Search results for "finger"
showing 10 items of 400 documents
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
1999
Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal dominant manner. TRPS I patients have sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, a thin upper vermilion border and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations and short stature. We assigned TRPS1 to human chromosome 8q24. It maps proximal of EXT1, which is affected in a subgroup of patients with multiple cartilaginous exostoses and deleted in all patients with TRPS type II (TRPS II, or Langer-Giedion syndrome, MIM 150230; ref.2-5)…
Comparing MEG and EEG in detecting the ~20-Hz rhythm modulation to tactile and proprioceptive stimulation
2020
Abstract Modulation of the ~20-Hz brain rhythm has been used to evaluate the functional state of the sensorimotor cortex both in healthy subjects and patients, such as stroke patients. The ~20-Hz brain rhythm can be detected by both magnetoencephalography (MEG) and electroencephalography (EEG), but the comparability of these methods has not been evaluated. Here, we compare these two methods in the evaluating of ~20-Hz activity modulation to somatosensory stimuli. Rhythmic ~20-Hz activity during separate tactile and proprioceptive stimulation of the right and left index finger was recorded simultaneously with MEG and EEG in twenty-four healthy participants. Both tactile and proprioceptive st…
Nuclear localization of the protein encoded by the Wilms’ tumor gene WT1 in embryonic and adult tissues
1993
ABSTRACT The human Wilms’ tumor gene WT1 encodes a putative transcription factor implicated in tumorigenesis and in specifying normal urogenital development. We have studied the distribution of WT1 protein and mRNA using immunohistochemistry and in situ hybridization. Monoclonal antibodies were raised against a peptide specific to the first alternative splice site of WT1. Two antibodies specifically reacted on Western blot to this WT1 isoform. Immunofluorescence localized WT1 protein to podocytes during mesonephric and metanephric development. In situ hybridization revealed a similar pattern of expression except that WT1 mRNA was also present in metanephric blastema and renal vesicles. Mess…
Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy.
2012
<b><i>Background/Aims:</i></b> Mutations of the short stature homeobox-containing <i>(SHOX)</i> gene on the pseudoautosomal region of the sex chromosomes cause short stature. GH treatment has been recently proposed to improve height in short patients with SHOX deficiency. The aim of this study was to evaluate GH secretion and analyze growth and safety of recombinant human GH (rhGH) therapy in short children and adolescents with SHOX deficiency. <b><i>Patients and Design:</i></b> We studied 16 patients (10 females; 9.7 ± 2.9 years old; height –2.46 ± 0.82 standard deviation score, SDS) with SHOX deficiency. All subjects underwent au…
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…
Y-chromosome STR haplotypes from a Western Mediterranean population sample
2001
Nine Y-chromosome STRs were investigated in a male population sample from the Western Mediterranean region of Valencia (Eastern Spain). Complete nine Y-chromosomal STRs haplotypes were obtained in 140 individuals, among which 113 different haplotypes were observed. The most common haplotype was shared by 5% of the sample, while 99 haplotypes were unique. The gene diversity was 0.9892 and the discrimination capacity was 0.8071. Significant population differences were observed with respect to other Iberian populations, such as the Basques and Northern Portugueses.
Immunological response against SARS-CoV-2 following full-dose administration of Comirnaty® COVID-19 vaccine in nursing home residents
2022
6 páginas, 2 figuras, 3 tablas. Se puede acceder al texto completo de este artículo desde PubMedCentral: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490129 . Los datos de investigación utilizados en el mismo, se encuentran disponibles en: https://doi.org/10.1016/j.cmi.2021.09.031.
Preparation of degraded human DNA under controlled conditions
2003
Abstract DNA typing through analysis of short tandem repeats (STRs) and mitochondrial DNA (mtDNA) by means of the polymerase chain reaction (PCR) and sequencing are the common methods for the forensic identification of persons and reconstruction of kinship, especially when skeletal human remains have to be analyzed. Furthermore, samples typically found at crime scenes may be both quantitatively and qualitatively inadequate since they may contain very scarce and often degraded DNA due to exposure to heat, light, humidity, and microorganisms. In order to improve the performance of STR typing technology in those cases where DNA availability is limited, it would be desirable to have a source of…
Generic Inhibition of the Selected Movement and Constrained Inhibition of Nonselected Movements during Response Preparation
2014
Abstract Previous studies have identified two inhibitory mechanisms that operate during action selection and preparation. One mechanism, competition resolution, is manifest in the inhibition of the nonselected response and attributed to competition between candidate actions. The second mechanism, impulse control, is manifest in the inhibition of the selected response and is presumably invoked to prevent premature response. To identify constraints on the operation of these two inhibitory mechanisms, we manipulated the effectors used for the response alternatives, measuring changes in corticospinal excitability with motor-evoked potentials to TMS. Inhibition of the selected response (impulse …
ZBTB20 is crucial for the specification of a subset of callosal projection neurons and astrocytes in the mammalian neocortex
2021
ABSTRACT Neocortical progenitor cells generate subtypes of excitatory projection neurons in sequential order followed by the generation of astrocytes. The transcription factor zinc finger and BTB domain-containing protein 20 (ZBTB20) has been implicated in regulation of cell specification during neocortical development. Here, we show that ZBTB20 instructs the generation of a subset of callosal projections neurons in cortical layers II/III in mouse. Conditional deletion of Zbtb20 in cortical progenitors, and to a lesser degree in differentiating neurons, leads to an increase in the number of layer IV neurons at the expense of layer II/III neurons. Astrogliogenesis is also affected in the mut…