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1دورية أكاديمية
المؤلفون: Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A Fishman, Stephen H Tsang, Santa J Tumminia, Brian P Brooks, Robert B Hufnagel, Rui Chen, Rando Allikmets
المصدر: PLoS Genetics, Vol 18, Iss 3, p e1010129 (2022)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Ramakrishna P Alur, Camasamudram Vijayasarathy, Jacob D Brown, Mohit Mehtani, Ighovie F Onojafe, Yuri V Sergeev, Elangovan Boobalan, Marypat Jones, Ke Tang, Haiquan Liu, Chun-Hong Xia, Xiaohua Gong, Brian P Brooks
المصدر: PLoS Genetics, Vol 6, Iss 3, p e1000870 (2010)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC2832668?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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3دورية أكاديمية
المؤلفون: Volha V. Malechka, Catherine A. Cukras, Emily Y. Chew, Yuri V. Sergeev, Delphine Blain, Brett G. Jeffrey, Ehsan Ullah, Robert B. Hufnagel, Brian P. Brooks, Laryssa A. Huryn, Wadih M. Zein
المصدر: Genes, Vol 13, Iss 925, p 925 (2022)
مصطلحات موضوعية: CDHR1, retinal dystrophy, autosomal recessive retinal dystrophies, Genetics, QH426-470
العلاقة: https://www.mdpi.com/2073-4425/13/5/925Test; https://doaj.org/toc/2073-4425Test; https://doaj.org/article/88f2263a6a49405684a7f6cf6be45eb0Test
الإتاحة: https://doi.org/10.3390/genes13050925Test
https://doaj.org/article/88f2263a6a49405684a7f6cf6be45eb0Test -
4دورية أكاديمية
المؤلفون: Ameera Mungale, David M. McGaughey, Congxiao Zhang, Sairah Yousaf, James Liu, Brian P. Brooks, Arvydas Maminishkis, Temesgen D. Fufa, Robert B. Hufnagel
المصدر: Frontiers in Genetics, Vol 13 (2022)
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.949449/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/dacfca79c6464c269d748823569aaea9Test
الإتاحة: https://doi.org/10.3389/fgene.2022.949449Test
https://doaj.org/article/dacfca79c6464c269d748823569aaea9Test -
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المؤلفون: Kamil, Kruczek, Zepeng, Qu, Emily, Welby, Hiroko, Shimada, Suja, Hiriyanna, Milton A, English, Wadih M, Zein, Brian P, Brooks, Anand, Swaroop
المصدر: Stem Cell Reports. 17:2172-2186
مصطلحات موضوعية: Cytoskeletal Proteins, Calmodulin, Antigens, Neoplasm, Mutation, Genetics, Humans, Calmodulin-Binding Proteins, Cell Cycle Proteins, Cell Biology, Retinal Pigments, Biochemistry, Ciliopathies, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa4d00b274ad2fa011aa359daa92838aTest
https://doi.org/10.1016/j.stemcr.2022.08.006Test -
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المؤلفون: RaeLynn Forsyth, Melissa A. Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P. Brooks, Wadih M. Zein, William A. Gahl, Camilo Toro, Meral Gunay‐Aygun
المصدر: Am J Med Genet C Semin Med Genet
مصطلحات موضوعية: Adult, Male, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Article, Retina, Cerebellum, Genetics, Humans, Muscle Hypotonia, Abnormalities, Multiple, Female, Eye Abnormalities, Child, Physical Examination, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51deaad35ee307542c96f454a29d3d4Test
https://doi.org/10.1002/ajmg.c.31966Test -
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المؤلفون: Aman George, Ruchi Sharma, Tyler Pfister, Mones Abu-Asab, Nathan Hotaling, Devika Bose, Charles DeYoung, Justin Chang, David R. Adams, Tiziana Cogliati, Kapil Bharti, Brian P. Brooks
المصدر: Stem Cell Reports
