Results 231 to 240 of about 717,864 (344)

A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome [PDF]

, 2016
et al,, Grange, Dorothy K
core   +1 more source

Mutations in Insulin-Receptor Gene: Val996 Allele in White NIDDM Patients

Diabetes Care, 1992
PORCELLINI, ANTONIO, COCOZZA, SERGIO, A. Monticelli, L. Pianese, RICCARDI, GABRIELE, A. Ferrara, S. Varrone   +6 more
openaire   +4 more sources

Hepatic ENTPD5 Is Critical for Maintaining Metabolic Homeostasis and Promoting Brown Adipose Tissue Thermogenesis

Advanced Science, EarlyView.
ENTPD5‐mediated conversion of extracellular adenosine triphosphate to ADP of hepatocytes is critical for maintaining hepatic glucose/lipid metabolism and promoting brown adipose tissue thermogenesis via the inhibition of adrenomedullin expression and secretion.
Rufeng Ma, Song Hou, Rui Xiang, Wenjun Liu, Xin Li, Yujing Chi, Ming Xu, Haochen Yao, Jing Li, Jichun Yang   +9 more
wiley   +1 more source

Genome-wide association study of somatic GATA1s mutations in newborns with Down syndrome. [PDF]

Blood Adv
Li Y, Elliott N, Lein P, Vyas P, Roberts I, de Smith AJ.   +5 more
europepmc   +1 more source

HIFU‐Driven Targeted Pyroptosis Therapy in Basal‐Like Breast Cancer

Advanced Science, EarlyView.
This study presents a HIFU‐driven pyroptosis strategy for BLBC treatment. Combining HIFU with platelet‐membrane hybridized liposomes encapsulating mitoxantrone enhances tumor targeting and efficacy. The synergistic treatment modulates key epigenetic regulators and activates the pyroptotic pathway through ROS generation and inflammasome signaling ...
Xiaomin Su, Yang Wang, Xifeng Qin, Yaqiong Xiao, Boshu Ouyang, Lina Hu, Lin Kang, Ruizhe Xu, Ce Xu, Zanya Sun, Chenyu Sun, Huishu Guo, Zhiqing Pang, Shun Shen   +13 more
wiley   +1 more source

Genetic variation landscape of sheep GDF9 gene from global ewes breeds and their association with gestation days. [PDF]

BMC Genomics
Liu P, Pan Y, Wang X, Cao C, Li R, Pan C, Zhang Q, Lan X.   +7 more
europepmc   +1 more source

A Modular and Customizable CRISPR/Cas Toolkit for Epigenome Editing of Cis‐regulatory Modules

Advanced Science, EarlyView.
Epigenome editing surpasses genome editing in gene regulation. Modular epigenome editing frameworks are developed to interrogate cis‐regulome, enabling tunable reprogramming of cis‐elements, uncovering their epigenetic responsiveness and cross‐species portability.
Lingrui Zhang, Jianxin Fu, Tiandan Long, Chao Zhang, Fuhua Fan, Zhaobo Lang, Jian‐Kang Zhu   +6 more
wiley   +1 more source

"Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report". [PDF]

Tremor Other Hyperkinet Mov (N Y)
Sánchez-Román EJ, Villa-Villegas L, Leal-Ortega R, Lira-Jaime LG, Rivas-Ruvalcaba F, Díaz-Ramírez K, Piña-Avilés CE, Mercado-Pimentel R, Zúñiga-Ramírez C.   +8 more
europepmc   +1 more source

Structural and Functional Versatility of the Amyloidogenic Non‐Amidated Variant of the Antimicrobial Peptide Citropin 1.3

Advanced Science, EarlyView.
Citropin 1.3 is an antimicrobial peptide derived from amphibians that forms amyloid structures. Here, the structural and functional properties of citropin 1.3 are characterized. Using high‐resolution imaging approaches, a variety of canonical and undescribed fibril morphologies are identified.
Fabio Strati, Mariana Pigozzi Cali, Yehudi Bloch, Siavash Mostafavi, Jim Monistrol, Aleksandr Golubev, Bader Rayan, Emil Gustavsson, Meytal Landau   +8 more
wiley   +1 more source

Identification and characterization of the gene OvANS associated with purple flower in Orychophragmus violaceus. [PDF]

BMC Plant Biol
Liu Y, Wang C, Chen H, Shen W, Chen L, Tan C, Chen D.   +6 more
europepmc   +1 more source