Triplet Repeat Instability in Human iPSCs
Over twenty human genetic diseases are caused by expansion of simple DNA sequences composed of repeats of three nucleotides (such as CAG, CTG, CGG and GAA) within essential genes. These…
Neural and general splicing factors control self-renewal, neural survival and differentiation
Human embryonic and patient-specific induced pluripotent stem cells have the remarkable capacity to differentiate into many cell-types, including neurons, thus enabling the modeling of human neurological diseases in vitro, and…
Mechanisms of Direct Cardiac Reprogramming
Heart disease is a leading cause of adult and childhood mortality. The underlying pathology is typically loss of heart muscle cells that leads to heart failure, or improper development of…
Elucidating Molecular Basis of Hypertrophic Cardiomyopathy with Human Induced Pluripotent Stem Cells
Familial hypertrophic cardiomyopathy (HCM) is the leading cause of sudden cardiac death in young people, including trained athletes, and is the most common inherited heart defect. Until now, studies in…
Characterization and Engineering of the Cardiac Stem Cell Niche
Despite therapeutic advances, cardiovascular disease remains a leading cause of mortality and morbidity in both California and Europe. New insights into disease pathology, models to expedite in vitro testing and…
USP16 controls stem cell number: implications for Down Syndrome
Stem cells are endowed with the ability to self-renew, that means to give rise to other cells with the same potential to regenerate a tissue. Recently, we found a gene…
Genomic instability during culturing of human embryonic stem cells
Human embryonic stem cells (hESCs) have important potential in the treatment of human disease. Because they can change into a large number of different cell types, they may be useful…
Generation and characterization of corticospinal neurons from human embryonic stem cells
A major goal of stem cell research is to generate various functional human cell types that can be used to better understand how these cells work and to use them…
Enhancer-mediated gene regulation during early human embryonic development
Less than 2% of the human genome encodes protein coding genes. But many trait-specific and disease specific mutations seem to map away from such coding sequences. This paradox is partially…
Molecular Mechanisms Underlying Human Cardiac Cell Junction Maturation and Disease Using Human iPSC
Heart disease is the number one cause of death and disability in California and in the United States. Especially devastating is Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), an inherited form of…
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