Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
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J. Rosenfeld | L. Vissers | H. Peeters | J. Gécz | B. D. de Vries | C. Romano | E. Eichler | E. Bertini | I. Thiffault | R. Bernier | R. Earl | A. Nordgren | A. Afenjar | L. Bird | T. Nowakowski | A. Lindstrand | K. Xia | S. Srivastava | Hui Guo | A. Lehman | S. McKee | J. Thevenon | J. Friedman | M. Wright | D. Lessel | C. Bacino | G. Mirzaa | L. Faivre | M. Elia | C. Zweier | Tianyun Wang | C. Fagerberg | Antje Wiesener | A. Basinger | G. Zanni | O. Elpeleg | Kendra Hoekzema | M. Kvarnung | S. Maitz | Chang N. Kim | B. Callewaert | Itai Berger | F. Kooy | K. V. van Gassen | C. Mignot | M. Meuwissen | B. Keren | F. Petit | K. Sørensen | M. Iascone | P. Atwal | Marleen E. H. Simon | C. Brasch-Andersen | T. Feyma | E. Lopez-Rangel | J. Pappas | O. Galesi | M. Nordenskjold | P. Levy | Rachel K. Earl | Divya Vats | D. Vats | A. Cereda | A. Vitobello | M. Bournez | S. Hughes | Micah Pepper | M. Kukolich | I. Anselm | L. K. Hansen | Gifty Bhat | Irene Valenzuela Palafoll | E. Torti | R. Stratton | Pengfei Liu | Suneeta Madan‐Khetarpal | M. Gillentine | Jodie M. Vento | B. Sullivan | Kara L Simpson | Farida Abid | M. Drummond-Borg | T. Lotze | Jessica Sebastian | S. Schuhmann | A. Scatigno | Candace Muss | Sabeena Syed | M. Lauridsen | Kerry M. White | Kory Keller | Heena Panjwani | Katherine Cobian | Sophie Mathieu | Celenie K. Christensen | Edward J. Espineli | Shuang Yan | Meredith Philips | Lucia Ortega | L. M. Benman | Mathilde F Lauridsen | Bonnie R. Sullivan | Alice A. Basinger | Agnese Scatigno | Edward Espineli
[1] Patrick J. Short,et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data , 2020, Nature.
[2] Richard A Marini,et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders , 2020, Nature Communications.
[3] N. Matsumoto,et al. Clinical and genetic characteristics of patients with Doose syndrome , 2020, Epilepsia open.
[4] Y. Shiraishi,et al. Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities , 2020, Molecular genetics & genomic medicine.
[5] G. Rubboli,et al. Utility of genetic testing for therapeutic decision‐making in adults with epilepsy , 2020, Epilepsia.
[6] A. Fry,et al. Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review , 2020, American journal of medical genetics. Part A.
[7] V. Benoit,et al. A second case of Okamoto syndrome caused by HNRNPK mutation , 2020, American journal of medical genetics. Part A.
[8] M. Daly,et al. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders , 2020, Genome Medicine.
[9] S. Ellard,et al. HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome , 2020, Clinical genetics.
[10] A. Vignoli,et al. Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype , 2020, American journal of medical genetics. Part A.
[11] Matthew W. Mosconi,et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism , 2019, Cell.
[12] K. Girisha,et al. Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2 , 2020, American journal of medical genetics. Part A.
[13] M. Tassabehji,et al. GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes , 2019, Nature Genetics.
[14] Bernardo Luis Sabatini,et al. Abnormal Striatal Development Underlies the Early Onset of Behavioral Deficits in Shank3B−/− Mice , 2019, Cell reports.
[15] Richard A Marini,et al. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes , 2019, npj Genomic Medicine.
[16] G. Vriend,et al. Front Cover, Volume 40, Issue 8 , 2019, Human Mutation.
[17] D. Andrade,et al. Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability , 2019, Epilepsia.
[18] R. Casadio,et al. PhenPath: a tool for characterizing biological functions underlying different phenotypes , 2019, BMC Genomics.
[19] R. Murray,et al. Differential gene expression analysis in blood of first episode psychosis patients , 2019, Schizophrenia Research.
[20] M. Wlodarski,et al. HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans. , 2019, American journal of human genetics.
[21] M. Farrer,et al. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy , 2019, Frontiers in neurology.
[22] M. Daly,et al. Identification of pathogenic variant enriched regions across genes and gene families , 2019, bioRxiv.
[23] N. Okamoto. Okamoto syndrome has features overlapping with Au–Kline syndrome and is caused by HNRNPK mutation , 2019, American journal of medical genetics. Part A.
