Results 51 to 60 of about 15,770 (195)

Retinoschisin Facilitates the Function of L-Type Voltage-Gated Calcium Channels

Frontiers in Cellular Neuroscience, 2017
Modulation of ion channels by extracellular proteins plays critical roles in shaping synaptic plasticity. Retinoschisin (RS1) is an extracellular adhesive protein secreted from photoreceptors and bipolar cells, and it plays an important role during ...
Liheng Shi, Michael L. Ko, Gladys Y.-P. Ko, Gladys Y.-P. Ko   +3 more
doaj   +1 more source

Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients

Frontiers in Genetics, 2022
Purpose: X-linked juvenile retinoschisis (XLRS), caused by mutations in the RS1 gene, is an X-linked recessive inherited disease that typically involves both eyes in the first 2 decades of life. Recently, the phenotype heterogeneity of this condition has
Qingge Guo, Qingge Guo, Ya Li, Ya Li, Jiarui Li, Ya You, Ya You, Changgeng Liu, Changgeng Liu, Kang Chen, Kang Chen, Shuyin Li, Shuyin Li, Bo Lei, Bo Lei, Bo Lei   +15 more
doaj   +1 more source

FADS Gene Cluster Polymorphisms: Important Modulators of Fatty Acid Levels and Their Impact on Atopic Diseases [PDF]

, 2009
Long-chain polyunsaturated fatty acids (LC-PUFAs) play an important role in several physiological processes and their concentration in phospholipids has been associated with several complex diseases, such as atopic disease.
Heinrich, Joachim, Illig, Thomas, Koletzko, Berthold, Lattka, Eva   +3 more
core   +1 more source

The gene mutation in a Taiwanese family with X-linked retinoschisis

Kaohsiung Journal of Medical Sciences, 2015
X-linked retinoschisis (XLRS) is one of the leading causes of macular degeneration in male children. The purpose of this study is to describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the ...
Chin-Te Huang, Shee-Ping Chen, Rong-Kung Tsai   +2 more
doaj   +1 more source

Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-A

Stem Cell Research, 2022
X-linked juvenile retinoschisis (XLRS), caused by the mutation of RS1 gene, is one of the most common causes of macular degeneration for male adolescents. The mutations and clinical manifestations of the disease are diverse.
Linyan Zhang, Xinyu Liu, Mingwei Huang, Ping Xu, Yanting Lai, Yafen Liu, Xiufeng Zhong, Songshan Li, Xiaoyan Ding   +8 more
doaj   +1 more source

RNA interference knockdown of BRASSINOSTEROID INSENSITIVE1 in maize reveals novel functions for brassinosteroid signaling in controlling plant architecture [PDF]

, 2015
Brassinosteroids (BRs) are plant hormones involved in various growth and developmental processes. The BR signaling system is well established in Arabidopsis (Arabidopsis thaliana) and rice (Oryza sativa) but poorly understood in maize (Zea mays ...
Becraft, Philip W, Inzé, Dirk, Kir, Gokhan, Kusnandar, Andree S, Luo, Anding, Neelakandan, Anjanasree K, Nelissen, Hilde, Sylvester, Anne W, Ye, Huaxun, Yin, Yanhai   +9 more
core   +2 more sources

KOSAKONIA SP. PROTEOLYTIC BACTERIA ISOLATED FROM RUMEN AND RETICULUM OF ACEH CATTLE

Jurnal Kedokteran Hewan, 2020
The aim of this study was to identify proteolytic bacteria from the ruminal and reticulum fluids of aceh cattle based on the 16S rRNA gene. Samples used were ruminal and reticulum fluids of aceh cattle slaughtered in Abattoir of Aceh Besar. Samples were
Safika Safika, Wenny Novita Sari, Gressha Vionalle Ademi, Ulfi Widi Arsih, Darmawi Darmawi   +4 more
doaj   +1 more source

Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function. [PDF]

Hum Gene Ther, 2016
Bush RA, Zeng Y, Colosi P, Kjellstrom S, Hiriyanna S, Vijayasarathy C, Santos M, Li J, Wu Z, Sieving PA.   +9 more
europepmc   +2 more sources

A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers [PDF]

, 2017
Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach.
Alexandrov, L.B. (Ludmil), Birney, E. (Ewan), Borresen-Dale, A.-L. (Anne-Lise), Brinkman, A.B. (Arie B.), Campbell, P.J. (Peter), Davies, H. (Helen), Diez-Perez, J. (Javier), Easton, D.F. (Douglas), Evan, G. (Gerard), Glodzik, D. (Dominik), Kong, G. (Gu), Lakhani, S. (Sunil), Li, Y. (Yilong), Martens, J.W.M. (John), Morganella, S. (Sandro), Nik-Zainal, S. (Serena), Purdie, C.A. (Colin A.), Raine, (Keiran), Richardson, A.L. (Andrea), Russnes, H. (Hege), Rye, I.H. (Inga Hansine), Simpson, P.T. (Peter T.), Smid, M. (Marcel), Staaf, J. (Johan), Stratton, M.R. (Michael R.), Stunnenberg, H. (Henk), Thompson, A.M. (Alastair M.), Viari, A. (Alain), Vijver, M.J. (Marc ), Zou, X. (Xueqing)   +29 more
core   +1 more source

Allele-specific methylation and expression of an imprinted U2af1-rs1 (SP2) gene.

Nucleic acids research, 1995
The mouse U2af1-rs1(SP2) gene, which was cloned by a two-dimensional genome scanning method, is expressed exclusively from the paternally inherited chromosome. This gene has significant similarity to U2AF and located in chromosome 11, of which maternal duplication/paternal deficiency results in a small body.
I, Hatada, K, Kitagawa, T, Yamaoka, X, Wang, Y, Arai, K, Hashido, S, Ohishi, J, Masuda, J, Ogata, T, Mukai   +9 more
openaire   +2 more sources