Results 111 to 120 of about 1,216,010 (297)

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Blood cell traits and venous thromboembolism in East Asians: Observational and genetic evidence

iScience
Summary: Previous studies have indicated that various blood cell traits are associated with a higher risk of venous thromboembolism (VTE). However, the causal relationship remains uncertain.
Haobo Li, Mengjie Duo, Zhu Zhang, Haoyi Weng, Dong Liu, Yu Zhang, Linfeng Xi, Bingzhang Zou, Huiwen Li, Gang Chen, Xianbo Zuo, Kaoru Ito, Wanmu Xie, Peiran Yang, Chen Wang, Zhenguo Zhai   +15 more
doaj   +1 more source

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers. [PDF]

Cureus, 2023
Kumari K, Saleh I, Taslim S, Ahmad S, Hussain I, Munir Z, Javed T, Virk MFI, Javed S, Bisharat P, Ur Rehman U.   +10 more
europepmc   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Circulating biomarkers of kidney angiomyolipoma and cysts in tuberous sclerosis complex patients

iScience
Summary: Patients with tuberous sclerosis complex (TSC) develop multi-organ disease manifestations, with kidney angiomyolipomas (AML) and cysts being one of the most common and deadly.
Varvara I. Rubtsova, Yujin Chun, Joohwan Kim, Cuauhtemoc B. Ramirez, Sunhee Jung, Wonsuk Choi, Miranda E. Kelly, Miranda L. Lopez, Elizabeth Cassidy, Gabrielle Rushing, Dean J. Aguiar, Wei Ling Lau, Rebecca S. Ahdoot, Moyra Smith, Aimee L. Edinger, Sang-Guk Lee, Cholsoon Jang, Gina Lee   +17 more
doaj   +1 more source

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache. [PDF]

Appl Clin Genet, 2023
Sánchez-Espino LF, Ivars M, Antoñanzas J, Baselga E.   +3 more
europepmc   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice

iScience
Summary: Recognizing individuals with Genetic tumor syndromes (GTS) in the primary central nervous system (CNS) tumors is crucial for optimizing proper genetic counseling and improving therapeutics and clinical care.
Chuanwei Wang, Jian Chen, Yanzhao Wang, Ningning Luo, Tiantian Han, Xiangyu Yin, Yunjie Song, Dongsheng Chen, Jie Gong   +8 more
doaj   +1 more source

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. [PDF]

Am J Ophthalmol, 2023
Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M.   +11 more
europepmc   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source