[24] S. Szelinger,et al. Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2 , 2019, Clinical genetics.
[25] R. Marioni,et al. An epigenome-wide association study of sex-specific chronological ageing , 2019, Genome Medicine.
[26] I. Scheffer,et al. The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield , 2019, Epilepsia.
[27] T. Haack,et al. Bain type of X‐linked syndromic mental retardation in boys , 2019, Clinical genetics.
[28] H. Mefford,et al. Diagnostic implications of genetic copy number variation in epilepsy plus , 2019, Epilepsia.
[29] G. Vriend,et al. MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains , 2019, bioRxiv.
[30] Amanda B. Spurdle,et al. A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity , 2018, Bioinform..
[31] K. Czaplinski,et al. Hnrnpab regulates neural cell motility through transcription of Eps8 , 2018, RNA.
[32] Xin-Ming Shen,et al. Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain , 2019, Journal of Neurology.
[33] Bradley P. Coe,et al. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes , 2018, Genetics in Medicine.
[34] Antoine de Chevigny,et al. Disorders of neurogenesis and cortical development , 2018, Dialogues in clinical neuroscience.
[35] Kyong-Tai Kim,et al. hnRNP Q Regulates Internal Ribosome Entry Site-Mediated fmr1 Translation in Neurons , 2018, Molecular and Cellular Biology.
[36] Trygve E Bakken,et al. Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity , 2018, Nature Genetics.
[37] H. El-Bassyouni,et al. Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation , 2018, Molecular Cytogenetics.
[38] H. El-Bassyouni,et al. Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation , 2018, Molecular Cytogenetics.
[39] J. Takanashi,et al. An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU , 2018, Brain and Development.
[40] R. Płoski,et al. Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation , 2018, Clinical genetics.
[41] Ivan K. Chinn,et al. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. , 2018, American journal of human genetics.
[42] W. Rossoll,et al. mRNP assembly, axonal transport, and local translation in neurodegenerative diseases , 2018, Brain Research.
[43] L. Harries,et al. Mitochondria-targeted hydrogen sulfide attenuates endothelial senescence by selective induction of splicing factors HNRNPD and SRSF2 , 2018, Aging.
[44] K. Devriendt,et al. Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature , 2018, European Journal of Human Genetics.
[45] M. Swertz,et al. The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports , 2018, European Journal of Human Genetics.
[46] Y. Yen,et al. The EGF/hnRNP Q1 axis is involved in tumorigenesis via the regulation of cell cycle-related genes , 2018, Experimental & Molecular Medicine.
[47] J. Taylor,et al. Linking hnRNP Function to ALS and FTD Pathology , 2018, Front. Neurosci..
[48] R. Rosch,et al. Incorporating epilepsy genetics into clinical practice: a 360°evaluation , 2018, npj Genomic Medicine.
[49] C. Depienne,et al. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients , 2018, Clinical genetics.
[50] M. Digilio,et al. Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency , 2018, Clinical genetics.
[51] P. Campolongo,et al. Impaired repair of DNA damage is associated with autistic-like traits in rats prenatally exposed to valproic acid , 2018, European Neuropsychopharmacology.
[52] Haiyuan Yu,et al. Interactome INSIDER: a structural interactome browser for genomic studies , 2017, Nature Methods.
[53] Y. Yurov,et al. 4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects , 2017, Current genomics.
[54] Alex A. Pollen,et al. Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex , 2017, Science.
[55] David S. Greenberg,et al. Alzheimer's brains show inter-related changes in RNA and lipid metabolism , 2017, Neurobiology of Disease.
[56] Z. Stark,et al. De novo mutations in HNRNPU result in a neurodevelopmental syndrome , 2017, American journal of medical genetics. Part A.
[57] Magalie S Leduc,et al. Clinical and molecular characterization of de novo loss of function variants in HNRNPU , 2017, American journal of medical genetics. Part A.
[58] A. Takata,et al. A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK , 2017, Clinical genetics.
[59] John Wei,et al. Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders , 2017, bioRxiv.
[60] Michael D. Wilson,et al. A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome , 2017, American journal of medical genetics. Part A.
[61] T. Wieland,et al. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability , 2017, Human Genetics.
[62] J. Stoler,et al. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU , 2017, Human Genetics.
[63] B. Frey,et al. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder , 2017, Nature Neuroscience.
[64] Bradley P. Coe,et al. Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases , 2017, Nature Genetics.
[65] M. Živin,et al. Synaptotagmin 7 and SYNCRIP proteins are ubiquitously expressed in the rat brain and co-localize in Purkinje neurons , 2017, Journal of Chemical Neuroanatomy.
