المؤلفون: Ban, Yue, Yu, Ting, Wang, Jingyi, Wang, Xiaojia, Liu, Can, Baker, Clayton, Zou, Yimin

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Psychology, Epilepsy, Brain Disorders, Mental Health, Pediatric, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Genetics, Neurosciences, Behavioral and Social Science, Autism, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Adaptor Proteins, Signal Transducing, Animals, Autism Spectrum Disorder, Disease Models, Animal, Gene Editing, Humans, LIM Domain Proteins, Mice, Mutation, Phenotype, Prickle1, Prickle1 R104Q, Mouse model, Seizure threshold, Three-chamber social interaction assay, Barnes maze, Novel object recognition, Planar cell polarity, REST, Clinical Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/410914qvTest

المؤلفون: Chang, Amelia N, Liang, Zhuoyi, Dai, Hai-Qiang, Chapdelaine-Williams, Aimee M, Andrews, Nick, Bronson, Roderick T, Schwer, Bjoern, Alt, Frederick W

المصدر: Nature. 563(7729)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Stem Cell Research - Embryonic - Non-Human, Regenerative Medicine, Stem Cell Research - Nonembryonic - Non-Human, Genetics, Pediatric, Stem Cell Research, Neurosciences, 1.1 Normal biological development and functioning, Underpinning research, Animals, Blastocyst, Chimera, DNA-Binding Proteins, Doublecortin Domain Proteins, Female, Genetic Complementation Test, Germ Cells, Hippocampus, Male, Mice, Mice, Transgenic, Microtubule-Associated Proteins, Mouse Embryonic Stem Cells, Neocortex, Neurons, Neuropeptides, Organogenesis, Phenotype, Prosencephalon, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8g66d2bcTest

المؤلفون: He, Reqing, Li, Xinmei, Zhong, Ming, Yan, Jindong, Ji, Ronghuan, Li, Xu, Wang, Qin, Wu, Dan, Sun, Mengsi, Tang, Dongying, Lin, Jianzhong, Li, Hongyu, Liu, Bin, Liu, Hongtao, Liu, Xuanming, Zhao, Xiaoying, Lin, Chentao

المصدر: The Plant Journal. 91(5)

مصطلحات موضوعية: Plant Biology, Biological Sciences, Genetics, Biotechnology, Arabidopsis, Arabidopsis Proteins, F-Box Proteins, Flowers, Gene Expression Regulation, Plant, Light, MADS Domain Proteins, Mutation, Phenotype, Plants, Genetically Modified, F-box protein, FOF2, FLOWERING LOCUS C, flowering, light, autonomous pathway, Arabidopsis thaliana, Arabidopsis thaliana, FLOWERING LOCUS C, Biochemistry and Cell Biology, Plant Biology & Botany, Biochemistry and cell biology, Plant biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0hf5f23bTest

المؤلفون: Guimarães-Camboa, Nuno, Cattaneo, Paola, Sun, Yunfu, Moore-Morris, Thomas, Gu, Yusu, Dalton, Nancy D, Rockenstein, Edward, Masliah, Eliezer, Peterson, Kirk L, Stallcup, William B, Chen, Ju, Evans, Sylvia M

المصدر: Cell Stem Cell. 20(3)

مصطلحات موضوعية: Stem Cell Research - Nonembryonic - Non-Human, Stem Cell Research, Regenerative Medicine, Transplantation, Underpinning research, 1.1 Normal biological development and functioning, Adipocytes, Aging, Cell Lineage, Cicatrix, Fibroblasts, Gene Expression Regulation, Developmental, Green Fluorescent Proteins, Humans, Integrases, Mesenchymal Stem Cells, Muscle Development, Muscle, Smooth, Vascular, Myocytes, Smooth Muscle, Neurons, Organ Specificity, Pericytes, Phenotype, Receptor, Platelet-Derived Growth Factor beta, T-Box Domain Proteins, lineage tracing, mesenchymal stem cells, mural cells, pericytes, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2g80q7zkTest

المؤلفون: Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M, Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L, Chung, Wendy K, Berger, Rolf M F, Bogaard, Harm Jan, Danhaive, Olivier, Escribano-Subías, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara M A, Kerstjens-Frederikse, Wilhelmina, Kiely, David G, Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J, Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, A A Roger, Wharton, John, Wort, Stephen J, Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M, Martin, Jennifer M, Li, Wei, Swift, Andrew J, Upton, Paul D, Morrell, Nicholas W, Gräf, Stefan, Valverde, Diana, NIHR BioResource for Translational Research–Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, PAH Biobank Enrolling Centers’ Investigators

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de néonatologie

المصدر: American journal of respiratory and critical care medicine, Vol. 206, no.12, p. 1522-1533 (2022)

مصطلحات موضوعية: Humans, Gain of Function Mutation, T-Box Domain Proteins, Bone Morphogenetic Protein Receptors, Type II, Phenotype, Lung Diseases, Mutation, Genotype, TBX4, gain-of-function, interstitial lung disease, lung developmental disease, pulmonary arterial hypertension

