LG
Long Guo
Xi'an Jiaotong University, RIKEN Center for Integrative Medical Sciences, Kyoto University, RIKEN
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Connective tissue disorders research · Bone Metabolism and Diseases · Genomics and Rare Diseases
0000-0002-9660-6941
Employment
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Xi'an Jiaotong University Professor2023 - Present
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RIKEN Center for Integrative Medical Sciences Deputy Team Leader2021 - 2023
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RIKEN Senior Scientist2021 - 2021
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RIKEN Research Scientist2019 - 2021
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RIKEN Postdoctoral Researcher2016 - 2018
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Kyoto University Research Associate2015 - 2016
Education
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Kyoto University MD, PhD2011 - 2015
Projects & Funding
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The functional study of TMEM53 causing a novel type of sclerosing bone disorder The Japanese Society　for Bone and Mineral Research2020 - 2021
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Pathogenic analysis of idiopathic scoliosis using conditional knock-out mice of Gpr126 Japan Society for the Promotion of Science2017 - 2019
Publications (40)
- ClustView: Point clustering and depth view fusion for point cloud analysis Save
- Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II Save
- Identification of a de novo PUF60 variant associated with craniofacial microsomia Save
- Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans Save
- A novel CCDC91 isoform associated with ossification of the posterior longitudinal ligament of the spine works as a non-coding RNA to regulate osteogenic genes Save
- SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis Save
- De novo heterozygous variants in KIF5B cause kyphomelic dysplasia Save
- From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R Save
- The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins Save
- Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling Save
- Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis. Save
- Identification of a Functional Susceptibility Variant for Adolescent Idiopathic Scoliosis that Upregulates Early Growth Response 1 (EGR1)-Mediated UNCX Expression Save
- SLC4A2 Deficiency Causes a New Type of Osteopetrosis Save
- Genetic disorders associated with the RANKL/OPG/RANK pathway Save
- CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage Save
- Recapitulating the human segmentation clock with pluripotent stem cells Save
- Genome sequencing in persistently unsolved white matter disorders Save
- Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses Save
- Crim1C140S mutant mice reveal the importance of cysteine 140 in the internal region 1 of CRIM1 for its physiological functions Save
- Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis Save