Results 71 to 80 of about 34,414 (193)

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Comparisons in temperature and photoperiodic-dependent diapause induction between domestic and wild mulberry silkworms

Scientific Reports, 2021
The bivoltine strain of the domestic silkworm, Bombyx mori, has two generations per year. It shows a facultative diapause phenotype determined by environmental conditions, including photoperiod and temperature, and nutrient conditions during embryonic ...
Takeshi Yokoyama, Shigeru Saito, Misato Shimoda, Masakazu Kobayashi, Yoko Takasu, Hideki Sezutsu, Yoshiomi Kato, Makoto Tominaga, Akira Mizoguchi, Kunihiro Shiomi   +9 more
doaj   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis

Biomedicines
Background Hereditary spherocytosis (HS) is an erythrocytic membranopathy that belongs to a group of rare genetic disorders. Mutations in five genes, including ANK1, cause clinical manifestations of the disease.
Dżamila M. Bogusławska, Justyna Rybka, Paulina Koszela, Kazimierz Kuliczkowski, Aleksander F. Sikorski   +4 more
doaj   +1 more source

Proteomic signatures of equine dental tooth tissues in ageing and disease

Equine Veterinary Journal, EarlyView.
Abstract Background Ageing and dental disease in horses lead to structural and functional deterioration of dental tissues, yet their molecular signatures remain poorly characterised. Understanding how these processes alter the protein composition of enamel, dentin, cementum and pulp is essential for improving equine oral health and identifying ...
Anders Jensen, Danae Emilie Zambouli, Iris Gringel, Zoe Nugent, Kazuhiro Yamamoto, Lee Cooper, Andrew J. Peffers, Guido Rocchigiani, Mandy J. Peffers   +8 more
wiley   +1 more source

Defining new insight into atypical arrhythmia: a computational model of ankyrin-B syndrome

American Journal of Physiology-Heart and Circulatory Physiology, 2010
Normal cardiac excitability depends on the coordinated activity of specific ion channels and transporters within specialized domains at the plasma membrane and sarcoplasmic reticulum. Ion channel dysfunction due to congenital or acquired defects has been linked to human cardiac arrhythmia. More recently, defects in ion channel-associated proteins have
Roseanne M, Wolf, Colleen C, Mitchell, Matthew D, Christensen, Peter J, Mohler, Thomas J, Hund   +4 more
openaire   +3 more sources

Bile acid metabolism and signaling in human and animal health: A One Health perspective

iMetaOmics, EarlyView.
Bile acids maintain host homeostasis through enterohepatic circulation, microbial transformation, and bile acid receptor signaling, thereby regulating glucose and lipid metabolism, intestinal barrier integrity, and immunity. These effects support human disease intervention and health‐oriented animal production, reducing drug dependence and residue ...
Lei Li, Shuai Liu, Zhijun Cao, Yangchun Cao, Shengru Wu, Lu Deng, Junhu Yao, Jun Zhang   +7 more
wiley   +1 more source

473 Application of human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) for modeling of Ankyrin-2 p.R990Q variant-induced ventricular arrhythmia and personalized medicine

Journal of Clinical and Translational Science
OBJECTIVES/GOALS: The cytoskeletal protein α²II spectrin interacts with actin and ankyrin-2 in cardiomyocytes which is essential to orchestrate ion channels and membrane proteins in the cardiac dyad.
Jyotsna Joshi, Neill Schwieterman, Nate Smole, Shuliang Guo, Xiaoping Wan, Angelina Ramirez-Navarro, Cemantha Lane, Isabelle Deschenes, Thomas Hund, Loren Wold, Sakima Smith   +10 more
doaj   +1 more source

YGL9, encoding the putative chloroplast signal recognition particle 43 kDa protein in rice, is involved in chloroplast development

Journal of Integrative Agriculture, 2016
The nuclear-encoded light-harvesting chlorophyll a/b-binding proteins (LHCPs) are specifically translocated from the stroma into the thylakoid membrane through the chloroplast signal recognition particle (cpSRP) pathway.
Zhong-wei WANG, Tian-quan ZHANG, Ya-di XING, Xiao-qin ZENG, Ling WANG, Zhong-xian LIU, Jun-qiong SHI, Xiao-yan ZHU, Ling MA, Yun-feng LI, Ying-hua LING, Xian-chun SANG, Guang-hua HE   +12 more
doaj   +1 more source

The Effects of Angiotensin Receptor Neprilysin Inhibitor on Endoplasmic Reticulum Stress in Doxorubicin‐Mediated Cardiomyopathy‐Associated Heart Failure Model in Rats

Journal of Applied Toxicology, EarlyView.
ABSTRACT One of the most serious complications associated with the use of the chemotherapeutic agent doxorubicin (DOX) is cardiomyopathy. Although cardioprotective drugs such as angiotensin receptor‐neprilysin inhibitors (ARNI) are used to prevent cardiomyopathy in DOX patients, no studies have reported the relationship between ARNI and endoplasmic ...
Mert Unvan, Meryem İlkay Karagül, Hatice Oruç Demirbağ, Ebru Balli   +3 more
wiley   +1 more source