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Addendum

Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias

Holly A LeddyDepartment of orthopedic Surgery; Duke University Medical Center; Durham, NCUSA

Amy L McNultyDepartment of orthopedic Surgery; Duke University Medical Center; Durham, NCUSA

Farshid GuilakDepartment of orthopedic Surgery; Duke University Medical Center; Durham, NCUSACorrespondence[email protected] [email protected]

Wolfgang LiedtkeDepartment of Neurology and Duke University Clinics for Pain and Palliative Care; Duke University Medical Center; Durham, NCUSACorrespondence[email protected] [email protected]

Article: e962971 | Received 05 Jun 2014, Accepted 03 Sep 2014, Published online: 30 Oct 2014

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https://doi.org/10.4161/2167549X.2014.962971
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Elyette Lugo, Eric Graulau, Edwardo Ramos Cortes, Simón Carlo & Norman Ramírez. (2023) Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report. Cureus.
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Tusar Kanta Acharya, Subhashis Pal, Arijit Ghosh, Shamit Kumar, Satish Kumar, Naibedya Chattopadhyay & Chandan Goswami. (2023) TRPV4 regulates osteoblast differentiation and mitochondrial function that are relevant for channelopathy. Frontiers in Cell and Developmental Biology 11.
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Amanda R Dicks, Grigory I Maksaev, Zainab Harissa, Alireza Savadipour, Ruhang Tang, Nancy Steward, Wolfgang Liedtke, Colin G Nichols, Chia-Lung Wu & Farshid Guilak. (2023) Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes. eLife 12.
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Hamideh P Fallah, Ekta Ahuja, Haoquan Lin, Jinlong Qi, Qian He, Shan Gao, Hailong An, Jian Zhang, Yongzhen Xie & Dong Liang. (2022) A Review on the Role of TRP Channels and Their Potential as Drug Targets_An Insight Into the TRP Channel Drug Discovery Methodologies. Frontiers in Pharmacology 13.
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Marie Maumus, Guillaume Fonteneau, Maxime Ruiz, Said Assou, Hassan Boukhaddaoui, Philippe Pastoureau, Frédéric De Ceuninck, Christian Jorgensen & Danièle Noel. (2021) Neuromedin B promotes chondrocyte differentiation of mesenchymal stromal cells via calcineurin and calcium signaling. Cell & Bioscience 11:1.
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Vincent P. Willard, Holly A. Leddy, Daniel Palmer, Chia‐Lung Wu, Wolfgang Liedtke & Farshid Guilak. (2021) Transient receptor potential vanilloid 4 as a regulator of induced pluripotent stem cell chondrogenesis. STEM CELLS 39:11, pages 1447-1456.
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Fumiko Hamabe, Hiromi Edo, Taro Yamashita, Hiroshi Matsumoto, Soichiro Tamada, Koji Sumi & Hiroshi Shinmoto. (2021) Mild metatropic dysplasia: emphasis on the magnetic resonance imaging of articular cartilage thickening. BJR|case reports 7:2, pages 20200155.
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Robert J. Nims, Lara Pferdehirt, Noelani B. Ho, Alireza Savadipour, Jeremiah LorentzSima Sohi, Jordan Kassab, Alison K. Ross, Christopher J. O’ConorWolfgang B. Liedtke, Bo Zhang, Amy L. McNulty & Farshid Guilak. (2021) A synthetic mechanogenetic gene circuit for autonomous drug delivery in engineered tissues. Science Advances 7:5.
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Yunus H. Ozekin, Trevor Isner & Emily A. Bates. (2020) Ion Channel Contributions to Morphological Development: Insights From the Role of Kir2.1 in Bone Development. Frontiers in Molecular Neuroscience 13.
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Gillian P. Johnson, Mathieu Riffault, Ian Woods & David A. Hoey. 2020. Encyclopedia of Bone Biology. Encyclopedia of Bone Biology 342 355 .

Fen Hu, Yali Zhao, Zhenhai Hui, Fulin Xing, Jianyu Yang, Imshik Lee, Xinzheng Zhang, Leiting Pan & Jingjun Xu. (2019) Regulation of intracellular Ca2+/CaMKII signaling by TRPV4 membrane translocation during osteoblastic differentiation. Biophysics Reports 5:5-6, pages 254-263.
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Ali Mobasheri, Csaba Matta, Ilona Uzielienè, Emma Budd, Pablo Martín-Vasallo & Eiva Bernotiene. (2019) Le « channelome » du chondrocyte. Revue narrative. Revue du Rhumatisme 86:2, pages 147-154.
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Stephanie L. Hines, John E. RichterJrJr, Ahmed N. Mohammad, Jain Mahim, Paldeep S. Atwal & Thomas R. Caulfield. (2019) Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV 4 variant causing an intermediate skeletal dysplasia . Molecular Genetics & Genomic Medicine 7:3, pages e566.
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Ali Mobasheri, Csaba Matta, Ilona Uzielienè, Emma Budd, Pablo Martín-Vasallo & Eiva Bernotiene. (2019) The chondrocyte channelome: A narrative review. Joint Bone Spine 86:1, pages 29-35.
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James S. Lyons, Humberto C. Joca, Robert A. LawKatrina M. WilliamsJaclyn P. KerrGuoli ShiRamzi J. Khairallah, Stuart S. MartinKonstantinos KonstantopoulosChristopher W. Ward & Joseph P. Stains. (2017) Microtubules tune mechanotransduction through NOX2 and TRPV4 to decrease sclerostin abundance in osteocytes. Science Signaling 10:506.
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Patrick Kanju & Wolfgang Liedtke. (2016) Pleiotropic function of TRPV4 ion channels in the central nervous system. Experimental Physiology 101:12, pages 1472-1476.
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Amy L. McNulty, Holly A. Leddy, Wolfgang Liedtke & Farshid Guilak. (2014) TRPV4 as a therapeutic target for joint diseases. Naunyn-Schmiedeberg's Archives of Pharmacology 388:4, pages 437-450.
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Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias

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Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias

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