Results 71 to 80 of about 15,770 (195)

AVPR1a and SLC6A4 Gene Polymorphisms Are Associated with Creative Dance Performance. [PDF]

PLoS Genetics, 2005
Dancing, which is integrally related to music, likely has its origins close to the birth of Homo sapiens, and throughout our history, dancing has been universally practiced in all societies. We hypothesized that there are differences among individuals in
Rachel Bachner-Melman, Christian Dina, Ada H Zohar, Naama Constantini, Elad Lerer, Sarah Hoch, Sara Sella, Lubov Nemanov, Inga Gritsenko, Pesach Lichtenberg, Roni Granot, Richard P Ebstein   +11 more
doaj   +2 more sources

Structural analysis of X-Linked Retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function [PDF]

, 2016
Retinoschisin, an octameric retinal-specific protein, is essential for retinal architecture with mutations causing X-linked retinoschisis (XLRS), a monogenic form of macular degeneration.
Alan M. Roseman, Bush, C. Alistair Siebert, Clair Baldock, Ewan P. Ramsay, Gleghorn, Kucukelbir, Rawson, Reid, Richard F. Collins, Richard P.O. Jones, Tao Wang, Thomas W. Owens   +12 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Clinical manifestation and genetic analysis in Chinese early onset X‐linked retinoschisis

Molecular Genetics & Genomic Medicine, 2020
Background X‐linked retinoschisis (XLRS) is one type of retinal dystrophy leading to the schisis of the neural retina and causing reduced visual acuity.
Li Huang, Limei Sun, Zhirong Wang, Chonglin Chen, Panfeng Wang, Wenmin Sun, Xiaoling Luo, Xiaoyan Ding   +7 more
doaj   +1 more source

Earthquake and Tsunami NaTech Risk Assessment for Oil Storage Facilities

Earthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT Interaction of natural and technological hazards (NaTech) events, such as tsunamis and earthquakes, can affect industrial facilities such as those featuring anchored atmospheric storage tanks. Consequences of natural events on this kind of installation may include the release of hazardous substances, which in turn can lead to industrial ...
Georgios Baltzopoulos, Pasquale Cito, Federica Ricci, Manuela Volpe, Jacopo Selva, Valerio Cozzani, Iunio Iervolino   +6 more
wiley   +1 more source

An osmolarity dependent mechanism partially ameliorates retinal cysts and rescues cone function in a mouse model of X-linked retinoschisis

Frontiers in Medicine
IntroductionX-linked retinoschisis (XLRS) is a vitreoretinal dystrophy caused by RS1 gene mutations which disrupt retinoschisin-1 (RS1) function. Vital for retinal architecture, the absence of functional RS1 leads to the development of intraretinal cysts.
Ella J. Gehrke, Jacob Thompson, Jacob Thompson, Emily Kalmanek, Sarah T. Stanley, Joseph Laird, Sajag Bhattarai, Brianna Lobeck, Sara Mayer, Sara Mayer, Angela Mahoney, Salma Hassan, Salma Hassan, Salma Hassan, Ying Hsu, Arlene Drack, Arlene Drack, Arlene Drack, Arlene Drack, Arlene Drack   +19 more
doaj   +1 more source

Axial length, myopia progression, and myopic maculopathy in Stickler syndrome

Acta Ophthalmologica, EarlyView.
Abstract Purpose We lack knowledge on the potentially progressive nature of and the prevalence of complications to myopia as a characteristic trait of Stickler syndrome. Methods This cross‐sectional study combines ophthalmic examination and medical record data on Danish patients with genetically confirmed Stickler syndrome type 1 (COL2A1) and type 2 ...
Kirstine B. Boysen, Mette Bertelsen, Nanna D. Rendtorff, Stense Farholt, Line Kessel   +4 more
wiley   +1 more source

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity? [PDF]

PLoS ONE, 2018
X-linked retinoschisis (XLRS) is a retinal degenerative disorder caused by mutations in RS1 gene leading to splitting of retinal layers (schisis) which impairs visual signal processing.
Dhandayuthapani Sudha, Srividya Neriyanuri, Ramya Sachidanandam, Srikrupa N Natarajan, Mamatha Gandra, Arokiasamy Tharigopala, Muthukumaran Sivashanmugam, Mohammed Alameen, Umashankar Vetrivel, Lingam Gopal, Vikas Khetan, Rajiv Raman, Parveen Sen, Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam   +14 more
doaj   +1 more source

Suprachoroidal and Subretinal Injections of AAV Using Transscleral Microneedles for Retinal Gene Delivery in Nonhuman Primates. [PDF]

, 2020
Retinal gene therapy using adeno-associated viruses (AAVs) is constrained by the mode of viral vector delivery. Intravitreal AAV injections are impeded by the internal limiting membrane barrier, while subretinal injections require invasive surgery and ...
Chung, Sook Hyun, Mollhoff, Iris N, Nguyen, Uyen Tu, Noronha, Glenn, Taraborelli, Donna, Thomasy, Sara M, Yiu, Glenn, Yoo, Jesse   +7 more
core  

Lipid-free Antigen B subunits from echinococcus granulosus: oligomerization, ligand binding, and membrane interaction properties [PDF]

, 2015
Background: The hydatid disease parasite Echinococcus granulosus has a restricted lipid metabolism, and needs to harvest essential lipids from the host.
Córsico, Betina, Ferreira, Ana M., Franchini, Gisela R., Kennedy, Malcolm W., Pórfido, Jorge L., Silva-Álvarez, Valeria   +5 more
core   +5 more sources