Results 71 to 80 of about 48,766 (300)

Preferential expression of the transcription coactivator HTIF1alpha gene in acute myeloid leukemia and MDS-related AML [PDF]

, 2002
HTIF1α, a transcription coactivator which is able to mediate RARα activity and functionally interact with PML, is encoded by a gene on chromosome 7q32–34, which is a critical region in acute myeloid leukemias (AML). With the assumption that this gene may
AGUIARI, Gianluca, CASTOLDI, GL, CUNEO, Antonio, DE ANGELI, C, DEL SENNO, Laura, GANDINI, D, LANZA, F, MANZATI, E, PANDOLFI, PP   +8 more
core   +1 more source

Clinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex

American Journal of Hematology, EarlyView.
ABSTRACT The epidemiology of myelodysplastic syndromes/neoplasms (MDS) is challenging to define due to inconsistent reporting, complex diagnostic procedures, and evolving diagnostic criteria. Using the National MDS Natural History Study—a prospective cohort with centrally adjudicated histopathology and genetic variant review—we characterized the ...
Nancy Gillis, Christelle Colin‐Leitzinger, Yi‐Han Tang, Michael Otterstatter, Seth Sherman, Ling Zhang, Lynn C. Moscinski, Mary Ellen Walker, Jeffrey S. Painter, Gregory A. Abel, Tareq Al Baghdadi, H. Joachim Deeg, James M. Foran, Steven D. Gore, Alexandra M. Harrington, Steven H. Kroft, Jane Jijun Liu, Wael Saber, Shamsuddin Virani, Rafael Bejar, R. Coleman Lindsley, Eric Padron, Matthew J. Walter, Rami Komrokji, Amy E. DeZern, Mikkael A. Sekeres   +25 more
wiley   +1 more source

9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndrome [PDF]

, 2019
The increased use of chromosomal microarray analysis has led to the identification of new microdeletion/microduplication syndromes, enabling better genotype-phenotype correlations.
Correia, Hildeberto, Ferreira, Cristina, Gonçalves, Rui, Marques, Barbara, Pedro, Sonia, Serafim, Silvia, Tarelho, Ana Rita   +6 more
core   +1 more source

Dissecting Pirtobrutinib Resistance in Mantle Cell Lymphoma Through Single‐Cell Multi‐Omics

American Journal of Hematology, EarlyView.
ABSTRACT Pirtobrutinib (PBN), a non‐covalent BTK inhibitor, has been approved by the FDA for relapsed/refractory mantle cell lymphoma (MCL); however, resistance to PBN has been observed. To dissect the molecular dynamics driving PBN resistance, we performed integrative single‐cell multi‐omic profiling (scRNA‐seq, scATAC‐seq, and scDNA‐seq) on ...
Fangfang Yan, Yang Liu, Heng‐Huan Lee, Wei Wang, Joseph McIntosh, Yijing Li, Jovanny Vargas, Yue Fei, Sairah Ahmed, Lukas M. Simon, Michael Wang   +10 more
wiley   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Generation of New Genotypic and Phenotypic Features in Artificial and Natural Yeast Hybrids

Food Technology and Biotechnology, 2014
Evolution and genome stabilization have mostly been studied on the Saccharomyces hybrids isolated from natural and alcoholic fermentation environments. Genetic and phenotypic properties have usually been compared to the laboratory and reference strains ...
Walter P. Pfliegler, Lea Atanasova, Edina Karanyicz, Matthias Sipiczki, Ursula Bond, Irina S. Druzhinina, Katja Sterflinger, Ksenija Lopandic   +7 more
doaj  

Non-lethal method for the preparation of metaphase spreads using cultured mantle tissue from live adult abalone

BioTechniques, 2018
Metaphase spread preparation in adult abalone has not been successful, which has restricted the applications of karyotyping-based technologies. Here, we present a non-lethal method to enable preparation of metaphase spreads from live adult abalone using ...
Jun Hyung Ryu, Sang Yoon Lee, Yoon Kwon Nam, Seung Pyo Gong   +3 more
doaj   +1 more source

Karyotyping and localization of genes on the chromosomes of the sea urchins, Strongylocentrotus drobachiensis and Strongylocentrotus purpuratus [PDF]

, 2009
The purple sea urchin, Strongylocentrotus purpuratus , is an important model for probing gene interactions during animal development and is the only non-chordate deuterostome for which a complete genome sequence is available.
Eno, Celeste Chloe
core   +2 more sources

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities [PDF]

, 2012
Background: We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results. From
Malgorzata I Srebniak, Marjan Boter, Gretel O Oudesluijs, Titia Cohen-Overbeek, Lutgarde CP Govaerts, Karin EM Diderich, Renske Oegema, Maarten FCM Knapen, Ingrid MBH van de Laar, Marieke Joosten, Diane Van Opstal, Robert-Jan H Galjaard   +11 more
core   +3 more sources

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source