Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Ruth E. Swiderski"'
Publikováno v:
PLoS Genetics, Vol 10, Iss 10, p e1004689 (2014)
The phenotype of the spontaneous mutant mouse hop-sterile (hop) is characterized by a hopping gait, polydactyly, hydrocephalus, and male sterility. Previous analyses of the hop mouse revealed a deficiency of inner dynein arms in motile cilia and a la
Externí odkaz:
https://doaj.org/article/17697fd2e91945af994b80b7d3111e26
Autor:
Val C. Sheffield, Timothy W. Vogel, Kevin Bugge, Calvin S. Carter, Darryl Y. Nishimura, Daniel R. Thedens, Thomas O. Moninger, Kim M Keppler-Noreuil, Martin D. Cassell, Ruth E. Swiderski, Peggy Nopoulos, Seongjin Seo, Qihong Zhang, Charles Searby
Publikováno v:
Nature medicine
Hydrocephalus is a common neurological disorder that leads to expansion of the cerebral ventricles and is associated with a high rate of morbidity and mortality. Most neonatal cases are of unknown etiology and are likely to have complex inheritance i
Autor:
Veronica J. Vieland, Jonathon L. Haines, Thomas H. Wassink, Jian Huang, Val C. Sheffield, Joseph Piven, Ruth E. Swiderski, Gretel Beck, Susan E. Folstein, Terry A. Braun, Jennifer Pietila
Publikováno v:
American Journal of Medical Genetics. 105:406-413
We examined WNT2 as a candidate disease gene for autism for the following reasons. First, the WNT family of genes influences the development of numerous organs and systems, including the central nervous system. Second, WNT2 is located in the region o
Autor:
R. A. Sundstrom, Jeffrey R. Bishop, Bronya J.B. Keats, Khalil Elbedour, Val C. Sheffield, Ruth E. Swiderski, C. R. Srikumari Srisailapathy, Rivka Carmi, Richard J.H. Smith, Daryl A. Scott, Arabandi Ramesh, S. Drury
Publikováno v:
Gene. 246:265-274
The combined DFNB7–DFNB11 deafness locus maps to chromosome 9q13–q21 between markers D9S1806 and D9S769. We have determined the cDNA sequence and genomic structure of a novel gene, TMEM2 , that maps to this interval and is expressed in the cochle
Autor:
Charles S. Searby, Wallace L.M. Alward, Ruth E. Swiderski, Val C. Sheffield, Edwin M. Stone, Darryl Y. Nishimura, Rebecca S. Reiter, Jeffrey W. Kalenak, Jim J.-C. Lin
Publikováno v:
Developmental Dynamics. 216:16-27
The transcription factor FKHL7 gene has recently been associated with the ante- rior segment dysgenesis disorder of the eye known as Axenfeld-Rieger anomaly (ARA). A grow- ing body of evidence indicates that mutations in FKHL7 cause not only defects
Autor:
Ruth E. Swiderski, Rivka Carmi, David Duhl, Susan W. Gorman, Neena B. Haider, Juliet W. Welch, Charles Searby, Uta Grieshammer, Song Leng, Esther A. Kim, Val C. Sheffield
Publikováno v:
Genomics. 59:150-160
Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number o
Autor:
Adam B. Kanis, Ruth E. Swiderski, Darryl Y. Nishimura, Shivanand R. Patil, Val C. Sheffield, Steven R. Bennet, Julie M. Gastier, Wallace L.M. Alward, Charles Searby, Edwin M. Stone
Publikováno v:
Nature Genetics. 19:140-147
A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to human chromosome 6p25. These disorders have been postulated to be either allelic to each other or associated with a clus
Autor:
Terry Yin, Ruth E. Swiderski, Kevin Bugge, Darryl Y. Nishimura, Jianqiang Shao, Timothy W. Vogel, Gunhee Kim, Charles Searby, Qihong Zhang, Val C. Sheffield, Edwin M. Stone, Calvin S. Carter
Bardet-Biedl Syndrome (BBS) is a pleiotropic and genetically heterozygous disorder caused independently by numerous genes (BBS1-BBS17). Seven highly conserved BBS proteins (BBS1, 2, 4, 5, 7, 8, and 9) form a complex known as the BBSome, which functio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9de37f1d5c3f383fa6070ce7664c970
https://europepmc.org/articles/PMC3679484/
https://europepmc.org/articles/PMC3679484/
Autor:
Charles Yeaman, Kevin Bugge, Khristofor Agassandian, Martin D. Cassell, Ruth E. Swiderski, Jean L. Ross
Publikováno v:
Fluids and Barriers of the CNS, Vol 9, Iss 1, p 22 (2012)
Fluids and Barriers of the CNS
Fluids and Barriers of the CNS
Background Hydrocephalus is a heterogeneous disorder with multiple etiologies that are not yet fully understood. Animal models have implicated dysfunctional cilia of the ependyma and choroid plexus in the development of the disorder. In this report,
Autor:
Michael Solursh, Ruth E. Swiderski
Publikováno v:
Development. 115:169-179
Using RNA blot analysis of developmentally staged avian limb buds, we demonstrate that transcripts of several cartilage marker genes appear in limb tissue prior to overt chondrogenesis. Type II collagen mRNA, cartilage proteoglycan core protein mRNA,