Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Autosomal dominant brachyolmia"'
Autor:
Koray Boduroğlu, Gizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Goknur Haliloglu, Ibrahim Oncel, Gülen Eda Utine
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 32
TRPV4-related disorders constitute a broad spectrum of clinical phenotypes including several genetic skeletal and neuromuscular disorders, in which clinical variability and somewhat overlapping features are present. These disorders have previously be
Autor:
Satoshi Narumi, Eri Suzuki, Hiroyuki Shinohara, Yukihiro Hasegawa, Masaki Takagi, Mika Shimizu, Gen Nishimura, Tomonobu Hasegawa
Publikováno v:
American Journal of Medical Genetics Part A. 170:795-798
Autor:
Sillence David, Patricelli Maria G, Gardner RJ McKinlay, McGillivray George, Kerr Bronwyn, Kannu Peter, Hunter Warwick, Haan Eric, Alcausin Melanie, Aftimos Salim, Andreucci Elena, Thompson Elizabeth, Zacharin Margaret, Zankl Andreas, Lamandé Shireen R, Savarirayan Ravi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 37 (2011)
Abstract Background The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondy
Externí odkaz:
https://doaj.org/article/343d3cdf81154eb0af533b4567d4e3d5
Publikováno v:
Skeletal radiology. 46(9)
We report transient proximal and distal femoral metaphyseal striations that have not previously been described in autosomal dominant brachyolmia. The pelvis/hip radiograph of a 13-year-old boy demonstrated bilaterally symmetrical proximal femoral met
Publikováno v:
Journal of Bone and Mineral Research. 29:1815-1822
Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal dominant brachyolmia to lethal metatropic dysplasia. To develop an animal model of thes
Autor:
Barry Merriman, Alicia Vaglio, Vincent Funari, Thomas Voets, Bernd Nilius, Tara L. Funari, William R. Wilcox, Ralph S. Lachman, Roberto Quadrelli, Grzegorz Owsianik, Stanley F. Nelson, Jean Prenen, Daniel H. Cohn, David L. Rimoin, Soraya Reyno, Annelies Janssens, Matthew J. Rock, Toshiro Nagai, Shiro Ikegawa
Publikováno v:
Nature Genetics. 40:999-1003
The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature(1). Here, we identify a locus for an autosomal dominant form of brachyolmia on chromo
Autor:
Outi Mäkitie, Nina Jäntti, Stefan Geiberger, Lo Neumeyer, Giedre Grigelioniene, Eva Horemuzova, Eva Bengtsson Moström, Ann Nordgren, Eva Åström, Magnus Nordenskjöld
Publikováno v:
American journal of medical genetics. Part A. (7)
Autosomal dominant brachyolmia (Type 3, OMIM #113500) belongs to a group of skeletal dysplasias caused by mutations in the transient receptor potential cation channel, subfamily V, member 4 (TRPV4) gene, encoding a Ca++-permeable, non-selective catio
Publikováno v:
Pathologies of Calcium Channels ISBN: 9783642402814
Mutations in the transient receptor potential vanilloid 4 gene (TRPV4), encoding a widely expressed Ca2+-permeable ion channel, result in autosomal dominant diseases of peripheral nerve (Charcot-Marie-Tooth disease type 2C, congenital distal spinal m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd4120b734efe9b05b15bda2d8babb9e
https://doi.org/10.1007/978-3-642-40282-1_21
https://doi.org/10.1007/978-3-642-40282-1_21
Autor:
Shiro Ikegawa, Andrea Superti-Furga, Ekkehart Lausch, Bernhard Zabel, Gen Nishimura, Ravi Savarirayan, Masahiro Shiba, Sheila Unger, J. Spranger
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. (3)
Dominant mutations in the TRPV4 gene result in a bone dysplasia family and form a continuous phenotypic spectrum that includes, in decreasing severity, lethal, and nonlethal metatropic dysplasia (MD), spondylometaphyseal dysplasia Kozlowski type (SMD
Autor:
George McGillivray, Salim Aftimos, Shireen R. Lamandé, Margaret Zacharin, David Sillence, Melanie Alcausin, Maria Grazia Patricelli, R. J McKinlay Gardner, Elena Andreucci, Eric Haan, Elizabeth Thompson, Bronwyn Kerr, Warwick Hunter, Ravi Savarirayan, Andreas Zankl, Peter Kannu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 37 (2011)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondylometaphy