Results 51 to 60 of about 10,428 (253)

The consequences of tetraploidy and aneuploidy [PDF]

Journal of Cell Science, 2008
Polyploidy, an increased number of chromosome sets, is a surprisingly common phenomenon in nature, particularly in plants and fungi. In humans, polyploidy often occurs in specific tissues as part of terminal differentiation. Changes in ploidy can also result from pathophysiological events that are caused by viral-induced cell fusion or erroneous cell ...
Storchova, Z., Kuffer, C.
openaire   +3 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Aneuploidy and Skeletal Health [PDF]

Current Osteoporosis Reports, 2014
The normal human chromosome complement consists of 46 chromosomes comprising 22 morphologically different pairs of autosomes and one pair of sex chromosomes. Variations in either chromosome number and/or structure frequently result in significant mental impairment and/or a variety of other clinical problems, among them, altered bone mass and strength ...
Archana, Kamalakar, John R, Harris, Kent D, McKelvey, Larry J, Suva   +3 more
openaire   +2 more sources

Telomerase activity, telomere length, and the euploidy rate of human embryos

Gynecological Endocrinology
Background Telomeres maintain chromosome stability, while telomerase counteracts their progressive shortening. Telomere length varies between cell types, with leukocyte telomere length (LTL) decreasing with age.
Maria Longo, Ermanno Greco, Ilaria Listorti, Maria Teresa Varricchio, Katerina Litwicka, Cristiana Arrivi, Cecilia Mencacci, Pierfrancesco Greco   +7 more
doaj   +1 more source

Mouse Models of Aneuploidy

The Scientific World Journal, 2012
Abnormalities of chromosome copy number are called aneuploidies and make up a large health load on the human population. Many aneuploidies are lethal because the resulting abnormal gene dosage is highly deleterious.
Olivia Sheppard, Frances K. Wiseman, Aarti Ruparelia, Victor L. J. Tybulewicz, Elizabeth M. C. Fisher   +4 more
doaj   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

Biological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke, Søren B. Hansen, Morten T. Limborg   +2 more
wiley   +1 more source

Fungal Antimicrobial Resistance: Mechanisms, Drivers, and Global Clinical Burden

ChemFoodChem, EarlyView.
ABSTRACT Fungal antimicrobial resistance (AMR) is a growing concern for world health caused by an increase in multidrug‐resistant infections, an increase in environmental reservoirs, and the ineffectiveness of current antifungal treatments. Fungal infections continue to be largely excluded from AMR initiatives while causing over 1.6 million deaths ...
Bikash Baral
wiley   +1 more source

The Epigenetic Origin of Aneuploidy [PDF]

Current Genomics, 2008
Theodore Boveri, eminent German pathologist, observed aneuploidy in cancer cells more than a century ago and suggested that cancer cells derived from a single progenitor cell that acquires the potential for uncontrolled continuous proliferation. Currently, it is well known that aneuploidy is observed in virtually all cancers.
Herrera, Luis A, Prada, Diddier, Andonegui, Marco A, Dueñas-González, Alfonso   +3 more
openaire   +2 more sources