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Items: 11

Select item 110760941.

Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type

Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Varsha M. Reddy, Dhananjaya K. Vamyanmane, Sanjay K. Shivappa, Rohih H. Ramesh, Gurudatta B. Vishwanathan

J Pediatr Genet. 2024 Jun; 13(2): 158–165. Published online 2022 Jan 6. doi: 10.1055/s-0041-1741424

PMCID:: PMC11076094

Abstract Article PDF–3.7M

Select item 70315892.

Metatropic Dysplasia of Nonlethal Variant in a Chinese Child – A Case Report

Michele A Tchio Tchoumba, Yan Bai, Runming Jin, Xianying Yu, Musa Male

Orthop Surg. 2020 Feb; 12(1): 333–336. Published online 2019 Dec 6. doi: 10.1111/os.12546

PMCID:: PMC7031589

Abstract Article PDF–1.6M

Select item 65280833.

Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

Eden Faye, Peggy Modaff, Richard Pauli, Janet Legare

Mol Syndromol. 2019 May; 10(3): 154–160. Published online 2018 Dec 21. doi: 10.1159/000495778

PMCID:: PMC6528083

Abstract Article PDF–821K

Select item 64184434.

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia

Stephanie L. Hines, John E. Richter, Jr, Ahmed N. Mohammad, Jain Mahim, Paldeep S. Atwal, Thomas R. Caulfield

Mol Genet Genomic Med. 2019 Mar; 7(3): e566. Published online 2019 Jan 28. doi: 10.1002/mgg3.566

PMCID:: PMC6418443

Abstract Article PDF–1.3M

Select item 57850835.

SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae

Tadeusz Bieganski, Peter Beighton, Maciej Lukaszewski, Krzysztof Bik, Lukasz Kuszel, Ewa Wasilewska, Kazimierz Kozlowski, Malwina Czarny-Ratajczak

Eur J Med Genet. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Eur J Med Genet. 2017 Oct; 60(10): 509–516. Published online 2017 Jul 4. doi: 10.1016/j.ejmg.2017.07.004

PMCID:: PMC5785083

Abstract Article PDF–1.1M

Select item 43719626.

L596–W733 bond between the start of the S4–S5 linker and the TRP box stabilizes the closed state of TRPV4 channel

Jinfeng Teng, Stephen H. Loukin, Andriy Anishkin, Ching Kung

Proc Natl Acad Sci U S A. 2015 Mar 17; 112(11): 3386–3391. Published online 2015 Mar 3. doi: 10.1073/pnas.1502366112

PMCID:: PMC4371962

Abstract Article PDF–1.2M

Select item 41085317.

Mice Expressing Mutant Trpv4 Recapitulate the Human TRPV4 Disorders

Michael M. Weinstein, Stuart W. Tompson, Yuqing Chen, Brendan Lee, Daniel H. Cohn

J Bone Miner Res. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: J Bone Miner Res. 2014 Aug; 29(8): 1815–1822. doi: 10.1002/jbmr.2220

PMCID:: PMC4108531

Abstract Article PDF–2.4M

Select item 35389788.

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation

Sang Sun Kang, Sung Hwa Shin, Chung-Kyoon Auh, Jaesun Chun

Exp Mol Med. 2012 Dec 17; 44(12): 707–722. Published online 2012 Nov 8. doi: 10.3858/emm.2012.44.12.080

PMCID:: PMC3538978

Abstract Article PDF–770K

Select item 31355019.

Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamandé, Ravi Savarirayan

Orphanet J Rare Dis. 2011; 6: 37. Published online 2011 Jun 9. doi: 10.1186/1750-1172-6-37

PMCID:: PMC3135501

Abstract Article PDF–1.4M

Select item 266797810.

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara L. Funari, Carlos A. Bacino, Mira B. Irons, Ingrid A. Holm, Laurie Sadler, Ericka B. Okenfuss, Annelies Janssens, Thomas Voets, David L. Rimoin, Ralph S. Lachman, Bernd Nilius, Daniel H. Cohn

Am J Hum Genet. 2009 Mar 13; 84(3): 307–315. doi: 10.1016/j.ajhg.2009.01.021