Results 81 to 90 of about 56,644 (246)

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

MET Expression in Upper Gastrointestinal Adenocarcinoma: Prevalence, Prognostic Impact, and Implications for Anti‐MET Antibody‐Drug Conjugate Therapy

International Journal of Cancer, EarlyView.
ABSTRACT MET is an actionable receptor tyrosine kinase, and MET‐directed antibody–drug conjugates (ADCs) have recently entered clinical practice with FDA approval in non‐small cell lung cancer and are now being evaluated across gastrointestinal malignancies, with patient selection based on MET immunohistochemistry (IHC) 3+ membranous staining at ...
Tillmann Bedau, Thomas Zander, Hans Anton Schlößer, Hakan Alakus, Onur Mustafov, Reinhard Büttner, Christiane Bruns, Alexander Quaas   +7 more
wiley   +1 more source

PBRM1 directs PBAF to pericentromeres and protects centromere integrity

Nature Communications
The specialised structure of the centromere is critical for effective chromosome segregation, but its repetitive nature makes it vulnerable to rearrangements.
Karen A. Lane, Alison Harrod, Lillian Wu, Theodoros I. Roumeliotis, Hugang Feng, Shane Foo, Katheryn A. G. Begg, Federica Schiavoni, Noa Amin, Frank T. Zenke, Alan A. Melcher, Jyoti S. Choudhary, Jessica A. Downs   +12 more
doaj   +1 more source

Centromeres [PDF]

Current Biology, 2001
Allshire, Robin, Pidoux, Alison
openaire   +2 more sources

Two near‐complete assemblies reveal R‐subgenome structural and centromeric divergence associated with reproductive isolation in hexaploid triticale

iMeta, EarlyView.
We present two near‐complete triticale genome assemblies and perform pan‐centromere analyses across >200 haplotypes from parental species, synthetic allopolyploids, cultivars, and 337 resequenced accessions, revealing a shared chromatin framework underlying functional centromeres in all three subgenomes, where wheat‐ and rye‐derived CENH3 co‐occupy ...
Yang Liu, Wanna He, Chunhui Wang, Congyang Yi, Tianxin Guo, Congle Zhu, Qian Liu, Fangpu Han   +7 more
wiley   +1 more source

Reconstruction of the kinetochore: a prelude to meiosis

Cell Division, 2007
In eukaryotic organisms, chromosomes are spatially organized within the nucleus. Such nuclear architecture provides a physical framework for the genetic activities of chromosomes, and changes its functional organization as the cell moves through the ...
Haraguchi Tokuko, Asakawa Haruhiko, Hiraoka Yasushi   +2 more
doaj   +1 more source

Characterization of Pulmonary Functional Abnormalities in Systemic Sclerosis Using Xenon MRI

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Xenon MRI is increasingly used to evaluate patients with interstitial lung disease (ILD) and pulmonary hypertension (PH), both of which are common manifestations of systemic sclerosis (SSc). As such, Xe‐MRI may be suited to interrogate lung function impairment in SSc.
Dawson Shaver, Steven Haworth, Evan Graumann, Bradie Frizzell, David H. Lee, Jiwoong Choi, Chase S. Hall, Scott M. Matson, Mark Hamblin, Mario Castro, Paul S. Schmidt, Peter J. Niedbalski   +11 more
wiley   +1 more source

HO Endonuclease-Initiated Recombination in Yeast Meiosis Fails To Promote Homologous Centromere Pairing and Is Not Constrained To Utilize the Dmc1 Recombinase

G3: Genes, Genomes, Genetics, 2018
Crossover recombination during meiosis is accompanied by a dramatic chromosome reorganization. In Saccharomyces cerevisiae, the onset of meiotic recombination by the Spo11 transesterase leads to stable pairwise associations between previously ...
Lina Yisehak, Amy J. MacQueen
doaj   +1 more source

Routine MDM2 FISH Testing and Preoperative Biopsy Reduces Recurrence Rate of Atypical Lipomatous Tumours

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background Although MDM2 FISH test has been increasingly used to differentiate ALT and benign lipomatous tumours, its impact on clinical outcome remains underexplored. This study investigated whether routine MDM2 FISH testing on preoperative biopsy is associated with a reduction in the recurrence risk of ALT.
Samuel O. H. Ching, Anderson S. M. Leung, Raymond C. H. Yau, Albert Y. L. Lam, Tony W. H. Shek, Maximus C. F. Yeung   +5 more
wiley   +1 more source

A Refractory Leg Skin Ulcer Associated With Multiple Myeloma Successfully Treated With Plasma Exchange, Lenalidomide, and Dexamethasone

JEADV Clinical Practice, EarlyView.
ABSTRACT Multiple myeloma (MM) is a malignant plasma cell disorder that primarily presents with CRAB symptoms (calcium elevation, renal failure, anemia, and bone abnormalities). In rare cases, MM manifests with systemic complications like skin ulcers, which present management challenges. Here, we report a 78‐year‐old Japanese man with MM and refractory
Naoko Hattori, Yutaka Kuwatsuka, Tomoka Waseda, Daisuke Ehara, Koji Ando, Hiroyuki Murota   +5 more
wiley   +1 more source