Results 91 to 100 of about 31,920 (298)

Survivin as a therapeutic target in Sonic hedgehog-driven medulloblastoma. [PDF]

, 2015
Medulloblastoma (MB) is a highly malignant brain tumor that occurs primarily in children. Although surgery, radiation and high-dose chemotherapy have led to increased survival, many MB patients still die from their disease, and patients who survive ...
Berezov, A, Brun, SN, Conway, EM, Crawford, JR, Esparza, LA, Garcia, G, Grant, GA, Greene, MI, Huang, J-M, Levy, ML, Li, X-N, Markant, SL, Nakano, I, Pavlyukov, MS, Smith, LH, Terry, D, Wang, Q, Wechsler-Reya, RJ   +17 more
core   +2 more sources

Kinsenoside Targets IDH1 to Restore Microglial Immune‐Metabolic Homeostasis for Alzheimer's Disease Therapy

Advanced Science, EarlyView.
Dysregulated TCA cycle contributes to Alzheimer's disease (AD) pathogenesis. Here, we show that microglial isocitrate dehydrogenase 1 (IDH1) is a critical driver. Elevated IDH1 disrupts citrate metabolism and mitochondrial function, exacerbating AD pathology.
Qianqian Li, Yajin Liao, Yan‐bo Zhao, Hongxing Wu, Tong Jin, Shuoshuo Li, Yuhan Liu, Peng Li, Songying Ouyang, Zekai Li, YuTing Xia, Qian Hua, Rui‐Yuan Pan, Zengqiang Yuan   +13 more
wiley   +1 more source

Design, Control, and Clinical Applications of Magnetic Actuation Systems: Challenges and Opportunities

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
This review aims to provide a broad understanding for interdisciplinary researchers in engineering and clinical applications. It addresses the development and control of magnetic actuation systems (MASs) in clinical surgeries and their revolutionary effects in multiple clinical applications.
Yingxin Huo, Lidong Yang, Tiantian Xu, Dong Sun   +3 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

Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patients [PDF]

, 2003
Paraneoplastic cerebellar degeneration (PCD) is a heterogeneous group of disorders characterized by subacute cerebellar ataxia, specific tumour types and (often) associated antineuronal antibodies.
Bent, M.J. (Martin) van den, Grefkens, J., Holt, B. (Bronno) van der, Hooijkaas, H. (Herbert), Leeuw, B. de, Shams'ili, S. (Setareh), Sillevis Smitt, P.A.E. (Peter), Vecht, C.   +7 more
core  

L-2-hydroxyglutaric aciduria: A case report [PDF]

, 2014
Introduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disease with a slowly progressive course and characterized by increased levels of hydroxyglutaric acid in urine, cerebrospinal fluid and plasma.
Jović Nebojša J., Koprivšek Katarina, Kosać Ana   +2 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Recommendations for assessing cognitive risks in young children treated for ependymoma for clinical and research protocols: evidence from a systematic literature review [PDF]

, 2014
Background: Current treatment approaches for pediatric ependymoma differ between North American and European studies. Post-surgical adjuvant irradiation is used in children aged
Ablett, Kate L., Grundy, Richard G., Morrall, Matthew C.H.J., Pitchford, Nicola J., Stocks, Helen, Walker, David, Waters, Emma C.   +6 more
core   +2 more sources

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source