BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 28687525)

  • 1. 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; 60(10):509-516. PubMed ID: 28687525
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 47(10):704-9. PubMed ID: 20577006
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 6():37. PubMed ID: 21658220
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.
    Postma AV; Alders M; Sylva M; Bilardo CM; Pajkrt E; van Rijn RR; Schulte-Merker S; Bulk S; Stefanovic S; Ilgun A; Barnett P; Mannens MM; Moorman AF; Oostra RJ; van Maarle MC
    J Med Genet; 2014 Feb; 51(2):90-7. PubMed ID: 24253444
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 44(12):707-22. PubMed ID: 23143559
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
    Nishimura G; Dai J; Lausch E; Unger S; Megarbané A; Kitoh H; Kim OH; Cho TJ; Bedeschi F; Benedicenti F; Mendoza-Londono R; Silengo M; Schmidt-Rimpler M; Spranger J; Zabel B; Ikegawa S; Superti-Furga A
    Am J Med Genet A; 2010 Jun; 152A(6):1443-9. PubMed ID: 20503319
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 42(1):15-23. PubMed ID: 21863289
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.
    Hines SL; Richter JE; Mohammad AN; Mahim J; Atwal PS; Caulfield TR
    Mol Genet Genomic Med; 2019 Mar; 7(3):e566. PubMed ID: 30693671
    [TBL] [Abstract][Full Text] [Related]  

  • 10. TRPV4-associated skeletal dysplasias.
    Nishimura G; Lausch E; Savarirayan R; Shiba M; Spranger J; Zabel B; Ikegawa S; Superti-Furga A; Unger S
    Am J Med Genet C Semin Med Genet; 2012 Aug; 160C(3):190-204. PubMed ID: 22791502
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 155A(11):2860-4. PubMed ID: 21964829
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders.
    Weinstein MM; Tompson SW; Chen Y; Lee B; Cohn DH
    J Bone Miner Res; 2014 Aug; 29(8):1815-1822. PubMed ID: 24644033
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported].
    Cammarata-Scalisi F; Matysiak-Scholze U; Heinze J; Barrera A; Lacruz-Rengel MA; Bracho A; Guerrero Y
    Arch Argent Pediatr; 2015 Jan; 113(1):e10-3. PubMed ID: 25622169
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 12(1):333-336. PubMed ID: 31808622
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.
    Kitoh H; Lachman RS; Brodie SG; Mekikian PB; Rimoin DL; Wilcox WR
    Pediatr Radiol; 1998 Oct; 28(10):759-63. PubMed ID: 9799297
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 158A(4):795-802. PubMed ID: 22419508
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 170(12):3298-3302. PubMed ID: 27530454
    [TBL] [Abstract][Full Text] [Related]  

  • 18. An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia.
    Pazzaglia UE; Beluffi G; Zarattini G
    Pediatr Radiol; 2008 Jul; 38(7):783-7. PubMed ID: 18338162
    [TBL] [Abstract][Full Text] [Related]  

  • 19. PAPSS2 mutations cause autosomal recessive brachyolmia.
    Miyake N; Elcioglu NH; Iida A; Isguven P; Dai J; Murakami N; Takamura K; Cho TJ; Kim OH; Hasegawa T; Nagai T; Ohashi H; Nishimura G; Matsumoto N; Ikegawa S
    J Med Genet; 2012 Aug; 49(8):533-8. PubMed ID: 22791835
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.
    Bargiacchi S; Della Monica M; Biagiotti R; Andreucci E; Ciabattoni S; Poggi P; Di Maurizio M; Defilippi C; Cariati E; Giglio S
    Eur J Med Genet; 2017 Jul; 60(7):365-368. PubMed ID: 28414187
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.