نتائج البحث - "Brian P Brooks"

1

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

المؤلفون: Nicholas Owen, Maria Toms, Rodrigo M. Young, Jonathan Eintracht, Hajrah Sarkar, Brian P. Brooks, Mariya Moosajee, J.C. Ambrose, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, Burca A. de, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, J.E. Holman, T.J.P. Hubbard, R. Jackson, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki

المصدر: Genetics in Medicine. 24:1073-1084

مصطلحات موضوعية: Ankyrins, Coloboma, Mice, Phenotype, Animals, Humans, Microphthalmos, Genetic Testing, Bone Morphogenetic Protein Receptors, Type I, Zebrafish, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abcc2c448dd2359acc7f64e01c39af8Test
https://doi.org/10.1016/j.gim.2021.12.014Test

2

Gain-of-function mutations in

المؤلفون: Christina Torres, Kozycki, Shilpa, Kodati, Laryssa, Huryn, Hongying, Wang, Blake M, Warner, Priyam, Jani, Dima, Hammoud, Mones S, Abu-Asab, Yingyos, Jittayasothorn, Mary J, Mattapallil, Wanxia Li, Tsai, Ehsan, Ullah, Ping, Zhou, Xiaoying, Tian, Ariane, Soldatos, Niki, Moutsopoulos, Marie, Kao-Hsieh, Theo, Heller, Edward W, Cowen, Chyi-Chia Richard, Lee, Camilo, Toro, Shelley, Kalsi, Zohreh, Khavandgar, Alan, Baer, Margaret, Beach, Debra, Long Priel, Michele, Nehrebecky, Sofia, Rosenzweig, Tina, Romeo, Natalie, Deuitch, Laurie, Brenchley, Eileen, Pelayo, Wadih, Zein, Nida, Sen, Alexander H, Yang, Gary, Farley, David A, Sweetser, Lauren, Briere, Janine, Yang, Fabiano, de Oliveira Poswar, Ida Vanessa D, Schwartz, Tamires, Silva Alves, Perrine, Dusser, Isabelle, Koné-Paut, Isabelle, Touitou, Salah Mohamed, Titah, Petrus Martin, van Hagen, Rogier T A, van Wijck, Peter J, van der Spek, Hiromi, Yano, Andreas, Benneche, Ellen M, Apalset, Ragnhild Wivestad, Jansson, Rachel R, Caspi, Douglas Byron, Kuhns, Massimo, Gadina, Hidetoshi, Takada, Hiroaki, Ida, Ryuta, Nishikomori, Elena, Verrecchia, Eugenio, Sangiorgi, Raffaele, Manna, Brian P, Brooks, Lucia, Sobrin, Robert B, Hufnagel, David, Beck, Feng, Shao, Amanda K, Ombrello, Ivona, Aksentijevich, Daniel L, Kastner, Rachel, Mahoney

المصدر: Annals of the rheumatic diseases. 81(10)

مصطلحات موضوعية: Inflammation, Serum Amyloid A Protein, Hereditary Autoinflammatory Diseases, NF-kappa B, Amyloidosis, Syndrome, Cohort Studies, Mice, Gain of Function Mutation, Mutation, Quality of Life, Animals, Humans, Tumor Necrosis Factor Inhibitors, Protein Kinases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c3e3c21bd5ada9cddabd90227704b7efTest
https://pubmed.ncbi.nlm.nih.gov/35868845Test

3

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

المساهمون: ACS - Heart failure & arrhythmias, Graduate School, Cardiology, Human Genetics, ACS - Pulmonary hypertension & thrombosis, Medical Biology

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature communications, 10(1). Nature Publishing Group
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Blepharoptosis/genetics, Organogenesis, DNA Mutational Analysis, General Physics and Astronomy, 02 engineering and technology, Retinal Pigment Epithelium, Eye, Inbred C57BL, Whole Exome Sequencing, Mice, Ptosis, Missense mutation, Blepharoptosis, Microphthalmos, Colobomatous microphthalmia, Kidney Diseases/genetics, lcsh:Science, Child, Frameshift Mutation, Zebrafish, Cells, Cultured, Mice, Knockout, Coloboma, Multidisciplinary, Cultured, biology, Syndactyly/genetics, Adolescent, Adult, Animals, Cadherins, Child, Preschool, Embryo, Mammalian, Facial Bones, Female, Humans, Intercellular Junctions, Kidney Diseases, Mice, Inbred C57BL, Primary Cell Culture, Syndactyly, Syndrome, Young Adult, Zebrafish Proteins, Coloboma/genetics, 021001 nanoscience & nanotechnology, Microphthalmos/genetics, 3. Good health, Embryo, medicine.symptom, Technology Platforms, nephropathy, mutations, FAT1, 0210 nano-technology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Cells, Knockout, Science, Article, General Biochemistry, Genetics and Molecular Biology, Frameshift mutation, 03 medical and health sciences, Zebrafish Proteins/genetics, Exome Sequencing, medicine, Facial Bones/abnormalities, Preschool, Organogenesis/genetics, business.industry, Cadherins/genetics, Mammalian, General Chemistry, medicine.disease, biology.organism_classification, eye diseases, Intercellular Junctions/metabolism, Eye/embryology, 030104 developmental biology, Retinal Pigment Epithelium/cytology, Eye development, lcsh:Q, sense organs, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813282bd9ed009737dce5ec983af210bTest
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3Test