العلاقة: boreal:278235; http://hdl.handle.net/2078.1/278235Test; info:pmid/35852389; urn:ISSN:1073-449X; urn:EISSN:1535-4970

الإتاحة: https://doi.org/10.1164/rccm.202203-0485OCTest
http://hdl.handle.net/2078.1/278235Test

المؤلفون: Shen, J, Chen, Y, Zhang, T, Zhang, J, Choy, K, Wang, J, Wang, Q, Li, S, Zhou, W, Guo, J, Wang, Y, Zhang, C, Zhao, Hong, An, Yu, Zhao, Yu, Liu, Z, Zuo, Y, Tian, Y, Weng, X, Sutton, V, Wang, H, Ming, Y, Kulkarni, S, Zhong, T, Giampietro, P, Dunwoodie, S, Cheung, S, Zhang, X, Jin, L, Lupski, J, Qiu, G, Zhang, F, Wu, N, Ming, X, Xiao, J, Wu, Z, Chen, X, Shinawi, M, Shen, Y, Yu, G, Liu, J, Xie, H, Gucev, Z, Liu, S, Yang, N, Al-Kateb, H, Chen, J, Hauser, N, Tasic, V, Liu, P, Su, X, Pan, X, Liu, C, Wang, L, Shen, Joseph

المصدر: The New England Journal of Medicine. 372(4)

مصطلحات موضوعية: Adolescent, Asian People, Child, Child, Preschool, Chromosomes, Human, Pair 16, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Mutation, Pedigree, Phenotype, Radiography, Scoliosis, Sequence Deletion, Spine, T-Box Domain Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4v9775d7Test

المؤلفون: Funato, Noriko, Nakamura, Masataka, Richardson, James A, Srivastava, Deepak, Yanagisawa, Hiromi

المصدر: Human Molecular Genetics. 24(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Congenital Structural Anomalies, Rare Diseases, Pediatric, Osteoporosis, Dental/Oral and Craniofacial Disease, Stem Cell Research, Underpinning research, 2.1 Biological and endogenous factors, Aetiology, 1.1 Normal biological development and functioning, Musculoskeletal, Animals, Bone and Bones, Cell Differentiation, Cleidocranial Dysplasia, Core Binding Factor Alpha 1 Subunit, Humans, Mesoderm, Mice, Mice, Knockout, Neural Crest, Osteoblasts, Phenotype, T-Box Domain Proteins, Medical and Health Sciences, Genetics & Heredity

الوصول الحر: https://escholarship.org/uc/item/33t9s930Test

المؤلفون: Buckingham, Kati J, McMillin, Margaret J, Brassil, Margaret M, Shively, Kathryn M, Magnaye, Kevin M, Cortes, Alejandro, Weinmann, Amy S, Lyons, Leslie A, Bamshad, Michael J

المصدر: Mammalian Genome. 24(9-10)

مصطلحات موضوعية: Biotechnology, Genetics, 2.1 Biological and endogenous factors, Aetiology, Alleles, Amino Acid Sequence, Animals, Cats, Cell Line, Tumor, Female, Fetal Proteins, Gene Frequency, Genetic Association Studies, Haploinsufficiency, Lod Score, Male, Mice, Molecular Sequence Data, Pedigree, Phenotype, Sequence Analysis, DNA, Sequence Deletion, T-Box Domain Proteins, Tail, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5nr3917qTest

المؤلفون: Lu, W, Bacino, CA, Richards, BS, Alvarez, C, VanderMeer, JE, Vella, M, Ahituv, N, Sikka, N, Dietz, FR, Blanton, SH, Hecht, JT

المصدر: American Journal of Medical Genetics Part A, vol 158A. (7)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Pediatric, Clinical Research, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Alleles, Base Sequence, Chromosome Duplication, Chromosomes, Human, Pair 17, Clubfoot, DNA Copy Number Variations, Enhancer Elements, Genetic, Female, Humans, Male, Pedigree, Phenotype, Polymorphism, Single Nucleotide, T-Box Domain Proteins, clubfoot, genetics, TBX4, microduplication, association, malformation, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/63q0m927Test

المؤلفون: Guozhuang Li, Alanna Strong, Haojun Wang, Ji‐Sun Kim, Deborah Watson, Sen Zhao, Courtney Vaccaro, Erum Hartung, Hakon Hakonarson, Terry Jianguo Zhang, Philip F. Giampietro, Nan Wu

المصدر: American Journal of Medical Genetics Part A. 188:3469-3481

مصطلحات موضوعية: Kidney Tubules, Proximal, Phenotype, Scoliosis, Genetics, Humans, T-Box Domain Proteins, Osteochondrodysplasias, Spine, Genetics (clinical), Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d2667448bc2b569fbf24e3c11cb852dTest
https://doi.org/10.1002/ajmg.a.62972Test