Results 71 to 80 of about 968,335 (302)

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider, Amelie Alfert, Marc Hotfilder, Birgit Burkardt, Marcel te Vrugt   +4 more
wiley   +1 more source

Interaction Analysis of Repeated Measure Data [PDF]

, 2020
Extensive penalized variable selection methods have been developed in the past two decades for analyzing high dimensional omics data, such as gene expressions, single nucleotide polymorphisms (SNPs), copy number variations (CNVs) and others.
Jiang, Yu, Li, Xiaoxi, Ren, Jie, Wu, Cen, Zhou, Fei   +4 more
core  

VACTERL association etiology: The impact of de novo and rare copy number variations [PDF]

, 2012
Copy number variations (CNVs), either DNA gains or losses, have been found at common regions throughout the human genome. Most CNVs neither have a pathogenic significance nor result in disease-related phenotypes but, instead, reflect the normal ...
Bever, Y. (Yolande) van, Brosens, E. (Erwin), Eussen, H.J.F.M.M. (Bert), Helm, R.M. (Robert) van der, IJsselstijn, H. (Hanneke), Klein, J.E.M.M. (Annelies) de, Scott, D.A., Tibboel, D. (Dick), Wijnen, R.M.H. (René), Zaveri, H.P. (Hitisha)   +9 more
core   +2 more sources

Ethnic Differences in the Association Between SOD2 rs4880 and Hepatotoxicity in Pediatric Acute Lymphoblastic Leukemia: A Report From the REDIAL Consortium

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Treatment‐associated hepatotoxicity (TAH) is a common complication of pediatric acute lymphoblastic leukemia (ALL) treatment, but genetic risk factors remain poorly understood. We evaluated the SOD2 rs4880 variant in 544 children with ALL at Texas Children's Hospital. After adjusting for demographic and clinical covariates, the rs4880 C allele
Emily J. Mason, John P. Woodhouse, Joanna S. Yi, M. Monica Gramatges, Olga A. Taylor, Veronica A. Morales, Shalini Dhamodharan, Marley Roberts, Karen R. Rabin, Philip J. Lupo, Michael E. Scheurer, Van Huynh, Steven D. Mittelman, Etan Orgel, Austin L. Brown   +14 more
wiley   +1 more source

Whole-Genome/Exome Sequencing Uncovers Mutations and Copy Number Variations in Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System

Frontiers in Genetics, 2022
Background/objective: Identification of key genetic alterations is of importance in the targeted therapies of primary central nervous system lymphoma (PCNSL). However, only a small number of studies have been carried out in PCNSL.
Qiong Zhu, Jianchao Wang, Wenfang Zhang, Weifeng Zhu, Zaizeng Wu, Yanping Chen, Musheng Chen, Limei Zheng, Jianqing Tang, Sheng Zhang, Di Wang, Xingfu Wang, Gang Chen   +12 more
doaj   +1 more source

COPY NUMBER VARIATIONS IN THE ETIOLOGY OF EPILEPSY [PDF]

, 2013
Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Idiopathic epilepsies occur in the absence of identifiable causal factors, but recent evidences show the role of genetic factors ...
Antona,V, Ballacchino,A, Busè,M, Consiglio,V, CORSELLO, Giovanni, Graziano,F, Martines,M, PIRO, Ettore, Salzano,M   +8 more
core  

Copy Number Variations in Neuropsychiatric Disorders

International Journal of Molecular Sciences, 2023
Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved.
Gergely Büki, Kinga Hadzsiev, Judit Bene   +2 more
openaire   +2 more sources

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

European Journal of Medical Research, 2021
Background Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and
Taccyanna M. Ali, Emilia Mateu-Brull, Nuria Balaguer, Camila Dantas, Haline Risso Borges, Mariana Quintans Guerra de Oliveira, Lorena Rodrigo, Inmaculada Campos-Galindo, Roser Navarro, Miguel Milán   +9 more
doaj   +1 more source

Genome-Wide Detection of Copy Number Variations and Evaluation of Candidate Copy Number Polymorphism Genes Associated With Complex Traits of Pigs

Frontiers in Veterinary Science, 2022
Copy number variation (CNV) has been considered to be an important source of genetic variation for important phenotypic traits of livestock. In this study, we performed whole-genome CNV detection on Suhuai (SH) (n = 23), Chinese Min Zhu (MZ) (n = 11 ...
Chunlei Zhang, Jing Zhao, Yanli Guo, Qinglei Xu, Mingzheng Liu, Meng Cheng, Xiaohuan Chao, Allan P. Schinckel, Bo Zhou   +8 more
doaj   +1 more source