Zobrazeno 1 - 10
of 65
pro vyhledávání: '"boomerang dysplasia"'
Autor:
Udhaya Kumar S., Srivarshini Sankar, Salma Younes, Thirumal Kumar D., Muneera Naseer Ahmad, Sarah Samer Okashah, Balu Kamaraj, Abeer Mohammed Al-Subaie, George Priya Doss C., Hatem Zayed
Publikováno v:
Molecules, Vol 25, Iss 23, p 5543 (2020)
Filamins (FLN) are a family of actin-binding proteins involved in regulating the cytoskeleton and signaling phenomenon by developing a network with F-actin and FLN-binding partners. The FLN family comprises three conserved isoforms in mammals: FLNA,
Externí odkaz:
https://doaj.org/article/93fc2ad66485452382db11ef9eced360
Autor:
Thirumal Kumar D, George Priya Doss C, Srivarshini Sankar, S. Udhaya Kumar, Abeer M. Al-Subaie, Hatem Zayed, Balu Kamaraj, Muneera Naseer Ahmad, Salma Younes, Sarah Okashah
Publikováno v:
Molecules
Volume 25
Issue 23
Molecules, Vol 25, Iss 5543, p 5543 (2020)
Volume 25
Issue 23
Molecules, Vol 25, Iss 5543, p 5543 (2020)
Filamins (FLN) are a family of actin-binding proteins involved in regulating the cytoskeleton and signaling phenomenon by developing a network with F-actin and FLN-binding partners. The FLN family comprises three conserved isoforms in mammals: FLNA,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f17f3a76ff0afa90166164d8b8267712
https://doi.org/10.3390/molecules25235543
https://doi.org/10.3390/molecules25235543
Akademický článek
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Akademický článek
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Publikováno v:
Indian Journal of Child Health. 5:706-708
We present a male stillborn baby, born with disproportionate body and omphalocele. The infantogram revealed the absence of mineralization of all the bones, except for a minimal ossification of the ribs and spine. The possibilities that can be conside
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cf985ad10392c28b502140b31fa30e5
https://doi.org/10.32677/ijch.2018.v05.i11.014
https://doi.org/10.32677/ijch.2018.v05.i11.014
Publikováno v:
Pediatric radiology. 50(2)
Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited. The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386d6610305064681c866c1137905a5c
https://pubmed.ncbi.nlm.nih.gov/31776601
https://pubmed.ncbi.nlm.nih.gov/31776601
Autor:
Bernt Schulze, R. L. Schild, Jana Behunova, Katharina Schoner, Rainer Bald, Franco Laccone, Helga Rehder, Susanne Gerit Kircher, Juergen Neesen, Christiane Rapp
Publikováno v:
American Journal of Medical Genetics. Part a
The Piepkorn type of lethal osteochondrodysplasia (POCD) is a rare and lethal dwarfing condition. Four cases have been reported to date. The characteristic features are distinctly shortened "flipper-like" limbs, polysyndactyly, excessive underossific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cecbb91af6d9615711b4c2a579b431f0
https://pubmed.ncbi.nlm.nih.gov/29797497
https://pubmed.ncbi.nlm.nih.gov/29797497
Autor:
Shubha R. Phadke, Vinutha Bhat, Smrithi Salian, Sheela Nampoothiri, Sankar V. Hariharan, Katta M. Girisha, Shyamasunder N Bhat, Hitesh Shah, Anju Shukla, Rathika D. Shenoy
Publikováno v:
Clinical genetics. 94(1)
The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and II
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c19ed7f88218094c5cdd9d4d7b9d48
https://pubmed.ncbi.nlm.nih.gov/29566257
https://pubmed.ncbi.nlm.nih.gov/29566257
Publikováno v:
Journal of genetics and genomics = Yi chuan xue bao. 44(7)
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important rol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee909f2ba7e3c24b2fd6240d43804f5e
https://pubmed.ncbi.nlm.nih.gov/28739045
https://pubmed.ncbi.nlm.nih.gov/28739045
Autor:
Carlos A. Bacino, Valérie Cormier-Daire, Patrick Rump, Andrea Superti-Furga, Louise S. Bicknell, Joke B. G. M. Verheij, Deborah Krakow, Daniel H. Cohn, Joelle Roume, Clarisse Baumann, Martine Le Merrer, Ralph S. Lachman, Marc H. Firestein, Elizabeth Sweeney, David L. Rimoin, Claire Farrington-Rock, Stephen P. Robertson
Publikováno v:
Human Mutation, 27(7), 705-710. Wiley
The filamins are a family of cytoplasmic proteins that bind to and organize actin filaments, link membrane proteins to the cytoskeleton, and provide a scaffold for signaling molecules. Mutations in the gene encoding filamin B (FLNB) cause a spectrum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a545c1e032f7c4f8929e4554da80cd5
https://doi.org/10.1002/humu.20348
https://doi.org/10.1002/humu.20348