Results 141 to 150 of about 114,005 (286)

Dissociating role of Bassoon in glutamatergic and dopaminergic neurons in alcohol‐related behaviour and affective state in mice

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Alcohol abuse and affective disorders are severe comorbid psychiatric diseases characterized by impaired brain synaptic transmission. The role of presynaptic scaffolding proteins coordinating presynaptic plasticity and neurotransmitter release, such as Bassoon (Bsn), in the pathogenesis of these disorders remains elusive.
Liubov S. Kalinichenko, Mona Krenbauer, Janosh Isert, Marlon Kamlah, Thorben Tanzer, Hannes Rödel, Tobias Müller, Anil Annamneedi, Enes Yağız Akdaş, Volker Eulenburg, Bernd Lenz, Eckart D. Gundelfinger, Johannes Kornhuber, Anna Fejtova, Christian P. Müller   +14 more
wiley   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

BT CORN AND INSECT RESISTANCE: AN ECONOMIC ASSESSMENT OF REFUGES [PDF]

Genetically engineered crops offer farmers a new option for controlling pests. The high efficacy of these pesticidal crops, combined with the potential for widespread adoption, has raised concerns that pest resistance may prematurely diminish their value.
Babcock, Bruce A., Hellmich, Richard L., Hurley, Terrance M.   +2 more
core   +1 more source

Longitudinal Analysis of Sleep‐Disordered Breathing and Cognitive Outcomes in Children Living With Sickle Cell Anaemia

Clinical Otolaryngology, EarlyView.
ABSTRACT Objectives Sleep‐disordered breathing (SDB) and cognitive challenges are commonly observed in children living with sickle cell anaemia (SCA). This study investigated the longitudinal change in polysomnographic outcomes and the association with cognitive functions in children living with SCA.
Shifa Hamdule, Melanie Koelbel, Johanna C. Gavlak, Sati Sahota, Fenella J. Kirkham, Anna M. Hood   +5 more
wiley   +1 more source

SOX30 Governs Synaptonemal Complex Assembly and Homologous Recombination in Male Meiosis

Cell Proliferation, EarlyView.
The transcription factor SOX30 directly binds promoter regions of SYCE1 and SYCE2 to mediate their transcriptional activation, thereby enabling proper assembly of central elements within the synaptonemal complex. Structural destabilisation of the synaptonemal complex in Sox30 KK spermatocytes triggers synaptic discontinuity, impairs homologous ...
Kangle Liu, Wenfeng Zhang, Xiao Jiang, Jianping Chen, Lei Zhu, Zhonghao Zhang, Jing Gu, Lulu Guo, Lin Ao, Qing Chen, Lei Sun, Yuhan Hu, Xin Wang, Yaxin Liu, Jia Cao, Fei Han, Jinyi Liu   +16 more
wiley   +1 more source

Whole Blood Transcriptomic Analysis of Sickle Cell Trait

European Journal of Haematology, EarlyView.
ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson, Yanwei Cai, Ana Gabriela Vasconcelos, Peter Orchard, Paul L. Auer, Guillaume Lettre, Jia Wen, Nora Franceschini, Charles Kooperberg, Wei Sun, Li Hsu, Laura M. Raffield, Alex P. Reiner   +12 more
wiley   +1 more source

Genetic Insights on Hypertriglyceridaemia-Induced Acute Pancreatitis in Pregnancy: A Case Series and Literature Review. [PDF]

Case Rep Endocrinol
Nguyen CS, Adams N, Gianatti E, Lee IL, Kevat D.   +4 more
europepmc   +1 more source

Colour Polymorphism in Coconut Crabs Is Under Relaxed Selection From Conspecifics?

Ethology, EarlyView.
Coconut crabs are either red or blue irrespective of age or sex, are nocturnal and have very few predators. This experimental study shows that they do not use conspecific's colour but do use relative size to settle competitive interactions over food in the wild.
Tim Caro
wiley   +1 more source