Results 131 to 140 of about 80,852 (330)

Genome-wide homozygosity analysis in LGMD2.

, 2017
Genotypes obtained with the Affymetrix 250K SNPs chip were analyzed with the HomozygosityMapper software for the identification of large regions of homozygosity.
Antonio Miranda-Duarte (573571), Bladimir Roque-Ramirez (3684559), Juan C. Zenteno (783724), Carlos A. Pantoja-Melendez (3684562)   +3 more
core   +1 more source

Clonal analyses reveal associations of JAK2V617F homozygosity with hematologic features, age and gender in polycythemia vera and essential thrombocythemia [PDF]

, 2013
Subclones homozygous for JAK2V617F are more common and larger in patients with polycythemia vera compared to essential thrombocythemia, but their role in determining phenotype remains unclear.
Chen, Edwin, Campbell, Peter J., Green, Anthony R., Godfrey, A.L., Silber, Yvonne, Pagano, F., Silber, Y., Campbell, P.J., Chen, E., Pagano, Francesca, Godfrey, Anna L., Green, A.R.   +11 more
core   +1 more source

Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia

Advanced Science, EarlyView.
Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li, Ying Liu, Longsheng Xing, Xianliang Huang, Yingming Sun, Lei Yue, Yuze Zhang, Huilong Du, Bing Chen   +8 more
wiley   +1 more source

Runs of Homozygosity

, 2020
Realized inbreeding coefficients calculated from 3,954 SNPs using the RZooRoH model in three North American populations of sable antelope. Each bar represents an individual, displaying overall individual inbreeding coefficients (y-axis) and the ...
Rebecca Gooley (8365797)
core   +1 more source

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

PLoS Genetics, 2009
This research investigates the influence of demographic factors on human genetic sub-structure. In our discovery cohort, we show significant demographic trends for decreasing autozygosity associated with population variation in chronological age ...
Michael A Nalls, Javier Simon-Sanchez, J Raphael Gibbs, Coro Paisan-Ruiz, Jose Tomas Bras, Toshiko Tanaka, Mar Matarin, Sonja Scholz, Charles Weitz, Tamara B Harris, Luigi Ferrucci, John Hardy, Andrew B Singleton   +12 more
doaj   +1 more source

An evaluation of new and established methods to determine T‐DNA copy number and homozygosity in transgenic plants.

Plant, Cell and Environment, 2016
Stable transformation of plants is a powerful tool for hypothesis testing. A rapid and reliable evaluation method of the transgenic allele for copy number and homozygosity is vital in analysing these transformations. Here the suitability of Southern blot
K. Głowacka, J. Kromdijk, L. Leonelli, K. Niyogi, T. Clemente, S. Long   +5 more
semanticscholar   +1 more source

UCtracker: A Deep Learning–Based DNA Methylation Model for Noninvasive Diagnosis and Recurrence Surveillance of Urothelial Carcinoma in a Prospective Study

Advanced Science, EarlyView.
We developed UCtracker, a urine DNA methylation–based deep learning model, for noninvasive diagnosis and postoperative surveillance of urothelial carcinoma. UCtracker demonstrates high diagnostic accuracy, robustness at ultralow sequencing depth, early recurrence detection, and dynamic risk‐stratified monitoring of molecular residual disease ...
Shengwei Xiong, Gaojie Li, Yucai Wu, Yuan Liang, Heng Guo, Yu Zhang, Gengyan Xiong, Long Tian, Xin Zhang, Ye Tian, Zhengguo Ji, Bin Guo, Yue Shi, Jian Fan, Zhihua Li, Yanqing Gong, Shiming He, Xuesong Li, Weimin Ci, Liqun Zhou   +19 more
wiley   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

Herbicide Metabolic Resistance in Poaceae Plants via the GA‐GID1/DELLA‐DOF2‐P450s Module

Advanced Science, EarlyView.
Plant hormone signaling modulates herbicide resistance in Echinochloa crus‐galli. The GA–DELLA–DOF2 cascade directly activates P450 detoxification genes in two Poaceae species, uncovering a core mechanism of metabolic herbicide resistance. ABSTRACT Barnyard grass (Echinochloa crus‐galli) is one of the world's most important weeds, and the evolution of ...
Junzhi Wang, Jiale Qi, Lin Wei, Qin Yu, Zhongyuan Liu, Lianyang Bai, Lang Pan   +6 more
wiley   +1 more source

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

Journal of Alzheimer's Disease, 2016
Background: The major genetic risk factor for late onset Alzheimer’s disease (AD) is the APOE-ɛ4 allele. However, APOE-ɛ4 homozygosity is not fully penetrant, suggesting co-occurrence of additional genetic variants. Objective: To identify genetic factors
E. Louwersheimer, P. Cohn-Hokke, Y. Pijnenburg, M. Weiss, E. Sistermans, A. Rozemuller, M. Hulsman, J. V. van Swieten, C. V. van Duijn, F. Barkhof, T. Koene, P. Scheltens, W. M. van der Flier, H. Holstege   +13 more
semanticscholar   +1 more source