Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

PubWeight™: 3.27‹?› | Rank: Top 1%

🔗 View Article (PMC 1274473)

Published in Am J Hum Genet on January 22, 2001

Authors

S A Slaugenhaupt1, A Blumenfeld, S P Gill, M Leyne, J Mull, M P Cuajungco, C B Liebert, B Chadwick, M Idelson, L Reznik, C Robbins, I Makalowska, M Brownstein, D Krappmann, C Scheidereit, C Maayan, F B Axelrod, J F Gusella

Author Affiliations

1: Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA, USA.

Articles citing this

(truncated to the top 100)

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs. Nature (2009) 7.04

tRNA biology charges to the front. Genes Dev (2010) 4.07

Alternative splicing and disease. Biochim Biophys Acta (2008) 3.47

An early step in wobble uridine tRNA modification requires the Elongator complex. RNA (2005) 3.01

Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis. Ann Neurol (2015) 2.80

Induced pluripotent stem cells--opportunities for disease modelling and drug discovery. Nat Rev Drug Discov (2011) 2.58

The pathobiology of splicing. J Pathol (2010) 2.52

Elongator is a histone H3 and H4 acetyltransferase important for normal histone acetylation levels in vivo. Proc Natl Acad Sci U S A (2002) 2.27

Derivation of neural crest cells from human pluripotent stem cells. Nat Protoc (2010) 2.05

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet (2004) 1.70

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet (2011) 1.66

Defects in tRNA modification associated with neurological and developmental dysfunctions in Caenorhabditis elegans elongator mutants. PLoS Genet (2009) 1.62

Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis (2007) 1.59

Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases. Hum Mol Genet (2010) 1.54

Pacemakers in patients with familial dysautonomia--a review of experience with 20 patients. Clin Auton Res (2005) 1.54

Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression. Clin Auton Res (2005) 1.52

The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation. PLoS Genet (2010) 1.45

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain (2009) 1.44

Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol (2012) 1.44

Progress in genetic studies of pain and analgesia. Annu Rev Pharmacol Toxicol (2009) 1.43

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet (2009) 1.37

Loss of a conserved tRNA anticodon modification perturbs cellular signaling. PLoS Genet (2013) 1.37

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP. Mol Cell Biol (2008) 1.35

Retracted Identification of an RNA-dependent RNA polymerase in Drosophila involved in RNAi and transposon suppression. Proc Natl Acad Sci U S A (2009) 1.27

Elongator function in tRNA wobble uridine modification is conserved between yeast and plants. Mol Microbiol (2010) 1.27

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet (2003) 1.26

Afferent baroreflex failure in familial dysautonomia. Neurology (2010) 1.25

Pluripotent stem cells in disease modelling and drug discovery. Nat Rev Mol Cell Biol (2016) 1.24

Pain genes. PLoS Genet (2008) 1.23

The Sirtuin 2 microtubule deacetylase is an abundant neuronal protein that accumulates in the aging CNS. Hum Mol Genet (2011) 1.17

An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig. Proc Natl Acad Sci U S A (2006) 1.17

Genetic basis of pain variability: recent advances. J Med Genet (2011) 1.14

Multifactorial interplay controls the splicing profile of Alu-derived exons. Mol Cell Biol (2008) 1.12

Genome-wide analysis of gene expression in primate taste buds reveals links to diverse processes. PLoS One (2009) 1.11

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics (2007) 1.08

Current treatments in familial dysautonomia. Expert Opin Pharmacother (2014) 1.06

Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome. J Hum Hypertens (2011) 1.05

Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia. Pediatr Res (2011) 1.02

Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome? Brain (2011) 0.99

Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons. Proc Natl Acad Sci U S A (2013) 0.98

Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia. PLoS One (2010) 0.98

Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells. PLoS One (2010) 0.98

Hyperdopaminergic crises in familial dysautonomia: a randomized trial of carbidopa. Neurology (2013) 0.97

Modeling pain in vitro using nociceptor neurons reprogrammed from fibroblasts. Nat Neurosci (2014) 0.96

Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality. PLoS One (2011) 0.95

IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration. PLoS One (2012) 0.95

Identification of novel tissue-specific genes by analysis of microarray databases: a human and mouse model. PLoS One (2013) 0.95

A world without pain or tears. Clin Auton Res (2006) 0.94

Elongator, a conserved complex required for wobble uridine modifications in eukaryotes. RNA Biol (2014) 0.94

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia. Hum Mol Genet (2012) 0.93

Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia. Am J Pathol (2015) 0.93

Induced pluripotent stem cells in the study of neurological diseases. Stem Cell Res Ther (2011) 0.93

A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation. Development (2014) 0.92

Cellular reprogramming: recent advances in modeling neurological diseases. J Neurosci (2011) 0.92

Modelling familial dysautonomia in human induced pluripotent stem cells. Philos Trans R Soc Lond B Biol Sci (2011) 0.92

Neural stem cells: mechanisms and modeling. Protein Cell (2012) 0.91

Crystal structure of elongator subcomplex Elp4-6. J Biol Chem (2012) 0.91

Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia. Proc Natl Acad Sci U S A (2015) 0.91

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Hum Mutat (2015) 0.91

Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression. PLoS Genet (2013) 0.90

Familial Dysautonomia: Mechanisms and Models. Genet Mol Biol (2016) 0.90

Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia. PLoS One (2011) 0.89

iPSCs and small molecules: a reciprocal effort towards better approaches for drug discovery. Acta Pharmacol Sin (2013) 0.89

Integrative assessment of chlorine-induced acute lung injury in mice. Am J Respir Cell Mol Biol (2012) 0.89

Chewing-induced hypertension in afferent baroreflex failure: a sympathetic response? Exp Physiol (2015) 0.88

Selective retinal ganglion cell loss in familial dysautonomia. J Neurol (2014) 0.88

DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator. J Biol Chem (2012) 0.88

Cardiac sympathetic hypo-innervation in familial dysautonomia. Clin Auton Res (2008) 0.87

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. Genome Biol (2015) 0.87

The Arabidopsis elongator complex subunit2 epigenetically regulates plant immune responses. Plant Cell (2013) 0.87

Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. J Neurol Neurosurg Psychiatry (2002) 0.86

Shades of gray: a comparison of linkage disequilibrium between Hutterites and Europeans. Genet Epidemiol (2010) 0.86

Enriched population of PNS neurons derived from human embryonic stem cells as a platform for studying peripheral neuropathies. PLoS One (2010) 0.85

4-Phenylbutyrate stimulates Hsp70 expression through the Elp2 component of elongator and STAT-3 in cystic fibrosis epithelial cells. J Biol Chem (2011) 0.85

A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers. Eur J Pediatr (2016) 0.84

Genetic variability of pain perception and treatment--clinical pharmacological implications. Eur J Clin Pharmacol (2011) 0.84

Neuroimaging supports central pathology in familial dysautonomia. J Neurol (2009) 0.84

Catecholamines 101. Clin Auton Res (2010) 0.84

Fine mapping of the 9q31 Hirschsprung's disease locus. Hum Genet (2010) 0.83

Limited complementarity between U1 snRNA and a retroviral 5' splice site permits its attenuation via RNA secondary structure. Nucleic Acids Res (2009) 0.83

Dimerization of elongator protein 1 is essential for Elongator complex assembly. Proc Natl Acad Sci U S A (2015) 0.83

Elongator: an ancestral complex driving transcription and migration through protein acetylation. J Biomed Biotechnol (2011) 0.83

Loss-of-function of IKAP/ELP1: could neuronal migration defect underlie familial dysautonomia? Cell Adh Migr (2008) 0.83

Involvement of IKAP in peripheral target innervation and in specific JNK and NGF signaling in developing PNS neurons. PLoS One (2014) 0.83

Obstructive Sleep-Disordered Breathing Is More Common than Central in Mild Familial Dysautonomia. J Clin Sleep Med (2016) 0.82

Feeder-free derivation of neural crest progenitor cells from human pluripotent stem cells. J Vis Exp (2014) 0.82

Specific correction of a splice defect in brain by nutritional supplementation. Hum Mol Genet (2011) 0.82

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. Hum Mol Genet (2016) 0.82

Structural basis for tRNA modification by Elp3 from Dehalococcoides mccartyi. Nat Struct Mol Biol (2016) 0.81

Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia. J Physiol (2012) 0.81

Elongator subunit 3 positively regulates plant immunity through its histone acetyltransferase and radical S-adenosylmethionine domains. BMC Plant Biol (2013) 0.81

Sudomotor function in familial dysautonomia. J Neurol Neurosurg Psychiatry (2004) 0.81

Renal transplantation in familial dysautonomia: report of two cases and review of the literature. Clin J Am Soc Nephrol (2010) 0.80

Motifs within the CA-repeat-rich region of Surfactant Protein B (SFTPB) intron 4 differentially affect mRNA splicing. J Mol Biochem (2013) 0.80

Modify or die?--RNA modification defects in metazoans. RNA Biol (2014) 0.80

Neurodegenerative diseases in a dish: the promise of iPSC technology in disease modeling and therapeutic discovery. Neurol Sci (2014) 0.80

Increased frequency of rhabdomyolysis in familial dysautonomia. Muscle Nerve (2015) 0.79

