Results 91 to 100 of about 218,782 (270)

Mouse models of aneuploidy to understand chromosome disorders. [PDF]

Mamm Genome, 2022
Tosh J, Tybulewicz V, Fisher EMC.
europepmc   +1 more source

Recent Applications of Mesoporous Silica Nanoparticles in Gene Therapy

Advanced Healthcare Materials, EarlyView.
The review summarizes the synthesis of mesoporous silica nanoparticles (MSNs) with modifiable surface properties, functionalization strategies, mechanism of therapeutic payload release, and current applications in gene therapy, focusing on their capabilities in the targeted delivery of therapeutic nucleic acids, CRISPR‐Cas systems, and other genetic ...
Tamanna Binte Huq, Punnya Anil Kumar Jeeja, Sudip Kumar Dam, Sabya Sachi Das, Juan L. Vivero‐Escoto   +4 more
wiley   +1 more source

Cornelia de Lange syndrome and cancer: An open question

, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 292-295, January 2023.
Maria M. Pallotta, Maddalena Di Nardo, Raoul C. M. Hennekam, Frank J. Kaiser, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Antonie D. Kline, Antonio Musio   +8 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes. [PDF]

J Assist Reprod Genet, 2022
Martel RA, Blakemore JK, Fino ME.
europepmc   +1 more source

Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation

Neural Plasticity, 2012
The development of genetic technologies has led to the identification of several copy number variations (CNVs) in the human genome. Genome rearrangements affect dosage-sensitive gene expression in normal brain development.
Jun Nomura, Toru Takumi
doaj   +1 more source

Advanced Materials for Biological Field‐Effect Transistors (Bio‐FETs) in Precision Healthcare and Biosensing

Advanced Healthcare Materials, EarlyView.
This review explores how advanced materials enhance Bio‐FETs for precision healthcare and biosensing. It covers their working principles, surface functionalization, and ultra‐sensitive detection capabilities. The integration of flexible designs, AI, and IoT for real‐time monitoring is discussed, along with challenges like material reproducibility and ...
Minal Pandey, Manish Bhaiyya, Prakash Rewatkar, Jitendra B. Zalke, Nitin P. Narkhede, Hossam Haick   +5 more
wiley   +1 more source

Functional Biomaterials Derived from Protein Liquid–Liquid Phase Separation and Liquid‐to‐Solid Transition

Advanced Materials, EarlyView.
Protein can undergo liquid–liquid phase separation and liquid‐to‐solid transition to form liquid condensates and solid aggregates. These phase transitions can be influenced by post‐translational modifications, mutations, and various environmental factors.
Tianchen Li, Dea Ilhamsyah, Benedict Tai, Yi Shen   +3 more
wiley   +1 more source

Role of sex in immune response and epigenetic mechanisms

Epigenetics & Chromatin
The functioning of the human immune system is highly dependent on the sex of the individual, which comes by virtue of sex chromosomes and hormonal differences. Epigenetic mechanisms such as X chromosome inactivation, mosaicism, skewing, and dimorphism in
Sombodhi Bhattacharya, Debasmita Sadhukhan, Radha Saraswathy   +2 more
doaj   +1 more source

Epigenetics and autoimmune diseases: The X chromosome-nucleolus nexus

Frontiers in Genetics, 2015
Autoimmune diseases occur more often in females, suggesting a key role for the X chromosome. X chromosome inactivation, a major epigenetic feature in female cells that provides dosage compensation of X-linked genes to avoid overexpression, presents ...
Wesley H. Brooks, Yves eRenaudineau, Yves eRenaudineau   +2 more
doaj   +1 more source