Results 111 to 120 of about 66,200 (304)

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. M. van Duijn, F. Barkhof, T. Koene, P. Scheltens, W. M. van der Flier, H. Holstege   +13 more
semanticscholar   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
wiley   +1 more source

Runs of homozygosity and inbreeding in thyroid cancer

BMC Cancer, 2016
Genome-wide association studies (GWASs) have identified several single-nucleotide polymorphisms (SNPs) influencing the risk of thyroid cancer (TC). Most cancer predisposition genes identified through GWASs function in a co-dominant manner, and studies ...
H. Thomsen, Bowang Chen, G. Figlioli, R. Elisei, C. Romei, M. Cipollini, A. Cristaudo, F. Bambi, P. Hoffmann, S. Herms, S. Landi, K. Hemminki, F. Gemignani, A. Försti   +13 more
semanticscholar   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Adipocyte‐Derived Leptolin Enhances Energy Expenditure and Prevents Obesity

Advanced Science, EarlyView.
We identified a novel adipokine, which we named leptolin. In humans, leptolin levels in white adipose tissue were positively correlated with exercise and negatively associated with body mass index. We observed elevated leptolin in serum from athletes and lower leptolin in serum from obese individuals.
Jiarui Liu, Bingwei Wang, Zhijie Su, Xiaoxv Han, Miao He, Yun Zhao, Yujia Hou, Daotong Li, Weiguang Zhang, Lihua Qin, Ke Wang, Yanchun Li, Yi Yan, Siwang Yu, Xiaoshuai Huang, Tairan Yuwen, Jianyuan Luo, Ruimao Zheng   +17 more
wiley   +1 more source

Redox‐Dependent Chaperoning of GBF1 Condensates Regulates Seed Germination in Arabidopsis

Advanced Science, EarlyView.
In dormant seeds (low ROS), GBF1 forms liquid condensates to repress the germination gene CathB3, and the chaperone GIP1 maintains condensate liquidity and repressive activity. Upon imbibition (high ROS), ROS oxidize GIP1 during germination, impairing its chaperone function.
Yunying Wang, Xiaofeng Fang
wiley   +1 more source

Auto‐Downregulation of the Florigen FT Production Prevents Precocious Flowering in Plants

Advanced Science, EarlyView.
This study shows that the leaf vein‐expressed FD complexes with the florigen FT to bind DNA motifs in FT promoter, which antagonizes CONSTANS‐mediated FT activation to feedback down‐regulate FT expression. This prevents an excessive induction of FT expression by inductive photoperiods, thereby precluding precocious transition to flowering in ...
Shu Tian, Xiao Luo, Bowen Cui, Yuehui He
wiley   +1 more source

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

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

A Non‐Canonical Core Transcriptional Regulatory Circuit Orchestrates Chromatin Reprogramming to Drive Osimertinib Resistance in Non‐Small Cell Lung Cancer

Advanced Science, EarlyView.
A non‐canonical core transcriptional regulatory circuit, composed of ID3, SMAD3, and NR2F2, drives Osimertinib resistance in non‐small cell lung cancer through super‐enhancer‐mediated activation of EPAS1, which couples neuroendocrine differentiation with ferroptosis evasion.
Aochu Liu, Zhenguo Liu, Lizhen Jiang, Andong Huang, Xinqing Lin, Xinyue Li, Bingyuan Liu, Shiwen Hu, Qiang Pan, Junjun Huang, Liyuan Yin, Liling Jiang, Wei Yi, Wenjun Mao, Yueyuan Zheng, Xianping Shi   +15 more
wiley   +1 more source