Genomes and Genes
Affiliation: Johns Hopkins University
- Nail patella syndrome revisited: 50 years after linkageI McIntosh
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway BRB 407, Baltimore, MD 21205, USA
Ann Hum Genet 69:349-63. 2005....
- Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populationsT H Beaty
Johns Hopkins University, Baltimore, MD, USA
Hum Genet 120:501-18. 2006....
- Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996T H Beaty
Department of Epidemiology, School of Hygiene and Public Health, Johns Hopkins University, Baltimore, Maryland 21205, USA
Cleft Palate Craniofac J 34:447-54. 1997....
- A case-control study of nonsyndromic oral clefts in MarylandT H Beaty
The Johns Hopkins University, Baltimore, MD, USA
Ann Epidemiol 11:434-42. 2001..MSX1 showed evidence of linkage disequilibrium in both case-control and case-parent trio analysis...
- Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndromeJ D Hamlington
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore 21287 4922, USA
Eur J Hum Genet 8:311-4. 2000..RNA analysis demonstrated that deletion of the branchpoint sequence resulted in skipping of the downstream exon. A mechanism to explain this phenomenon is presented...
- Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex familiesD F Wyszynski
Department of Epidemiology, School of Hygiene and Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
Hum Genet 99:22-6. 1997..001) and for allele 13 of the D19S178 marker in the Mexican data set (P = 0.004). These results support an association, possibly due to linkage disequilibrium, between chromosome 19 markers and a putative NSCL/P locus...
- High throughput SNP and expression analyses of candidate genes for non-syndromic oral cleftsJ W Park
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
J Med Genet 43:598-608. 2006..Advances in high-throughput genotyping technology now make it possible to test multiple markers in many candidate genes simultaneously...
- Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndromeJ A Dunston
Predoctoral Program in Human Genetics and Molecular Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Ann Hum Genet 69:1-8. 2005..5), further work is required to identify the elements associated with the LMX1B gene that mediate phenotypic severity...
- Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patientsM V Clough
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287 4922, USA
Hum Mutat 14:459-65. 1999..These findings support the hypothesis that NPS results from a 50% reduction in LMX1B function via a reduction in synthesis, disruption of secondary structure, or failure to bind DNA...
- Haplotype diversity in 11 candidate genes across four populationsT H Beaty
Department of Epidemiology, Johns Hopkins University, Baltimore, Maryland 21205, USA
Genetics 171:259-67. 2005..Such haplotype diversity has implications for designing studies of association involving samples from genetically distinct populations...
- Fine mapping of the nail-patella syndrome locus at 9q34I McIntosh
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287 4922, USA
Am J Hum Genet 60:133-42. 1997..0; theta = .00) and D9S315 (LOD = 22.0; theta = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylate kinase gene (AK1)...
- Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patientsJ D Hamlington
Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
Hum Mutat 18:458. 2001..The type and distribution of the mutations is consistent with the hypothesis that NPS is the result of haploinsufficiency for LMX1B...
- Testing candidate genes for non-syndromic oral clefts using a case-parent trio designTerri H Beaty
Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, 615 N Wolfe Street, Baltimore, MD 21205, USA
Genet Epidemiol 22:1-11. 2002..03). Using a conditional logistic model to test for gene-gene interaction showed no evidence of interaction between TGFbeta3 and MSX1, with both seeming to contribute independently to risk of isolated, non-syndromic oral clefts...
- Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndromeR A Montgomery
Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Am J Hum Genet 63:1703-11. 1998..These data have immediate relevance for the diagnostic and prognostic counseling of patients and their family members...
- Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivationB R Migeon
McKusick Nathans Institute of Genetic Medicine and Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA
Am J Hum Genet 69:951-60. 2001..These differences could explain the fact that X inactivation is not imprinted in human placenta, and they raise questions about the role of TSIX in random X inactivation...
- Mutation analysis of LMX1B gene in nail-patella syndrome patientsI McIntosh
Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
Am J Hum Genet 63:1651-8. 1998..The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations...
- Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsG Nijbroek
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Am J Hum Genet 57:8-21. 1995....
- Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndromeS Sood
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nat Genet 12:209-11. 1996..Our recent observation that FBN1 transcript is expressed as early as the 8-cell stage of human embryogenesis is consistent with this hypothesis...
- Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndromeH C Dietz
Division of Pediatric Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
Genomics 17:468-75. 1993..These data support a role for altered calcium binding to EGF-like domains in the pathogenesis of Marfan syndrome and suggest a dominant negative mechanism for the pathogenesis of this disorder...
- Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagenI McIntosh
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Hum Mutat 5:121-5. 1995....
- Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndromeD Vollrath
Department of Genetics, Stanford University, Stanford, CA 94305, USA
Hum Mol Genet 7:1091-8. 1998..The results further suggest that the NPS and OAG phenotypes in the families studied result from mutations in a single gene, LMX1B...
- Nail patella syndrome: a review of the phenotype aided by developmental biologyE Sweeney
Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK
J Med Genet 40:153-62. 2003..NPS is caused by loss of function mutations in the transcription factor LMX1B at 9q34. The expansion of the clinical phenotype is supported by the role of LMX1B during development...
- A type X collagen mutation causes Schmid metaphyseal chondrodysplasiaM L Warman
Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
Nat Genet 5:79-82. 1993..This mutation may prevent association of the mutant polypeptide during trimer formation, resulting in a decreased amount of normal protein...
- Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locusI McIntosh
Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21287
Hum Mol Genet 3:303-7. 1994..All three mutations are in the carboxy-terminal non-collagenous domain suggesting that the effect of these mutations is to impair the mutant polypeptide's ability to participate in chain association and trimer formation...
- A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 geneP L Tavormina
Department of Biological Chemistry, University of California, Irvine, CA, USA
Am J Hum Genet 64:722-31. 1999..We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations...