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Journal Abstract Search

309 related items for PubMed ID: 19232556

  • 1. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
    Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH.
    Am J Hum Genet; 2009 Mar; 84(3):307-15. PubMed ID: 19232556
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  • 2. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
    Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R.
    Orphanet J Rare Dis; 2011 Jun 09; 6():37. PubMed ID: 21658220
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  • 3. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
    Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.
    J Med Genet; 2010 Oct 09; 47(10):704-9. PubMed ID: 20577006
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  • 4. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).
    Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS.
    Pediatr Radiol; 2012 Jan 09; 42(1):15-23. PubMed ID: 21863289
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  • 7. Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.
    Weinstein MM, Kang T, Lachman RS, Bamshad M, Nickerson DA, Krakow D, Cohn DH.
    Am J Med Genet A; 2016 Dec 09; 170(12):3298-3302. PubMed ID: 27530454
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  • 8. Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
    Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A.
    Am J Med Genet A; 2011 Nov 09; 155A(11):2860-4. PubMed ID: 21964829
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  • 9. Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report.
    Tchio Tchoumba MA, Bai Y, Jin R, Yu X, Male M.
    Orthop Surg; 2020 Feb 09; 12(1):333-336. PubMed ID: 31808622
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  • 10. SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.
    Bieganski T, Beighton P, Lukaszewski M, Bik K, Kuszel L, Wasilewska E, Kozlowski K, Czarny-Ratajczak M.
    Eur J Med Genet; 2017 Oct 09; 60(10):509-516. PubMed ID: 28687525
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  • 15. Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.
    Kang SS, Shin SH, Auh CK, Chun J.
    Exp Mol Med; 2012 Dec 31; 44(12):707-22. PubMed ID: 23143559
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  • 16. Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.
    Ürel-Demir G, Şimşek-Kiper PÖ, Öncel İ, Utine GE, Haliloğlu G, Boduroğlu K.
    Eur J Paediatr Neurol; 2021 May 31; 32():46-55. PubMed ID: 33774370
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  • 17. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.
    Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S.
    Am J Med Genet A; 2012 Apr 31; 158A(4):795-802. PubMed ID: 22419508
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