Zobrazeno 1 - 10
of 97
pro vyhledávání: '"C. Slusarski"'
Publikováno v:
Biomedicines, Vol 9, Iss 2, p 100 (2021)
Congenital eye defects represent a large class of disorders affecting roughly 21 million children worldwide. Microphthalmia and anophthalmia are relatively common congenital defects, with approximately 20% of human cases caused by mutations in SOX2.
Externí odkaz:
https://doaj.org/article/2bdc8246b1a74d83a7c62a159967b376
Autor:
Charles Anthony Scott, Autumn N Marsden, Michael R Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C Searby, Lisa M Baye, Val C Sheffield, Diane C Slusarski
Publikováno v:
PLoS Genetics, Vol 13, Iss 7, p e1006936 (2017)
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects.
Externí odkaz:
https://doaj.org/article/692b440b1fd54a39a9c8c1834edc81c2
Publikováno v:
Biomedicines, Vol 7, Iss 2, p 28 (2019)
Debilitating visual impairment caused by cataracts or microphthalmia is estimated to affect roughly 20 million people in the United States alone. According to the National Eye Institute, by 2050 that number is expected to more than double to roughly
Externí odkaz:
https://doaj.org/article/e6853369ef9d49e899c1f8ea53ebf79f
Publikováno v:
Disease Models & Mechanisms, Vol 6, Iss 3, Pp 679-688 (2013)
SUMMARY Epilepsy is a complex neurological disorder characterized by unprovoked seizures. The etiology is heterogeneous with both genetic and environmental causes. Genes that regulate neurotransmitters and ion channels in the central nervous system h
Externí odkaz:
https://doaj.org/article/e71788acd09642d89c8db1234f401c3b
Autor:
Xitiz Chamling, Seongjin Seo, Charles C Searby, Gunhee Kim, Diane C Slusarski, Val C Sheffield
Publikováno v:
PLoS Genetics, Vol 10, Iss 2, p e1004083 (2014)
Bardet-Biedl syndrome (BBS) is a well-known ciliopathy with mutations reported in 18 different genes. Most of the protein products of the BBS genes localize at or near the primary cilium and the centrosome. Near the centrosome, BBS proteins interact
Externí odkaz:
https://doaj.org/article/3080dc314c374c14b5ab0c642285397b
Autor:
Mallory J Ulferts, Meagan A Luse, Diane C. Slusarski, Budd A. Tucker, Autumn N. Marsden, Edwin M. Stone, Trudi A. Westfall, C. Anthony Scott, Cathryn M. Cranston, Katherine N. Gibson-Corley, Robert F. Mullins, Luke A Wiley, Ian C. Han, Erin R Burnight
Publikováno v:
Gene therapy. 29(5)
By combining next generation whole exome sequencing and induced pluripotent stem cell (iPSC) technology we found that an Alu repeat inserted in exon 9 of the MAK gene results in a loss of normal MAK transcript and development of human autosomal reces
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e0dfbd3c8f0f715e46180e32804863
https://pubmed.ncbi.nlm.nih.gov/34518651
https://pubmed.ncbi.nlm.nih.gov/34518651
Publikováno v:
Biomedicines
Volume 9
Issue 2
Biomedicines, Vol 9, Iss 100, p 100 (2021)
Volume 9
Issue 2
Biomedicines, Vol 9, Iss 100, p 100 (2021)
Congenital eye defects represent a large class of disorders affecting roughly 21 million children worldwide. Microphthalmia and anophthalmia are relatively common congenital defects, with approximately 20% of human cases caused by mutations in SOX2.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7530ca4c80eb894d3a62d69ee1d9989
Publikováno v:
Biomedicines
Congenital eye defects represent a large class of disorders affecting roughly 21 million children worldwide. Microphthalmia and anophthalmia are relatively common congenital defects, with approximately 20% of human cases caused by mutations in SOX2.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a51f78b202c4a377a59eb9ee5af3ad19
https://pubmed.ncbi.nlm.nih.gov/33494192
https://pubmed.ncbi.nlm.nih.gov/33494192
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e44096 (2012)
Axin is a critical component of the β-catenin destruction complex and is also necessary for Wnt signaling initiation at the level of co-receptor activation. Axin contains an RGS domain, which is similar to that of proteins that accelerate the GTPase
Externí odkaz:
https://doaj.org/article/6b62ac01444244f9948a761d17419135
Publikováno v:
Journal of Neurogenetics. 32:92-105
Epilepsy, which affects ∼1% of the population, is caused by abnormal synchronous neural activity in the central nervous system (CNS). While there is a significant genetic contribution to epilepsy, the underlying causes for the majority of genetic c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27d9ab6ec2885829415f961866e43b9f
https://doi.org/10.1080/01677063.2018.1445247
https://doi.org/10.1080/01677063.2018.1445247