Genome folding through loop extrusion by SMC complexes
IF Davidson, JM Peters - Nature reviews Molecular cell biology, 2021 - nature.com
Genomic DNA is folded into loops and topologically associating domains (TADs), which
serve important structural and regulatory roles. It has been proposed that these genomic …
serve important structural and regulatory roles. It has been proposed that these genomic …
A review of anterior segment dysgeneses
F Idrees, D Vaideanu, SG Fraser, JC Sowden… - Survey of …, 2006 - Elsevier
The anterior segment dysgeneses are an ill-defined group of ocular developmental
abnormalities that share some common features and have a high prevalence of glaucoma …
abnormalities that share some common features and have a high prevalence of glaucoma …
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms
M Kaur, J Blair, B Devkota, S Fortunato… - American Journal of …, 2023 - Wiley Online Library
Abstract Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem
developmental disorder characterized by highly variable manifestations of growth and …
developmental disorder characterized by highly variable manifestations of growth and …
A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease
Kawasaki disease (KD) is a pediatric vasculitis that damages the coronary arteries in 25% of
untreated and approximately 5% of treated children. Epidemiologic data suggest that KD is …
untreated and approximately 5% of treated children. Epidemiologic data suggest that KD is …
Genetics of Kawasaki Disease–What We Know and Don't Know–
Y Onouchi - Circulation Journal, 2012 - jstage.jst.go.jp
In contrast to the candidate gene approach, whole genome scanning without hypothesis has
the advantage of identifying disease genes even if the functions of the genes are not …
the advantage of identifying disease genes even if the functions of the genes are not …
A unique role of cohesin‐SA1 in gene regulation and development
Vertebrates have two cohesin complexes that consist of Smc1, Smc3, Rad21/Scc1 and
either SA1 or SA2, but their functional specificity is unclear. Mouse embryos lacking SA1 …
either SA1 or SA2, but their functional specificity is unclear. Mouse embryos lacking SA1 …
Cohesin and human disease
J Liu, ID Krantz - Annu. Rev. Genomics Hum. Genet., 2008 - annualreviews.org
Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a
disruption of cohesin function. The cohesin ring complex is composed of four protein …
disruption of cohesin function. The cohesin ring complex is composed of four protein …
N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 is overexpressed in cancer and promotes a pro-migratory and pro-metastatic phenotype
Abstract N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 (NAALADL2) is a member of the
glutamate carboxypeptidase II family, best characterized by prostate-specific membrane …
glutamate carboxypeptidase II family, best characterized by prostate-specific membrane …
How cohesin and CTCF cooperate in regulating gene expression
Cohesin is a DNA-binding protein complex that is essential for sister chromatid cohesion
and facilitates the repair of damaged DNA. In addition, cohesin has important roles in …
and facilitates the repair of damaged DNA. In addition, cohesin has important roles in …
Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome
A Muto, AL Calof, AD Lander, TF Schilling - PLoS biology, 2011 - journals.plos.org
Cornelia de Lange Syndrome (CdLS) is the founding member of a class of multi-organ
system birth defect syndromes termed cohesinopathies, named for the chromatin-associated …
system birth defect syndromes termed cohesinopathies, named for the chromatin-associated …