158/0008-5472.CAN-09-0781; uri/info:pii/0008-5472.CAN-09-0781; uri/info:pmid/19826052; uri/info:pmcid/PMC2763120; https://dipot.ulb.ac.be/dspace/bitstream/2013/134097/4/PMC2763120.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/134097

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/134097
https://dipot.ulb.ac.be/dspace/bitstream/2013/134097/4/PMC2763120.pdf