Results 61 to 70 of about 287,317 (259)
ChildrenChromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4–1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental ...
Rosie Lee +5 more
doaj +1 more source
Persistent Fifth Aortic Arch Associated with 22q11.2 Deletion Syndrome
Journal of the Formosan Medical Association, 2006 Chromosome 22q11.2 deletion is frequently associated with conotruncal malformations and aortic arch anomalies. This study investigated the association of chromosome 22q11.2 deletion with clinical manifestations in four pediatric patients with persistent ...
Meng-Luen Lee
doaj +1 more source
Klinefelter syndrome with long-arm X-chromosome deletion. [PDF]
Adv Lab Med, 2022 Escribano Hernández V +2 more
europepmc +1 more source
Dual native G‐quadruplex folding is associated with chromatin looping at the MYC locus
FEBS Open Bio, EarlyView.BG4‐detectable G‐quadruplex (G4) in HaCaT and NHEK keratinocytes identified folded and unfolded G4s enriched at promoters/TSSs and active enhancers, whereas unfolded G4s also overlapped weak/poised enhancers. At MYC–PVT1, 3C‐qPCR detected enhancer–promoter looping only when G4s were simultaneously folded at both regulatory elements under native ...
Dieila Giomo de Lima +7 more
wiley +1 more source
Aging Is a Key Driver for Adult Acute Myeloid Leukemia
Aging and Cancer, EarlyView.Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley +1 more source
Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome
Case Reports in Obstetrics and Gynecology, 2016 Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause
Sarah L. Pachtman +2 more
doaj +1 more source
Generation of sex-reversed female clonal mice via CRISPR/Cas9-mediated Y chromosome deletion in male embryonic stem cells. [PDF]
Methods Cell Biol, 2022 Qin Y, Geng F, Wen D.
europepmc +1 more source
Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance
Aging and Cancer, EarlyView.NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang +3 more
wiley +1 more source
Pediatrics and Neonatology, 2011 Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We describe
Pen-Hua Su +5 more
doaj +1 more source
Metabolomic and lipidomic characterization of an X-chromosome deletion disorder in neural progenitor cells by UHPLC-HRMS. [PDF]
J Mass Spectrom Adv Clin Lab, 2021 Yazd HS +4 more
europepmc +1 more source