Perciliz L. Tan
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View article: Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies
Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies Open
The ciliopathies are a group of phenotypically overlapping disorders caused by structural or functional defects in the primary cilium. Although disruption of numerous signaling pathways and cellular trafficking events have been implicated …
View article: Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome
Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome Open
View article: Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility Open
View article: Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in<i>UNC45A</i>
Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in<i>UNC45A</i> Open
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied four affected people in three families presenting with c…
View article: Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability Open
View article: RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes Open
View article: Systematic Functional Testing of Rare Variants: Contributions of <i>CFI</i> to Age-Related Macular Degeneration
Systematic Functional Testing of Rare Variants: Contributions of <i>CFI</i> to Age-Related Macular Degeneration Open
Taken together, our data argue that multiple rare and ultra-rare alleles in CFI contribute to AMD pathogenesis; they improve the precision of the assessment of the contribution of CFI to AMD; and they offer a rational route to establishing…
View article: AMD and the alternative complement pathway: genetics and functional implications
AMD and the alternative complement pathway: genetics and functional implications Open
Age-related macular degeneration (AMD) is an ocular neurodegenerative disorder and is the leading cause of legal blindness in Western societies, with a prevalence of up to 8 % over the age of 60, which continues to increase with age. AMD i…
View article: Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling Open
View article: <i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies
<i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies Open
RNA polymerase III (Pol III) synthesizes tRNAs and other small noncoding RNAs to regulate protein synthesis. Dysregulation of Pol III transcription has been linked to cancer, and germline mutations in genes encoding Pol III subunits or tRN…