A conserved and essential basic region mediates tRNA binding to the Elp1 subunit of the Saccharomyces cerevisiae Elongator complex. Mol Microbiol (2014) 0.79

Modeling neurological disorders by human induced pluripotent stem cells. J Biomed Biotechnol (2011) 0.79

Plasma catechols in familial dysautonomia: a long-term follow-up study. Neurochem Res (2008) 0.79

Articles cited by this

Sequence and structure-based prediction of eukaryotic protein phosphorylation sites. J Mol Biol (1999) 15.63

Elongator, a multisubunit component of a novel RNA polymerase II holoenzyme for transcriptional elongation. Mol Cell (1999) 4.49

IKAP is a scaffold protein of the IkappaB kinase complex. Nature (1998) 3.28

Familial dysautonomia: diagnosis, pathogenesis and management. Adv Pediatr (1974) 2.60

Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J Neurol Sci (1978) 1.87

Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia. J Neurol Sci (1978) 1.51

The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component. J Biol Chem (2000) 1.49

Incidence of familial dysautonomia in Israel 1977-1981. Clin Genet (1987) 1.43

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet (1993) 1.36

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet (1999) 1.30

Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia. J Neurol Sci (1978) 1.25

Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Child (1984) 1.19

Molecular cloning of a novel NF2/ERM/4.1 superfamily gene, ehm2, that is expressed in high-metastatic K1735 murine melanoma cells. Genomics (2000) 1.09

Identification and chromosomal localization of CTNNAL1, a novel protein homologous to alpha-catenin. Genomics (1998) 1.07

Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Genomics (1999) 1.06

Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene. Gene (1999) 0.97

Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Mamm Genome (2000) 0.92

Articles by these authors

A polymorphic DNA marker genetically linked to Huntington's disease. Nature (1984) 16.71

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology (1993) 14.54

Construction of a GT polymorphism map of human 9q. Genomics (1992) 8.92

Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29

Abscisic Acid and transpiration in leaves in relation to osmotic root stress. Plant Physiol (1970) 7.92

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro (1984) 7.23

Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci U S A (1980) 5.76

The glucocorticoid receptor binds to defined nucleotide sequences near the promoter of mouse mammary tumour virus. Nature (1983) 5.76

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet (1993) 5.70

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet (1997) 5.39

Rapid induction of Alzheimer A beta amyloid formation by zinc. Science (1994) 5.34

High-efficiency cloning of full-length cDNA; construction and screening of cDNA expression libraries for mammalian cells. Methods Enzymol (1987) 5.08

Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature (1988) 4.83

The association of social relationships and activities with mortality: prospective evidence from the Tecumseh Community Health Study. Am J Epidemiol (1982) 4.42

Identification and purification of a human immunoglobulin-enhancer-binding protein (NF-kappa B) that activates transcription from a human immunodeficiency virus type 1 promoter in vitro. Proc Natl Acad Sci U S A (1988) 4.33

CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol (1997) 4.01

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 3.87

Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med (1988) 3.82

Cloning of the DNA-binding subunit of human nuclear factor kappa B: the level of its mRNA is strongly regulated by phorbol ester or tumor necrosis factor alpha. Proc Natl Acad Sci U S A (1991) 3.80

A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res (1998) 3.77

Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet (2002) 3.67

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet (1997) 3.64

Glucocorticoid and progesterone receptors bind to the same sites in two hormonally regulated promoters. Nature (1985) 3.45

NF-kappaB function in growth control: regulation of cyclin D1 expression and G0/G1-to-S-phase transition. Mol Cell Biol (1999) 3.42

Abscisic Acid and cytokinin contents of leaves in relation to salinity and relative humidity. Plant Physiol (1971) 3.40

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature (1986) 3.40

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci (1998) 3.24

Constitutive nuclear factor-kappaB-RelA activation is required for proliferation and survival of Hodgkin's disease tumor cells. J Clin Invest (1997) 3.22

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12

Insulin receptors are widely distributed in the central nervous system of the rat. Nature (1978) 3.07

DNA markers for nervous system diseases. Science (1984) 3.02

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98

Inactivation of the mouse Huntington's disease gene homolog Hdh. Science (1995) 2.96

Evidence for a prostate cancer susceptibility locus on the X chromosome. Nat Genet (1998) 2.90

Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res (1987) 2.83

Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet (1998) 2.81

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature (1990) 2.80

Huntington's disease. Pathogenesis and management. N Engl J Med (1986) 2.77

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet (2000) 2.67

Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev (1998) 2.66

Contacts between hormone receptor and DNA double helix within a glucocorticoid regulatory element of mouse mammary tumor virus. Proc Natl Acad Sci U S A (1984) 2.64

Familial dysautonomia: diagnosis, pathogenesis and management. Adv Pediatr (1974) 2.60

CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet (1999) 2.60

The A beta peptide of Alzheimer's disease directly produces hydrogen peroxide through metal ion reduction. Biochemistry (1999) 2.58

The ankyrin repeat domains of the NF-kappa B precursor p105 and the protooncogene bcl-3 act as specific inhibitors of NF-kappa B DNA binding. Proc Natl Acad Sci U S A (1992) 2.56

Candidate proto-oncogene bcl-3 encodes a subunit-specific inhibitor of transcription factor NF-kappa B. Nature (1992) 2.50

Cytokinin and inhibitor activities in the avocado fruit mesocarp. Plant Physiol (1970) 2.48

Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science (1998) 2.42

Analysing and presenting qualitative data. Br Dent J (2008) 2.37

Molecular cloning and expression of the cDNA for the alpha 1A-adrenergic receptor. The gene for which is located on human chromosome 5. J Biol Chem (1991) 2.35

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32

Activation of NF-kappa B in vivo is regulated by multiple phosphorylations. EMBO J (1994) 2.31

Relatively short diagnostic delays (<8 hours) produce morbidity and mortality in blunt small bowel injury: an analysis of time to operative intervention in 198 patients from a multicenter experience. J Trauma (2000) 2.31

Cu(II) potentiation of alzheimer abeta neurotoxicity. Correlation with cell-free hydrogen peroxide production and metal reduction. J Biol Chem (1999) 2.30

Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science (1997) 2.30

Improved predictive testing for Huntington disease by using three linked DNA markers. Am J Hum Genet (1988) 2.28

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet (1991) 2.23

Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucleic Acids Res (1990) 2.23

Glucocorticoid receptors recognize DNA sequences in and around murine mammary tumour virus DNA. EMBO J (1982) 2.21

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet (1999) 2.20

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature (1985) 2.19

Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum Genet (1986) 2.18

Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Res (1998) 2.17

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology (2008) 2.16

The Bcl-3 oncoprotein acts as a bridging factor between NF-kappaB/Rel and nuclear co-regulators. Oncogene (1999) 2.15

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet A (2003) 2.15

Transcriptional regulation of the HIV-1 promoter by NF-kappa B in vitro. Genes Dev (1992) 2.12

Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science (1987) 2.06

NF-kappaB and the innate immune response. Curr Opin Immunol (2000) 2.04

Different mechanisms control signal-induced degradation and basal turnover of the NF-kappaB inhibitor IkappaB alpha in vivo. EMBO J (1996) 1.97

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet (1989) 1.95

Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. Proc Natl Acad Sci U S A (1995) 1.94

Undergraduate orthodontic & paediatric dentistry education in Europe--the DentEd project. J Orthod (2001) 1.93

The NF-kappa B precursor p105 and the proto-oncogene product Bcl-3 are I kappa B molecules and control nuclear translocation of NF-kappa B. EMBO J (1993) 1.90

Molecular hybridization under conditions of high stringency permits cloned DNA segments containing reiterated DNA sequences to be assigned to specific chromosomal locations. Proc Natl Acad Sci U S A (1984) 1.88

NF-kappaB p105 is a target of IkappaB kinases and controls signal induction of Bcl-3-p50 complexes. EMBO J (1999) 1.87

Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet (2007) 1.86

An improved approach to prepare human brains for research. J Neuropathol Exp Neurol (1995) 1.84

Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet (1991) 1.84

Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences. Proc Natl Acad Sci U S A (1982) 1.83

High-level nuclear NF-kappa B and Oct-2 is a common feature of cultured Hodgkin/Reed-Sternberg cells. Blood (1996) 1.82

Ubiquitous transcription factor OTF-1 mediates induction of the MMTV promoter through synergistic interaction with hormone receptors. Cell (1991) 1.81

Genetic linkage map of human chromosome 21. Genomics (1988) 1.79

Common structural constituents confer I kappa B activity to NF-kappa B p105 and I kappa B/MAD-3. EMBO J (1993) 1.77

Induction of erythroid differentiation in vitro by purines and purine analogues. Cell (1976) 1.76

Methods of data collection in qualitative research: interviews and focus groups. Br Dent J (2008) 1.75

Maintenance of NF-kappa B activity is dependent on protein synthesis and the continuous presence of external stimuli. Mol Cell Biol (1991) 1.74

Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins. Somat Cell Mol Genet (1998) 1.72

Molecular mechanisms of constitutive NF-kappaB/Rel activation in Hodgkin/Reed-Sternberg cells. Oncogene (1999) 1.71

What women want - quantifying the perception of hair amount: an analysis of hair diameter and density changes with age in caucasian women. Br J Dermatol (2012) 1.69

Requirement of NF-kappaB/Rel for the development of hair follicles and other epidermal appendices. Development (2001) 1.69