46 research outputs found
Supramolecular interactions in clusters of polar and polarizable molecules
We present a model for molecular materials made up of polar and polarizable
molecular units. A simple two state model is adopted for each molecular site
and only classical intermolecular interactions are accounted for, neglecting
any intermolecular overlap. The complex and interesting physics driven by
interactions among polar and polarizable molecules becomes fairly transparent
in the adopted model. Collective effects are recognized in the large variation
of the molecular polarity with supramolecular interactions, and cooperative
behavior shows up with the appearance, in attractive lattices, of discontinuous
charge crossovers. The mean-field approximation proves fairly accurate in the
description of the gs properties of MM, including static linear and non-linear
optical susceptibilities, apart from the region in the close proximity of the
discontinuous charge crossover. Sizeable deviations from the excitonic
description are recognized both in the excitation spectrum and in linear and
non-linear optical responses. New and interesting phenomena are recognized near
the discontinuous charge crossover for non-centrosymmetric clusters, where the
primary photoexcitation event corresponds to a multielectron transfer.Comment: 14 pages, including 11 figure
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
AbstractCleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder
A Novel Association between RASA1 Mutations and Spinal Arteriovenous Anomalies.
BACKGROUND AND PURPOSE: CM-AVM is a recently recognized autosomal dominant disorder associated with mutations in RASA1. Arteriovenous lesions have been reported in the brain, limbs, and the face in 18.5% of patients. We report a novel association between RASA1 mutations and spinal arteriovenous anomalies. MATERIALS AND METHODS: In a collaborative study, 5 index patients (2 females, 3 males) with spinal AVMs or AVFs and cutaneous multifocal capillary lesions were investigated for the RASA1 gene mutation. RESULTS: All 5 patients were found to have RASA1 mutation (2 de novo, 3 familial), and all had multifocal capillary malformations at birth. Neurologic deficits developed at ages ranging from infancy to early adulthood. All spinal anomalies (2 AVMs at the conus, 1 AVM at the lumbosacral junction, and 1 cervical and 1 cervicothoracic AVF) were complex, extensive, and fast-flow lesions. All patients required treatment based on the clinical and/or radiologic appearance of the lesions. CONCLUSIONS: To our knowledge, an association of RASA1 mutation and spinal AVM/AVF has not been described. MR imaging screening of patients with characteristic CMs and neurologic symptoms presenting at a young age may be useful in detecting the presence of fast-flow intracranial or intraspinal arteriovenous anomalies before potentially significant neurologic insult has occurred