Results 91 to 100 of about 63,140 (263)

Epilepsy, EEG and chromosomal rearrangements

Epilepsia Open
AbstractChromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy. The frequency, severity, and type of epileptic seizures vary according to the macro‐ and microrearrangements present.
Justyna Paprocka, Antonietta Coppola, Claudia Cuccurullo, Elżbieta Stawicka, Pasquale Striano   +4 more
openaire   +4 more sources

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Rapid host strain improvement by in vivo rearrangement of a synthetic yeast chromosome

Nature Communications, 2018
The Sc2.0 project has built the Synthetic Chromosome Rearrangement and Modification by LoxP-mediated Evolution (SCRaMbLE) system into their synthetic chromosomes.
B. A. Blount, G-O. F. Gowers, J. C. H. Ho, R. Ledesma-Amaro, D. Jovicevic, R. M. McKiernan, Z. X. Xie, B. Z. Li, Y. J. Yuan, T. Ellis   +9 more
doaj   +1 more source

Clinical outcomes following preimplantation genetic testing and microdissecting junction region in couples with balanced chromosome rearrangement. [PDF]

J Assist Reprod Genet, 2021
Cheng D, Hu L, Gong F, Yuan S, Luo K, Wu X, Xie P, Lu C, Lu G, Tan YQ, Lin G.   +10 more
europepmc   +1 more source

Minimizing Off‐Target Effects of CRISPR‐Cas9 With Optimized sgRNA: Evaluation of Efficiency and Specificity in the Tumor Protein 53 (TP53) Region

Biotechnology and Bioengineering, EarlyView.
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) – Cas9‐based genome editing has emerged as a widely used tool across various disciplines, ranging from molecular biology to gene therapy. This revolutionary technology, which enables precise gene editing, represents a significant advancement in biotechnology, opening new frontiers for ...
Ali Mertcan Köse, Monia Ranalli, Drenka Trivanovic, Irina Maslovaric   +3 more
wiley   +1 more source

An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son. [PDF]

Mol Syndromol, 2021
Campos AE, Rosenberg C, Krepischi A, França M, Lopes V, Nakano V, Vertemati T, Cochak M, Migliavacca M, Milanezi F, Sousa AC, Silva J, Vieira L, Monfredini P, Palumbo AC, Fernandes J, Perrone E.   +16 more
europepmc   +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

A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221). [PDF]

Genes (Basel), 2022
Clement A, Dominot T, Chammas J, Montagnon M, Delcroix M, Pfeffer J, Dupont JM, Lebbar A, Clement P, Vialard F.   +9 more
europepmc   +1 more source

The Influence of Drosophila Spire and Myosin V During Mid‐Oogenesis Is Independent of Their Direct Interaction

Cytoskeleton, EarlyView.
ABSTRACT Cooperativity between cytoskeletal proteins is crucial for spatiotemporal coordination in biological processes, like oogenesis. In mammalian and Drosophila oogenesis, proper assembly and function of actin networks require coordination between actin assembly factors Spire and formins, as well as actin‐associated proteins like myosins and Rab ...
Joseph Y. Ong, Hannah M. Bailey, Emma Carley, Michelle Panzica, Merin Rixen, Neil Billington, Rong Liu, Margot E. Quinlan   +7 more
wiley   +1 more source

Analysis of clinical outcomes and meiotic segregation modes following preimplantation genetic testing for structural rearrangements using aCGH/NGS in couples with balanced chromosome rearrangement. [PDF]

Reprod Med Biol, 2022
Nakano T, Ammae M, Satoh M, Mizuno S, Nakaoka Y, Morimoto Y.   +5 more
europepmc   +1 more source