Results 211 to 220 of about 546,048 (293)

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Accelerated long‐term forgetting in children with neurofibromatosis type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate the presence of accelerated long‐term forgetting after a 7‐day delay in children with neurofibromatosis type 1 (NF1), using an adapted verbal memory recall task, Experimental Word Recall Task (EWRT), and to examine its relationship with other cognitive abilities.
Jessica Habib, Melanie Porter, Jonathan M Payne, Shelley Arnold, Kristina M Haebich, Dinberu Shebeshi, Suncica Lah, Michael Gascoigne, Natalie A Pride   +8 more
wiley   +1 more source

Amylin Receptor Signalling in the Laterodorsal Tegmental Nucleus Controls Food Intake Through Projections to the Ventral Tegmental Area

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background The role of amylin signalling in energy balance control has been understudied in calcitonin receptor (CTR) expressing nuclei such as the mesopontine laterodorsal tegmental nucleus (LDTg). Our lab has shown that LDTg amylin signalling reduces feeding and body weight, but the neuronal phenotype and downstream targets of LDTgCTR cells ...
Marcos J. Sanchez Navarro, Carlie Zhang, Samantha M. Fortin, Matthew R. Hayes   +3 more
wiley   +1 more source

Chemogenetic control of GABAergic neurons within the interpeduncular nucleus reveals dissociable behavioral components of the nicotine withdrawal phenotype. [PDF]

Neurobiol Dis
Miguelez Fernández AMM, Netherton S, Niladhuri SB, Brown AC, Rivera P, Tseng KY, Peters CJ.   +6 more
europepmc   +1 more source

Energetic dysregulations in psychotic disorders: Targets for new therapeutics

The FEBS Journal, EarlyView.
The present review synthesizes literature documenting aberrant energy production and use, specifically related to mitochondrial and redox dysregulation, in psychotic disorders. Findings from different levels of investigation—genetic, cellular, and in vivo imaging—converge on aberrant energy metabolism as a hallmark of psychotic disorders.
Jacey Anderson, Kai‐Christian Sonntag, Thao Do Vy Le, Kaitlin Shannon, Chao Wang, Fei Du, Xi Chen, Donna McPhie, Dost Ongur, Bruce Cohen, Virginie‐Anne Chouinard   +10 more
wiley   +1 more source

Dorsal raphe nucleus MC4R-GABAergic neurons regulate feeding and anxiety. [PDF]

Mol Metab
Yamagata S, Copperi F, White GT, Kim JD, Diano S.   +4 more
europepmc   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

BMAL1 in Anterior Cingulate Cortex Pyramidal Neurons Relieves Pulpitis‐Induced Nocturnal Pain

International Endodontic Journal, EarlyView.
ABSTRACT Aim Nocturnal exacerbation of pulpitis‐induced pain severely disrupts patients' sleep and quality of life, increasing emergency dental care burden. However, the exact mechanisms underlying nocturnal pain remain poorly understood, limiting the development of targeted analgesic strategies.
Yuting Bai, Jialin Si, Jing Zhang, Zhuo Yu, Meng Nian, Yundi Qiao, Xiaoke Wu, Jing Huang, Li‐an Wu   +8 more
wiley   +1 more source

Differentiation Defect Into GABAergic Neurons in Cerebral Organoids From Autism Patients. [PDF]

CNS Neurosci Ther
Hali S, Yao X, Hao G, Jin ZL, Fu K, Li Y, Wang L, Yoo H, La H, Park C, Hong K, Shin CY, Woo DH, Han C, Jin X, Zhu S, Zou W, Kim NH, Kim KP, Zhang LW, Han DW.   +20 more
europepmc   +1 more source