Results 151 to 160 of about 142,271 (283)

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

Genomic and Immune Correlates of EZH2 Expression and Activity in Olfactory Neuroblastoma

Head &Neck, EarlyView.
ABSTRACT Purpose Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy with limited therapeutic options in the recurrent/metastatic setting; little is known regarding its responsiveness to immunotherapy. Inhibition of enhancer of zeste homolog 2 (EZH2) has been shown to improve T‐cell‐mediated killing and susceptibility to immune checkpoint ...
Elisabetta Xue, Tolulope Adeyelu, Harris Krause, Andrew Elliott, Ranee Mehra, Heloisa Soares, Emil Lou, Ari Vanderwalde, David Spetzler, Dara Bracken‐Clarke, Nyall R. London Jr., James L. Gulley, Charalampos S. Floudas   +12 more
wiley   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

The hidden regulators: Non‐coding RNAs in KMT2A‐rearranged acute lymphoblastic leukemia

International Journal of Cancer, EarlyView.
Abstract Acute lymphoblastic leukemia (ALL) driven by KMT2A rearrangements (KMT2A‐r) is an aggressive hematologic malignancy with poor prognosis and a high incidence in infants. While KMT2A fusion proteins drive leukemogenesis through transcriptional dysregulation, recent discoveries have highlighted the pivotal role of non‐coding RNAs (ncRNAs) in ...
Maria Augusta Poersch, Ana Carolina Rodrigues, Priscila Elias Ferreira Stricker, Alexandre Luiz Korte Azevedo, Daniel Pacheco Bruschi, Jaqueline Carvalho de Oliveira   +5 more
wiley   +1 more source

Nonsense Mutation [PDF]

, 2020
openaire   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours

Journal of Clinical Laboratory Analysis, EarlyView.
RNA‐based fusion panels using targeted next‐generation sequencing of formalin‐fixed paraffin‐embedded (FFPE) tumour tissue specimens have been used for a few years from patients with various tumour types to detect rearrangements/fusions. Using the bioinformatic approaches the data obtained from RNA sequencing (RNAseq) can also be used for small ...
Pranav Dorwal, Julie Robin, Broden Krause, Patricia Pyrchla, Bin Yuan, Robert Quach, Anna Fong Na Goh, Pamela Htain, Noel Djitro, Amit Kumar, Liyan Song, Priscillia Siswara, Suzanne Svobodova, Peter Kaub, Beena Kumar   +14 more
wiley   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source

BMI and Breast Subcutaneous Fat

Journal of Ultrasound in Medicine, EarlyView.
Objectives Obesity is closely associated with the occurrence and progression of breast cancer. While body mass index (BMI) is widely used to diagnose obesity, it has certain limitations. Subcutaneous fat thickness (SFT) also serves as an indicator of body composition. However, studies on breast SFT are scarce.
Shiyu Wang, Jin Zhou, Yunxia Huang, Dongdong Zheng, Ruoqing Hou, Shichong Zhou   +5 more
wiley   +1 more source