[66] Joan,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[67] Deciphering Developmental Disorders Study,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[68] Petr Danecek,et al. BCFtools/csq: haplotype-aware variant consequences , 2016, bioRxiv.
[69] Raphael A. Bernier,et al. denovo-db: a compendium of human de novo variants , 2016, Nucleic Acids Res..
[70] M. A. Basson,et al. The neuroanatomy of autism – a developmental perspective , 2016, Journal of anatomy.
[71] W. Chung,et al. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. , 2016, American journal of human genetics.
[72] I. Lebedev,et al. A de novo microtriplication at 4q21.21‐q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech , 2016, American journal of medical genetics. Part A.
[73] L. Vissers,et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability , 2016, Nature Neuroscience.
[74] Manuela Pendziwiat,et al. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients , 2016, Molecular genetics & genomic medicine.
[75] Urs Meyer,et al. DNA Damage and Repair in Schizophrenia and Autism: Implications for Cancer Comorbidity and Beyond , 2016, International journal of molecular sciences.
[76] V. Timmerman,et al. The hnRNP family: insights into their role in health and disease , 2016, Human Genetics.
[77] C. Ernst. Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders , 2016, Trends in Neurosciences.
[78] Min Tae M Park,et al. Morphological Alterations in the Thalamus, Striatum, and Pallidum in Autism Spectrum Disorder , 2016, Neuropsychopharmacology.
[79] H. Mefford,et al. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy , 2016, Journal of Medical Genetics.
[80] A. Pagnamenta,et al. A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia , 2016, Clinical genetics.
[81] Soojin Lee,et al. Centromere Protein (CENP)-W Interacts with Heterogeneous Nuclear Ribonucleoprotein (hnRNP) U and May Contribute to Kinetochore-Microtubule Attachment in Mitotic Cells , 2016, PloS one.
[82] Anke M Hövels,et al. Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability , 2016, Genetics in Medicine.
[83] L. Petrucelli,et al. TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor. , 2016, Human molecular genetics.
[84] L. Xing,et al. hnRNP-Q1 represses nascent axon growth in cortical neurons by inhibiting Gap-43 mRNA translation , 2016, Molecular biology of the cell.
[85] I. Helbig,et al. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy , 2016, Genetics in Medicine.
[86] A. Borreca,et al. Opposite Dysregulation of Fragile-X Mental Retardation Protein and Heteronuclear Ribonucleoprotein C Protein Associates with Enhanced APP Translation in Alzheimer Disease , 2016, Molecular Neurobiology.
[87] D. Valle,et al. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.
[88] A. Chakravarti,et al. Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. , 2015, Human molecular genetics.
[89] S. Lees-Miller,et al. Phosphorylation of SAF-A/hnRNP-U Serine 59 by Polo-Like Kinase 1 Is Required for Mitosis , 2015, Molecular and Cellular Biology.
[90] Paul G. Ince,et al. Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy , 2015, Acta Neuropathologica.
[91] Kali T. Witherspoon,et al. Excess of rare, inherited truncating mutations in autism , 2015, Nature Genetics.
[92] Y. Kawasaki,et al. Heterogeneous nuclear ribonucleoprotein K upregulates the kinetochore complex component NUF2 and promotes the tumorigenicity of colon cancer cells. , 2015, Biochemical and biophysical research communications.
[93] Yujun Han,et al. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios , 2015, Genetics in Medicine.
[94] Boris Yamrom,et al. The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.
[95] Magalie S Leduc,et al. Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.
[96] Christopher S. Poultney,et al. Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.
[97] C. Simon,et al. Presynaptic Localization of Smn and hnRNP R in Axon Terminals of Embryonic and Postnatal Mouse Motoneurons , 2014, PloS one.
[98] Ilan Davis,et al. Drosophila Syncrip modulates the expression of mRNAs encoding key synaptic proteins required for morphology at the neuromuscular junction , 2014, RNA.
[99] Edouard Henrion,et al. De Novo Mutations in Moderate or Severe Intellectual Disability , 2014, PLoS genetics.
[100] M. Ares,et al. Context-dependent control of alternative splicing by RNA-binding proteins , 2014, Nature Reviews Genetics.
[101] Stephan J Sanders,et al. A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.
[102] Ahmed S. Moursy,et al. Characterization of the RNA recognition mode of hnRNP G extends its role in SMN2 splicing regulation , 2014, Nucleic acids research.
[103] D. Hannequin,et al. hnRNPA2B1 and hnRNPA1 mutations are rare in patients with “multisystem proteinopathy” and frontotemporal lobar degeneration phenotypes , 2014, Neurobiology of Aging.
