Results 61 to 70 of about 125,272 (358)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report

Clinical Case Reports, 2022
Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines.
Wilberg A. Moncada Arita, Eduardo Smelin Perdomo Domínguez, Astrid Yohaly Rivera Caballero, Nelson A. Espinoza‐Moreno, Mauricio E. Zavala Galeano, Barbara R. DuPont, Héctor M. Ramos‐Zaldívar   +6 more
doaj   +1 more source

Outstanding intraindividual genetic diversity in fissiparous planarians (Dugesia, Platyhelminthes) with facultative sex.

, 2019
Predicted genetic consequences of asexuality include high intraindividual genetic diversity (i.e., the Meselson effect) and accumulation of deleterious mutations (i.e., Muller’s Ratchet), among others.
Leria, L., Riutort, M., Solà, E., Vila Farre, M.   +3 more
core   +1 more source

Synthesis and Electronic Structure of the Fractionally Occupied Double Perovskite EuTa2O6 with Ordered Europium Vacancies

Advanced Functional Materials, EarlyView.
Two‐dimensional electronic states are the foundation of modern semiconductor technology. Here, we report molecular‐beam epitaxy growth of fractional double perovskite, EuTa2O6. Reciprocal space mapping and transmission electron microscopy confirm a layered ordering of A‐site cations.
Tobias Schwaigert, Ali Barooni, Benjamin Gregory, Paul Malinowski, Anirudh Tenneti, Sonia Hasko, Brenan Palazzolo, Jeffrey W Hodgson, Brendan Faeth, Patrick M. Woodward, Kyle M. Shen, Andrej Singer, Maryam Ghazisaeidi, Salva Salmani‐Rezaie, Darrell G. Schlom, Kaveh Ahadi   +15 more
wiley   +1 more source

Mosaic distal 13q duplication due to mosaic unbalanced translocation of 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present mosaic distal 13q duplication due to mosaic unbalanced translocation 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome.
Chih-Ping Chen, Fang-Tzu Wu, Shu-Yuan Chang, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Meng-Shan Lee, Chien-Ling Chiu, Wayseen Wang   +9 more
doaj   +1 more source

Preclinical correction of human Fanconi anemia complementation group A bone marrow cells using a safety-modified lentiviral vector. [PDF]

, 2010
One of the major hurdles for the development of gene therapy for Fanconi anemia (FA) is the increased sensitivity of FA stem cells to free radical-induced DNA damage during ex vivo culture and manipulation.
Adair, J, Beard, BC, Becker, PS, Chien, S, Kiem, H-P, Kohn, DB, Shimamura, A, Taylor, JA, Trobridge, GD, Wagner, JE, Zhao, X   +10 more
core   +2 more sources

Functional Materials for Environmental Energy Harvesting in Smart Agriculture via Triboelectric Nanogenerators

Advanced Functional Materials, EarlyView.
This review explores functional and responsive materials for triboelectric nanogenerators (TENGs) in sustainable smart agriculture. It examines how particulate contamination and dirt affect charge transfer and efficiency. Environmental challenges and strategies to enhance durability and responsiveness are outlined, including active functional layers ...
Rafael R. A. Silva, Giulio Fatti, Emanuel Carlos, Guilherme Ferreira, Sumita Goswami, Suman Nandy, Luiz H. C. Mattoso, Elvira Fortunato, Caio G. Otoni, Rodrigo Martins   +9 more
wiley   +1 more source

Many Mosaic Mutations

Current Oncology, 2013
Steven Narod’s latest Countercurrents contribution to Current Oncology discusses a new breast and ovarian cancer susceptibility gene known as PPM1D. [...]
Foulkes, W.D., Real, F.X.
openaire   +2 more sources

Multicolor Optoelectronic Synapse Enabled by Photon‐Modulated Remote Doping in Solution‐Processed Van Der Waals Heterostructures

Advanced Functional Materials, EarlyView.
Multicolor optoelectronic synapses are realized by vertically integrating solution‐processed MoS2 thin‐film and SWCNT. The electronically disconnected but interactive MoS2 enables photon‐modulated remote doping, producing a bi‐directional photoresponse.
Jihyun Kim, Hyunbin Kim, Gang Jin Cheon, Dohyun Lee, In Soo Kim, Uiyeon Won, Jongseok Lee, Sang Min Won, Joohoon Kang   +8 more
wiley   +1 more source

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

Journal of Pediatric Research, 2022
The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome.
Özge Köprülü, Sezer Acar, Kadri Murat Erdoğan, Özlem Nalbantoğlu, Tarık Kırkgöz, Gülçin Arslan, Beyhan Özkaya, Yaşar Bekir Kutbay, Behzat Özkan   +8 more
doaj   +1 more source