Results 41 to 50 of about 199,308 (309)

Categories of Cutaneous Mosaicism

JEADV Clinical Practice
In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant ...
Rudolf Happle
doaj   +1 more source

Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model

Life, 2021
Detection of mosaic embryos is crucial to offer more possibilities of success to women undergoing in vitro fertilization (IVF) treatment. Next Generation Sequencing (NGS)-based preimplantation genetic testing are increasingly used for this purpose since ...
Anil Biricik, Ettore Cotroneo, Maria Giulia Minasi, Pier Francesco Greco, Sara Bono, Matteo Surdo, Federica Lecciso, Mariateresa Sessa, Francesco Fiorentino, Francesca Spinella, Ermanno Greco   +10 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Pigmentary Mosaicism: An Overview

JEADV Clinical Practice
Mosaicism refers to an individual who developed from a single fertilised egg but has two or more populations of cells with a different genotype as a result of a postzygotic mutation.
C. Colmant, E. Legius, N. Cattaert, M.‐A. Morren   +3 more
doaj   +1 more source

Cytogenetic abnormalities in a sample of females with premature ovarian failure

Middle East Fertility Society Journal, 2022
Background Premature ovarian failure (POF) is a complex heterogeneous disorder characterized by the triad of amenorrhea, hypergonadotropinism, and hypoestrogenism in women before the expected age of menopause.
Noha M. Issa, Ghada M. Elhady
doaj   +1 more source

Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.

Kidney International, 2019
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited, progressive nephropathy accounting for 4-10% of end stage renal disease worldwide. PKD1 and PKD2 are the most common disease loci, but even accounting for other genetic causes, about 7%
Katharina Hopp, E. Cornec-Le Gall, Sarah R. Senum, Iris B.A.W. te Paske, Sonam Raj, S. Lavu, S. Baheti, Marie E. Edwards, Charles D. Madsen, C. M. Heyer, A. Ong, K. Bae, R. Fatica, T. Steinman, A. Chapman, Berenice Y. Gitomer, R. Perrone, F. Rahbari-Oskoui, V. Torres, P. Harris   +19 more
semanticscholar   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46,XY mosaicism [PDF]

Brazilian Journal of Medical and Biological Research, 2020
The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome
Leilei Li, Han Zhang, Yi Yang, Hongguo Zhang, Ruixue Wang, Yuting Jiang, Ruizhi Liu   +6 more
doaj   +1 more source

Transfer of embryos with segmental mosaicism is associated with a significant reduction in live-birth rate.

Fertility and Sterility, 2019
OBJECTIVE To evaluate the impact of segmental mosaicism on pregnancy outcomes from the transfer of embryos previously designated as euploid. DESIGN Retrospective cohort analysis. SETTING Single, private, high-volume fertility center.
T. Zore, L. Kroener, Chunmin Wang, Lian Liu, R. Buyalos, G. Hubert, M. Shamonki   +6 more
semanticscholar   +1 more source

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source