Results 91 to 100 of about 39,998 (271)

Wedelolactone, a Novel TLR2 Agonist, Promotes Neutrophil Differentiation and Ameliorates Neutropenia: A Multi‐Omics Approach to Unravel the Mechanism

Advanced Science, EarlyView.
Wedelolactone (WED), a natural TLR2 agonist, promotes neutrophil differentiation and enhances bactericidal function, offering a potential therapeutic strategy for neutropenia. Using a multi‐omics approach, this study reveals that WED activates the TLR2/MEK/ERK pathway, upregulating key transcription factors (PU.1, CEBPβ) to drive neutrophil development.
Long Wang, Zhichao Li, Tianci Hu, Qinyao Li, Linwei Zhang, Xinyue Mei, Xiao Qi, Sheng Liu, Weijie Kong, Jiesi Luo, Anguo Wu, Feihong Huang, Sirui Li, Shuang Dai, Chunxiang Zhang, Rong Li, Jianming Wu   +16 more
wiley   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Connexin 26 Functions as a Direct Transcriptional Regulator During the Cochlea Development

Advanced Science, EarlyView.
Connexin26 can not only form intercellular channels that mediate rapid communication on the cell membrane, but also enter the nucleus as a transcription factor to directly regulate the transcription of nuclear genes. In the developing cochlea, Cx26 can control the maturation of the molecular scissor ADAM10 by regulating the transcription of TspanC8 ...
Xiaozhou Liu, Le Xie, Yuan Jin, Sen Chen, Xinyu Shi, Yanjun Zong, Zhengdong Zhao, Wei‐Jia Kong, Yu Sun   +8 more
wiley   +1 more source

Shprintzen-Goldberg syndrome

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability.
Elayne Esther Santana Hernández
doaj  

New zebrafish models of neurodegeneration [PDF]

, 2015
In modern biomedicine, the increasing need to develop experimental models to further our understanding of disease conditions and delineate innovative treatments has found in the zebrafish (Danio rerio) an experimental model, and indeed a valuable asset ...
A Nasevicius, A Vaccaro, AE Schaffer, AJ Rennekamp, AM Stewart, B Schmid, Claire Russell, DI Shah, EM Caramillo, F Ivanes, F Mahmood, HQ Jiang, JB Phillips, JW Mink, K Wager, K Wager, KC Donnell, KL Cerveny, L Wang, M Bond, M Nguyen, Michelangelo Campanella, MK Lin, PR Kasher, Rebeca Martín-Jiménez, S Ajroud-Driss, TO Auer, VT Cunliffe, Y Namavar   +28 more
core   +2 more sources

Gut–Metabolome–Proteome Interactions in Age‐Related Hearing Loss: Insights from Fecal Microbiota Transplantation and Multi‐Omics Analyses

Advanced Science, EarlyView.
Germ‐free (GF) mice receiving fecal microbiota transplantation (FMT) reveal microbiota‐dependent effects on auditory aging. Integrated metagenomic, metabolomic and proteomic profiling maps gut–inner ear network and highlights 5‐hydroxytryptophan (5‐HTP) as a microbiota‐linked metabolic hub in age‐related hearing loss (ARHL).
Ting Yang, Ziwen Gao, Hui Huang, Chanyuan Zhang, Yiquan Tang, Qianhui Qu, Huabin Li, Jing Ke, Zhiji Chen, Menglong Feng, Hu Zhou, Yilai Shu, Wei Yuan   +12 more
wiley   +1 more source

Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea [PDF]

Diabetes & Metabolism Journal
Maternally inherited diabetes and deafness (MIDD) is a rare mitochondrial disorder primarily resulting from m.3243A>G mutation. The clinical characteristics of MIDD exhibit significant heterogeneity.
Eun Hoo Rho, Sang Ik Baek, Heerah Lee, Moon-Woo Seong, Jong-Hee Chae, Kyong Soo Park, Soo Heon Kwak   +6 more
doaj   +1 more source

Rise and fall of Achille de Giovanni\u2019s clinical anthropometry [PDF]

, 2018
Achille de Giovanni (1838-1916), Italian clinician and pathologist, developed a constitutional method for clinical investigations based on the morphology of the human body.
Zampieri, Fabio
core  

Physiopathological Implications of 7TM Receptors [PDF]

, 2010
Seven-transmembrane (7TM) receptors are one of the most important proteins involved in perception of extracellular stimuli and regulation of variety of intracellular signaling pathways.
Cygankiewicz, Adam
core   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source