Results 71 to 80 of about 1,041,756 (339)

Genome-wide search for strabismus susceptibility loci. [PDF]

, 2003
The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake, Hasebe, Satoshi, Kitada, Mizue, Matsuo, Toshihiko, Ohtsuki, Hiroshi, Sato, Masako, Yamane, Takashi   +6 more
core   +1 more source

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

FEBS Letters, EarlyView.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona, Carlo M. Bergamini, Carlo Ferrari, Stefano Volinia, Nicoletta Bianchi   +4 more
wiley   +1 more source

Genetic Requirements for Intra-Chromosomal Deletions [PDF]

, 2020
Chromosomal deletions are one of the most dangerous types of DNA damage and often arise as a result of inappropriately repaired DNA double strand breaks (DSB).
McPherson, Matthew
core  

Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target

FEBS Letters, EarlyView.
This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz, Milagros Siebeck Caturelli, Lina S. Lehmann, Florian Kurth, Alexander G. Maier, Kai Matuschewski   +5 more
wiley   +1 more source

Cytogenetic techniques in current biomedical research. Part II: chromosomal rearrangements

Фундаментальная и клиническая медицина, 2022
Mutations represent a natural mechanism for adaptation of species to changing environmental conditions. Chromosomal rearrangements play a pivotal role in the evolution, as evidenced by the comparison of human and non-human primate karyotypes, and have ...
А. N. Volkov, O. I. Rytenkova
doaj   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

The radial arrangement of the human chromosome 7 in the lymphocyte cell nucleus is associated with chromosomal band gene density [PDF]

, 2008
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ Springer-Verlag 2008.In the nuclei of human lymphocytes, chromosome territories are distributed according to the average gene density of ...
A Bolzer, A Ono, AM Boutanaev, B Dutrillaux, BA Boggs, C Federico, C Federico, C Federico, C Federico, C Federico, Catia Daniela Cantarella, CM Clemson, Concetta Federico, D Zink, E Lukasova, ED Andrulis, EV Volpi, G Bernardi, G D’Onofrio, H Tanabe, H Tanabe, HA Foster, I Solovei, IHGSC (International Human Genome Sequencing Consortium), J Ferreira, J Strouboulis, J Zhou, JA Croft, JJ Roix, JM Bridger, K Kupper, KE Brown, L Andreozzi, M Cockell, M Costantini, M Neusser, N Gilbert, N Sadoni, NV Petrova, Patrizia Di Mare, PS Masny, S Boyle, S D’Antoni, S Saccone, S Saccone, S Saccone, S Saccone, Sabrina Tosi, Salvatore Saccone, SW Scherer, T Cremer, TS Furey, U Francke, WA Bickmore   +53 more
core   +1 more source

A large‐scale retrospective study in metastatic breast cancer patients using circulating tumour DNA and machine learning to predict treatment outcome and progression‐free survival

Molecular Oncology, EarlyView.
There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes, Mario Ortega Duran, Solon Karapanagiotis, Alistair Martin, Meiling Gao, Riccardo Masina, Ramona Woitek, James Tanner, Fleur Tippin, Justine Kane, Jonathan Lay, Anja Brouwer, Stephen‐John Sammut, Suet‐Feung Chin, Davina Gale, Dana W. Y. Tsui, Sarah‐Jane Dawson, Nitzan Rosenfeld, Maurizio Callari, Oscar M. Rueda, Carlos Caldas   +20 more
wiley   +1 more source

Genomic signatures of past and present chromosomal instability in Barrett’s esophagus and early esophageal adenocarcinoma

Nature Communications, 2023
The progression of precancerous lesions to malignancy is often accompanied by increasing complexity of chromosomal alterations but how these alterations arise is poorly understood.
Chunyang Bao, Richard W. Tourdot, Gregory J. Brunette, Chip Stewart, Lili Sun, Hideo Baba, Masayuki Watanabe, Agoston T. Agoston, Kunal Jajoo, Jon M. Davison, Katie S. Nason, Gad Getz, Kenneth K. Wang, Yu Imamura, Robert Odze, Adam J. Bass, Matthew D. Stachler, Cheng-Zhong Zhang   +17 more
doaj   +1 more source

Validation of phylogenetic informative Y-InDels in Y-chromosomal haplogroup O-M175

Frontiers in Genetics, 2023
The Y-chromosomal haplogroup tree, which consists of a group of Y-chromosomal loci with phylogenetic information, has been widely applied in anthropology, archaeology and population genetics.
Zhihan Zhou, Zhimin Li, Yining Yao, Jinglei Qian, Qiqi Ji, Chengchen Shao, Jianhui Xie   +6 more
doaj   +1 more source