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

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

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

المؤلفون: Wadih M. Zein, Irini Manoli, Susan Ferry, Jennifer Myles, Oleg A. Shchelochkov, Laryssa A. Huryn, Sho Yano, Charles P. Venditti, Joseph Snow, Carol Van Ryzin, Jennifer L. Sloan, Audrey Thurm, Brian P. Brooks

المصدر: Molecular Genetics and Metabolism. 132:S1-S2

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Hydroxocobalamin, Biochemistry, Cobalamin, chemistry.chemical_compound, Endocrinology, chemistry, Genetics, Medicine, Dietary therapy, business, Lead (electronics), Molecular Biology, Neurocognitive, medicine.drug, Early onset

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::576dec4f1b57146edf6495414568a8d6Test
https://doi.org/10.1016/s1096-7192Test(21)00089-5

المؤلفون: Sikandar G. Khan, Kenneth H. Kraemer, Jennifer Boyle, N. Mendelsohn, Deborah Tamura, Melissa A. Merideth, M. Sarihan, J.J. DiGiovanna, Brian P. Brooks, J. Jeskey, E.H. Rizza

المصدر: Journal of Investigative Dermatology. 141:S27

مصطلحات موضوعية: Genetics, Trichothiodystrophy, medicine, ERCC2, Cell Biology, Dermatology, Biology, medicine.disease, Molecular Biology, Biochemistry, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::37aaca638504ec77aec82b82fa02a7acTest
https://doi.org/10.1016/j.jid.2021.02.171Test

المؤلفون: Marjan Huizing, Melanie M. Bryan, Robert B. Hufnagel, Nathanial J. Tolman, Vladislav V. Speransky, Bernadette R. Gochuico, May Christine V. Malicdan, Karen L. Simon, Brian P. Brooks, James C. Mullikin, William A. Gahl

المصدر: Molecular Genetics and Metabolism. 120:378-383

مصطلحات موضوعية: Male, 0301 basic medicine, Ocular albinism, Pathology, medicine.medical_specialty, Biogenesis of lysosome-related organelles complex 1, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Biology, Biochemistry, Article, 03 medical and health sciences, Endocrinology, Genetics, medicine, Humans, Exome, Child, Molecular Biology, Exome sequencing, Platelet storage pool deficiency, Dysbindin, Sequence Analysis, DNA, medicine.disease, Oculocutaneous albinism, eye diseases, 030104 developmental biology, Codon, Nonsense, Hermanski-Pudlak Syndrome, Dystrophin-Associated Proteins, Hermansky–Pudlak syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8314ee5a8696648bc740eb683d0847eTest
https://doi.org/10.1016/j.ymgme.2017.02.007Test

المؤلفون: Paul T. Wingfield, Yuri V. Sergeev, Monika B. Dolinska, Brian P. Brooks, S. Katie Farney, Nicole J. Kus

المصدر: Pigment Cell & Melanoma Research. 30:41-52

مصطلحات موضوعية: Models, Molecular, 0301 basic medicine, Protein Folding, Low protein, Protein Conformation, Tyrosinase, Mutant, Mutagenesis (molecular biology technique), Dermatology, Biology, Article, Catalysis, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Protein purification, medicine, Humans, Monophenol Monooxygenase, Wild type, medicine.disease, Molecular biology, Oculocutaneous albinism, Recombinant Proteins, 030104 developmental biology, Oncology, Biochemistry, Albinism, Oculocutaneous, 030220 oncology & carcinogenesis, Mutation, Albinism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdb4dab5e9ccc5c8ff7727c31ec3e130Test
https://doi.org/10.1111/pcmr.12546Test

المؤلفون: Ighovie F. Onojafe, Dimitre R. Simeonov, Jun Zhang, Murray H. Brilliant, Isa Bernardini, Chi-Chao Chan, William A. Gahl, Ramakrishna P. Alur, Yuri V. Sergeev, Monika B. Dolinska, David R. Adams, Brian P. Brooks

المصدر: Journal of Clinical Investigation. 121:3914-3923

مصطلحات موضوعية: Models, Molecular, medicine.medical_specialty, Tyrosinase, Skin Pigmentation, Biology, Melanin, Mice, Microscopy, Electron, Transmission, Pregnancy, Internal medicine, Enzyme Stability, medicine, Eye color, Animals, Humans, Enzyme Inhibitors, Allele, Melanosome, Melanins, Retinal pigment epithelium, integumentary system, Eye Color, Cyclohexanones, Monophenol Monooxygenase, General Medicine, medicine.disease, Oculocutaneous albinism, Mice, Mutant Strains, eye diseases, Mice, Inbred C57BL, Disease Models, Animal, Endocrinology, medicine.anatomical_structure, Biochemistry, Albinism, Oculocutaneous, Nitrobenzoates, Mutation, Commentary, Albinism, Melanocytes, Tyrosine, Female, sense organs

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a80bf91ff5092d91978d225abc6df2bTest
https://doi.org/10.1172/jci59372Test

المؤلفون: Yuqian C. Zheng, Jennifer J. Johnston, Jack A. Yanovski, Emma Spaulding, Joan C. Han, Brian P. Brooks, Penelope Feuillan, Rafael C. Caruso, Julie C. Sapp, David Ng, Leslie G. Biesecker, Katie Wetsch

المصدر: The Journal of Clinical Endocrinology & Metabolism. 96:E528-E535

مصطلحات موضوعية: Blood Glucose, Leptin, Male, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Clinical Biochemistry, Blood Pressure, Biochemistry, Ciliopathies, Body Mass Index, Absorptiometry, Photon, Endocrinology, Insulin, Child, Adiposity, JCEM Online: Advances in Genetics, Reverse Transcriptase Polymerase Chain Reaction, digestive, oral, and skin physiology, Middle Aged, Child, Preschool, Body Composition, Female, hormones, hormone substitutes, and hormone antagonists, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Biology, Young Adult, Insulin resistance, Bardet–Biedl syndrome, Internal medicine, medicine, Humans, Obesity, Bardet-Biedl Syndrome, Triglycerides, Biochemistry (medical), nutritional and metabolic diseases, DNA, medicine.disease, Body Height, nervous system diseases, Ciliopathy, Mutation, Insulin Resistance, Body mass index

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6846bad71119a98868129b7f537e98aTest
https://doi.org/10.1210/jc.2010-2290Test

المؤلفون: Brian P. Brooks, Marjan Huizing, Yair Anikster

المصدر: Mol Genet Metab

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, Article, Optic neuropathy, Endocrinology, Atrophy, Optic Atrophies, Hereditary, Internal medicine, Genetics, medicine, Humans, Molecular Biology, Retina, Metabolic disorder, medicine.disease, eye diseases, Oligodendrocyte, medicine.anatomical_structure, Retinal ganglion cell, Inborn error of metabolism, Optic nerve, sense organs, Neuroscience, Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c070a122c36286a3bd3414c62b76384Test
https://doi.org/10.1016/j.ymgme.2005.07.034Test