4

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology

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

5

Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks

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

6

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

المصدر: Cell Reports, Vol 22, Iss 1, Pp 189-205 (2018)
Cell reports

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c774b760ad4778bc6205247b85fcf4Test
http://www.sciencedirect.com/science/article/pii/S2211124717318478Test

7

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

المؤلفون: Meral Gunay-Aygun, Hiroko Shimada, Christopher J. Westlake, Artur V. Cideciyan, Milton A. English, Kunio Nagashima, Tiansen Li, Anand Swaroop, Quanlong Lu, Brian P. Brooks, Christine Insinna-Kettenhofen, Elizabeth M. Semler, Samuel G. Jacobson, Tiziana Cogliati, Jacklyn Mahgerefteh

المصدر: Cell Reports, Vol 20, Iss 2, Pp 384-396 (2017)

مصطلحات موضوعية: 0301 basic medicine, genetic structures, Hedgehog signaling, Cell Cycle Proteins, Ciliopathies, Receptors, G-Protein-Coupled, Mice, 0302 clinical medicine, Induced pluripotent stem cell, lcsh:QH301-705.5, Mice, Knockout, iPSC, ADP-Ribosylation Factors, LCA, Cilium, Homozygote, Smoothened Receptor, Hedgehog signaling pathway, Neoplasm Proteins, Cell biology, Adenylyl Cyclases, Cell signaling, organoid, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, primary cilia, Antigens, Neoplasm, Joubert syndrome, Ciliogenesis, medicine, Animals, Humans, Hedgehog Proteins, Cilia, Alleles, Fibroblasts, medicine.disease, eye diseases, Cytoskeletal Proteins, Ciliopathy, 030104 developmental biology, lcsh:Biology (General), Mutation, retinal degeneration, ciliopathies, ciliary transition zone, sense organs, Smoothened, ciliogenesis, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd613ec86ac5d639be83bfc56b39b754Test
https://doi.org/10.1016/j.celrep.2017.06.045Test

8

Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion

المؤلفون: Holly Hardy, Hannah Kroeger, Violeta Trejo-Reveles, Lisa V. Goodrich, Aara Patel, Joe Rainger, Sunit Dutta, James Prendergast, Andrea R. Yung, Brian P. Brooks, Jane C. Sowden

المصدر: Hardy, H, Prendergast, J, Patel, A, Dutta, S, Trejo-Reveles, V, Kroeger, H, Yung, A, Goodrich, L, Brooks, B P, Sowden, J & Rainger, J 2019, ' Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion : . ', eLIFE, vol. 8, e43877, pp. 1-23 . https://doi.org/10.7554/eLife.43877Test
eLife
eLife, Vol 8 (2019)

مصطلحات موضوعية: 0301 basic medicine, Mouse, Apoptosis, Chick Embryo, Eye, Mice, CHARGE syndrome, 0302 clinical medicine, Netrin, Biology (General), Zebrafish, Conserved Sequence, cleft palate, Coloboma, biology, General Neuroscience, Gene Expression Regulation, Developmental, Embryo, General Medicine, Netrin-1, Chicken, Cell biology, embryonic structures, epithelial fusion, Optic Fissure, Medicine, Research Article, Human, animal structures, QH301-705.5, Science, optic fissure closure, General Biochemistry, Genetics and Molecular Biology, Evolution, Molecular, 03 medical and health sciences, Mediator, medicine, Animals, Humans, Human Biology and Medicine, General Immunology and Microbiology, Palate, Gene Expression Profiling, Epithelial Cells, biology.organism_classification, medicine.disease, netrin, 030104 developmental biology, Chickens, Developmental biology, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52b500df15bf606995a5a05e2f4dd7cTest
https://www.pure.ed.ac.uk/ws/files/181349148/elife_43877_v2_1_.pdfTest

9

Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients

المؤلفون: Johnny Tam, Tao Liu, Margery G. Smelkinson, Catherine A Cukras, Laryssa A. Huryn, Brian P. Brooks, Aman George, Sarah S. Cohen, Kapil Bharti, Arvydas Maminishkis, Ruchi Sharma, Jianfei Liu, Owen Schwartz, HaeWon Jung, Robert N. Fariss

المصدر: JCI Insight. 4

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f280d9afe67f143a0ecc4dcdfc9462Test
https://doi.org/10.1172/jci.insight.124904Test

10

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

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

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