A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
- T. Beaty, J. Murray, A. F. Scott
- BiologyNature Genetics
- 1 June 2010
Replication studies from several populations showed confirming evidence, with families of European ancestry giving strong evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4, and expression studies support a role for MAFBs in palatal development.
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.
- T. Zucchero, M. Cooper, J. Murray
- MedicineNew England Journal of Medicine
- 19 August 2004
DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate; moreover, the results for some individual populations from South America and Asia were highly significant.
A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling.
It is shown that Pdgfc(-/-) mice die in the perinatal period owing to feeding and respiratory difficulties associated with a complete cleft of the secondary palate, and that PDGF-C signaling is a new pathway in palatogenesis, different from, and independent of, those previously implicated.
Association mapping of disease loci, by use of a pooled DNA genomic screen.
- L. Barcellos, W. Klitz, G. Thomson
- BiologyAmerican Journal of Human Genetics
- 1 September 1997
Use of pooled DNA amplifications is reported for the accurate determination of marker-disease associations for both case-control and nuclear family-based data, including application of correction methods for stutter artifact and preferential amplification.
Single sperm typing demonstrates that reduced recombination is associated with the production of aneuploid 24,XY human sperm.
- Q. Shi, E. Spriggs, L. Field, E. Ko, L. Barclay, R. Martin
- BiologyAmerican journal of medical genetics
- 15 February 2001
Direct analysis of human sperm indicates that lack of recombination in the pseudoautosomal region is a significant cause of XY nondisjunction and thus Klinefelter syndrome.
Variation in antiviral 2',5'-oligoadenylate synthetase (2'5'AS) enzyme activity is controlled by a single-nucleotide polymorphism at a splice-acceptor site in the OAS1 gene.
- V. Bonnevie-Nielsen, L. Field, F. Pociot
- BiologyAmerican Journal of Human Genetics
- 1 April 2005
Analysis of 83 families containing two parents and two children demonstrated significant correlations between basal activity in parent-child pairs and sibling pairs, but not spousal pairs, suggesting strong genetic control of basal activity.
A specific requirement for PDGF-C in palate formation and PDGFR-α signaling
It is shown that Pdgfc−/− mice die in the perinatal period owing to feeding and respiratory difficulties associated with a complete cleft of the secondary palate, and that PDGF-C signaling is a new pathway in palatogenesis, different from, and independent of, those previously implicated.
Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families.
- M. Marazita, L. Field, You-e Liu
- MedicineAmerican Journal of Human Genetics
- 1 August 2002
This is the first reported genome-scan study of CL/P in any Asian population and results are presented here are the results for the 366 autosomal markers.
Genetic linkage and association studies of Type I diabetes: challenges and rewards
- L. Field
- Biology, MedicineDiabetologia
- 2002
This paper summarizes the major challenges that have faced geneticists in mapping Type I diabetes genes, and reviews the progress achieved to date, enabling clinicians in the future to use genetic information to predict which children are predisposed to diabetes in order to target them for preventative therapies.
Evidence for a susceptibility locus on chromosome 6q influencing phonological coding dyslexia.
- T. Petryshen, B. Kaplan, L. Field
- PsychologyAmerican journal of medical genetics
- 8 August 2001
A linkage study of 96 dyslexia families containing at least two affected siblings has found evidence for a Dyslexia susceptibility gene on chromosome 6q11.2-q12 (assigned the name DYX4), and multipoint nonparametric quantitative trait sibpair analyses suggested linkage between this region and phonological awareness, phonological coding, and spelling.
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