User profiles for Navneet Matharu
 | Navneet MatharuUCSF Verified email at ucsf.edu Cited by 747 |
CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency
N Matharu, S Rattanasopha, S Tamura, L Maliskova… - Science, 2019 - science.org
INTRODUCTION Loss-of-function mutations in one gene copy can lead to reduced amounts
of protein and, consequently, human disease, a condition termed haploinsufficiency. It is …
of protein and, consequently, human disease, a condition termed haploinsufficiency. It is …
Oestrogen engages brain MC4R signalling to drive physical activity in female mice
WC Krause, R Rodriguez, B Gegenhuber, N Matharu… - Nature, 2021 - nature.com
Oestrogen depletion in rodents and humans leads to inactivity, fat accumulation and diabetes
1 , 2 , underscoring the conserved metabolic benefits of oestrogen that inevitably decrease …
1 , 2 , underscoring the conserved metabolic benefits of oestrogen that inevitably decrease …
[HTML][HTML] Minor loops in major folds: enhancer–promoter looping, chromatin restructuring, and their association with transcriptional regulation and disease
The organization and folding of chromatin within the nucleus can determine the outcome of
gene expression. Recent technological advancements have enabled us to study chromatin …
gene expression. Recent technological advancements have enabled us to study chromatin …
Modulating gene regulation to treat genetic disorders
Over a thousand diseases are caused by mutations that alter gene expression levels. The
potential of nuclease-deficient zinc fingers, TALEs or CRISPR fusion systems to treat these …
potential of nuclease-deficient zinc fingers, TALEs or CRISPR fusion systems to treat these …
Toward a neurospheroid niche model: Optimizing embedded 3D bioprinting for fabrication of neurospheroid brain-like co-culture constructs
A crucial step in creating reliable in vitro platforms for neural development and disorder
studies is the reproduction of the multicellular three-dimensional (3D) brain microenvironment …
studies is the reproduction of the multicellular three-dimensional (3D) brain microenvironment …
Vertebrate homologue of Drosophila GAGA factor
Polycomb group (PcG) and trithorax group (trxG) proteins are chromatin-mediated
regulators of a number of developmentally important genes including the homeotic genes. In …
regulators of a number of developmentally important genes including the homeotic genes. In …
Genetic variation in the SIM1 locus is associated with erectile dysfunction
Erectile dysfunction affects millions of men worldwide. Twin studies support the role of
genetic risk factors underlying erectile dysfunction, but no specific genetic variants have been …
genetic risk factors underlying erectile dysfunction, but no specific genetic variants have been …
CRISPR activation rescues abnormalities in SCN2A haploinsufficiency-associated autism spectrum disorder
The majority of autism spectrum disorder (ASD) risk genes are associated with ASD due to
haploinsufficiency, where only one gene copy is functional. Here, using SCN2A …
haploinsufficiency, where only one gene copy is functional. Here, using SCN2A …
Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation
…, WL Eckalbar, Y Wang, KK Murphy, N Matharu… - Nature …, 2019 - nature.com
Genome-wide association studies in obesity have identified a large number of non-coding
loci located near genes expressed in the central nervous system. However, due to the …
loci located near genes expressed in the central nervous system. However, due to the …
[HTML][HTML] Transcriptomic mapping of neural diversity, differentiation and functional trajectory in ipsc-derived 3d brain organoid models
Experimental models of the central nervous system (CNS) are imperative for developmental
and pathophysiological studies of neurological diseases. Among these models, three-…
and pathophysiological studies of neurological diseases. Among these models, three-…