Search results for "comparative"
showing 10 items of 1371 documents
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disord…
2019
Rubinstein–Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disease affecting 1:125,000 newborns characterized by intellectual disability, growth retardation, facial dysmorphisms and skeletal abnormalities. RSTS is caused by mutations in genes encoding for writers of the epigenetic machinery: CREBBP (~ 60%) or its homologous EP300 (~ 10%). No causative mutation is identified in up to 30% of patients. We performed whole-exome sequencing (WES) on eight RSTS-like individuals who had normal high-resolution array CGH testing and were CREBBP- and EP300-mutation -negative, to identify the molecular cause. In four cases, we identified putatively causal variants in three genes (ASXL…
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
2010
Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previously, we demonstrated reduced expression of both GJB2 and GJB6 mRNA from the allele carried in trans with that bearing the 35delG mutation in these four persons. Usin…
Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation
2011
Abstract We report two individuals with developmental delay and dysmorphic features, in whom array-based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16.1 de novo deletion. In the first patient (Patient 1) a familial deletion of 6q12, inherited from her father, was also detected. In the second patient (Patient 2) in addition to the 2p15p16.1 microdeletion a de novo deletion in Xq28 was detected. Both individuals shared dysmorphic features and developmental delay with the six reported patients with a 2p15p16.1 microdeletion described in medical literature. Conclusion: in the first patient a 642 kb 2p16.1 deletion (from 60.604 to 61.246 Mb), and a 930 kb 6…
Stability of pedalling mechanics during a prolonged cycling exercise performed at different cadences.
2005
The aim of this study was to analyse the effect of pedalling rate on the pattern of mechanical torque application and on neuromuscular fatigue during prolonged cycling exercise. Eleven well-trained individuals performed three 1-h pedalling sessions, at 50 rev.min-1, 110 rev.min-1 and a freely chosen cadence, at an intensity corresponding to 65% of their maximal aerobic power. The mechanical torque applied on the right pedal was recorded for 30 s every 5 min while pedalling. Contractile and neural properties of the quadriceps and hamstring muscles were analysed before and immediately after each of the three pedalling sessions. The post-exercise reduction in knee extensors maximal voluntary c…
A Comparative Study on Adolescents’ Health Literacy in Europe: Findings from the HBSC Study
2020
(1) Background: There is a need for studies on population-level health literacy (HL) to identify the current state of HL within and between countries. We report comparative findings from 10 European countries (Austria, Belgium (Fl), Czechia, England, Estonia, Finland, Germany, Macedonia, Poland, and Slovakia) on adolescents&rsquo
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient
2020
Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing (LRPPRC). It is an autosomal recessive neurogenetic OXPHOS disorder, phenotypically distinct from other types of Leigh syndrome, with a carrier frequency up to 1:23 and an incidence of 1:2063 in the Saguenay-Lac-St Jean region of Quebec. Recently, LSFC has also been reported outside the French-Canadian population. Patient presentation We report a male Italian (Sic…
Evolution of chromatin-remodeling complexes: comparative genomics reveals the ancient origin of "novel" compensasome genes.
2003
Dosage compensation in Drosophila is mediated by a complex, called compensasome, com- posed of at least five proteins and two noncoding RNAs. Genes encoding compensasome proteins have been collectively named male-specific lethals or msls. Recent work showed that three of the Drosophila msls (msl-3, mof, and mle) have an ancient origin. In this study, I describe likely orthologues of the two re- maining msls, msl-1 and msl-2, in several inverte- brates and vertebrates. The MSL-2 protein is the only one found in Drosophila and vertebrate genomes that contains both a RING finger and a peculiar type of CXC domain, related to the one present in Enhancer of Zeste proteins. MSL-1 also contains two…
Breed, sex, and litter effects in 2-month old puppies’ behaviour in a standardised open-field test
2017
AbstractA considerable number of studies have reported differences among dog breeds with respect to their genetic profile, cognitive abilities or personality traits. Each dog breed is normally treated as a homogeneous group, however, researchers have recently questioned whether the behavioural profile of modern breeds still reflects their historical function or if the intense divergent selective pressures and geographical barriers have created a more fragmented picture. The majority of studies attempting to assess and compare modern breeds’ personality focused on the evaluation of adult dogs where the potential effects of environmental/human factors on the dogs’ behaviour are hard to discer…
MALT1 is deregulated by both chromosomal translocation and amplification in B-cell non-Hodgkin lymphoma
2003
The MALT1 gene was identified through its involvement in t(11;18)(q21;q21), seen in 30% of cases of mucosa-associated lymphoid tissue (MALT) lymphoma. Here, we show that deregulated MALT1 expression may occur in B-cell non-Hodgkin lymphoma (B-NHL) of various histologic subtypes either through translocation to the immunoglobulin heavy chain (IGH) locus or by genomic amplification. First, 2 cases, one case of MALT lymphoma and another of aggressive marginal zone lymphoma (MZL) with t(14;18)(q32;q21), cytogenetically identical to the translocation involving BCL2, were shown by fluorescence in situ hybridization (FISH) to involve MALT1, which lies about 5 Mb centromeric of BCL2. Molecular cloni…
Proportion of odorants impacts the configural versus elemental perception of a binary blending mixture in newborn rabbits.
2011
WOS: 000295167200002; International audience; Processing of odor mixtures by neonates is weakly understood. Previous studies showed that a binary mixture of ethyl isobutyrate/ethyl maltol (odorants A/B) blends in newborn rabbits at the 30/70 ratio: Pups would perceive a configural odor in addition to the components' odors. Here, we investigated whether the emergence of this additional odor in AB is determined by specific ratio(s) of A and B. To that goal, we tested whether pups discriminated between AB mixtures with lower (A(-)B, 8/92 ratio) or higher (A(+)B, 68/32) proportion of A. In Experiment 1, pups conditioned to A (or B) responded to A(-)B and A(+)B but not to AB. In Experiment 2, pu…