Biomedical subjects

Catherine Willis

Publications and source records attributed to Catherine Willis.

5 recordsLinked to original sources

PubMed2005

Working memory in children with reading disabilities.

This study investigated associations between working memory (measured by complex memory tasks) and both reading and mathematics abilities, as well as the possible mediating factors of fluid intelligence, verbal abilities, short-term memory (STM), and phonological awareness, in a sample of 46 6- to 11-year-olds with reading disabilities. As a whole, the sample was characterized by deficits in complex memory and visuospatial STM and by low IQ scores; language, phonological STM, and phonological awareness abilities fell in the low average range. Severity of reading difficulties within the sample was significantly associated with complex memory, language, and phonological awareness abilities, whereas poor mathematics abilities were linked with complex memory, phonological STM, and phonological awareness scores. These findings suggest that working memory skills indexed by complex memory tasks represent an important constraint on the acquisition of skill and knowledge in reading and mathematics. Possible mechanisms for the contribution of working memory to learning, and the implications for educational practice, are considered.

Aptitude↗

PubMed2005

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.

Isolated (non-syndromic) congenital cataract may be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive trait. Considerable progress has been made in identifying genes and loci for dominantly inherited cataract, but the molecular basis for autosomal recessive disease is less well defined. Hence we undertook genetic linkage studies in four consanguineous Pakistani families with non-syndromic autosomal recessive congenital cataracts. In two families linkage to a 38 cM region 9q13-q22 was detected. Although a locus for recessive congenital cataracts had not been mapped previously to this region, the target interval encompasses the candidate region autosomal recessive adult-onset pulverulent cataracts (CAAR). The CAAR was mapped previously to 9q13-q22, and may therefore be allelic to non-syndromic autosomal recessive congenital cataracts. The other two families did not demonstrate linkage to 9q, but both had a region of homozygosity at 16q22 containing the heat shock transcription factor 4 (HSF4) gene. The HSF4 mutations have been reported in four families with autosomal dominant cataracts and, recently, in a single kindred with autosomal recessive congenital cataract. Mutation analysis of HSF4 revealed homozygous mutations (p.Arg175Pro and c.595_599delGGGCC, respectively) in the two families. These findings confirm that mutations in HSF4 may result in both autosomal dominant and autosomal recessive congenital cataract, and highlight the locus heterogeneity in autosomal recessive congenital cataract.

Base Sequence↗

PubMed2004

A structural analysis of working memory and related cognitive skills in young children.

The aim of this study was to investigate the functional organisation of working memory and related cognitive abilities in young children. A sample of 633 children aged between 4 and 6 years were tested on measures of verbal short-term memory, complex memory span, sentence repetition, phonological awareness, and nonverbal ability. The measurement model that provided the best fit of the data incorporates constructs that correspond to the central executive, phonological loop, and episodic buffer subcomponents of working memory, plus distinct but associated constructs associated with phonological awareness and nonverbal ability.

Child↗

PubMed2002

Enantioselective allyltitanations and metathesis reactions. Application to the synthesis of piperidine alkaloids (+)-sedamine and (-)-prosophylline.

An enantioselective synthesis of the piperidine alkaloids (+)-sedamine and (-)-prosophylline is reported. The synthesis of (+)-sedamine has been achieved in 12 steps with an overall yield of 20% from benzaldehyde, and (-)-prosophylline was obtained in 15 steps with an overall yield of 9.2%, starting from D-glyceraldehyde acetonide 14. The key steps are enantioselective allyltitanation reactions and ring-closing or cross-metathesis reactions.

Alkaloids↗

PubMed2002

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Retinitis pigmentosa (RP), the commonest form of inherited retinal dystrophies is a clinically and genetically heterogeneous disorder. It is characterized by progressive degeneration of the peripheral retina leading to night blindness and loss of peripheral visual field. RP is inherited either in an autosomal dominant, autosomal recessive or X-linked mode. A locus (RP18) for autosomal dominant RP was previously mapped by linkage analysis in two large pedigrees to chromosome 1p13-q21. The human HPRP3 gene, the orthologue of the yeast pre-mRNA splicing factor (PRP3), localizes within the RP18 disease interval. The recent identification of mutations in human splicing factors, PRPF31 and PRPC8, led us to screen HPRP3 as a candidate in three chromosome 1q-linked families. So far, two different missense mutations in two English, a Danish family and in three RP individuals have been identified. Both mutations are clustered within a two-codon stretch in the 11th exon of the HPRP3 gene. Interestingly, one of the mutations (T494M) is seen repeatedly in apparently unlinked families raising the possibility of a mutation hot spot. This has been confirmed by haplotype analysis using SNPs spanning the HPRP3 gene region supporting multiple origins of the mutation. The altered HPRP3 amino acids, which are highly conserved in all known HPRP3 orthologues, indicate a major function of that domain in the splicing process. The identification of mutations in a third pre-mRNA splicing factor gene further highlights a novel mechanism of photoreceptor degeneration due to defects in the splicing process.

Amino Acid Sequence↗