المؤلفون: Robert B. Hufnagel, Brian P. Brooks, James W. Thomas, Delphine Blain, Yuri V. Sergeev, Tiziana Cogliati, Ramakrishna P. Alur, LeeAnn K. Li, Vijay Kumar Kalaskar

المصدر: Human Mutation

مصطلحات موضوعية: Male, Models, Molecular, Receptors, Retinoic Acid, DNA Mutational Analysis, Gene Expression, Retinoic acid receptor beta, Missense mutation, Child, Zebrafish, Research Articles, Genetics (clinical), 0303 health sciences, Coloboma, biology, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Phenotype, Pedigree, 3. Good health, DNA-Binding Proteins, Female, Research Article, Adult, retinoic acid receptor beta, TFAP2A, Structure-Activity Relationship, 03 medical and health sciences, custom capture, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Protein Interaction Domains and Motifs, Gene, Genetic Association Studies, 030304 developmental biology, high‐throughput sequencing, Infant, DNA-binding domain, biology.organism_classification, medicine.disease, Molecular biology, eye diseases, HEK293 Cells, Mutation, sense organs

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d79f3ba7d32292165c9b19b2c35441c0Test
https://doi.org/10.1002/humu.23954Test

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. 18(3)

مصطلحات موضوعية: Cancer Research, Tetraspanins, Pedigree, Macular Degeneration, Phenotype, Gene Frequency, Mutation, Genetics, Humans, Stargardt Disease, ATP-Binding Cassette Transporters, Eye Proteins, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac3602e3dd542120213707bbbd8b123Test
https://pubmed.ncbi.nlm.nih.gov/35353811Test

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: Charles P. Venditti, Kevin Bishop, Madeline L Arnold, Jennifer L. Sloan, Niraj S. Trivedi, Nathan P. Achilly, Raman Sood, MaryPat Jones, Abdel G. Elkahloun, Trevor Blake, Victoria Hoffmann, Ursula Harper, Jerrel L Catlett, Stacie M. Anderson, Milton A. English, Brian P. Brooks

المصدر: Hum Mol Genet

مصطلحات موضوعية: Methylmalonic acidemia, Cobalamin, Retina, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Genetics, medicine, Morphogenesis, Animals, Humans, Methionine synthase, Vitamin B12, Molecular Biology, Genetics (clinical), Zebrafish, 030304 developmental biology, 0303 health sciences, biology, nutritional and metabolic diseases, Optic Nerve, Vitamin B 12 Deficiency, General Medicine, Zebrafish Proteins, Hydroxocobalamin, medicine.disease, MMACHC, Cell biology, Vitamin B 12, chemistry, Methylcobalamin, Mutation, biology.protein, Homocystinuria, General Article, CBLC, Carrier Proteins, Oxidoreductases, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::078b9898da862cab32e21329fdd17171Test
https://pubmed.ncbi.nlm.nih.gov/32186706Test

المؤلفون: Robert B. Hufnagel, Temesgen D. Fufa, Brian P. Brooks, David M. McGaughey, John M Bryan, Kapil Bharti

المصدر: Human Molecular Genetics. 27:3325-3339

مصطلحات موضوعية: 0301 basic medicine, genetic structures, Genomics, Retinal Pigment Epithelium, Computational biology, Biology, Eye, computer.software_genre, Retina, Cornea, Correlation, Mice, 03 medical and health sciences, 0302 clinical medicine, Gene expression, Genetics, medicine, Animals, Humans, Cluster analysis, Molecular Biology, Gene, Genetics (clinical), Retinal pigment epithelium, Choroid, High-Throughput Nucleotide Sequencing, General Medicine, Expression (mathematics), eye diseases, Workflow, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Organ Specificity, Gene Ontology Term Enrichment, Human eye, General Article, Data mining, sense organs, computer, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495dd4e39774bf3e363d0b116ab2bf06Test
https://doi.org/10.1093/hmg/ddy239Test

