Results 71 to 80 of about 861,603 (331)

X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature

open access: yesGazi Medical Journal
Pericentric inversions arise from double breaks on opposite arms of the chromosome, followed by 180° rotation and reintegration of the broken segment. Carriers of an inversion are mostly phenotypically healthy.
Emine Göktaş   +3 more
doaj   +1 more source

The X chromosome and sex-specific effects in infectious disease susceptibility

open access: yesHuman Genomics, 2019
The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome.
Haiko Schurz   +5 more
doaj   +1 more source

Who’s afraid of the X? Incorporating the X and Y chromosomes into the analysis of DNA methylation array data

open access: yesEpigenetics & Chromatin, 2023
Background Many human disease phenotypes manifest differently by sex, making the development of methods for incorporating X and Y-chromosome data into analyses vital.
Amy M. Inkster   +4 more
doaj   +1 more source

Depletion of ATP-citrate lyase (ATPCL) affects chromosome integrity without altering histone acetylation in Drosophila mitotic cells [PDF]

open access: yes, 2019
The Citrate Lyase (ACL) is the main cytosolic enzyme that converts the citrate exported from mitochondria by the SLC25A1 carrier in Acetyl Coenzyme A (acetyl-CoA) and oxaloacetate.
CENCI, GIOVANNI   +6 more
core   +2 more sources

MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

open access: yesMolecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin   +14 more
wiley   +1 more source

LPS resistance of SPRET/Ei mice is mediated by Gilz, encoded by the Tsc22d3 gene on the X chromosome [PDF]

open access: yes, 2013
Natural variation for LPS-induced lethal inflammation in mice is useful for identifying new genes that regulate sepsis, which could form the basis for novel therapies for systemic inflammation in humans.
Beaulieu E   +12 more
core   +2 more sources

Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM

open access: yesMolecular Oncology, EarlyView.
CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak   +14 more
wiley   +1 more source

Hexavalents in spermatocytes of Robertsonian heterozygotes between Mus m. domesticus 2n 26 from the Vulcano and Lipari Islands (Aeolian Archipelago, Italy) [PDF]

open access: yes, 2018
The size and shape of the chromosomes, as well as the chromosomal domains that compose them, are determinants in the distribution and interaction between the bivalents within the nucleus of spermatocytes in prophase I of meiosis.
Eliana Ayarza   +6 more
core   +3 more sources

Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma

open access: yesMolecular Oncology, EarlyView.
This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu   +15 more
wiley   +1 more source

Inferring the three-dimensional structures of the X-chromosome during X-inactivation

open access: yesMathematical Biosciences and Engineering, 2019
The Hi-C experiment can capture the genome-wide spatial proximities of the DNA, based on which it is possible to computationally reconstruct the three-dimensional (3D) structures of chromosomes.
Hao Zhu   +4 more
doaj   +1 more source

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