Search Results - "Paluru, Prasuna"
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1
Clonal genetic and hematopoietic heterogeneity among human-induced pluripotent stem cell lines
Published in Blood (19-09-2013)“…Induced pluripotent stem cells (iPSCs) hold great promise for modeling human hematopoietic diseases. However, intrinsic variability in the capacities of…”
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Hematopoietic differentiation of pluripotent stem cells in culture
Published in Methods in molecular biology (Clifton, N.J.) (01-01-2014)“…This chapter describes a two-dimensional "monolayer" system for differentiating human pluripotent stem cells (PSCs) into "primitive" hematopoietic progenitor…”
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3
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle
Published in American journal of medical genetics. Part A (01-04-2013)“…Disease causing mutations for heterotaxy syndrome were first identified in the X‐linked laterality gene, ZIC3. Mutations typically result in males with situs…”
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Identification of a Novel Locus on 2q for Autosomal Dominant High-Grade Myopia
Published in Investigative ophthalmology & visual science (01-07-2005)“…Myopia, or nearsightedness, is a visual disorder of high and growing prevalence in the United States and in other countries. Pathologic high myopia, or myopia…”
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5
Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota
Published in Molecular vision (15-02-2007)“…Myopia is a common, complex disorder, and severe forms have implications for blindness due to increased risk of premature cataracts, glaucoma, retinal…”
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6
The negative impact of Wnt signaling on megakaryocyte and primitive erythroid progenitors derived from human embryonic stem cells
Published in Stem cell research (01-03-2014)“…The Wnt gene family consists of structurally related genes encoding secreted signaling molecules that have been implicated in many developmental processes,…”
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Sequence variants in the transforming growth β-induced factor (TGIF) gene are not associated with high myopia
Published in Investigative ophthalmology & visual science (01-07-2004)“…High myopia is a common complex-trait eye disorder, with implications for blindness due to increased risk of retinal detachment, macular degeneration,…”
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Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia
Published in Molecular vision (30-11-2004)“…The proteoglycans lumican and fibromodulin regulate collagen fibril assembly and show expression in ocular tissues. A recent mouse knockout study implicates…”
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9
Microarray analysis of gene expression in human donor sclera
Published in Molecular vision (22-03-2004)“…To develop gene expression profiles of human sclera to allow for the identification of novel, uncharacterized genes in this tissue-type, and to identify…”
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10
Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes
Published in Molecular vision (02-02-2005)“…Myopia is a common complex eye disorder, with implications for blindness due to increased risk of retinal detachment, chorioretinal degeneration, premature…”
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11
Patient-derived induced pluripotent stem cells recapitulate hematopoietic abnormalities of juvenile myelomonocytic leukemia
Published in Blood (13-06-2013)“…Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloproliferative neoplasm of young children initiated by mutations that deregulate cytokine receptor…”
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MicroRNA Screen of Human Embryonic Stem Cell Differentiation Reveals miR‐105 as an Enhancer of Megakaryopoiesis from Adult CD34+ Cells
Published in Stem cells (Dayton, Ohio) (01-05-2014)“…MicroRNAs (miRNAs) can control stem cell differentiation by targeting mRNAs. Using 96‐well plate electroporation, we screened 466 human miRNA mimics by…”
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13
X-linked high myopia associated with cone dysfunction
Published in Archives of ophthalmology (1960) (01-06-2004)“…Bornholm eye disease (BED) consists of X-linked high myopia, high cylinder, optic nerve hypoplasia, reduced electroretinographic flicker with abnormal photopic…”
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14
High-level transgene expression in induced pluripotent stem cell–derived megakaryocytes: correction of Glanzmann thrombasthenia
Published in Blood (30-01-2014)“…Megakaryocyte-specific transgene expression in patient-derived induced pluripotent stem cells (iPSCs) offers a new approach to study and potentially treat…”
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15
Mutations in NTRK3 Suggest a Novel Signaling Pathway in Human Congenital Heart Disease
Published in Human mutation (01-12-2014)“…ABSTRACT Congenital heart defects (CHDs) are the most common major birth defects and the leading cause of death from congenital malformations. The etiology…”
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16
Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies
Published in Congenital heart disease (01-11-2011)“…Multiple genetic syndromes are caused by recurrent chromosomal microdeletions or microduplications. The increasing use of high-resolution microarrays in…”
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Insights Into Thrombopoiesis From Infused Human Megakaryocytes Into Mice
Published in Blood (15-11-2013)“…Thrombopoiesis is the process by which megakaryocytes (Megs) release platelets (Plts), but issues remain as to the detailed in vivo mechanisms underlying this…”
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Abstract 17979: A Subset of Patients with Isolated Transposition of the Great Arteries and Double Outlet Right Ventricle Fall Within the Spectrum of Heterotaxy Syndrome
Published in Circulation (New York, N.Y.) (22-11-2011)“…Abstract only Background: Heterotaxy is a rare disorder of laterality. ZIC3 was the first gene in which human disease-causing mutations were identified…”
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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing
Published in Investigative ophthalmology & visual science (29-08-2011)“…Myopia is a common vision problem affecting almost one third of the world's population. It can occur as an isolated genetic condition or be associated with…”
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20
New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17
Published in Investigative ophthalmology & visual science (01-05-2003)“…To map the gene(s) associated with autosomal dominant (AD) high-grade myopia. A multigeneration English/Canadian family with AD severe myopia was ascertained…”
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