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: Andrew J. Waskiewicz, Joe Rainger, Souparnika H. Manjunath, Ramakrishna P. Alur, Christina Gerth-Kahlert, Erin Strachan, Sonya A. Widen, Anand Swaroop, Rinki Ratnapriya, Tiansen Li, Brian P. Brooks, James A B Floyd, Kathleen A. Williamson, Chunqiao Liu, Ordan J. Lehmann, Archana Balakrishnan, David R. FitzPatrick

المساهمون: University of Zurich, Swaroop, Anand

المصدر: Liu, C, Widen, S, Williamson, K, Ratnapriya, R, Gerth-Kahlert, C, Rainger, J, Alur, R, Strachan, E, Manjanath, S, Balakrishnan, A, Floyd, J, Li, T, Waskiewicz, A, Brooks, B, Lehmann, O J & FitzPatrick, D & Swaroop, A 2016, ' A Secreted WNT-Ligand Binding Domain of FZD5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma ', Human Molecular Genetics . https://doi.org/10.1093/hmg/ddw020Test

مصطلحات موضوعية: 10018 Ophthalmology Clinic, Male, 0301 basic medicine, 2716 Genetics (clinical), congenital, hereditary, and neonatal diseases and abnormalities, Frizzled, DNA Mutational Analysis, 610 Medicine & health, Biology, medicine.disease_cause, Microphthalmia, Frameshift mutation, Mice, 03 medical and health sciences, 1311 Genetics, Mutant protein, 1312 Molecular Biology, Genetics, medicine, Animals, Humans, Microphthalmos, Eye Abnormalities, Frameshift Mutation, Wnt Signaling Pathway, Molecular Biology, Zebrafish, Genetics (clinical), Coloboma, Mutation, Wnt signaling pathway, Articles, General Medicine, medicine.disease, Molecular biology, Frizzled Receptors, eye diseases, Pedigree, Transmembrane domain, 030104 developmental biology, Female, sense organs

وصف الملف: application/pdf; Hum. Mol. Genet.-2016-Liu-1382-91.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44515564fa3be962b61b689bcf073f1bTest
https://doi.org/10.1093/hmg/ddw020Test

المؤلفون: Laryssa A. Huryn, Tadafumi Yokoyama, Elena-Raluca Nicoli, Bernadette R. Gochuico, Kevin J. O'Brien, Dong Chen, Brian P. Brooks, David R. Adams, Steve Titus, Nathanial J. Tolman, Joshi Stephen, William A. Gahl, May Christine V. Malicdan

المصدر: PLoS ONE, Vol 12, Iss 3, p e0173682 (2017)
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, Proband, Viral Diseases, lcsh:Medicine, Artificial Gene Amplification and Extension, medicine.disease_cause, Polymerase Chain Reaction, White Blood Cells, 0302 clinical medicine, Animal Cells, hemic and lymphatic diseases, Medicine and Health Sciences, Alveolar Macrophages, lcsh:Science, Connective Tissue Cells, Staining, Mutation, Multidisciplinary, integumentary system, Cell Staining, Oculocutaneous albinism, Phenotypes, Infectious Diseases, Connective Tissue, Hermanski-Pudlak Syndrome, 030220 oncology & carcinogenesis, Cellular Structures and Organelles, Cellular Types, Anatomy, Research Article, Neglected Tropical Diseases, Albinism, Immune Cells, Immunology, HPS5, Biology, Hantavirus Pulmonary Syndrome, Research and Analysis Methods, 03 medical and health sciences, Organelle, medicine, Intronic Mutation, Genetics, Humans, Molecular Biology Techniques, Molecular Biology, Blood Cells, lcsh:R, Biology and Life Sciences, Cell Biology, Fibroblasts, medicine.disease, Tropical Diseases, Molecular biology, eye diseases, Bleeding diathesis, 030104 developmental biology, Biological Tissue, Specimen Preparation and Treatment, lcsh:Q, Hermansky–Pudlak syndrome, Lysosomes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a72467ef3638fb23baa248d295b0db53Test
http://europepmc.org/articles/PMC5351877?pdf=renderTest