Results 81 to 90 of about 255,701 (284)

Genome‐Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes

Advanced Science, EarlyView.
This study explores genome‐wide by lifetime environment interactions on brain imaging phenotypes. Gene‐environment interactions explain more phenotypic variance than main effects, pinpoint regulatory variants, and reveal exposure‐specific biological pathways.
Sijia Wang, Meiyun Wang, Peng Zhang, Jingliang Cheng, Longjiang Zhang, Wenzhen Zhu, Shijun Qiu, Zuojun Geng, Guangbin Cui, Yongqiang Yu, Weihua Liao, Xi‐Nian Zuo, Hui Zhang, Bo Gao, Xiaojun Xu, Tong Han, Zhenwei Yao, Quan Zhang, Feng Liu, Qiang Xu, Jiayuan Xu, Jilian Fu, Nana Liu, Yuan Ji, Jie Tang, Lining Guo, Mengge Liu, Xiaoxiao Xiao, Xiaoxuan Liu, Wei Li, Caihong Wang, Wei Wei, Dapeng Shi, Su Lui, Zhihan Yan, Feng Chen, Jing Zhang, Wen Shen, Yanwei Miao, Dawei Wang, Jia‐Hong Gao, Yunjun Yang, Kai Xu, Junfang Xian, Bing Zhang, Xiaochu Zhang, Zhaoxiang Ye, Le Yu, Wen Qin, Meng Liang, Chunshui Yu, the CHIMGEN Consortium   +51 more
wiley   +1 more source

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

TBK1 Induces the Formation of Optineurin Filaments That Condensate with Polyubiquitin and LC3 for Cargo Sequestration

Advanced Science, EarlyView.
Phosphorylation of Optineurin by TBK1 induces the formation of filaments that condensate upon binding to linear polyubiquitin. Membrane‐anchored LC3 partitions into these condensates, suggesting that phase separation of filamentous Optineurin with ubiquitylated cargo promotes the sequestration of cargo and its subsequent alignment with LC3‐positive ...
Maria G. Herrera, Lena Kühn, Lisa Jungbluth, Verian Bader, Laura J. Krause, David Kartte, Elias Adriaenssens, Sascha Martens, Jörg Tatzelt, Carsten Sachse, Konstanze F. Winklhofer   +10 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

The prognostic value of TP53 mutations in hypopharyngeal squamous cell carcinoma

BMC Cancer, 2017
Background TP53 is the most frequently mutated gene in human cancers. Previous studies reported that TP53 mutations correlated with poor prognoses in patients with head and neck squamous cell carcinoma (HNSCC).
Go Omura, Mizuo Ando, Yasuhiro Ebihara, Yuki Saito, Kenya Kobayashi, Osamu Fukuoka, Ken Akashi, Masafumi Yoshida, Takahiro Asakage, Tatsuya Yamasoba   +9 more
doaj   +1 more source

XIAP Stabilizes DDRGK1 to Promote ER‐Phagy and Protects Against Noise‐Induced Hearing Loss

Advanced Science, EarlyView.
Mechanism of GAS‐mediated protection against noise‐induced hearing loss (NIHL). Noise exposure activates the ATF4/eIF2α axis, downregulating XIAP and promoting DDRGK1 degradation, thereby inhibiting ER‐phagy and leading to hair cell (HC) death. GAS treatment rescues XIAP and DDRGK1 expression, reactivating ER‐phagy to mitigate HC loss, synaptic damage,
Lin Yan, Yuhua Zhang, Jiawei Du, Yongjun Zhu, Wei Cao, Yongjie Wei, Han Wu, Shiyu Qiu, Shiyi Pan, Lian Chen, Pingping Liang, Renjie Chai, Jianming Yang, Qiaojun Fang   +13 more
wiley   +1 more source

Identification of 22 novel mutations in patients with Glanzmann's thrombasthenia [PDF]

, 2008
Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited platelet function defect that characterized by reduction in, or absence of, platelet aggregation in response to multiple physiologic agonists. GT is characterized by normal platelet
Abdul Ethayathulla, Birendra Yadav, Firdos Ahmad, Meganathan Kannan, Rajive Kumar, Renu Saxena, Ved Choudhry   +6 more
core   +1 more source

Adenomatoid tumors of the male and female genital tract are defined by TRAF7 mutations that drive aberrant NF-kB pathway activation. [PDF]

, 2018
Adenomatoid tumors are the most common neoplasm of the epididymis, and histologically similar adenomatoid tumors also commonly arise in the uterus and fallopian tube.
Bastian, Boris C, Garg, Karuna, Goode, Benjamin, Grenert, James P, Joseph, Nancy M, Onodera, Courtney, Phillips, Joanna J, Rabban, Joseph T, Solomon, David A, Stevers, Meredith, Talevich, Eric, Van Ziffle, Jessica, Yeh, Iwei, Zaloudek, Charles   +13 more
core   +1 more source

Aberrant SUMOylation Restricts the Targetable Cancer Immunopeptidome

Advanced Science, EarlyView.
Pharmacological SUMOylation inhibition (SUMOi) counteracts tumor immune evasion by unmasking an immunogenic HLA‐I peptide and neoepitope repertoire. By restoring HLA‐I ligand availability through increased antigen processing and presentation, enhanced proteasomal cleavage, and modulated TAP1 peptide affinity, SUMOi boosts tumor immunogenicity ...
Uta M. Demel, Anna Meurer, Badeel Kh. Q. Zaghla, Bilge Atay, Daniel Steiert, Luca V. Hummel, Konstandina Isaakidis, Chuanbing Zang, Michael Korenkov, Marlon Schielin, Schayan Yousefian, Shima Mecklenbräuker, Marieluise Kirchner, Simon Haas, Antonia Busse, Philipp Mertins, Stefan Müller, Matthias Wirth, Martin G. Klatt, Ulrich Keller   +19 more
wiley   +1 more source

MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA

Pakistan Armed Forces Medical Journal, 2018
Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study.
Muhammad Nawaz, Nasrullah Khan, Agha Muhammad Raza, Nisar Ahmed, Jamil Ahmad   +4 more
doaj