Results 81 to 90 of about 98,067 (307)

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization [PDF]

, 1993
A patient with acute nonlymphocytic leukemia (ANLL), M5b according to French-American-British (FAB) classification, showed monosomy 16, an extra 1p−, and a 21q+. These derivative chromosomes could not be defined by GTG-banding.
Anna Jauch, Brothman, Burke, Christoph Lengauer, Collins, Cooke, Cremer, Cremer, Jauch, Klever, Lengauer, Lengauer, Lengauer, Lichter, Lichter, Marosi, Masafumi Taniwaki, Michael R. Speicher, Moyzis, Pinkel, Pinkel, Rowley, Selleri, Smit, Speleman, Susanne Popp, Thomas Cremer   +26 more
core   +1 more source

Comparative assessment of artificial intelligence chatbots' performance in responding to healthcare professionals' and caregivers' questions about Dravet syndrome

Epilepsia Open, EarlyView.
Abstract Objective Artificial intelligence chatbots have been a game changer in healthcare, providing immediate, round‐the‐clock assistance. However, their accuracy across specific medical domains remains under‐evaluated. Dravet syndrome remains one of the most challenging epileptic encephalopathies, with new data continuously emerging in the ...
Joana Jesus‐Ribeiro, Eugenia Roza, Bárbara Oliveiros, Joana Barbosa Melo, Mar Carreño   +4 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

CILTACABTAGENE AUTOLEUCEL VS STANDARD OF CARE IN LENALIDOMIDE-REFRACTORY MULTIPLE MYELOMA: PHASE 3 CARTITUDE-4 SUBGROUP ANALYSIS BY CYTOGENETIC RISK

Hematology, Transfusion and Cell Therapy
Background: The prognosis for patients (pts) with multiple myeloma (MM) who have high-risk (HR) cytogenetics is poor. In the phase 3 CARTITUDE-4 trial, ciltacabtagene autoleucel (cilta-cel) vs standard of care (SOC) significantly improved progression ...
R Mina, B Dhakal, J San-Miguel, N Lendvai, M Vogel, K Li, D Chen, N Patel, H Einsele, J Martinez-Lopez   +9 more
doaj   +1 more source

SUMOylation regulates tumorigenesis and progression: Molecular mechanisms and therapeutic applications

Interdisciplinary Medicine, EarlyView.
SUMOylation, a dynamic post‐translational modification, acts as a master regulator at the heart of tumor malignancy. Our work delineates how the SUMOylation cycle—mediated by E1/E2/E3 enzymes and reversed by SENPs—orchestrates multiple hallmarks of cancer. The central pathway converges on three critical pathological axes: 1.
Yimao Wu, Zichang Chen, Yinting Hu, Gokhan Zengin, Qian Zhang, Meng‐Yao Li, Wenlong Sun   +6 more
wiley   +1 more source

Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: association with cytogenetics and clinical features

Haematologica, 2013
In childhood B-cell precursor acute lymphoblastic leukemia, cytogenetics is important in diagnosis and as an indicator of response to therapy, thus playing a key role in risk stratification of patients for treatment.
Claire J. Schwab, Lucy Chilton, Heather Morrison, Lisa Jones, Halima Al-Shehhi, Amy Erhorn, Lisa J. Russell, Anthony V. Moorman, Christine J. Harrison   +8 more
doaj   +1 more source

Isolated Pleural Effusion as Presentation of a Large B‐Cell Lymphoma: A Case Report and Diagnostic Considerations

Journal of Clinical Laboratory Analysis, EarlyView.
A 79‐year‐old man presented with massive pleural effusion in which cytological examination revealed lymphoma cells without evidence of a solid tumor mass. Negative EBV in situ hybridization and negative HHV8 and HIV testing, combined with flow cytometric immunophenotyping and molecular findings, supported a diagnosis of fluid overload–associated large ...
Van Vlierberghe Magalie, Dewaide Rosina, Michaux Lucienne, Develter Wim, Van Aelst Sophie, Claerhout Helena   +5 more
wiley   +1 more source

FLT3 Length Mutations as Marker for Follow-Up Studies in Acute Myeloid Leukaemia [PDF]

, 2004
Length mutations within the FLT3 gene (FLT3-LM) can be found in 23% of acute myeloid leukaemia (AML) and thus are the most frequent mutations in AML. FLT3-LM are highly correlated with AML with normal karyotype and other cytogenetic aberrations of the ...
Haferlach, Torsten, Hiddemann, Wolfgang, Kern, Wolfgang, Schnittger, Susanne, Schoch, Claudia   +4 more
core   +1 more source

Myeloid sarcoma presenting as an isolated pancreatic mass in a 3‐year‐old child

JPGN Reports, EarlyView.
Abstract Myeloid sarcoma (MS) is an extramedullary tumor of myeloid precursor cells, frequently associated with acute myeloid leukemia (AML), and rarely occurring in isolation. We present a child with obstructive jaundice secondary to a pancreatic head mass.
Jappmann Kaur Monga, Cara L. Mack, Michelle Saad, Dylan Applin, Maisam Abu‐El‐Haija, David Vitale, Zachary Graff, Gila Ginzburg   +7 more
wiley   +1 more source