المؤلفون: Clemer Abad, Maria C. Robayo, Maria del Mar Muñiz-Moreno, Maria T. Bernardi, Maria G. Otero, Christina Kosanovic, Anthony J. Griswold, Tyler Mark Pierson, Katherina Walz, Juan I. Young

المصدر: Translational Psychiatry, Vol 14, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2158-3188

URL الوصول: https://doaj.org/article/decc1c5afde54ffa8f3b5b3c808252a4

المؤلفون: Catarina M. Seabra, Tatsiana Aneichyk, Serkan Erdin, Derek J. C. Tai, Celine E. F. De Esch, Parisa Razaz, Yu An, Poornima Manavalan, Ashok Ragavendran, Alexei Stortchevoi, Clemer Abad, Juan I. Young, Patricia Maciel, Michael E. Talkowski, James F. Gusella

المصدر: Molecular Autism, Vol 11, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: MBD5, Autism spectrum disorder, NDD, CRISPR, Mouse, Neurons, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-020-00354-1; https://doaj.org/toc/2040-2392

URL الوصول: https://doaj.org/article/b709c64d351049a6a80897cdee6396b8

المؤلفون: Abhiraami Kannan-Sundhari, Clemer Abad, Marie E. Maloof, Nagi G. Ayad, Juan I. Young, Xue Zhong Liu, Katherina Walz

المصدر: Frontiers in Cell and Developmental Biology, Vol 8 (2020)

مصطلحات موضوعية: Brd4, hearing loss, hair cell loss, hair cells, function, survival, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fcell.2020.576654/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/b5b3e7ba0bf14d1aa1431f8ca70420d6

المؤلفون: Clemer Abad, Melissa M. Cook, Lei Cao, Julie R. Jones, Nalini R. Rao, Lynn Dukes-Rimsky, Rini Pauly, Cindy Skinner, Yunsheng Wang, Feng Luo, Roger E. Stevenson, Katherina Walz, Anand K. Srivastava

المصدر: Biology, Vol 7, Iss 2, p 31 (2018)

مصطلحات موضوعية: autism spectrum disorder, Smith-Magenis syndrome, RAI1, neurodevelopmental disorder, mutation, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2079-7737/7/2/31; https://doaj.org/toc/2079-7737

URL الوصول: https://doaj.org/article/47129db58e4140aa86f110905720e447

المؤلفون: Nalini R. Rao, Clemer Abad, Irene C. Perez, Anand K. Srivastava, Juan I. Young, Katherina Walz

المصدر: Biology, Vol 6, Iss 2, p 25 (2017)

مصطلحات موضوعية: Autism spectrum disorder, Smith-Magenis syndrome, Rai1, social behavior, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2079-7737/6/2/25; https://doaj.org/toc/2079-7737

URL الوصول: https://doaj.org/article/25c6f87165c74ee393c0d5870e1c498a

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

المصدر: Proceedings of the National Academy of Sciences. 119

مصطلحات موضوعية: Multidisciplinary

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d56c9a88fa2335a3b60b5bbd6daecced
https://doi.org/10.1073/pnas.2204084119

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

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 119(26)

مصطلحات موضوعية: Stereocilia, Mice, Loss of Function Mutation, Hearing Loss, Sensorineural, Animals, Humans, Receptors, Cell Surface, Receptor, Notch2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::eacbaf761d45a5055cb10b697436b728
https://pubmed.ncbi.nlm.nih.gov/35960848

المؤلفون: Patricia Blackwelder, Clemer Abad, Guney Bademci, Oscar Diaz-Horta, Filiz Basak Cengiz, Katherina Walz, Mustafa Tekin

المصدر: Journal of Molecular Medicine. 96:1227-1238

مصطلحات موضوعية: Male, 0301 basic medicine, Stereocilia (inner ear), Morphogenesis, Epithelium, Article, 03 medical and health sciences, Hair Cells, Auditory, Drug Discovery, otorhinolaryngologic diseases, medicine, Animals, Humans, Cilia, RNA, Messenger, Gene, Genetics (clinical), Mice, Knockout, Myosin Heavy Chains, biology, Chemistry, Nonmuscle Myosin Type IIA, Membrane Proteins, Kinocilium, Cell biology, Mice, Inbred C57BL, HEK293 Cells, 030104 developmental biology, Tubulin, medicine.anatomical_structure, Acetylation, Ear, Inner, biology.protein, Molecular Medicine, Phosphorylation, sense organs, Hair cell, Carrier Proteins, Cell Adhesion Molecules

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::331b485ed42556ba1f10393c575d6993
https://doi.org/10.1007/s00109-018-1694-x

المؤلفون: Xue Zhong Liu, Juan I. Young, Katherina Walz, Clemer Abad, Channabasavaiah B. Gurumurthy, Zheng-Yi Chen, Xiaoya Chen

المصدر: Hum Mol Genet

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, Hearing loss, Hearing Loss, Sensorineural, Mutant, Biology, Ribbon synapse, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Adenosine Triphosphate, Genetics, medicine, otorhinolaryngologic diseases, Animals, Humans, Gene Knock-In Techniques, Human phenotype, Molecular Biology, Genetics (clinical), Ion channel, Mutation, Hair Cells, Auditory, Inner, General Medicine, medicine.disease, Cell biology, Pedigree, Disease Models, Animal, 030104 developmental biology, Phenotype, chemistry, Vestibular Diseases, Synapses, Sensorineural hearing loss, sense organs, General Article, medicine.symptom, Adenosine triphosphate, 030217 neurology & neurosurgery, Receptors, Purinergic P2X2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::848a28e93a318313cb0301fcfbada02b
https://pubmed.ncbi.nlm.nih.gov/33791800

المؤلفون: Cynthia C. Morton, Mustafa Tekin, Emine Ikbal Atli, Shengru Guo, Hakan Gurkan, Suat Fitoz, Clemer Abad, Claire J. Sineni, Selma Demir, Brett Colbert, Gozde Cosar Seyhan, Duygu Duman, Nicholas C. Gosstola, Derek M. Dykxhoorn, Serhat Seyhan, Guney Bademci, Filiz Basak Cengiz, Katherina Walz, Armagan Incesulu

المصدر: J Clin Invest
Bademci, G, Abad, C, Cengiz, F B, Seyhan, S, Incesulu, A, Guo, S, Fitoz, S, Atli, E I, Gosstola, N C, Demir, S, Colbert, B M, Seyhan, G C, Sineni, C J, Duman, D, Gurkan, H, Morton, C C, Dykxhoorn, D M, Walz, K & Tekin, M 2020, ' Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development ', Journal of Clinical Investigation . https://doi.org/10.1172/JCI136951

مصطلحات موضوعية: 0301 basic medicine, Male, Lineage (genetic), Cochlear Diseases, Cochlear aplasia, Mice, Transgenic, Biology, Growth Differentiation Factor 6, Response Elements, Genome, DNA sequencing, 03 medical and health sciences, Mice, 0302 clinical medicine, otorhinolaryngologic diseases, Animals, Humans, Induced pluripotent stem cell, Cochlea, Concise Communication, Chromosome, General Medicine, Cell biology, 030104 developmental biology, GDF6, 030220 oncology & carcinogenesis, Female, Chromosomes, Human, Pair 8

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0204a08598dce142d8000a9e816736c
https://pubmed.ncbi.nlm.nih.gov/32369452