Boys Town

About: Boys Town is a nonprofit organization based out in Omaha, Nebraska, United States. It is known for research contribution in the topics: Hearing loss & Poison control. The organization has 864 authors who have published 1831 publications receiving 69545 citations. The organization is also known as: Father Flanagan's Boys' Home & Girls and Boys Tow.

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

Abstract: Only a small proportion of the mouse genome is transcribed into mature messenger RNA transcripts There is an international collaborative effort to identify all full-length mRNA transcripts from the mouse, and to ensure that each is represented in a physical collection of clones Here we report the manual annotation of 60,770 full-length mouse complementary DNA sequences These are clustered into 33,409 'transcriptional units', contributing 901% of a newly established mouse transcriptome database Of these transcriptional units, 4,258 are new protein-coding and 11,665 are new non-coding messages, indicating that non-coding RNA is a major component of the transcriptome 41% of all transcriptional units showed evidence of alternative splicing In protein-coding transcripts, 79% of splice variations altered the protein product Whole-transcriptome analyses resulted in the identification of 2,431 sense-antisense pairs The present work, completely supported by physical clones, provides the most comprehensive survey of a mammalian transcriptome so far, and is a valuable resource for functional genomics

PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

Abstract: A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.

Early Intervention and Language Development in Children Who Are Deaf and Hard of Hearing

Abstract: Objective. The primary purpose of this study was to examine the relationship between age of enrollment in intervention and language outcomes at 5 years of age in a group of deaf and hard-of-hearing children. Method. Vocabulary skills at 5 years of age were examined in a group of 112 children with hearing loss who were enrolled at various ages in a comprehensive intervention program. Verbal reasoning skills were explored in a subgroup of 80 of these children. Participants were evaluated using the Peabody Picture Vocabulary Test and a criterion-referenced measure, the Preschool Language Assessment Instrument, administered individually by professionals skilled in assessing children with hearing loss. A rating scale was developed to characterize the level of family involvement in the intervention program for children in the study. Results. A statistically significant negative correlation was found between age of enrollment and language outcomes at 5 years of age. Children who were enrolled earliest (eg, by 11 months of age) demonstrated significantly better vocabulary and verbal reasoning skills at 5 years of age than did later-enrolled children. Regardless of degree of hearing loss, early-enrolled children achieved scores on these measures that approximated those of their hearing peers. In an attempt to understand the relationships among performance and factors, such as age of enrollment, family involvement, degree of hearing loss, and nonverbal intelligence, multiple regression models were applied to the data. The analyses revealed that only 2 of these factors explained a significant amount of the variance in language scores obtained at 5 years of age: family involvement and age of enrollment. Surprisingly, family involvement explained the most variance after controlling for the influence of the other factors ( r = .615; F change = 58.70), underscoring the importance of this variable. Age of enrollment also contributed significantly to explained variance after accounting for the other variables in the regression ( r = −.452; F change = 19.24). Importantly, there were interactions between the factors of family involvement and age of enrollment that influenced outcomes. Early enrollment was of benefit to children across all levels of family involvement. However, the most successful children in this study were those with high levels of family involvement who were enrolled early in intervention services. Late-identified children whose families were described as limited or average in involvement scored >2 standard deviations below their hearing peers at 5 years of age. Even in the best of circumstances (eg, early enrollment paired with high levels of family involvement), the children in this study scored within the low average range in abstract verbal reasoning compared with hearing peers, reflecting qualitative language differences in these groups of children. Conclusions. Consistent with the findings of Yoshinaga-Itano et al, 1 significantly better language scores were associated with early enrollment in intervention. High levels of family involvement correlated with positive language outcomes, and, conversely, limited family involvement was associated with significant child language delays at 5 years of age, especially when enrollment in intervention was late. The results suggest that success is achieved when early identification is paired with early interventions that actively involve families.

Defective myosin VIIA gene responsible for Usher syndrome type 1B

Abstract: USHER syndrome represents the association of a hearing impairment with retinitis pigmentosa1 and is the most frequent cause of deaf–blindness in humans. It is inherited as an autosomal recessive trait which is clinically and genetically heterogeneous2,3. Some patients show abnormal organization of microtubules in the axoneme of their photoreceptors cells (connecting cilium)4–6, nasal ciliar cells7 and sperm cells5, as well as widespread degeneration of the organ of Corti8. Usher syndrome type 1 (USH1) is characterized by a profound congenital sensorineural hearing loss, constant vestibular dysfunction and prepubertal onset of retinitis pigmentosa. Of three different genes responsible for USH19–11,USH1B maps to 11q13.5 (ref. 10) and accounts for about 75% of USH1 patients2,3. The mouse deafness shaker-1 (shl) mutation has been localized to the homologous murine region12,13. Taking into account the cytoskeletal abnormalities in USH patients, the identification of a gene encoding an unconventional myosin as a candidate for shaker-1(ref. 14) led us to consider the human homo-logue as a good candidate for the gene that is defective in USH1B. Here we present evidence that a gene encoding myosin VIIA is responsible for USH1B. Two different premature stop codons, a six-base-pair deletion and two different missense mutations were detected in five unrelated families. In one of these families, the mutations were identified in both alleles. These mutations, which are located at the amino-terminal end of the motor domain of the protein, are likely to result in the absence of a functional protein. Thus USH IB appears as a primary cytoskeletal protein defect. These results implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome.