Dominant Leber congenital amaurosis, cone‐rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX

C Rivolta, EL Berson, TP Dryja - Human mutation, 2001 - Wiley Online Library
We summarize 18 mutations in the human CRX gene that have been associated with Leber
congenital amaurosis (congenital retinal blindness), cone‐rod degeneration, or retinitis …

Do water molecules mediate protein-DNA recognition?

CK Reddy, A Das, B Jayaram - Journal of Molecular Biology, 2001 - Elsevier
A comprehensive analysis of interfacial water molecules in the structures of 109 unique
protein-DNA complexes is presented together with a new view on their role in protein-DNA …

Cooperativity in drug− DNA recognition: a molecular dynamics study

SA Harris, E Gavathiotis, MS Searle… - Journal of the …, 2001 - ACS Publications
NMR studies have shown that the minor groove-binding ligand Hoechst 33258 binds to the
two T4/A4 tracts within the duplex d (CTTTTCGAAAAG) 2 in a highly cooperative manner …

Characterization of homo-and heterodimerization of cardiac Csx/Nkx2. 5 homeoprotein

H Kasahara, A Usheva, T Ueyama, H Aoki… - Journal of Biological …, 2001 - ASBMB
Csx/Nkx2. 5 is an evolutionarily conserved homeodomain (HD)-containing transcription
factor that is essential for early cardiac development. We found that the HD of Csx/Nkx2. 5 …

The Leri–Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator

E Rao, RJ Blaschke, A Marchini… - Human molecular …, 2001 - academic.oup.com
Functional impairment of the human homeobox gene SHOX causes short stature and
Madelung deformity in Leri–Weill syndrome (LWS) and has recently been implicated in …

Solution structure of a telomeric DNA complex of human TRF1

T Nishikawa, H Okamura, A Nagadoi, P König… - Structure, 2001 - cell.com
Background: Mammalian telomeres consist of long tandem arrays of double-stranded
TTAGGG sequence motif packaged by TRF1 and TRF2. In contrast to the DNA binding …

Molecular Characterization of Pax62Neu Through Pax610Neu: An Extension of the Pax6 Allelic Series and the Identification of Two Possible Hypomorph Alleles in the Mouse …

J Favor, H Peters, T Hermann, W Schmahl… - Genetics, 2001 - academic.oup.com
Phenotype-based mutagenesis experiments will increase the mouse mutant resource,
generating mutations at previously unmarked loci as well as extending the allelic series at …

Crystal Structure of the Msx-1 Homeodomain/DNA Complex,

S Hovde, C Abate-Shen, JH Geiger - Biochemistry, 2001 - ACS Publications
The Msx-1 homeodomain protein plays a crucial role in craniofacial, limb, and nervous
system development. Homeodomain DNA-binding domains are comprised of 60 amino …

Superactivation of Pax6-mediated transactivation from paired domain-binding sites by DNA-independent recruitment of different homeodomain proteins

I Mikkola, JA Bruun, T Holm, T Johansen - Journal of Biological Chemistry, 2001 - ASBMB
The Pax6 genes encode evolutionary conserved transcription factors that act high up in the
regulatory hierarchy controlling development of central organs such as the eyes and the …

[HTML][HTML] A conserved regulatory element present in all Drosophila rhodopsin genes mediates Pax6 functions and participates in the fine-tuning of cell-specific …

D Papatsenko, A Nazina, C Desplan - Mechanisms of development, 2001 - Elsevier
The Drosophilarhodopsin genes (rh's) represent a unique family of highly regulated cell-
specific genes, where each member has its own expression pattern in the visual system …