مصطلحات موضوعية: Resource, iPSC, genetic structures, Induced Pluripotent Stem Cells, melanosomes, Cell Differentiation, Cell Biology, albinism, Retinal Pigment Epithelium, Biochemistry, eye diseases, Disease Models, Animal, OCA1A, Phenotype, Albinism, Oculocutaneous, Genetics, OCA2, Animals, Humans, Melanocytes, sense organs, RPE, Biomarkers, Cells, Cultured, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cb385ef6b0bf1d18fe1b2106ab39428Test
http://europepmc.org/articles/PMC8758966Test -
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المؤلفون: Ananya Samanta, James Gentry, Kamil Kruczek, Zepeng Qu, Benjamin R. Fadl, Brian P. Brooks, Colin J Chu, Zhijian Wu, Zachary Batz, Linn Gieser, Laura Campello, Suja Hiriyanna, Anand Swaroop, Mugdha Samant
المصدر: Stem Cell Reports
Kruczek, K, Qu, Z, Gentry, J, Fadl, B R, Gieser, L, Hiriyanna, S, Batz, Z, Samant, M, Samanta, A, Chu, C J, Campello, L, Brooks, B P, Wu, Z & Swaroop, A 2021, ' Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids ', Stem Cell Reports, vol. 16, no. 2, pp. 252-263 . https://doi.org/10.1016/j.stemcr.2020.12.018Testمصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Opsin, genetic structures, Genetic enhancement, Leber Congenital Amaurosis, medicine.disease_cause, Biochemistry, chemistry.chemical_compound, 0302 clinical medicine, disease modeling, Child, Induced pluripotent stem cell, transcription factor, Mutation, iPSC, Cell Differentiation, AAV, Dependovirus, Organoids, Phenotype, Child, Preschool, Female, Single-Cell Analysis, pluripotent stem cells, Stem cell, Adult, Induced Pluripotent Stem Cells, 3-D organoids, Biology, Models, Biological, Retina, Article, 03 medical and health sciences, scRNA-seq, Genetics, medicine, Humans, Photoreceptor Cells, Homeodomain Proteins, therapy, Opsins, Sequence Analysis, RNA, Retinal, Genetic Therapy, Cell Biology, medicine.disease, eye diseases, 030104 developmental biology, chemistry, Trans-Activators, retinal degeneration, Cancer research, Homeobox, sense organs, Transcriptome, transcriptome, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a0a53897ea69bd6cee97b109036be2Test
https://doi.org/10.1016/j.stemcr.2020.12.018Test -
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المؤلفون: Robert B. Hufnagel, Raphaela Goldbach-Mansky, Priyam Jani, Edward W. Cowen, Rachael Wasikowski, Antonette Souto El Husny, Marcus Y. Chen, J. Michelle Kahlenberg, Johann E. Gudjonsson, Sayoko E. Moroi, Adriana Almeida de Jesus, Blake M. Warner, Allison C. Billi, Haitao Wang, Izabela Almeida, Brian P. Brooks, Sarah J. Garnai, Lev Prasov, Edmundo Frota de Almeida, Carlos Ferreira, Shahzad I. Mian, Lam C. Tsoi, Julia E. Richards, Brenda L. Bohnsack, Luciana Negrão Frota de Almeida, Fernando Kok, Bin Guan, Sun Hur
المصدر: J Med Genet
مصطلحات موضوعية: 0301 basic medicine, RIG-I, RNA, Biology, Rash, Phenotype, Article, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Interferon, Immunology, Gene expression, Genotype, 030221 ophthalmology & optometry, Genetics, medicine, medicine.symptom, Genetics (clinical), Exome sequencing, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::001c359b15fb983b5ad4e152523fa6f6Test
https://doi.org/10.1136/jmedgenet-2020-107447Test -
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المؤلفون: Ameera Mungale, David M. McGaughey, Congxiao Zhang, Sairah Yousaf, James Liu, Brian P. Brooks, Arvydas Maminishkis, Temesgen D. Fufa, Robert B. Hufnagel
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, transcriptome, macula, fovea, retina, RPE
الإتاحة: https://doi.org/10.3389/fgene.2022.949449.s001Test
https://figshare.com/articles/dataset/DataSheet1_Transcriptional_mapping_of_the_macaque_retina_and_RPE-choroid_reveals_conserved_inter-tissue_transcription_drivers_and_signaling_pathways_docx/21620361Test