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A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers‐Danlos syndrome: A case report and literature review.
- Published in:
- Neuropathology & Applied Neurobiology, 2024, v. 50, n. 4, p. 1, doi. 10.1111/nan.13004
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- Article
Small Molecules Temporarily Induce Neuronal Features in Adult Canine Dermal Fibroblasts.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 21, p. 15804, doi. 10.3390/ijms242115804
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- Article
Correction to: Profilin-1 negatively controls osteoclast migration by suppressing the protrusive structures based on branched actin filaments.
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- 2023
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- Correction Notice
Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers‐Danlos syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2631, doi. 10.1002/ajmg.a.63328
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- Article
Profilin-1 negatively controls osteoclast migration by suppressing the protrusive structures based on branched actin filaments.
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- Journal of Bone & Mineral Metabolism, 2022, v. 40, n. 4, p. 561, doi. 10.1007/s00774-022-01320-y
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- Article
Collagen XII Deficiency Increases the Risk of Anterior Cruciate Ligament Injury in Mice.
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- Journal of Clinical Medicine, 2021, v. 10, n. 18, p. 4051, doi. 10.3390/jcm10184051
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- Article
Profilin 1 Negatively Regulates Osteoclast Migration in Postnatal Skeletal Growth, Remodeling, and Homeostasis in Mice.
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- JBMR Plus, 2019, v. 3, n. 6, p. N.PAG, doi. 10.1002/jbm4.10130
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- Article
Profilin1 is expressed in osteocytes and regulates cell shape and migration.
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- Journal of Cellular Physiology, 2018, v. 233, n. 1, p. 259, doi. 10.1002/jcp.25872
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- Article
FGF Suppresses Poldip2 Expression in Osteoblasts.
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- Journal of Cellular Biochemistry, 2017, v. 118, n. 7, p. 1670, doi. 10.1002/jcb.25813
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- Article
Lgr4 Expression in Osteoblastic Cells Is Suppressed by Hydrogen Peroxide Treatment.
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- Journal of Cellular Physiology, 2017, v. 232, n. 7, p. 1761, doi. 10.1002/jcp.25684
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- Article
Easi-CRISPR: a robust method for one-step generation of mice carrying conditional and insertion alleles using long ssDNA donors and CRISPR ribonucleoproteins.
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- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1220-4
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- Article
Gene cassette knock-in in mammalian cells and zygotes by enhanced MMEJ.
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- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3331-9
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- Article
Interleukin-1β Suppresses the Transporter Genes Ank and Ent1 Expression in Stromal Progenitor Cells Retaining Mineralization.
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- 2016
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- Publication type:
- journal article
Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis.
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- Cell & Tissue Research, 2016, v. 364, n. 3, p. 623, doi. 10.1007/s00441-015-2345-y
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- Article
Erratum to: Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis.
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- 2016
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- Erratum
Cathepsin K Deficiency Suppresses Disuse-Induced Bone Loss.
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- Journal of Cellular Physiology, 2016, v. 231, n. 5, p. 1163, doi. 10.1002/jcp.25214
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- Article
Mice Deficient in CIZ/NMP4 Develop an Attenuated Form of K/BxN-Serum Induced Arthritis.
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- Journal of Cellular Biochemistry, 2016, v. 117, n. 4, p. 970, doi. 10.1002/jcb.25382
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- Article
BMP-2 Enhances Lgr4 Gene Expression in Osteoblastic Cells.
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- Journal of Cellular Physiology, 2016, v. 231, n. 4, p. 887, doi. 10.1002/jcp.25180
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- Article
Profilin Expression Is Regulated by Bone Morphogenetic Protein (BMP) in Osteoblastic Cells.
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- Journal of Cellular Biochemistry, 2016, v. 117, n. 3, p. 621, doi. 10.1002/jcb.25310
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- Publication type:
- Article
Beta Adrenergic Receptor Stimulation Suppresses Cell Migration in Association with Cell Cycle Transition in Osteoblasts-Live Imaging Analyses Based on FUCCI System.
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- Journal of Cellular Physiology, 2016, v. 231, n. 2, p. 496, doi. 10.1002/jcp.25096
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- Article
TGF-β Suppresses Ift88 Expression in Chondrocytic ATDC5 Cells.
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- Journal of Cellular Physiology, 2015, v. 230, n. 11, p. 2788, doi. 10.1002/jcp.25005
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- Article
β<sub>₂</sub>Adrenergic Receptor Activation Suppresses Bone Morphogenetic Protein (BMP)-Induced Alkaline Phosphatase Expression in Osteoblast-Like MC3T3E1 Cells.
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- Journal of Cellular Biochemistry, 2015, v. 116, n. 6, p. 1144, doi. 10.1002/jcb.25071
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- Article
Accumulation of type VI collagen in the primary osteon of the rat femur during postnatal development.
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- Journal of Anatomy, 2015, v. 226, n. 5, p. 478, doi. 10.1111/joa.12296
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- Publication type:
- Article
PTH Regulates β2-Adrenergic Receptor Expression in Osteoblast-Like MC3T3-E1 Cells.
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- Journal of Cellular Biochemistry, 2015, v. 116, n. 1, p. 142, doi. 10.1002/jcb.24953
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- Publication type:
- Article
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
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- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2339, doi. 10.1093/hmg/ddt627
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- Article
Type XII collagen regulates osteoblast polarity and communication during bone formation.
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- Journal of Cell Biology, 2011, v. 193, n. 6, p. 1115, doi. 10.1083/jcb.201010010
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- Article
Osteoclast-specific Dicer gene deficiency suppresses osteoclastic bone resorption.
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- Journal of Cellular Biochemistry, 2010, v. 109, n. 5, p. 866, doi. 10.1002/jcb.22228
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- Article
JunD suppresses bone formation and contributes to low bone mass induced by estrogen depletion.
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- Journal of Cellular Biochemistry, 2008, v. 103, n. 4, p. 1037, doi. 10.1002/jcb.21660
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- Publication type:
- Article
PlexinD1 deficiency induces defects in axial skeletal morphogenesis.
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- Journal of Cellular Biochemistry, 2007, v. 101, n. 6, p. 1329, doi. 10.1002/jcb.21306
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- Article