Results 91 to 100 of about 3,786,126 (364)

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Frontiers in Genetics, 2019
Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear.
Yixi Sun, Yixi Sun, Yixi Sun, Yuqin Luo, Yuqin Luo, Yuqin Luo, Yeqing Qian, Yeqing Qian, Yeqing Qian, Min Chen, Min Chen, Min Chen, Liya Wang, Liya Wang, Liya Wang, Hongge Li, Hongge Li, Hongge Li, Yu Zou, Minyue Dong, Minyue Dong, Minyue Dong   +21 more
doaj   +1 more source

Alzheimer's disease and HIV associated dementia related genes: I. location and function. [PDF]

, 2008
Alzheimer's disease (AD), the most common cause of dementia, has few clinical similarities to HIV-1-associated dementia (HAD). However, genes were identified related among these dementias.
Chiappelli, Francesco, Kayathri, Rajarathinam, Levine, Andrew, Minagar, Alireza, Rodriguez, Hector E, Shapshak, Paul   +5 more
core   +3 more sources

An Animal‐Free Patient‐Derived Tissue‐Mimetic Biochip Model of the Human Synovial Membrane for Human‐Relevant Osteoarthritis Research

Advanced Healthcare Materials, EarlyView.
Reihs et al. present the development of a humanized, animal‐free synovial membrane model for osteoarthritis. Methods include 3D biochip cultures of human‐primary OA synoviocytes with matrix and serum surrogates. Results show replication of synovial architecture and increased Yap1 expression.
Eva I. Reihs, Alexander Stoegner, Mateo G. Vasconez Martínez, Markus M. Schreiner, Melanie Cezanne, Ruth Gruebl‐Barabas, Bettina Rodriguez‐Molina, Juergen Alphonsus, Silvia Hayer, Richard Lass, Iris Gerner, Florien Jenner, Wolfgang Holnthoner, Stefan Toegel, Peter Ertl, Hans P. Kiener, Reinhard Windhager, Mario Rothbauer   +17 more
wiley   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

Integration of Bioengineered Tools in Assisted Reproductive Technologies

Advanced Healthcare Materials, EarlyView.
A conceptual illustration depicting the collaboration between a medical professional (right) and a scientist (left). Their connection highlights the integration of scientific research and clinical practice. This representation underscores the role of emerging technologies in bridging fundamental research with applied reproductive healthcare.
Aslı Ak, Edith Coonen, Ron van Golde, Erik Vrij   +3 more
wiley   +1 more source

Catastrophic chromosomal restructuring during genome elimination in plants. [PDF]

, 2015
Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered.
Bradnam, Keith R, Chan, Simon Wl, Comai, Luca, Henry, Isabelle M, Korf, Ian, Lysak, Martin A, Mandakova, Terezie, Marimuthu, Mohan Pa, Ravi, Maruthachalam, Tan, Ek Han   +9 more
core   +1 more source

The Rise of Mechanobiology for Advanced Cell Engineering and Manufacturing

Advanced Materials, EarlyView.
With the growing demand for cell‐based therapies, efficient cellular engineering is crucial. This review calls for greater recognition of mechanobiology principles applied through advanced biomaterial designs, mechanical confinement, and highlights recent advances using micro/nanotechnologies to enhance cell manufacturing.
Huan Ting Ong, M Sriram, Hepi Hari Susapto, Yixuan Li, Yuan Jiang, Nicolas H. Voelcker, Jennifer L. Young, Andrew W. Holle, Roey Elnathan   +8 more
wiley   +1 more source

GeneLink: a database to facilitate genetic studies of complex traits [PDF]

, 2004
BACKGROUND: In contrast to gene-mapping studies of simple Mendelian disorders, genetic analyses of complex traits are far more challenging, and high quality data management systems are often critical to the success of these projects.
Bailey-Wilson, Joan E, Baxevanis, Andreas D, Duggal, Priya, Freas-Lutz, Diana, Gildea, Derek, Gillanders, Elizabeth M, Ibay, Grace, Jones, Mary Pat, Klein, Alison P, Masiello, Anthony, Trent, Jeffrey M, Trout, Ken, Umayam, Lowell, Wolfsberg, Tyra G   +13 more
core   +2 more sources

Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family.

American Journal of Human Genetics, 2001
A family with a (1;11)(q42;q14.3) translocation significantly linked to a clinical phenotype that includes schizophrenia and affective disorders is described.
D. Blackwood, D. Blackwood, A. Fordyce, M. Walker, D. Clair, D. Porteous, W. Muir, W. Muir   +7 more
semanticscholar   +1 more source

Biomolecular Condensates as Emerging Biomaterials: Functional Mechanisms and Advances in Computational and Experimental Approaches

Advanced Materials, EarlyView.
Integration of computational and experimental approaches for deciphering the underlying mechanism of biomolecular condensates and potential biomaterials design (Created in Biorender. Raza, Z. (2025) https://BioRender.com/irgmeqi). Abstract Biomolecular condensates, a ubiquitous class of biomaterials found in living cells, have been shown to be ...
Qiang Zhu, Zahra Raza, Dzung Do‐Ha, Emma De Costa, Pavlina Sasheva, Luke McAlary, Hadi Mahmodi, Warwick P. Bowen, Lezanne Ooi, Irina Kabakova, Haibo Yu   +10 more
wiley   +1 more source