A5057292358- Connective tissue disorders research
- Bacterial Genetics and Biotechnology
- Genomic variations and chromosomal abnormalities
- Dermatological and Skeletal Disorders
- Bacteriophages and microbial interactions
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Legume Nitrogen Fixing Symbiosis
- Genetic factors in colorectal cancer
- Williams Syndrome Research
- Glycosylation and Glycoproteins Research
- Immunodeficiency and Autoimmune Disorders
- Congenital gastrointestinal and neural anomalies
- Pneumothorax, Barotrauma, Emphysema
- Cell Adhesion Molecules Research
- Viral Infectious Diseases and Gene Expression in Insects
- Transgenic Plants and Applications
- Prenatal Screening and Diagnostics
- Pancreatic function and diabetes
- Pleural and Pulmonary Diseases
- Enzyme Structure and Function
- Cancer-related gene regulation
- Genomics and Phylogenetic Studies
- Folate and B Vitamins Research
Universidade Nova de Lisboa
2001-2014
Yale University
2008-2012
Hospital da Luz
2012
McGill University Health Centre
2008-2009
Centre Hospitalier Universitaire Sainte-Justine
2005-2008
Université de Montréal
2004-2007
Izaak Walton Killam Health Centre
1999-2007
University of Toronto
1993-2006
Hospital for Sick Children
1995-2006
Instituto de Tecnología Química
2001-2004
The Bacillus subtilis endospore coat protein CotA shows laccase activity. By using comparative modeling techniques, we were able to derive a model for based on the known x-ray structures of zucchini ascorbate oxidase and Cuprinus cereneus laccase. This contains all structural features laccase, including reactive surface-exposed copper center (T1) two buried centers (T2 T3). Single amino acid substitutions in T1 (H497A, or M502L) did not prevent assembly mutant proteins into alter pattern...
The molecular basis of bacterial cell morphogenesis remains largely an open question. Here we discover a morphogenic protein, RodZ, which is widely conserved across the kingdom. In Caulobacter crescentus, RodZ essential for viability and involved in all aspects this organism's complex morphology. Depletion or over-production results grossly misshapen cells with stalk defects. exhibits localization pattern during cycle corresponding to sites active peptidoglycan synthesis. temporal transition...
Hypochondroplasia is a genetic disorder of disproportionate short stature. Linkage analysis provisionally placed hypochondroplasia in the chromosome 4p 16.3 region, location to which FGFR3 gene has been mapped. The genotyping three-generation family showed no recombinants between phenotype and three highly polymorphic markers flanking gene. Mutation was performed by RT-PCR direct sequencing. Primers covering most coding sequence were used for mRNA PCR amplification genomic DNA. A C-->A...
Abstract We describe an attempt to measure effects of Mendelian phenotypes on human health (homeostasis) in man. used the McKusick Catalogs as source for descriptions autosomal dominant, recessive, and X‐linked phenotypes. Three hundred fifty one entries (76% initial sample) were disadaptive causing impairment, disability, or handicap. (Terms are accordance with World Health Organization (WHO) definitions.) Phenotypic scored impact life‐span, reproductive capability, psychosocial...
Williams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity elastin (ELN) gene can account for vascular and connective tissue abnormalities observed in WS patients, but that contribute to features such as infantile hypercalcemia, dysmorphic facies, mental retardation remain be identified. In addition, size genomic interval commonly deleted patients has not been established. this study we report characterization 500-kb...
The synthesis of the peptidoglycan cell wall is carefully regulated in time and space. In nature, this essential process occurs cells that live fluctuating environments. Here we show spatial distributions specific proteins Caulobacter crescentus are sensitive to small external osmotic upshifts. penicillin-binding protein PBP2, which commonly branded as an elongation-specific transpeptidase, switches its localization from a dispersed, patchy pattern accumulation at FtsZ ring location response...
Activating mutations in the KCNJ11 gene encoding for Kir6.2 subunit of β-cell ATP-sensitive potassium channel have recently been shown to be a common cause permanent neonatal diabetes. In 80% probands, these are isolated cases resulting from de novo mutations. We describe family which two affected paternal half-siblings were found heterozygous previously reported R201C mutation. Direct sequencing leukocyte DNA showed that their clinically unaffected mothers and father genotypically normal....
Enchondromas are a feature of several constitutional disorders bone, and the classification different nosologic entities is still provisional. Among these disorders, spondyloenchondrodysplasia (SPENCD), as outlined by Schorr et al. [1976], defined presence radiolucent spondylar metaphyseal lesions that represent persistence islands chondroid tissue within bone. Careful review radiographic findings needed to distinguish SPENCD from many other combining enchondromas with spinal lesions. Even...
Abstract We report on a child with Duane anomaly, deafness, cervical spine, and radial ray abnormalities. A sister of the proposita had hemifacial microsomia, abnormalities, hypoplasia thenar eminence. Four relatives fifth preaxial polydactyly. anomaly was present in two sixth‐degree relatives. This appears to be an autosomal dominant trait. Singly or combination abnormalities seen this family have all been described association anomaly. Their occurrence same suggests that they are not...
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with similar phenotype consisting mild mental retardation, failure to thrive infancy, proportionate short stature and osteopoikilosis as most characteristic features. In each case, this interstitial was found using molecular karyotyping. The occurred de novo event varied between 3.44 6 megabases (Mb) size Mb common deleted region. interval not flanked by low-copy repeats or segmental...
Abstract Chondrodysplasia punctata (CDP) is etiologically a heterogeneous condition and has been associated with single gene disorders, chromosome abnormalities teratogenic exposures. The first publication of the association between CDP maternal autoimmune connective tissue disorder was by Curry et al. 1993 ]. collagen vascular disease. A new etiology? Presented at David W. Smith Workshop on Morphogenesis Malformations, Mont Tremblant, Quebec, August 1993] subsequently, other cases have...
We describe an attempt to measure efficacy of treatment in the Mendelian diseases man. used McKusick Catalogs identify 351 single gene diseases. scored impact each disease seven phenotypic categories: lifespan, reproductive capability, somatic growth, intellectual development, learning ability, capacity work, and cosmetic effect. then success ameliorating these component manifestations separately together. The response was slight whole sample (n = 351): lifespan increased 15%, capability...
Summary In rod‐shaped bacteria, septal peptidoglycan synthesis involves the late recruitment of ftsI gene product (PBP3 in Escherichia coli ) to FtsZ ring. We show that Caulobacter crescentus , PBP3 accumulates at new pole beginning cell cycle. Fluorescence recovery after photobleaching experiments reveal polar molecules are, constantly and independently FtsZ, replaced by those present cellular pool, implying is not a remnant previous division. By time constriction initiated, all...
Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied, clinically and radiographically, 10 affected individuals, originating from Bahia, Brazil. The phenotype characterized by normal axial skeleton severely shortened deformed limbs, with proximo-distal gradient of severity. humeri femora were relatively normal, the radii/ulnae tibiae/fibulae short deformed, carpal tarsal bones fused, several metacarpal metatarsal absent. proximal middle phalanges fingers toes...
We report on two sets of monozygotic twins (MZTs) discordant for phenotypic sex ascertained at birth when the female twin was noted to have signs Ullrich-Turner syndrome. Cytogenetic investigations first pair showed 45,X/46,XY mosaicism in lymphocytes but fibroblasts grown from skin biopsies separate sites and gonadal tissue only 45,X cells. The male both blood fibroblasts. In second family, also lymphocytes. had a karyotype tissue, contrast normal biopsy connective adjacent vas deferens....