Results 91 to 100 of about 455,442 (295)

Cancer risk in patients with constitutional chromosome deletions: a nationwide British cohort study [PDF]

, 2008
The finding of increased risks of specific cancers in individuals with constitutional deletions of chromosomes 11p and 13q led to the discovery of cancer predisposition genes at these locations, but there have been no systematic studies of cancer risks ...
Schoemaker, MJ, Jacobs, P.A., Swerdlow, AJ, P A Jacobs, Schoemaker, M.J., Schoemaker, M J, Wright, A F, A F Wright, Wright, AF, A J Swerdlow, Higgins, C.D., Wright, A.F., Swerdlow, A.J., Jacobs, PA, Jacobs, P A, Swerdlow, A J, C D Higgins, Higgins, C D, Higgins, CD, M J Schoemaker   +19 more
core   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Cytomolecular identification of individual wheat-wheat chromosome arm associations in wheat-rye hybrids [PDF]

, 2013
Chromosome pairing in the meiotic metaphase I of wheatrye hybrids has been characterized by sequential genomic and fluorescent in situ hybridization allowing not only the discrimination of wheat and rye chromosomes, but also the identification of the
Megyeri, Mária, Molnár, István, Molnár-Láng, Márta   +2 more
core   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Exceptional Complex Chromosomal Rearrangements in Three Generations

Case Reports in Genetics, 2015
We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on ...
Hannie Kartapradja, Nanis Sacharina Marzuki, Mark D. Pertile, David Francis, Lita Putri Suciati, Helena Woro Anggaratri, Debby Dwi Ambarwati, Firman Prathama Idris, Harry Lesmana, Hidayat Trimarsanto, Chrysantine Paramayuda, Alida Roswita Harahap   +11 more
doaj   +1 more source

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

Molecular Cytogenetics, 2018
Background Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.
Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani   +6 more
doaj   +1 more source

Genome‐wide network analysis identifies the lncRNA‐92467/miR‐205‐5p/PTPRM/CAMs axis in a rat model of hypoxic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
The pathogenesis of hypoxic pulmonary hypertension (HPH) remains unclear. In this study, we explored its key regulatory mechanisms using animal models, RNA sequencing, and cellular assays. We found that lncRNA‐92467 functions as a ceRNA, binding miR‐205‐5p, and thereby upregulating PTPRM, inhibiting abnormal proliferation and migration of endothelial ...
Yan‐Ying Shen, Yi‐Bing Chen, Xin Li, Xiang Xu, Ge Guo, Han‐Lu Li, Yong‐Ming Yao, Chun‐Lei Liu   +7 more
wiley   +1 more source

Recruitment and rejoining of remote double-strand DNA breaks for enhanced and precise chromosome editing

Genome Biology
Chromosomal rearrangements, such as translocations, deletions, and inversions, underlie numerous genetic diseases and cancers, yet precise engineering of these rearrangements remains challenging.
Mingyao Wang, Pengchong Fu, Ziheng Chen, Xiangnan Wang, Hanhui Ma, Xuedi Zhang, Guanjun Gao   +6 more
doaj   +1 more source

Chromosome Rearrangement in <i>Elymus dahuricus</i> Revealed by ND-FISH and Oligo-FISH Painting. [PDF]

Plants (Basel), 2023
Jiang C, Liu X, Yang Z, Li G.
europepmc   +1 more source

Building better yeast

Nature Communications, 2018
The Sc2.0 project has set out to synthesise the Saccharomyces cerevisiae genome, with each chromosome redesigned along agreed principles. In this collection of papers, the researchers involved show how SCRaMbLE—Synthetic Chromosome Rearrangement and ...
doaj   +1 more source