نتائج البحث - "Brian P Brooks"

المصدر: Bakker, R, Wagstaff, P E, Kruijt, C C, Emri, E, van Karnebeek, C D M, Hoffmann, M B, Brooks, B P, Boon, C J F, Montoliu, L, van Genderen, M M & Bergen, A A 2022, ' The retinal pigmentation pathway in human albinism : Not so black and white ', Progress in Retinal and Eye Research, vol. 91, 101091 . https://doi.org/10.1016/j.preteyeres.2022.101091Test
Progress in Retinal and Eye Research, 91. Elsevier B.V.
Progress in Retinal and Eye Research, 91. PERGAMON-ELSEVIER SCIENCE LTD

مصطلحات موضوعية: Melanins, Retinal pigment epithelium (RPE), genetic structures, Albinism, Pigmentation, Sensory Systems, eye diseases, Retina, Ophthalmology, Mutation, Humans, sense organs, GPM6A, GPR143

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6103abddceb4552f2167e7c12c175f7dTest
https://doi.org/10.1016/j.preteyeres.2022.101091Test

6

In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium

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

7

Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics

المصدر: Communications Biology. 5

مصطلحات موضوعية: Male, Optics and Photonics, Choroid, Retinal Degeneration, Retinal Cone Photoreceptor Cells, Humans, Medicine (miscellaneous), Female, General Agricultural and Biological Sciences, Choroideremia, General Biochemistry, Genetics and Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03cded1b0bba2910e66974527e578ed5Test
https://doi.org/10.1038/s42003-022-03842-7Test

8

Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging

المؤلفون: Tao Liu, Nancy Aguilera, Andrew J. Bower, Joanne Li, Ehsan Ullah, Alfredo Dubra, Catherine Cukras, Brian P. Brooks, Brett G. Jeffrey, Robert B. Hufnagel, Laryssa A. Huryn, Wadih M. Zein, Johnny Tam

المصدر: Investigative ophthalmologyvisual science. 63(8)

مصطلحات موضوعية: Extracellular Matrix Proteins, Optics and Photonics, Retinal Cone Photoreceptor Cells, Humans, Proteoglycans, General Medicine, Retinal Pigment Epithelium, Bestrophins, Eye Proteins, Tomography, Optical Coherence, Vitelliform Macular Dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::600b1fcd27ae60faca31c3983796aaf6Test
https://pubmed.ncbi.nlm.nih.gov/35900727Test

9

Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids

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.2020.12.018Test

مصطلحات 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

10

Clinical Phenotypes of

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. 13(5)

مصطلحات موضوعية: Phenotype, Mutation, Retinal Dystrophies, Electroretinography, Cadherin Related Proteins, Humans, Nerve Tissue Proteins, Cadherins, Cone-Rod Dystrophies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4e800aa8e37ba50934f84e04494f98edTest
https://pubmed.ncbi.nlm.nih.gov/35627310Test

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