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Full-Text Articles in Medicine and Health Sciences
Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray
Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray
Sandra Daack-Hirsch
Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 …
Targeted Scan Of Fifteen Regions For Nonsyndromic Cleft Lip And Palate In Filipino Families, R. Schultz, M. Cooper, Sandra Daack-Hirsch, M. Shi, B. Nepomucena, K. Graf, E. O'Brien, S. O'Brien, M. Marazita, J. Murray
Targeted Scan Of Fifteen Regions For Nonsyndromic Cleft Lip And Palate In Filipino Families, R. Schultz, M. Cooper, Sandra Daack-Hirsch, M. Shi, B. Nepomucena, K. Graf, E. O'Brien, S. O'Brien, M. Marazita, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), in which the affected individual has no other abnormalities. NS CL/P is a complex disorder with genetic and environmental effects and no specific genetic loci yet confirmed. Fifteen candidate regions were examined for linkage to NS CL/P. Regions were chosen based on previous suggestive linkage and/or association in human families, or suggestive animal model data. Polymorphic markers in these regions were genotyped for analysis …
A Novel Homeobox Gene Pitx3 Is Mutated In Families With Autosomal-Dominant Cataracts And Asmd, E. Semina, R. Ferrell, H. Mintz-Hittner, P. Bitoun, W. Alward, R. Reiter, C. Funkhauser, Sandra Daack-Hirsch, J. Murray
A Novel Homeobox Gene Pitx3 Is Mutated In Families With Autosomal-Dominant Cataracts And Asmd, E. Semina, R. Ferrell, H. Mintz-Hittner, P. Bitoun, W. Alward, R. Reiter, C. Funkhauser, Sandra Daack-Hirsch, J. Murray
Sandra Daack-Hirsch
We report here the identification of a new human homeobox gene, PITX3, and its involvement in anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans. The PITX3 gene is the human homologue of the mouse Pitx3 gene and is a member of the RIEG/PITX homeobox gene family. The protein encoded by PITX3 shows 99% amino-acid identity to the mouse protein, with 100% identity in the homeodomain and approximately 70% overall identity to other members of this family. We mapped the human PITX3 gene to 10q25 using a radiation-hybrid panel. A collection of 80 DNA samples from individuals with various …
Impaired Fgf Signaling Contributes To Cleft Lip And Palate, B. Riley, M. Mansilla, J. Ma, Sandra Daack-Hirsch, B. Maher, L. Raffensperger, E. Russo, A. Vieira, C. Dode, M. Mohammadi, M. Marazita, J. Murray
Impaired Fgf Signaling Contributes To Cleft Lip And Palate, B. Riley, M. Mansilla, J. Ma, Sandra Daack-Hirsch, B. Maher, L. Raffensperger, E. Russo, A. Vieira, C. Dode, M. Mohammadi, M. Marazita, J. Murray
Sandra Daack-Hirsch
Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from a combination of genetic and environmental factors. Several members of the FGF and FGFR families are expressed during craniofacial development and can rarely harbor mutations that result in human clefting syndromes. We hypothesized that disruptions in this pathway might also contribute to NS CLP. We sequenced the coding regions and performed association testing on 12 genes (FGFR1, FGFR2, FGFR3, FGF2, FGF3, FGF4, FGF7, FGF8, FGF9, FGF10, FGF18, and NUDT6) and used protein structure analyses to predict the function of amino acid variants. Seven likely disease-causing mutations …
Characterization Of A Novel Gene Disrupted By A Balanced Chromosomal Translocation T(2;19)(Q11.2;Q13.3) In A Family With Cleft Lip And Palate, K. Yoshiura, J. Machida, Sandra Daack-Hirsch, S. Patil, L. Ashworth, J. Hecht, J. Murray
Characterization Of A Novel Gene Disrupted By A Balanced Chromosomal Translocation T(2;19)(Q11.2;Q13.3) In A Family With Cleft Lip And Palate, K. Yoshiura, J. Machida, Sandra Daack-Hirsch, S. Patil, L. Ashworth, J. Hecht, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate is a common birth defect that is genetically complex. The nonsyndromic forms have been studied genetically using linkage and candidate-gene association studies with only partial success in defining the loci responsible for orofacial clefting. Loci for nonsyndromic cases have been suggested on 2p13, 4q31, 6p24, 17q21-q24, and 19q13.2. Recently, we identified a family in which cleft lip and palate segregated in two of three generations with a balanced chromosomal translocation t(2;19)(q11. 2;q13.3). We used a positional-cloning strategy to identify a novel gene disrupted by the translocation on chromosome 19. Eight rare (q 0.01) …
Analysis Of The P63 Gene In Classical Eec Syndrome, Related Syndromes, And Non-Syndromic Orofacial Clefts, L. L. Barrow, H. Van Bokhoven, Sandra Daack-Hirsch, T. Andersen, S. E. Van Beersum, R. Gorlin, J. C. Murray
Analysis Of The P63 Gene In Classical Eec Syndrome, Related Syndromes, And Non-Syndromic Orofacial Clefts, L. L. Barrow, H. Van Bokhoven, Sandra Daack-Hirsch, T. Andersen, S. E. Van Beersum, R. Gorlin, J. C. Murray
Sandra Daack-Hirsch
EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families. In addition, homozygous p63 null mice exhibit craniofacial abnormalities, limb truncations, and absence of epidermal appendages, such as hair follicles and tooth primordia. In this study, we screened 39 syndromic patients, including four with EEC syndrome, five with syndromes closely related to EEC syndrome, and 30 with other syndromic orofacial clefts and/or limb anomalies. We identified heterozygous p63 mutations in three unrelated cases of …
Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray
Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray
Sandra Daack-Hirsch
Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 …
Interferon Regulatory Factor 6 (Irf6) Gene Variants And The Risk Of Isolated Cleft Lip Or Palate, T. Zucchero, M. Cooper, B. Maher, Sandra Daack-Hirsch, B. Nepomuceno, L. Ribeiro, D. Caprau, K. Christensen, Y. Suzuki, J. Machida, N. Natsume, K. Yoshiura, A. Vieira, I. Orioli, E. Castilla, L. Moreno, M. Arcos-Burgos, A. Lidral, L. Field, Y. Liu, A. Ray, T. Goldstein, R. Schultz, M. Shi, M. Johnson, S. Kondo, B. Schutte, M. Marazita, J. Murray
Interferon Regulatory Factor 6 (Irf6) Gene Variants And The Risk Of Isolated Cleft Lip Or Palate, T. Zucchero, M. Cooper, B. Maher, Sandra Daack-Hirsch, B. Nepomuceno, L. Ribeiro, D. Caprau, K. Christensen, Y. Suzuki, J. Machida, N. Natsume, K. Yoshiura, A. Vieira, I. Orioli, E. Castilla, L. Moreno, M. Arcos-Burgos, A. Lidral, L. Field, Y. Liu, A. Ray, T. Goldstein, R. Schultz, M. Shi, M. Johnson, S. Kondo, B. Schutte, M. Marazita, J. Murray
Sandra Daack-Hirsch
BACKGROUND: Cleft lip or palate (or the two in combination) is a common birth defect that results from a mixture of genetic and environmental factors. We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene. METHODS: We identified the gene that encodes interferon regulatory factor 6 (IRF6) as a candidate gene on the basis of its involvement in an autosomal dominant form of cleft lip and palate, Van der Woude's syndrome. A single-nucleotide polymorphism in this gene results in either a valine or …