Engineered Transformer Base Editor with Enhanced Editing Efficiency
Advanced Science, EarlyView.A highly efficient transformer base editor system achieves robust genomic editing in a humanized mouse model. This work establishes a versatile and translatable platform, opening new avenues for precision gene therapy. ABSTRACT Canonical cytosine base editors (CBEs) achieve precise C‐to‐T conversions without inducing DNA double‐strand breaks (DSBs ...
Bowen Chen +5 more
wiley +1 more source
CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome
Advanced Science, EarlyView.By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen +11 more
wiley +1 more source
Investigating the Vinblastine Induced-Chromosomal Abnormality in the Already Gamma Irradiated L929 Cell Line Using Micronucleus Assay in Cytokinesis Blocked Binucleated Cells [PDF]
Asian Pac J Cancer Prev, 2019 Mohammadi Z +3 more
europepmc +1 more source
, 1997 Cytogenetic analysis of bone marrow cells from a patient with myelodysplastic syndrome associated with eosinophilia showed a complex translocation with a 46,XY,t(2;18;2)(p23;q11;q32) karyotype The patient has refractory anemia (RA) according to the ...
Viniou, N +8 more
core
American Journal of Botany, EarlyView.Abstract Premise The origin of endemic species in the European Alps is commonly attributed to the climatic oscillations of the Quaternary. Moehringia sect. Moehringia, with 12 of 15 species endemic to the Alps and mostly restricted to well‐known glacial refugia, is a prime system for investigating the diversification of a lineage originating in the ...
Joachim W. Kadereit +4 more
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Case report: CD8 positive T-cell Prolymphocytic Leukemia presenting complex karyotype with a rare chromosomal abnormality der(2)t(1;2)(q21;q37) and additional signals of the genes MYC, IGH, and TP53. [PDF]
Hematol Transfus Cell TherJamur VR +3 more
europepmc +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age. [PDF]
Obstet Gynecol Sci, 2018 Kim SM +6 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source