Results 31 to 40 of about 838,531 (316)

Clinical Characteristics of Chronic Myeloid Leukemia Patients with Deletion and Non-deletion of ASS Gene on Derivative Chromosome 9

Zhongliu Fangzhi Yanjiu, 2023
Objective To investigate the clinical characteristics of patients with chronic myeloid leukemia (CML) in chronic phase with deletion and non-deletion of the argininosuccinate synthesis gene (ASS gene) on the derivative chromosome 9.
GAO Guanlun, ZHOU Xuan, XU Na, LIU Xiaoli, WEI Ting, LI Qingshan   +5 more
doaj   +1 more source

A large deletion in the CFTR gene in CBAVD [PDF]

Genetics in Medicine, 2006
Most cystic fibrosis mutation screening methods do not detect large exon deletions or duplications in the cystic fibrosis transmembrane regulator gene. We looked for such mutations in congenital bilateral absence of the vas deferens patients in whom routine screening assays had identified only one or no cystic fibrosis transmembrane regulator gene ...
Feras M, Hantash, Aubrey, Milunsky, Zhenyuan, Wang, Ben, Anderson, Weimin, Sun, Arturo, Anguiano, Charles M, Strom   +6 more
openaire   +2 more sources

Gene Deletions and Prognostic Values in B-Linage Acute Lymphoblastic Leukemia

Frontiers in Oncology, 2021
Although pediatric-like treatment regimen has remarkably improved the survival rates of adults with acute lymphoblastic leukemia (ALL), the outcome of some adult patients is still poor owing to adverse genetic features.
Qiuyun Fang, Yang Song, Xiaoyuan Gong, Jun Wang, Qinghua Li, Kaiqi Liu, Yahui Feng, Qishan Hao, Yan Li, Hui Wei, Guangji Zhang, Yuntao Liu, Benfa Gong, Ying Wang, Chunlin Zhou, Dong Lin, Bingcheng Liu, Shuning Wei, Runxia Gu, Yingchang Mi, Jianxiang Wang   +20 more
doaj   +1 more source

Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I

, 2013
Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant disorder. Deletion or mutation of the TRPS1 gene leads to the tricho-rhino-phalangeal syndromes type I or type III.
Nan, Xu, Zhang, Feng-shan, Song, Qing-hua, Chen, Xue-rong, Zhao, Hong-shan, Li, Chun-ting, Dai, Shan   +6 more
core   +1 more source

Development of ptxD/Phi as a new dominant selection system for genetic manipulation in Cryptococcus neoformans

Microbiology Spectrum
Cryptococcus neoformans is a globally distributed pathogenic fungus posing a significant threat to immunocompromised individuals, particularly those with HIV/AIDS.
Muthita Khongthongdam, Tanaporn Phetruen, Sittinan Chanarat   +2 more
doaj   +1 more source

Social cognition in Williams Syndrome: genotype/phenotype insights from partial deletion patients [PDF]

, 2012
Identifying genotype/phenotype relations in human social cognition has been enhanced by the study of Williams syndrome (WS). Indeed, individuals with WS present with a particularly strong social drive, and researchers have sought to link deleted genes in
Kay eMetcalfe, Metcalfe, K., Annette Karmiloff-Smith, Senju, Atsushi, Peter Turnpenny, Wu, Racehl, Longhi, Elena, Happé, Francesca, Kay Metcalfe, Sansbury, F., Hannah Broadbent, Longhi, E, Metcalfe, Kay, Farran, EK, D'Souza, D, Happé, F., Turnpenny, Peter, Annette eKarmiloff-Smith, Wu, Rachel, Elena eLonghi, Longhi, E., Sansbury, Francis, Francesca eHappé, D'Souza, Dean, Farran, Emily, Elena Longhi, Tassabehji, M., Emily K. Farran, Turnpenny, P., Metcalfe, K, Tassabehji, May, Karmiloff-Smith, A, Dean eD'Souza, Broadbent, H., Broadbent, Hannah, Tassabehji, M, Atsushi Senju, Broadbent, H, Francis eSansbury, Rachel Wu, Wu, R, Peter eTurnpenny, May eTassabehji, Happé, F, Farran, E.K., Atsushi eSenju, Francis Sansbury, Turnpenny, P, Dean D’Souza, Francesca Happé, Senju, A, Hannah eBroadbent, Rachel eWu, Sansbury, F, May Tassabehji, Karmiloff-Smith, Annette, Farran, Emily K   +56 more
core   +1 more source

Systematic analysis of tRNA transcription unit deletions in E. coli reveals insights into tRNA gene essentiality and cellular adaptation

Scientific Reports
Transfer ribonucleic acids (tRNAs) are essential for protein synthesis, decoding mRNA sequences into amino acids. In E. coli K-12 MG1655, 86 tRNA genes are organized in 43 transcription units (TUs) and the essentiality of individual tRNA TUs in bacterial
Sanja Tiefenbacher, Valérie Pezo, Philippe Marlière, Tania M. Roberts, Sven Panke   +4 more
doaj   +1 more source

A markerless protocol for genetic analysis of Aggregatibacter actinomycetemcomitans

Journal of the Formosan Medical Association, 2014
The genomes of different Aggregatibacter actinomycetemcomitans (A actinomycetemcomitans) strains contain many strain-specific genes and genomic islands (defined as DNA found in some but not all strains) of unknown functions.
Ya-An Cheng, Jason Jee, Genie Hsu, Yanyan Huang, Casey Chen, Chun-Pin Lin   +5 more
doaj   +1 more source

Transcriptional and Post-Transcriptional Polar Effects in Bacterial Gene Deletion Libraries

mSystems, 2021
Single-gene deletions can affect the expression levels of other genes in the same operon in bacterial genomes. Here, we used proteomics for 133 Escherichia coli gene deletion mutants and transcriptome sequencing (RNA-seq) data from 71 mutants to probe ...
André Mateus, Malay Shah, Johannes Hevler, Nils Kurzawa, Jacob Bobonis, Athanasios Typas, Mikhail M. Savitski   +6 more
doaj   +1 more source

Malaria Species And Southeast Asian Ovalocytosis Defined By A 27-BP Deletion In The Erythrocyte Band 3 Gene [PDF]

, 2002
To evaluate the resistance of SAO against species specific malaria infection, relationships between parasite species and the 27-bp deletion in the band 3 gene were studied in malaria endemic Sumba Island, eastern Indonesia.
Soemantri, Augustinus, Ishida, Takafumi, Kimura, Masako   +2 more
core