Results 151 to 160 of about 71,310 (300)

The Role of Opioids on Motor Activity in Physio-pathological Conditions

, 2009
To date, four principal classes of opioid peptide receptors, μ (MOP), κ (KOP), δ (DOP) and ORL- 1 (NOP) have been identified and cloned. The experimental and clinical importance of this receptor family has been amply demonstrated in many diseases ...
Mabrouk, Omar Sharif
core  

Characterisation of DARPP-32 within the Human Basal Ganglia in Huntington’s and Parkinson’s Disease

, 2020
Full Text is available to authenticated members of The University of Auckland only.The basal ganglia are a set of subcortical nuclei that regulate motor, emotional and cognitive function. In the basal ganglia, the striatum is interconnected with the main
Thai, Star
core  

Eye‐Brain Neuroimmune Axis Enables Long‐Term Survival in Glioblastoma by Modulating Brain Immune Surveillance and Neuronal Excitability

Advanced Science, EarlyView.
The eye–brain neuroimmune axis triggers immune activation and disrupts pathological neuronal connectivity to extend glioblastoma survival. ABSTRACT As an anatomical extension of the central nervous system (CNS), the eye harbors rich neural and immune interfaces with the brain. However, the integrated immunological and neurological nexus between the eye
Mingyue Cui, Lulu Qian, Binbin Chu, Xuan Qin, Menglin Wu, Minke Wu, Tongyu He, Baochuan Zhang, Bin Song, Yao He   +9 more
wiley   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Long‐term prognosis is associated with residual disease after neoadjuvant systemic therapy but not with initial nodal status

BJS (British Journal of Surgery), EarlyView., 2020
This long‐term follow‐up study determined survival rates in a Swedish national cohort of 417 patients with breast cancer who all had neoadjuvant systemic therapy (NAST). Sentinel lymph node biopsy (SLNB) was performed before NAST in clinically node‐negative and after NAST in clinically node‐positive patients.
L. Zetterlund, F. Celebioglu, T. Hatschek, J. Frisell, J. de Boniface   +4 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Social cognition in basal ganglia pathologies: Theory of Mind in Huntington's and Parkinson's diseases

Theory of Mind (ToM) is the ability to predict the behaviour of others by inferring their cognitive and affective states. The literature suggests that different neural substrates within the basal ganglia are involved in the affective (ventral striatum ...
Calabresi, Paolo, Silveri, Maria Caterina, Di Tella, Sonia, Petracca, Martina, Lo Monaco, Maria Rita, Bentivoglio, Anna Rita, Solito, Marcella, Anzuino, Isabella, Tondinelli, Alice   +8 more
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source