Published in Gene Expr Patterns on May 01, 2003
Activation and function of the MAPKs and their substrates, the MAPK-activated protein kinases. Microbiol Mol Biol Rev (2011) 5.02
Characterization of mouse Rsk4 as an inhibitor of fibroblast growth factor-RAS-extracellular signal-regulated kinase signaling. Mol Cell Biol (2004) 1.08
Basic anatomy and tumor biology of the RPS6KA6 gene that encodes the p90 ribosomal S6 kinase-4. Oncogene (2012) 0.84
Origin and evolution of candidate mental retardation genes on the human X chromosome (MRX). BMC Genomics (2008) 0.82
RSK2 signaling in brain habenula contributes to place aversion learning. Learn Mem (2011) 0.81
RSK2 is a modulator of craniofacial development. PLoS One (2014) 0.77
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat (2010) 2.67
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
SHARP is a novel component of the Notch/RBP-Jkappa signalling pathway. EMBO J (2002) 2.26
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet (2006) 2.11
Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (2010) 1.72
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat (2011) 1.53
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evol Biol (2009) 1.40
Wide genome comparisons reveal the origins of the human X chromosome. Trends Genet (2004) 1.39
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat (2004) 1.34
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet (2006) 1.33
Reconstruction of a 450-My-old ancestral vertebrate protokaryotype. Trends Genet (2006) 1.29
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. Am J Med Genet A (2006) 1.19
Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17. Am J Hum Genet (2002) 1.19
Recent assembly of an imprinted domain from non-imprinted components. PLoS Genet (2006) 1.17
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat (2011) 1.14
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes). Hum Mutat (2005) 1.10
Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). Acta Neuropathol (2002) 1.09
Abnormal organogenesis of Peyer's patches in mice deficient for NF-kappaB1, NF-kappaB2, and Bcl-3. Gastroenterology (2002) 1.09
Evolutionary history and genome organization of DUF1220 protein domains. G3 (Bethesda) (2012) 1.08
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. Genes Chromosomes Cancer (2003) 1.02
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. Hum Mutat (2011) 1.01
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization. Hum Genet (2006) 0.99
Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16. Genome Res (2005) 0.98
Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates. Hum Genet (2004) 0.98
RITA, a novel modulator of Notch signalling, acts via nuclear export of RBP-J. EMBO J (2010) 0.94
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet (2007) 0.94
Exploring the potential relevance of human-specific genes to complex disease. Hum Genomics (2011) 0.93
Identification of circadian-clock-regulated enhancers and genes of Drosophila melanogaster by transposon mobilization and luciferase reporting of cyclical gene expression. Genetics (2002) 0.93
Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees. Hum Genet (2005) 0.92
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Hum Mutat (2011) 0.91
Targeting a DNA binding motif of the EVI1 protein by a pyrrole-imidazole polyamide. Biochemistry (2011) 0.91
Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages. Chromosome Res (2009) 0.90
A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Hum Mutat (2009) 0.90
Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes. Chromosome Res (2009) 0.89
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. Hum Mutat (2010) 0.88
Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes. Hum Genet (2006) 0.88
Elucidation of the complex structure and origin of the human trypsinogen locus triplication. Hum Mol Genet (2009) 0.85
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Hum Mutat (2010) 0.85
An isochore transition zone in the NF1 gene region is a conserved landmark of chromosome structure and function. Genomics (2005) 0.85
Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9. Genomics (2005) 0.84
Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions. Genes Chromosomes Cancer (2012) 0.84
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet (2008) 0.84
Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication. Hum Genet (2002) 0.83
Murine pancreatic tumor cell line TD2 bears the characteristic pattern of genetic changes with two independently amplified gene loci. Oncogene (2003) 0.83
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. Hum Mutat (2010) 0.83
Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting). Chromosome Res (2007) 0.83
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Genome Biol (2014) 0.82
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Hum Mutat (2010) 0.82
A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases. Eur J Hum Genet (2004) 0.82
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. J Mol Diagn (2009) 0.82
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes. Hum Mutat (2011) 0.81
Pattern of secondary genomic changes in pancreatic tumors of Tgf alpha/Trp53+/- transgenic mice. Genes Chromosomes Cancer (2003) 0.81
Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas. J Invest Dermatol (2008) 0.81
Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies. Am J Med Genet A (2003) 0.81
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions. Eur J Hum Genet (2008) 0.80
Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome. Hum Genet (2005) 0.80
Proliferation and growth factor expression in abnormally enlarged placentas of mouse interspecific hybrids. Dev Dyn (2002) 0.80
The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscus. Genomics (2006) 0.79
Copy number variation and disease. Preface. Cytogenet Genome Res (2008) 0.78
Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders. Hum Genet (2011) 0.78
Childhood overgrowth in patients with common NF1 microdeletions. Eur J Hum Genet (2005) 0.78
Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion. Hum Genet (2014) 0.78
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. Hum Mutat (2012) 0.77
Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination. Hum Mutat (2013) 0.77
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. Hum Mutat (2011) 0.77
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. Hum Mutat (2012) 0.76
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions. BMC Med Genet (2012) 0.76
Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply. Hum Genet (2003) 0.75
Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. Acta Neuropathol (2014) 0.75
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. J Med Case Rep (2011) 0.75
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations. Hum Genomics (2011) 0.75
Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis. Genomic Med (2007) 0.75
Frequency of cancer genes on the chicken z chromosome and its human homologues: implications for sex chromosome evolution. Comp Funct Genomics (2007) 0.75
Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation. Pediatr Res (2005) 0.75
Characterization of Pisrt1/Foxl2 in Ellobius lutescens and exclusion as sex-determining genes. Mamm Genome (2005) 0.75
Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions? Hum Mutat (2010) 0.75