Results 111 to 120 of about 26,352 (303)

Inferring Latent States and Refining Force Estimates via Hierarchical Dirichlet Process Modeling in Single Particle Tracking Experiments [PDF]

, 2015
Optical microscopy provides rich spatio-temporal information characterizing in vivo molecular motion. However, effective forces and other parameters used to summarize molecular motion change over time in live cells due to latent state changes, e.g., changes induced by dynamic micro-environments, photobleaching, and other heterogeneity inherent in ...
arxiv   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia

Clinical Genetics, Volume 103, Issue 1, Page 45-52, January 2023., 2023
We describe the first patient with biallelic loss‐of‐function variants in the SLC13A1 gene, encoding a renal and intestinal sulfate transporter. The consequential loss of renal sulfate reabsorption leads to hypersulfaturia and hyposulfatemia which is associated with a mild Spondylo‐Epi‐Metaphyseal skeletal Dysplasia. Abstract Sulfate is the fourth most
Jiddeke M. van de Kamp, Arend Bökenkamp, Desiree E. C. Smith, Mirjam M. C. Wamelink, Erwin E. W. Jansen, Eduard A. Struys, Quinten Waisfisz, Marieke Verkleij, Michaela F. Hartmann, Rong Wang, Stefan A. Wudy, Chiara Paganini, Antonio Rossi, Martijn J. J. Finken   +13 more
wiley   +1 more source

A time out for CENP-A

Molecular & Cellular Oncology, 2017
Proper chromosome segregation relies on a functional centromere–kinetochore interface. We showed that chromatin containing CENtromere Protein A (CENP-A) is essential for centromere assembly, but dispensable for chromosome segregation in the presence of ...
S. Hoffmann, D. Fachinetti
doaj   +1 more source

α-amino trimethylation of CENP-A by NRMT is required for full recruitment of the centromere

Nature Communications, 2017
Centromeres are unique chromosomal domains that control chromosome segregation, and are epigenetically specified by the presence of the CENP-A containing nucleosomes. CENP-A governs centromere function by recruiting the constitutive centromere associated
K. Sathyan, D. Fachinetti, D. Foltz
semanticscholar   +1 more source

Centromere Emergence in Evolution [PDF]

Genome Research, 2001
Evolutionary centromere repositioning is a paradox we have recently discovered while studying the conservation of the phylogenetic chromosome IX in primates. Two explanations were proposed: a conservative hypothesis assuming sequential pericentric inversions, and a more challenging assumption involving centromere emergence during evolution. The complex
VENTURA, MARIO, ARCHIDIACONO, Nicoletta, ROCCHI, Mariano   +2 more
openaire   +4 more sources

Centromere reference models for human chromosomes X and Y satellite arrays [PDF]

arXiv, 2013
The human genome remains incomplete, with multi-megabase sized gaps representing the endogenous centromeres and other heterochromatic regions. These regions are commonly enriched with long arrays of near-identical tandem repeats, known as satellite DNAs, that offer a limited number of variant sites to differentiate individual repeat copies across ...
arxiv  

Looping and Clustering model for the organization of protein-DNA complexes on the bacterial genome [PDF]

, 2017
The bacterial genome is organized in a structure called the nucleoid by a variety of associated proteins. These proteins can form complexes on DNA that play a central role in various biological processes, including chromosome segregation. A prominent example is the large ParB-DNA complex, which forms an essential component of the segregation machinery ...
arxiv   +1 more source

De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy

Clinical Genetics, Volume 103, Issue 2, Page 242-246, February 2023., 2023
Abstract Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the deletion of an integral number of 3.3 kb units of the polymorphic D4Z4 repeat array at 4q35. The prenatal identification of this defect can be carried out on chorionic villi or amniocytes, whereas preimplantation genetic testing for monogenic disorders (PGT‐M) requires ...
Sara Pini, Floriana Maria Napoli, Enrico Tagliafico, Antonio La Marca, Emma Bertucci, Valentina Salsi, Rossella Tupler   +6 more
wiley   +1 more source

The budding yeast Centromere DNA Element II wraps a stable Cse4 hemisome in either orientation in vivo

eLife, 2014
In budding yeast, a single cenH3 (Cse4) nucleosome occupies the ∼120-bp functional centromere, however conflicting structural models for the particle have been proposed. To resolve this controversy, we have applied H4S47C-anchored cleavage mapping, which
Steven Henikoff, Srinivas Ramachandran, Kristina Krassovsky, Terri D Bryson, Christine A Codomo, Kristin Brogaard, Jonathan Widom, Ji-Ping Wang, Jorja G Henikoff   +8 more
doaj   +1 more source