[HTML][HTML] Early-onset stroke and vasculopathy associated with mutations in ADA2

…, SM Burgess, SL Moir, M Gadina, R Sood… - … England Journal of …, 2014 - Mass Medical Soc
Background We observed a syndrome of intermittent fevers, early-onset lacunar strokes and
other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic …

Evidence for a prostate cancer susceptibility locus on the X chromosome.

…, A Baffoe-Bonnie, A Van Aucken, R Sood… - Nature …, 1998 - nature.com
Over 200,000 new prostate cancer cases are diagnosed in the United States each year,
accounting for more than 35% of all cancer cases affecting men, and resulting in 40,000 deaths …

[PDF][PDF] Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2

…, L Garrett, MA English, P Andre, J Robinson, R Sood… - Developmental cell, 2011 - cell.com
It is fundamentally important that signaling gradients provide positional information to govern
morphogenesis of multicellular organisms. Morphogen gradients can generate different cell …

High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9

…, SC Huang, A Prakash, W Chen, R Sood… - Genome …, 2015 - genome.cshlp.org
The use of CRISPR/Cas9 as a genome-editing tool in various model organisms has radically
changed targeted mutagenesis. Here, we present a high-throughput targeted mutagenesis …

CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome

…, JK Herd, J Ihle, C Williams, M Johnson, V Raman… - Nature …, 1999 - nature.com
Altered growth and function of synoviocytes, the intimal cells which line joint cavities and
tendon sheaths, occur in a number of skeletal diseases 1. Hyperplasia of synoviocytes is found …

Familial Mediterranean fever at the millennium clinical spectrum, ancient mutations, and a survey of 100 American referrals to the national institutes of health

…, Y Torosyan, M Centola, Z Deng, R Sood… - Medicine, 1998 - journals.lww.com
Familial Mediterranean Fever at the Millennium Clinical Spec... : Medicine Familial
Mediterranean Fever at the Millennium Clinical Spectrum, Ancient Mutations, and a Survey of 100 …

Role of RUNX1 in hematological malignancies

R Sood, Y Kamikubo, P Liu - … Journal of the American Society of …, 2017 - ashpublications.org
RUNX1 is a member of the core-binding factor family of transcription factors and is indispensable
for the establishment of definitive hematopoiesis in vertebrates. RUNX1 is one of the …

Melanoma mouse model implicates metabotropic glutamate signaling in melanocytic neoplasia

PM Pollock, K Cohen-Solal, R Sood, J Namkoong… - Nature …, 2003 - nature.com
To gain insight into melanoma pathogenesis, we characterized an insertional mouse mutant,
TG3, that is predisposed to develop multiple melanomas 1 , 2 . Physical mapping identified …

Human SHPRH suppresses genomic instability through proliferating cell nuclear antigen polyubiquitination

A Motegi, R Sood, H Moinova, SD Markowitz… - The Journal of cell …, 2006 - rupress.org
Differential modifications of proliferating cell nuclear antigen (PCNA) determine DNA repair
pathways at stalled replication forks. In yeast, PCNA monoubiquitination by the ubiquitin …

A high-throughput functional genomics workflow based on CRISPR/Cas9-mediated targeted mutagenesis in zebrafish

…, C Fan, L Xu, M Jones, MC LaFave, J Ledin, R Sood… - Nature protocols, 2016 - nature.com
The zebrafish is a popular model organism for studying development and disease, and
genetically modified zebrafish provide an essential tool for functional genomic studies. …