Results 51 to 60 of about 638,054 (298)

Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

Bulletin of the National Research Centre, 2021
Background Much interest has not been placed on the role of chromosomal abnormalities in the pathogenesis and rising prevalence of infertility in recent times.
Tajudeen O. Yahaya, Esther O. Oladele, Daniel Anyebe, Chidiebere Obi, M. D. A. Bunza, Ridwan Sulaiman, Usman U. Liman   +6 more
doaj   +1 more source

Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer

Molecular Oncology, EarlyView.
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia, Anouk C. de Jong, Lisanne F. van Dessel, Vanja de Weerd, Corine Beaufort, Jean Helmijr, José Alberto Nakauma‐González, Job van Riet, Paul Hamberg, Daniel Vis, Michiel S. van der Heijden, Nick Beije, Martijn P. Lolkema, Teoman Deger, Saskia M. Wilting, Ronald de Wit, Maurice P. H. M. Jansen, John W. M. Martens   +17 more
wiley   +1 more source

MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

Molecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin, Audrey Vinchent, Marie Fernandes, Isabelle Damour, Agathe Laratte, Rémi Tellier, Gabriella O. Estevam, Jean‐Pascal Meneboo, Céline Villenet, Clotilde Descarpentries, James S. Fraser, Martin Figeac, Alexis B. Cortot, Etienne Rouleau, David Tulasne   +14 more
wiley   +1 more source

Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM

Molecular Oncology, EarlyView.
CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak, Żaneta Zarębska, Marcin P. Sajek, Adriana Grabowska, Alessia Buratin, Paweł Głodowicz, Julia O. Misiorek, Konrad Kuczyński, Stefania Bortoluzzi, Marek Żywicki, Jan G. Kosiński, Agnieszka Rybak‐Wolf, Rafał Piestrzeniewicz, Anna M. Barciszewska, Katarzyna Rolle   +14 more
wiley   +1 more source

Study on Types of Chromosomal Abnormalities among Children and Adolescents in Hamadan

پژوهان, 2021
Aims: Problems caused by chromosomal abnormalities along with long-term disabilities can have devastating effects on the patient, family, health care system and society.
Fatemeh Bahreini, Negar Shamloei, Razieh Amini   +2 more
doaj  

Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

Clinics and Practice, 2016
A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses.
Akiko Takashima, Naoki Takeshita, Toshihiko Kinoshita   +2 more
doaj   +1 more source

Chromosome Evolution: The Junction of Mammalian Chromosomes in the Formation of Mouse Chromosome 10 [PDF]

Genome Research, 2000
During evolution, chromosomes are rearranged and become fixed into new patterns in new species. The relatively conservative nature of this process supports predictions of the arrangement of ancestral mammalian chromosomes, but the basis for these rearrangements is unknown.
Eda Malaj, Mathew T. Pletcher, Bruce A. Roe, Ahn Do, Trang Do, Fang Chen, Roger H. Reeves   +6 more
openaire   +3 more sources

Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma

Molecular Oncology, EarlyView.
This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu, Jianchao Wang, Fuqing Chen, Xuefeng Wang, Bin Lan, Ruyi Fu, Hong Wen, Fangfang Chen, Wei Hong, Tian‐Yu Tang, Ying He, Gang Chen, Jianyin Zhou, Hai‐Long Piao, Di Chen, Shu‐Yong Lin   +15 more
wiley   +1 more source

Pattern of Chromosomal Aberrations in Patients from North East Iran [PDF]

Cell Journal, 2013
Objective: Chromosomal aberrations are common causes of multiple anomaly syndromes. Recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques ...
Saeedeh Ghazaey, Farzaneh Mirzaei, Mitra Ahadian, Fatemeh Keifi, Semiramis Tootian, Mohammad Reza Abbaszadegan   +5 more
doaj  

Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

Frontiers in Cellular Neuroscience, 2020
Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem ...
Yohei Hayashi, Miho Takami, Mami Matsuo-Takasaki   +2 more
doaj   +1 more source