[104] H. Choy,et al. hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7. , 2014, Biochimica et biophysica acta.
[105] Stephen J. Guter,et al. Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders , 2014, American journal of human genetics.
[106] Evan E. Eichler,et al. A Genotype-First Approach to Defining the Subtypes of a Complex Disease , 2014, Cell.
[107] E. Zackai,et al. Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence , 2013, American journal of medical genetics. Part A.
[108] Michael R. Johnson,et al. De novo mutations in the classic epileptic encephalopathies , 2013, Nature.
[109] J. Shendure,et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 , 2013, Nature Genetics.
[110] Xing-Ming Zhao,et al. Human Monogenic Disease Genes Have Frequently Functionally Redundant Paralogs , 2013, PLoS Comput. Biol..
[111] A. Yasui,et al. The Role of hnRPUL1 Involved in DNA Damage Response Is Related to PARP1 , 2013, PloS one.
[112] Michael Benatar,et al. Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS , 2013, Nature.
[113] C. Broeckhoven,et al. hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations , 2013, Acta Neuropathologica.
[114] De novo mutations in epileptic encephalopathies , 2013 .
[115] D. Horn,et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study , 2012, The Lancet.
[116] Gabor T. Marth,et al. Haplotype-based variant detection from short-read sequencing , 2012, 1207.3907.
[117] Hermona Soreq,et al. Cholinergic-associated loss of hnRNP-A/B in Alzheimer's disease impairs cortical splicing and cognitive function in mice , 2012, EMBO molecular medicine.
[118] B. Shia,et al. hnRNP Q Regulates Cdc42-Mediated Neuronal Morphogenesis , 2012, Molecular and Cellular Biology.
[119] E. Chen,et al. Hnrpab regulates neural development and neuron cell survival after glutamate stimulation. , 2012, RNA.
[120] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[121] G. Stewart,et al. Regulation of DNA-end resection by hnRNPU-like proteins promotes DNA double-strand break signaling and repair. , 2012, Molecular cell.
[122] Gene W. Yeo,et al. Integrative genome‐wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins , 2012, Cell reports.
[123] Jonathan E. Dickerson,et al. On the Origins of Mendelian Disease Genes in Man: The Impact of Gene Duplication , 2011, Molecular biology and evolution.
[124] H. Luhmann,et al. Heterogeneous Nuclear Ribonucleoprotein (hnRNP) F Is a Novel Component of Oligodendroglial RNA Transport Granules Contributing to Regulation of Myelin Basic Protein (MBP) Synthesis* , 2011, The Journal of Biological Chemistry.
[125] A. Aboussekhra,et al. p16INK4A Positively Regulates Cyclin D1 and E2F1 through Negative Control of AUF1 , 2011, PloS one.
[126] David G. Amaral,et al. Abnormal structure or function of the amygdala is a common component of neurodevelopmental disorders , 2011, Neuropsychologia.
[127] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[128] A. Ludolph,et al. Novel missense and truncating mutations in FUS/TLS in familial ALS , 2010, Neurology.
[129] R. Siebert,et al. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. , 2010, European journal of medical genetics.
[130] P. Worley,et al. hnRNP C promotes APP translation by competing with FMRP for APP mRNA recruitment to P bodies , 2010, Nature Structural &Molecular Biology.
[131] M. McNally,et al. A Glycine-Rich Domain of hnRNP H/F Promotes Nucleocytoplasmic Shuttling and Nuclear Import through an Interaction with Transportin 1 , 2010, Molecular and Cellular Biology.
[132] Xun Hu,et al. Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 , 2009, Science.
[133] R. Lu,et al. The RNA Binding Protein hnRNP Q Modulates the Utilization of Exon 7 in the Survival Motor Neuron 2 (SMN2) Gene , 2008, Molecular and Cellular Biology.
[134] A. Barnekow,et al. SYNCRIP, a component of dendritically localized mRNPs, binds to the translation regulator BC200 RNA , 2008, Journal of neurochemistry.
[135] J. Manley,et al. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. , 2007, Human molecular genetics.
[136] A. Gieryk,et al. Prenatal exposure to valproic acid disturbs the enkephalinergic system functioning, basal hedonic tone, and emotional responses in an animal model of autism , 2007, Psychopharmacology.
[137] M. Palkovits,et al. AUF1 Is Expressed in the Developing Brain, Binds to AT-rich Double-stranded DNA, and Regulates Enkephalin Gene Expression* , 2006, Journal of Biological Chemistry.
[138] Douglas L. Black,et al. hnRNP H Is a Component of a Splicing Enhancer Complex That Activates a c-src Alternative Exon in Neuronal Cells , 1999, Molecular and Cellular Biology.