Results 61 to 70 of about 7,790,467 (300)

Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion

Balkan Journal of Medical Genetics, 2016
Chromosome 13 is one of the acrocentric chromosomes of the human karyotype. Acrocentric chromosomes are the most variable chromosomes in the human karyotype and these variations appear to have no clinical consequences.
Uzun I, Has R, Alici E, Ozdemir M, Inan C, Erzincan S   +5 more
doaj   +1 more source

HumCFS: a database of fragile sites in human chromosomes

BMC Genomics, 2019
Background Fragile sites are the chromosomal regions that are susceptible to breakage, and their frequency varies among the human population. Based on the frequency of fragile site induction, they are categorized as common and rare fragile sites.
Rajesh Kumar, Gandharva Nagpal, Vinod Kumar, Salman Sadullah Usmani, Piyush Agrawal, Gajendra P. S. Raghava   +5 more
doaj   +1 more source

Investigating transcription factor dynamics in health and disease using FRAP

FEBS Letters, EarlyView.
FRAP analysis of GFP‐tagged transcription factors reveals how molecular mobility and target engagement change in response to drug treatment. By combining live‐cell imaging, quantitative model fitting, and statistical analysis, this approach uncovers transcription factor dynamics linked to disease mechanisms, providing a powerful framework for ...
Kannan Govindaraj, Carolina Vazquez Garzon, Jose Joaquin Velasco, Janine N. Post   +3 more
wiley   +1 more source

Specific nuclear envelope transmembrane proteins can promote the location of chromosomes to and from the nuclear periphery [PDF]

, 2013
BACKGROUND: Different cell types have distinctive patterns of chromosome positioning in the nucleus. Although ectopic affinity-tethering of specific loci can be used to relocate chromosomes to the nuclear periphery, endogenous nuclear envelope proteins ...
Vassiliki Lazou, Harrison, David J, Schirmer, Eric C, David J Harrison, Zuleger, Nikolaj, de Las Heras, Jose I, Wendy A Bickmore, Dzmitry G Batrakou, Lazou, Vassiliki, Batrakou, Dzmitry G, Jose I de las Heras, Bickmore, Wendy A, Nikolaj Zuleger, Shelagh Boyle, Kelly, David A, Korfali, Nadia, Nadia Korfali, Glenn E Morris, Eric C Schirmer, Boyle, Shelagh, David A Kelly, K Natalie Randles, Randles, K Natalie, Morris, Glenn E   +23 more
core   +1 more source

Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential

FEBS Letters, EarlyView.
Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta, Hari Baskar Balasubramanian, Amir Pasokh, Marietta Zille   +3 more
wiley   +1 more source

Molecular cytotaxonomy of primates by chromosomal in situ suppression hybridization [PDF]

, 1990
A new strategy for analyzing chromosomal evolution in primates is presented using chromosomal in situ suppression (CISS) hybridization. Biotin-labeled DNA libraries from flow-sorted human chromosomes are hybridized to chromosome preparations of ...
Stanyon, Roscoe, Cremer, Thomas, Wienberg, Johannes, Jauch, Anna   +3 more
core   +1 more source

Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics

FEBS Letters, EarlyView.
Proximity‐dependent labeling at the LAMTOR complex revealed the Rho GEF PLEKHG3 as a lysosome‐proximal protein directing the study toward the influence of lysosome positioning on actin dynamics and cell motility. We show that PLEKHG3 colocalizes with lysosomes at focal adhesion sites and observe that forced peripheral dispersion of lysosomes hinders ...
Rainer Ettelt, Ana‐Maria Sandru, Georg Vucak, Sebastian Didusch, Biljana Riemelmoser, Karin Ehrenreiter, Markus Hartl, Lukas A. Huber, Manuela Baccarini   +8 more
wiley   +1 more source

Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla [PDF]

, 1992
The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined ...
Stanyon, Roscoe, Cremer, Thomas, Romagno, D., Wienberg, Johannes, A. Jauch, T. Cremer, Bigoni, F., J. Wienberg, F. Bigoni, D. Romagno, Jauch, Anna, R. Stanyon   +11 more
core   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Chromosome assignment of two cloned DNA probes hybridizing predominantly to human sex chromosomes [PDF]

, 1984
In situ hybridization experiments were carried out with two clones, YACG 35 and 2.8, which had been selected from two genomic libraries strongly enriched for the human Y chromosome.
Back, W., Cremer, Thomas, Rappold, Gudrun A., Cremer, Christoph, Bogenberger, J., Cooke, H. J.   +5 more
core   +1 more source