User profiles for Christine M. Disteche

Christine Disteche

University of Washington
Verified email at uw.edu
Cited by 29808

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome

…, NG Copeland, MA Bedell, S Edelhoff, CM Disteche… - Science, 1993 - science.org
The ligand for CD40 (CD40L) is a membrane glycoprotein on activated T cells that induces
B cell proliferation and immunoglobulin secretion. Abnormalities in the CD40L gene were …

The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned

…, R Reijo, S Rozen, MB Dinulos, CM Disteche… - Nature …, 1996 - nature.com
It is widely believed that most or all Y–chromosomal genes were once shared with the X
chromosome. The DAZ gene is a candidate for the human Y–chromosomal Azoospermia Factor …

Dosage compensation of the active X chromosome in mammals

DK Nguyen, CM Disteche - Nature genetics, 2006 - nature.com
Monosomy of the X chromosome owing to divergence between the sex chromosomes leads
to dosage compensation mechanisms to restore balanced expression between the X and …

Dosage compensation in mammals: fine-tuning the expression of the X chromosome

E Heard, CM Disteche - Genes & development, 2006 - genesdev.cshlp.org
Mammalian females have two X chromosomes and males have only one. This has led to
the evolution of special mechanisms of dosage compensation. The inactivation of one X …

The molecular basis of the human serum paraoxonase activity polymorphism

R Humbert, DA Adler, CM Disteche, C Hassett… - Nature …, 1993 - nature.com
The organophosphate cholinesterase inhibitor paraoxon is hydrolysed by serum
paraoxonase/arylesterase. A genetic polymorphism of paraoxonase (PON) activity which determines …

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

…, B Smith, PD Swanson, SJ Odelberg, CM Disteche… - Cell, 1993 - cell.com
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant
disorder that causes episodes of focal demyelinating neuropathy following minor trauma to …

[PDF][PDF] A single-cell atlas of in vivo mammalian chromatin accessibility

…, SG Regalado, DF Read, FJ Steemers, CM Disteche… - Cell, 2018 - cell.com
We applied a combinatorial indexing assay, sci-ATAC-seq, to profile genome-wide chromatin
accessibility in ∼100,000 single cells from 13 adult mouse tissues. We identify 85 distinct …

CTCF physically links cohesin to chromatin

…, DJ Reiss, PL Welcsh, CM Disteche… - Proceedings of the …, 2008 - National Acad Sciences
Cohesin is required to prevent premature dissociation of sister chromatids after DNA replication.
Although its role in chromatid cohesion is well established, the functional significance of …

Genes that escape from X inactivation

JB Berletch, F Yang, J Xu, L Carrel, CM Disteche - Human genetics, 2011 - Springer
To achieve a balanced gene expression dosage between males (XY) and females (XX),
mammals have evolved a compensatory mechanism to randomly inactivate one of the female X …

X chromosome regulation: diverse patterns in development, tissues and disease

…, JB Berletch, DK Nguyen, CM Disteche - Nature Reviews …, 2014 - nature.com
Genes on the mammalian X chromosome are present in one copy in males and two copies
in females. The complex mechanisms that regulate the X chromosome lead to evolutionary …