Results 81 to 90 of about 314,830 (333)

Comprehensive omics‐based classification system in adult patients with B‐cell acute lymphoblastic leukemia

Molecular Oncology, EarlyView.
The COMBAT classification system, developed through multi‐omics integration, stratifies adult patients with B‐cell acute lymphoblastic leukemia(B‐ALL) into three molecular subtypes with distinct surface antigen patterns, immune landscape, methylation patterns, biological pathways and prognosis.
Yang Song, Ting Liu, Qishan Hao, Qiuyun Fang, Xiaoyuan Gong, Yan Li, Zheng Tian, Hui Wei, Min Wang, Jianxiang Wang, Tao Cheng, Yingchang Mi   +11 more
wiley   +1 more source

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Frontiers in Genetics, 2019
Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear.
Yixi Sun, Yixi Sun, Yixi Sun, Yuqin Luo, Yuqin Luo, Yuqin Luo, Yeqing Qian, Yeqing Qian, Yeqing Qian, Min Chen, Min Chen, Min Chen, Liya Wang, Liya Wang, Liya Wang, Hongge Li, Hongge Li, Hongge Li, Yu Zou, Minyue Dong, Minyue Dong, Minyue Dong   +21 more
doaj   +1 more source

METTL3 knockout accelerates hepatocarcinogenesis via inhibiting endoplasmic reticulum stress response

FEBS Open Bio, EarlyView.
Liver‐specific knockout of N6‐methyladenosine (m6A) methyltransferase METTL3 significantly accelerated hepatic tumor initiation under various oncogenic challenges, contrary to the previously reported oncogenic role of METTL3 in liver cancer cell lines or xenograft models. Mechanistically, METTL3 deficiency reduced m6A deposition on Manf transcripts and
Bo Cui, Silin Tu, Haibo Li, Zhancheng Zeng, Ruiqi Xiao, Jing Guo, Xiaoqi Liang, Chang Liu, Lijie Pan, Wenjie Chen, Mian Ge, Xiaofen Zhong, Linsen Ye, Huaxin Chen, Qi Zhang, Yan Xu   +15 more
wiley   +1 more source

Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation [PDF]

, 2015
The identification of chromosomal rearrangements is of utmost importance for the diagnosis and classification of specific leukaemia subtypes and therefore has an impact on therapy choices in individual cases.
Federico, C, Owoka, T, Saccone, S, Tosi, S, Vetter, M   +4 more
core   +2 more sources

Possible role of human ribonuclease dicer in the regulation of R loops

FEBS Open Bio, EarlyView.
R loops play an important role in regulating key cellular processes such as replication, transcription, centromere stabilization, or control of telomere length. However, the unscheduled accumulation of R loops can cause many diseases, including cancer, and neurodegenerative or inflammatory disorders. Interestingly, accumulating data indicate a possible
Klaudia Wojcik, Paulina Krzeminska, Anna Kurzynska‐Kokorniak   +2 more
wiley   +1 more source

Co-occurring risk factors for alcohol dependence and habitual smoking. [PDF]

, 2000
Smoking and alcohol dependence frequently occur together, and both behaviors are determined in part by genetic influences. The Collaborative Study on the Genetics of Alcoholism (COGA), which is investigating the genetic factors contributing to alcohol ...
Bierut, LJ, Hesselbrock, V, Reich, T, Schuckit, MA   +3 more
core  

Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. [PDF]

, 2011
Because of the high costs associated with ascertainment of families, most linkage studies of Bipolar I disorder (BPI) have used relatively small samples. Moreover, the genetic information content reported in most studies has been less than 0.6.
A Kong, A MacLean, A Serretti, AE Baum, AJ Jasinska, AL Price, BK Suarez, BL Browning, C-Y Liu, D Blackwood, D Grozeva, D Grozeva, D Koller, D Lambert, D Morris, D Sadovnick, D Zhang, DH Blackwood, DL Pauls, E Green, E Green, E S Gershon, EM Wijsman, EN Smith, ER Hauser, ET Cirulli, F J McMahon, F Mathieu, G J Lyon, G Kirov, GR Abecasis, H Coon, H Edenberg, HJ Edenberg, HM Ollila, I Jones, J A Badner, J B Potash, J Fan, J I Nurnberger, J Kelsoe, J Ross, JI Nurnberger, JM Ekholm, JPA Ioannidis, JR Kelsoe, JR O’Connell, KA Frazer, KR Merikangas, KY Liang, L Jones, LJ Adams, LJ Scott, M Ayub, M Gill, M Hamshere, MA Spence, MAR Ferreira, MB McQueen, MS McPeek, N Craddock, P Keck, P P Zandi, P Sklar, PP Zandi, R Remick, R Robinson, R Segurado, S Macgregor, S Purcell, SA Bacanu, T Foroud, T Venken, TC Matise, V L Willour, W Byerley, W McMahon, WH Berrettini, WTCC Consortium   +78 more
core   +3 more sources

On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469

FEBS Open Bio, EarlyView.
ZNF469 regulates the expression of genes encoding extracellular matrix proteins. Endogenous ZNF469 is predominantly cytoplasmic, while in transfected cells, it forms aggregates reminiscent of biomolecular condensates, located mainly in the nucleus. These condensates exhibit overlapping staining with proteasomes and are also associated with the mitotic ...
Anne Elisabeth Christensen Mellgren, Ileana Cristea, Thomas Stevenson, Endy Spriet, Per Morten Knappskog, Stig Ove Bøe, Harald Kranz, Sushma N. Grellscheid, Eyvind Rødahl   +8 more
wiley   +1 more source

Prenatal Diagnosis of a Fetus with Partial Duplication and Deletion of Chromosome 18 Due to Maternal Pericentric Inversion 18

International Journal of Medical Students, 2022
The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may range from mild to severe, they have been widely studied in the literature, however, there are few cases where two or more mutations are present in the ...
Manuel Alejandro Vásquez Salguero, Wilmar Saldarriaga Gil   +1 more
doaj  

Alopecia areata: a multifactorial autoimmune condition [PDF]

, 2019
Alopecia areata is an autoimmune disease that results in non-scarring hair loss, and it is clinically characterised by small patches of baldness on the scalp and/or around the body. It can later progress to total loss of scalp hair (Alopecia totalis) and/
Butcher, John P., Henriquez, Fiona L., Reid, Stuart, Simakou, Teontor   +3 more
core   +1 more source