Results 91 to 100 of about 95,739 (341)

Dysregulation of gene expression in the artificial human trisomy cells of chromosome 8 associated with transformed cell phenotypes. [PDF]

PLoS ONE, 2011
A change in chromosome number, known as aneuploidy, is a common characteristic of cancer. Aneuploidy disrupts gene expression in human cancer cells and immortalized human epithelial cells, but not in normal human cells.
Hisakatsu Nawata, Genro Kashino, Keizo Tano, Kazuhiro Daino, Yoshiya Shimada, Hiroyuki Kugoh, Mitsuo Oshimura, Masami Watanabe   +7 more
doaj   +1 more source

DNA content analysis of colorectal cancer defines a distinct ‘microsatellite and chromosome stable’ group but does not predict response to radiotherapy [PDF]

, 2014
Colorectal cancers (CRC) are thought to have genetic instability in the form of either microsatellite instability (MSI) or chromosomal instability (CIN).
Abdel-Rahman, Araujo, Armitage, Baba, Bertagnolli, Curtis, Dhadda, Dhadda, Fadhil, Fadhil, Fearon, Fisher, Flyger, Fodde, Frei, Georgiades, Goh, Hadjihannas, Hawkins, Hedley, Heimann, Hutchins, Ilyas, Ingh, Jass, Karran, Kouri, Levitt, Lothe, Michelassi, Ormerod, Palles, Pino, Pritchard, Quirke, Rajagopalan, Ribic, Sieber, Silver, Suarez, Tang, The Cancer Genome Atlas Network, Thibodeau, Vecchio, Williams   +44 more
core   +2 more sources

The tolerance of aneuploidy in yeast

Genetical Research, 1970
SUMMARYSingle ascospore cultures from triploids were screened as a potential source of disomic tester stocks for the purpose of genetical mapping of chromosomes in yeast. A high tolerance of aneuploidy was found, and strains disomic for only one chromosome were rare.
Elizabeth M. Parry, Brian S. Cox
openaire   +3 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Preimplantation genetic testing for aneuploidy in uterus transplant patients

Therapeutic Advances in Reproductive Health, 2021
Uterus transplantation is an emerging treatment for uterine factor infertility. In vitro fertilization with cryopreservation of embryos prior is required before a patient can be listed for transplant.
Rhea Chattopadhyay, Elliott Richards, Valerie Libby, Rebecca Flyckt   +3 more
doaj   +1 more source

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto, Hisateru Tachimori, Tomoki Kosho, Kanta Kishi, Noboru Motomura, Yasutaka Hirata   +5 more
wiley   +1 more source

Machine-learning analysis reveals an important role for negative selection in shaping cancer aneuploidy landscapes

Genome Biology
Background Aneuploidy, an abnormal number of chromosomes within a cell, is a hallmark of cancer. Patterns of aneuploidy differ across cancers, yet are similar in cancers affecting closely related tissues.
Juman Jubran, Rachel Slutsky, Nir Rozenblum, Lior Rokach, Uri Ben-David, Esti Yeger-Lotem   +5 more
doaj   +1 more source

Increased frequency of aneuploidy in long-lived spermatozoa. [PDF]

PLoS ONE, 2014
Aneuploidy commonly causes spontaneous abortions, stillbirths, and aneuploid births in humans. Notably, the majority of sex chromosome aneuploidies in live births have a paternal origin.
Young-Ah You, Yoo-Jin Park, Woo-Sung Kwon, Sung-Jae Yoon, Buom-Yong Ryu, Young Ju Kim, Myung-Geol Pang   +6 more
doaj   +1 more source

Abnormal early cleavage events predict early embryo demise: sperm oxidative stress and early abnormal cleavage. [PDF]

, 2014
Human embryos resulting from abnormal early cleavage can result in aneuploidy and failure to develop normally to the blastocyst stage. The nature of paternal influence on early embryo development has not been directly demonstrated although many studies ...
Barker, Christopher M, Burruel, Victoria, Klooster, Katie, Meyers, Stuart, Pera, Renee Reijo   +4 more
core   +2 more sources

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source