1,720,970 research outputs found
The acute promyelocytic leukemia-specific PML/RAR alpha fusion protein reduces the frequency of commitment to apoptosis upon growth factor deprivation of GM-CSF-dependent myeloid cells.
No full textAcute promyelocytic leukemia cells resistant to retinoic acid show further perturbation of the RARa signal transduction system.
No full textTrisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.
No full textThe localization of the HRX proteinto specific nuclear subomains is altered by fusion with its eps15 translocation partner
No full textCraniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.
No full textCraniotubular dysplasias (CTD) are a heterogeneous group of
genetic disorders of skeletal development, whose clinical and
etiological classification is still much debated. One of the most
common form is the autosomal dominant craniometaphyseal
dysplasia (CMD) which is associated with mutation in theANKH
gene. In the literature a few families are reported with CMD
phenotype that suggest an autosomal recessive (AR) pattern of
inheritance. A candidate locus at 6q21-22 has been mapped in a
large inbred Brazilian family, but the gene of the recessive formis
still unknown. Our data on a female patient with CMD phenotype,
born from healthy first degree cousins and displaying
homozygosity for polymorphic markers at the 6q21-22 locus,
further support the existence of an AR CMD, expanding its
clinical spectrum to a more severe phenotype
Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?
No full text
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
No full textThe most frequent causes of Intellectual Disability (ID)/Autism Spectrum Disorders (ASDs) are chromosomal abnormalities, genomic rearrangements and submicroscopic deletions coupled with duplications. We report here on an 11-year-old girl showing autism, macrocephaly, and facial dysmorphism, in which array-CGH showed a de novo microdeletion of ∼114 Kb in the 14q11.2 chromosomal region, involving the SUPT16H, CHD8, and RAB2B genes. Four patients with ID and/or ASD and/or macrocephaly with overlapping deletions have been previously described: three showed very large rearrangements (>1 Mb), while one had a microdeletion of ∼101 Kb, largely overlapping the one reported herein. The minimal critical region, considering present and previous cases, contains the SUPT16H and CHD8 genes. Notably, recent studies also disclosed CHD8 heterozygous loss-of-function mutations in patients with ASD and macrocephaly. Our finding shows the presence of a recurrent microdeletion associated with a clinically recognizable phenotype, and further on underlines the pivotal role of CHD8 gene in the pathogenesis of the disorder
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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