Results 121 to 130 of about 80,852 (330)

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Investigative Ophthalmology and Visual Science, 2017
Purpose The Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Lin Li, Ya-Bin Chen, Xiao-Dong Jiao, C. Jin, Dan Jiang, Mukesh Tanwar, Zhi-Wei Ma, Li Huang, Xiaoyin Ma, Wenmin Sun, Jianjun Chen, Yan Ma, O. M'hamdi, Gowthaman Govindarajan, Patricia E. Cabrera, Jiali Li, Nikhil Gupta, M. Naeem, Shaheen N. Khan, S. Riazuddin, J. Akram, R. Ayyagari, P. Sieving, S. Riazuddin, J. Hejtmancik   +24 more
semanticscholar   +1 more source

Thymosin Alpha‐1 Provides Direct Neuroprotection by Engaging the Orexin Receptor HCRTR1 to Suppress Neuronal Necroptosis

Advanced Science, EarlyView.
In this study, we unveil a thymus‐brain endocrine axis wherein Tα1 engages HCRTR1 to inhibit RIPK3‐mediated necroptosis. This study nominates the Tal‐HCRTR1‐RIPK3 axis as a potent and clinically translatable therapeutic target for stroke and neurodegeneration.
Xinmei Kang, Shisi Wang, Liubin Zhang, Mengyan Hu, Xiaotao Su, Yuxin Liu, Qin Qin, Haotong Yi, Liling Yuan, Wei Cai, Lei Wei, Zhengqi Lu   +11 more
wiley   +1 more source

Homozygosity disequilibrium associated with treatment response and its methylation regulation

BMC Proceedings, 2018
Homozygosity disequilibrium (HD), indicating a nonrandom pattern of sizable runs of homozygosity that deviates from a random allocation of homozygous and heterozygous genotypes in the genome, is an important phenomenon in population genomics and medical ...
Hsin-Chou Yang, Chia-Wei Chen
doaj   +1 more source

Narrowing the Position of the Werner Syndrome Locus by Homozygosity Analysis—Extension of Homozygosity Analysis

Genomics, 1996
Werner syndrome (WS) is an autosomal recessive disorder characterized by the premature occurrence of many age-related features. Previously, the WS gene (WRN) was mapped between D8S131 and D8S87, in an 8.3-cM interval. In this study, regions of homozygosity in 36 WS patients from inbred families were searched for by genotyping for 35 dinucleotide repeat
J, Nakura, T, Miki, L, Ye, N, Mitsuda, Y, Zhao, K, Kihara, C E, Yu, J, Oshima, K I, Fukuchi, E M, Wijsman, G D, Schellenberg, G M, Martin, S i, Murano, K, Hashimoto, Y, Fujiwara, T, Ogihara   +15 more
openaire   +2 more sources

Astrocytic LMP2 Coordinates NF‐κB and TGF‐β1/Smad3 Signaling to Drive Neuroinflammation after Cerebral Ischemia/Reperfusion

Advanced Science, EarlyView.
ABSTRACT Astrocyte reactivity critically shapes neuroinflammatory outcomes after ischemic stroke, yet the upstream regulators governing astrocyte state transitions remain incompletely defined. Here, we identify the immunoproteasome subunit low molecular weight protein 2 (LMP2) as an important modulator of astrocyte functional remodeling following ...
Yanguang Mao, Rulan Ma, Zejing Lin, Huiying Zhao, Yuexian Liu, Yonghe Su, Xu Zhang, Xingyong Chen   +7 more
wiley   +1 more source

Investigation of homozygosity and the number of sex alleles and its effect on productivity of colonies in 18th generation of Iranian honeybee (Apis mellifera meda) breeding plan [PDF]

نامه انجمن حشره‌شناسی ایران
The genetic mechanism of sex determination in honeybees has created limitations in breeding systems. In selective breeding populations, the possibility of increasing the homozygosity of sex alleles and producing diploid drones is higher.
Heidar Zahedi, Rahimeh Sepehri, Gholamhosein Tahmasbi   +2 more
doaj   +1 more source

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

Genetics in Medicine, 2018
One of the greatest challenges currently facing those studying Mendelian disease is identifying the pathogenic variant from the long list produced by a next-generation sequencing test.
M. Wakeling, T. Laver, C. Wright, E. De Franco, K. Stals, A. Patch, A. Hattersley, S. Flanagan, S. Ellard   +8 more
semanticscholar   +1 more source

RNAi in the Rhizarian Phytopathogen Plasmodiophora brassicae: The Causal Agent of Clubroot Disease in Cruciferous Crops

Advanced Science, EarlyView.
This study uncovers an unusual RNAi pathway in the rhizarian pathogen Plasmodiophora brassicae. In the absence of Dicer, a Drosha‐like RNase III protein supports the biogenesis of predominant 21‐nt small RNAs, and two Argonaute proteins mediate small RNA‐guided silencing.
Xiong Zhang, Yupo Wu, Jiachang Hou, Lixia Gao, Longqi Pan, Cuicui Shen, Chuanji Zhao, Feng Gao, Yi Zhang, Li Ren, Xiaoping Fang, Xiaoling Dun, Shengyi Liu, Lijiang Liu   +13 more
wiley   +1 more source

Genomic Patterns of Homozygosity in Worldwide Human Populations [PDF]

, 2012
Genome-wide patterns of homozygosity runs and their variation across individuals provide a valuable and often untapped resource for studying human genetic diversity and evolutionary history.
Myers, Richard M., Pemberton, Trevor J., Rosenberg, Noah A., Li, Jun Z., Absher, Devin, Feldman, Marcus W.   +5 more
core   +1 more source

NSD2 Coordinates the Neurogenic‐to‐Gliogenic Transition via H3K36me2‐Dependent Activation of the EGFR‐ERK Pathway

Advanced Science, EarlyView.
NSD2 coordinates the neurogenic‐to‐gliogenic transition in the developing neocortex through H3K36me2‐dependent activation of EGFR–ERK signaling. Loss of NSD2 disrupts astroglial and oligodendroglial development, whereas ERK activation rescues gliogenic defects in vitro and in vivo.
Hanxue Chen, Mengyuan Li, Lin Hou, Bin Yin, Boqin Qiang, Ran Gao, Pengcheng Shu, Xiaozhong Peng   +7 more
wiley   +1 more source