Results 51 to 60 of about 1,071,201 (269)

Saliva Sample‐Based Non‐Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang

Molecular Genetics & Genomic Medicine
Background Although spinal muscular atrophy (SMA), hereditary hearing loss (HL), and thalassemia are common monogenic genetic diseases, the carrier frequencies and variant spectrums of these diseases show regional differences, even within China.
Chenyang Xu, Yanbao Xiang, Xiaoling Lin, Qifan Ma, Yunzhi Xu, Huanzheng Li, Shaohua Tang, Xueqin Xu   +7 more
doaj   +1 more source

The Future of Pediatric Hematology‐Oncology Fellowship Training: Reflections on the American Board of Pediatrics Training Model

Pediatric Blood &Cancer, EarlyView.
Scott C. Borinstein, Scott Moerdler, Alexander A. Boucher, Stacy L. Cooper, Rachel A Egler, Erika Friehling, Richard Ho, Catherine McGuinn, Kathryn S. Sutton, Stacey G. Zahler, Leslie Kersun, Jennifer Kesselheim   +11 more
wiley   +1 more source

Septin 9 PB domains coordinate centrosome positioning and microtubule acetylation to control epithelial polarity

FEBS Letters, EarlyView.
Septin 9 polybasic domains couple phosphoinositide‐rich membrane binding to centrosome positioning, Golgi organization, and microtubule acetylation to control epithelial polarity. Their loss disrupts this axis, causing centrosome mispositioning, Golgi fragmentation, reduced microtubule acetylation, and polarity inversion via upregulation of the ...
Ting ting Cai, Mohyeddine Omrane, Nassima Benzoubir, Didier Samuel, Ama Gassama‐Diagne   +4 more
wiley   +1 more source

Superstructured Macroporous Carbon Rods Composed of Defective Graphitic Nanosheets for Efficient Oxygen Reduction Reaction

Advanced Science, 2021
Rationally designed carbon materials with superstructures are promising candidates in applications such as electrocatalysis. However, the synthesis of highly porous carbon superstructures with macropores and carbon defects from a simple crystalline solid
Jing Wang, Yining Yao, Chaoqi Zhang, Qiang Sun, Dan Cheng, Xiaodan Huang, Jiayou Feng, Jingjing Wan, Jin Zou, Chao Liu, Chengzhong Yu   +10 more
doaj   +1 more source

Rab14 regulates the transport of human papillomavirus to the trans‐Golgi network for infectious cell entry

FEBS Letters, EarlyView.
This study reveals that the small GTPase Rab14 is necessary for human papillomavirus (HPV) infection and plays an essential role in the transport of virions to the trans‐Golgi network (TGN). HPV in the early endosome (EE), which harbors GTP‐bound Rab14, is transported to the TGN through the switch of Rab14 from its GTP‐bound to GDP‐bound form.
Yoshiyuki Ishii, Iwao Kukimoto
wiley   +1 more source

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

Molecular Genetics & Genomic Medicine
Background TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, developmental delay ...
Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo   +8 more
doaj   +1 more source

Assessment of demographic and perinatal predictors of non-response and impact of non-response on measures of association in a population-based case control study: findings from the Georgia Study to Explore Early Development

Emerging Themes in Epidemiology, 2018
Background Participation in epidemiologic studies has declined, raising concerns about selection bias. While estimates derived from epidemiologic studies have been shown to be robust under a wide range of scenarios, additional empiric study is needed ...
Laura A. Schieve, Shericka Harris, Matthew J. Maenner, Aimee Alexander, Nicole F. Dowling   +4 more
doaj   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source

Screening potential antileukemia ingredients from sweet potato: integration of metabolomics analysis, network pharmacology, and experimental validation

Frontiers in Nutrition
BackgroundActive dietary flavonoids are a promising resource for novel drug discovery. Sweet potato, a widely cultivated functional crop, is abundant in flavonoids.
Lianling Xu, Lianling Xu, Kaixuan Zeng, Kaixuan Zeng, Zuoyue Duan, Zuoyue Duan, Jing Liu, Yan Zeng, Miao Zhang, You Yang, Qulian Guo, Yanling Jin, Wenjun Liu, Ling Guo   +13 more
doaj   +1 more source

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source