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1,375 results on '"Lin, Y.C."'

166. Comparison of gastrointestinal microbiota in golden snub-nosed monkey (Rhinopithecus roxellanae), green monkey (Chlorocebus aethiops sabaeus), and ring-tailed Lemur (Lemur catta) by high throughput sequencing

Author

Zeng, Y., primary, Pu, Y., additional, Niu, L.L, additional, Deng, J.B., additional, Zeng, D., additional, Amato, K.R., additional, Li, Y., additional, Zhou, Y., additional, Lin, Y.C., additional, Wang, J., additional, Wu, L.Q., additional, Chen, B.H., additional, Pan, K.C., additional, Jing, B., additional, and Ni, X.Q., additional

Published
2021
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194. Surface Modification of Addition Manufactured Ti–6Al–4V Alloys by Ultraviolet Pulsed Laser Scanning Technique: Morphologies, Roughness And Electrical Properties

Author

Yang C.C, W T Hsiao, Lin Y.C, Lin K.M, Tseng S.F, Ding C.F, Chang C.M, and Huang K.C

Subjects
Materials science, Biocompatibility, Titanium alloy, Surface finish, medicine.disease_cause, Industrial and Manufacturing Engineering, Osseointegration, Surface roughness, medicine, Surface modification, Electrical and Electronic Engineering, Selective laser melting, Composite material, Instrumentation, Ultraviolet
Published
2021

198. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Author

Lin, Y.C., Niceta, M., Muto, V., Vona, B., Pagnamenta, A.T., Maroofian, R., Beetz, C., Duyvenvoorde, H. van, Dentici, M.L., Lauffer, P., Vallian, S., Ciolfi, A., Pizzi, S., Bauer, P., Gruning, N.M., Bellacchio, E., Fattore, A. del, Petrini, S., Shaheen, R., Tiosano, D., Halloun, R., Pode-Shakked ben, Albayrak, H.M., Isik, E., Wit, J.M., Dittrich, M., Freire, B.L., Bertola, D.R., Jorge, A.A.L., Barel, O., Sabir, A.H., Tenaiji, A.M.J. al, Taji, S.M., Al-Sannaa, N., Al-Abdulwahed, H., Digilio, M.C., Irving, M., Anikster, Y., Bhavani, G.S.L., Girisha, K.M., Haaf, T., Taylor, J.C., Dallapiccola, B., Alkuraya, F.S., Yang, R.B., Tartaglia, M., Genomics England Res Consortium, Consortium, Genomics England Research, Graduate School, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, and AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

Subjects
Male, 0301 basic medicine, SCUBE, Developmental Disabilities, mechanism of disease, Morphogenesis, Bone Morphogenetic Protein 2, morphogenesis, Bone Morphogenetic Protein 4, Biology, Bone morphogenetic protein, Bone morphogenetic protein 2, Article, Bone and Bones, Cell Line, Mice, 03 medical and health sciences, 0302 clinical medicine, Osteogenesis, Cell Line, Tumor, bone morphogenetic protein, Genetics, Animals, Humans, BMP, Receptor, Genetics (clinical), Loss function, Mice, Inbred C3H, Calcium-Binding Proteins, intracellular signaling, Gene Expression Regulation, Developmental, skeletal development, Hep G2 Cells, Chondrogenesis, Phenotype, Endochondral bone growth, Cell biology, Mice, Inbred C57BL, HEK293 Cells, 030104 developmental biology, Bone Morphogenetic Proteins, genomic sequencing, MCF-7 Cells, Intercellular Signaling Peptides and Proteins, Female, BMP receptors, 030217 neurology & neurosurgery, Signal Transduction
Abstract

Summary Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for a variety of growth factors. Here we report that bi-allelic inactivating variants in SCUBE3 have pleiotropic consequences on development and cause a previously unrecognized syndromic disorder. Eighteen affected individuals from nine unrelated families showed a consistent phenotype characterized by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. In vitro functional validation studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, and their dysregulating effect on bone morphogenetic protein (BMP) signaling. We show that SCUBE3 acts as a BMP2/BMP4 co-receptor, recruits the BMP receptor complexes into raft microdomains, and positively modulates signaling possibly by augmenting the specific interactions between BMPs and BMP type I receptors. Scube3−/− mice showed craniofacial and dental defects, reduced body size, and defective endochondral bone growth due to impaired BMP-mediated chondrogenesis and osteogenesis, recapitulating the human disorder. Our findings identify a human disease caused by defective function of a member of the SCUBE family, and link SCUBE3 to processes controlling growth, morphogenesis, and bone and teeth development through modulation of BMP signaling.

Published
2021

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