Research Topics
Genomes and Genes | M MuenkeSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Genetics of ventral forebrain development and holoprosencephalyM Muenke
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1852, USA
Curr Opin Genet Dev 10:262-9. 2000..Perturbation of signaling pathways involving these molecules have been shown to cause holoprosencephaly in humans and other organisms...- Genetic approaches to understanding brain development: holoprosencephaly as a modelM Muenke
The Children s Hospital of Philadelphia, Division of Neurology, Philadelphia, Pennsylvania
Ment Retard Dev Disabil Res Rev 6:15-21. 2000..These discoveries and current genetic approaches serve as a paradigm for studying normal and abnormal brain morphogenesis. MRDD Research Reviews 6:15-21, 2000... - Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defectsR N Bamford
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 26:365-9. 2000..Moreover, our results support a role for environmental and/or genetic modifiers in determining the ultimate phenotype in humans... - SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literatureL Nanni
Department of Pediatrics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Am J Med Genet 102:1-10. 2001..Our results suggest that this mutation may be specific for the SMMCI phenotype since it has not been found in the HPE population or in normal controls. Published 2001 Wiley-Liss, Inc... - Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolateM Arcos-Burgos
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1852, USA
Mol Psychiatry 9:252-9. 2004..These results provide further evidence for the association of ADHD to genetic variation in or near to DRD4 and replicate the previously reported association between ADHD and the 7R allele... - Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determinationK W Gripp
The Children s Hospital of Philadelphia, Departments of Pediatrics, Genetics and Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Nat Genet 25:205-8. 2000..Several of these mutations cause a loss of TGIF function. Thus, TGIF links the NODAL signalling pathway to the bifurcation of the human forebrain and the establishment of ventral midline structures... 
A cooperative interaction between LPHN3 and 11q doubles the risk for ADHDM Jain
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Mol Psychiatry 17:741-7. 2012....- The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephalyL Nanni
Departments of Pediatrics and Genetics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 4399, USA
Hum Mol Genet 8:2479-88. 1999.... - Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humansJ D Karkera
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 81:987-94. 2007..These findings implicate perturbations of the TGF- beta signaling pathway in the causation of a major subclass of human CHDs... - The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephalyJ D Karkera
Medical Genetics Branch, National Human Genome Research Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Cytogenet Genome Res 97:62-7. 2002.... - Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotypeC Bendavid
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Building 35, Room 1B-203, Bethesda, MD 20892-3717, USA
J Med Genet 43:496-500. 2006..Based on our data, microdeletion testing should be considered as part of an evaluation of holoprosencephaly, especially in severe HPE cases... - Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndromeL R Cornejo-Roldan
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Hum Genet 104:425-31. 1999..The mutational spectrum displays a non-random character with the frequent involvement of cysteine codons... - Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type IIIK W Gripp
Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
Am J Med Genet 78:356-60. 1998..J. Hum. Genet. 4: 283-291, 1996]. In our patient, previously performed single-strand conformation polymorphism analysis failed to detect a band shift; the mutation was identified only after independent sequence analysis... - Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephalyI M Orioli
Department of Pediatrics and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Hum Genet 109:1-6. 2001..These molecular results explained 8% (2/26 newborn samples) of the HPE cases in this South American population-based sample, a proportion similar to our previously published data from a collection of cases... - Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)E Roessler
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD 20892 1852, USA
Hum Genet 105:489-95. 1999.... - Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Building 35, Room 1B 203, Bethesda, MD 20892 3717, USA
J Med Genet 46:389-98. 2009..There are several important HPE mutational target genes, including the transcription factor SIX3, which encodes an early regulator of Shh, Wnt, Bmp and Nodal signalling expressed in the developing forebrain and eyes of all vertebrates... - The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephalyE Roessler
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Cytogenet Cell Genet 89:220-4. 2000..2. Functional analysis of four missense mutations identified in HPE patients revealed preserved activity in head induction assays in frogs suggesting a limited role for this gene in HPE pathogenesis... 
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medicationM Arcos-Burgos
National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
Mol Psychiatry 15:1053-66. 2010..Linkage and replicated association of ADHD with a novel non-candidate gene (LPHN3) provide new insights into the genetics, neurobiology, and treatment of ADHD...- A two-locus genetic interaction between LPHN3 and 11q predicts ADHD severity and long-term outcomeM T Acosta
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3717, USA
Transl Psychiatry 1:e17. 2011..All these genes are identified to have a major role in shaping both brain development and function. These findings demonstrate that genetic interactions may predict the severity of ADHD, which in turn may predict long-term ADHD outcome... - Mutations in the homeodomain of the human SIX3 gene cause holoprosencephalyD E Wallis
The Children s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, 19104 4399, USA
Nat Genet 22:196-8. 1999..We propose that SIX3 is the HPE2 gene, essential for the development of the anterior neural plate and eye in humans... - Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domainK Gaudenz
Department of Pediatrics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, USA
Am J Hum Genet 63:703-10. 1998..These data suggest that this conserved domain of the B-box proteins may play a fundamental role in the pathogenesis of Opitz syndrome and in morphogenetic events at the midline during blastogenesis... - Midline and laterality defects: left and right meet in the middleE Roessler
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Bioessays 23:888-900. 2001..Here we summarize the findings in animal models that indicate that both defects can be explained by mechanisms that relate to the proper development of the axial midline in vertebrates. Published 2001 John Wiley & Sons, Inc... - Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31G Feldman
Department of Orthopaedic Surgery, The University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6081, USA
Am J Hum Genet 66:128-35. 2000..Crossover events localize the putative FOP gene within a 36-cM interval bordered proximally by D4S1625 and distally by D4S2417. This interval contains at least one gene involved in the bone morphogenetic protein-signaling pathway... - Attention-deficit/hyperactivity disorder (ADHD): feasibility of linkage analysis in a genetic isolate using extended and multigenerational pedigreesM Arcos-Burgos
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Clin Genet 61:335-43. 2002.... - A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeM Muenke
Department of Pediatrics, University of Pennsylvania, Philadelphia, USA
Am J Hum Genet 60:555-64. 1997..Therefore, this mutation should be tested for in patients with coronal synostosis... - Mutations in the human Sonic Hedgehog gene cause holoprosencephalyE Roessler
Children s Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Pennsylvania, USA
Nat Genet 14:357-60. 1996..Two of these mutations predict premature termination of the SHH protein, whereas the others alter highly conserved residues in the vicinity of the alpha-helix-1 motif or signal cleavage site... - Physical mapping of the holoprosencephaly critical region in 18p11.3J Overhauser
Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, USA
Am J Hum Genet 57:1080-5. 1995..By using a set of 27 chromosome 18p-specific markers, the deletion in each patient was characterized. The HPE minimal critical region on 18p was defined on a molecular level, localizing the HPE4 gene to 18p11.3...