Results 151 to 160 of about 287,119 (261)

Neonatal cholestasis is associated with cytochrome P450 1A2 detoxification defect: A single center pilot study. [PDF]

World J Clin Pediatr
Kotb MA, Wilson MM, Shafik AN, Ahmed NA, Fahim VF, Lotfi NA, Eissawy YM.   +6 more
europepmc   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Pulmonary Exposure to Copper Oxide Nanoparticles Induces Systemic Inflammation, Oxidative Stress, and Prothrombotic Responses in BALB/c Mice. [PDF]

Int J Nanomedicine
Ferdous Z, Beegam S, Zaaba NE, Elzaki O, Greish YE, Nemmar A.   +5 more
europepmc   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

NDUFA4 Deletion Upregulates VDAC1 to Promote Mitochondrial Damage, Endoplasmic Reticulum Expansion, and Neuronal Apoptosis. [PDF]

Hum Mutat
Li L, Fu F, Li R, Zhou H, Huang R, Lu J, Guo F, Chen H, Lei T, Han J, Zhen L, Pan M, Li D, Liao C.   +13 more
europepmc   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Directional Second Sphere Effect on CO2 Activation and Reduction by Iron Porphyrin in Aprotic and Protic Media

Angewandte Chemie, EarlyView.
Directional control within the secondary coordination sphere redefines CO2 reduction by iron porphyrins. Simply rearranging identical urea hydrogen‐bond donors modulates reactivity, revealing that optimal catalysis does not only arise from maximal intermediate stabilization, but also from directional, adaptive non‐covalent interactions that balance ...
Ashutosh Vishwakarma, Sami Essid, Sarah Bouery, Régis Guillot, Bernard Boitrel, Philipp Gotico, Marie Sircoglou, Zakaria Halime   +7 more
wiley   +2 more sources

Discovery of the protective effect of glutamine on acute alcoholic liver injury.

Indian J Pharmacol
Yang H, Guo W, Li SQ, Zhang BB, Wang D, Cheng WG, Chen S.   +6 more
europepmc   +1 more source

Curcumin protects high glucose-induced diabetic myocardial injury by regulating Nrf2 and PI3K/AKT pathways. [PDF]

Front Pharmacol
Xu Z, Qu Z, Wu X.
europepmc   +1 more source

Sappanwood extract modulates hepatic structure–function in hepatomegaly and hepcidin related iron regulatory pathways in a phenylhydrazine induced hemolytic anemia rat model relevant to thalassemia

Animal Models and Experimental Medicine, EarlyView.
Phenylhydrazine (PHZ) induces hemolytic anemia characterized by increased erythrocyte destruction and ineffective erythropoiesis, leading to hepcidin suppression through disruption of the BMP/SMAD signaling pathway. Reduced hepcidin levels enhance intestinal iron absorption and hepatic iron accumulation, leading to hepatic iron overload.
Mohammad Indra Pratama, Ratu Safitri, Desak Made Malini, Mas Rizky A. A. Syamsunarno, Mohammad Ghozali, Madihah Madihah   +5 more
wiley   +1 more source