Results 81 to 90 of about 462,672 (344)
BMC Gastroenterology, 2009 Background This study evaluates the existence of numerical alterations of chromosome 17 and TP53 gene deletion in gastric adenocarcinoma. The p53 protein expression was also evaluated, as well as, possible associations with clinicopathological ...
Demachki Samia +11 more
doaj +1 more source
RoundMi: A quantitative method to analyze mitochondrial morphology in mitotic cells
FEBS Open Bio, EarlyView.RoundMi is a workflow for rapid analysis of mitochondrial morphology in mitotic cells. By combining adaptive preprocessing with automated segmentation and quantification, it enables accurate measurements from single focal plane images, reducing acquisition time and computational demands while remaining compatible with high‐throughput fixed and live ...
Elmira Parvindokht Bararpour +2 more
wiley +1 more source
Generate an AZFa deleted human embryonic stem cell line
Stem Cell ResearchY chromosome deletion and karyotype abnormalities are commonly associated with congenital non-obstructive azoospermia, impairing spermatogenesis. Specifically, the deletion of the Y chromosome Azoospermia factor a (AZFa) has been identified in infertile ...
Yuting Zhen +5 more
doaj +1 more source
FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
Медицинская иммунология, 2017 The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. Their mother carries the same chromosome anomaly, but with apparently normal phenotype.
I. A. Tuzankina +3 more
doaj +1 more source
CLEVER: Clique-Enumerating Variant Finder [PDF]
, 2012 Next-generation sequencing techniques have facilitated a large scale analysis of human genetic variation. Despite the advances in sequencing speeds, the computational discovery of structural variants is not yet standard.
Bauer, Markus +6 more
core +3 more sources
Mouse chromosomal deletions [PDF]
Genome Biology, 2000 Mouse chromosomes carrying deletions have been produced using a combination of targeted and random integration of selectable markers followed by specific excision by a recombinase.
openaire +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
Inv dup del(10p): Prenatal diagnosis and molecular cytogenetic characterization
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: We present molecular cytogenetic characterization of prenatally detected inverted duplication and deletion of 10p [inv dup del(10p)]. Case report: A 39-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of ...
Chih-Ping Chen +8 more
doaj +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