Results 191 to 200 of about 455,442 (295)

Information on chromosome rearrangements

Fungal Genetics Reports, 1977
D. D. Perkins, E. G. Barry
openaire   +2 more sources

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

Tandem Double Inversion Resolves the Structural Paradox Underlying Recurrent KAT6A::NCOA2 Fusion in Acute Myeloid Leukemia. [PDF]

Genes Chromosomes Cancer
Nagai J, Yoshida S, Teshima T, Onozawa M.   +3 more
europepmc   +1 more source

Phylogenomic analysis of ultraconserved elements clarifies relationships and morphological evolution in Cryptoplacoidea (Mollusca: Polyplacophora)

Cladistics, EarlyView.
Abstract Targeted enrichment of ultraconserved elements (UCEs) is a powerful tool for resolving phylogeny in groups with limited morphological or molecular data. Here, we use UCEs to reconstruct the first comprehensive phylogeny of the chiton superfamily Cryptoplacoidea, including museum material up to 133 years old.
Katarzyna Vončina, Zeyuan Chen, Enrico Schwabe, Anna K. Hundsdoerfer, Julia D. Sigwart   +4 more
wiley   +1 more source

Chromatin Modifications Orchestrate DNA Repair Pathway Choice: Epigenetics Strategies for Enhancing CRISPR–Cas9‐Mediated Knock‐In Efficiency

Cell Proliferation, EarlyView.
Histone modifications at CRISPR–Cas9‐induced DNA double‐strand breaks shape chromatin states and regulate DNA repair pathway choice. Transient epigenetic modulation may provide a promising strategy to enhance CRISPR–Cas9‐mediated gene knock‐in.
Xin Chen, Shan Qin, Ce Yang, Zhiyao Xing, Chong Liu, Xingchen Zhang, Xi Wu, Xueren Li, Yanhua Gong, Zichuan Liu   +9 more
wiley   +1 more source

Characterization of oat chromosome rearrangements in advanced breeding lines and implications for genetic improvement. [PDF]

Theor Appl Genet
Oliveira G, Bekele W, Dariva FD, Bazzer S, Fiedler J, Nandety RS, Jannink JL, Caffe M.   +7 more
europepmc   +1 more source

Complex X chromosome rearrangement associated with multiorgan autoimmunity. [PDF]

Mol Cytogenet, 2015
Haltrich I, Pikó H, Pamjav H, Somogyi A, Völgyi A, David D, Beke A, Garamvölgyi Z, Kiss E, Karcagi V, Fekete G.   +10 more
europepmc   +1 more source

Multifocal Epithelioid Hemangioma With FOSB Overexpression

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Epithelioid hemangioma (EH) is a benign vascular tumor that most commonly arises on the skin but may also occur in other anatomical locations, including deep soft tissue, bone, visceral organs, penis, and mucosal sites. A hallmark of EH is overexpression of FOS and FOSB, often resulting from various gene fusions.
Phuong Daniels, Aarush Kumar, Alexa Lum, Izabelle Bermudez, Shannon DeSilva, Jonathan Crane, Kristopher McKay   +6 more
wiley   +1 more source

Optical genome mapping refines diagnosis of high-grade myeloid neoplasms through detection of MECOM rearrangements cryptic to conventional karyotype. [PDF]

Am J Clin Pathol
Salcedo-Porras N, AlBulushi F, Parlow JNC, McGinnis E, Spence T.   +4 more
europepmc   +1 more source

The utility of the term ‘Rett‐like’ in relation to Rett syndrome: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Our findings show that ‘Rett‐like’ generally describes females with developmental disability, typically with no period of regression. We establish that there is a broad genetic landscape encompassing this disorder. Clinical utility of ‘Rett‐like’ is limited, with inadequate evidence of validity and diagnostic use of ‘Rett‐like’.
Anahita Khot, Daniel E Lumsden
wiley   +1 more source