Yanick J Crow

Summary

Publications

  1. pmc Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
    Yanick J Crow
    Academic Unit of Medical Genetics, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St Mary s Hospital, University of Manchester, Oxford Road, Manchester M13 9WL, UK
    Hum Mol Genet 18:R130-6. 2009
  2. pmc SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cells
    Benjamin Descours
    Institut de Genetique Humaine, CNRS UPR1142, Laboratoires de Virologie Moléculaire, Montpellier, France
    Retrovirology 9:87. 2012
  3. doi request reprint Aicardi-Goutières syndrome
    Yanick J Crow
    Genetic Medicine, University of Manchester, St Mary s Hospital, Manchester, UK Electronic address
    Handb Clin Neurol 113:1629-35. 2013
  4. doi request reprint Type I interferonopathies: a novel set of inborn errors of immunity
    Yanick J Crow
    Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, United Kingdom
    Ann N Y Acad Sci 1238:91-8. 2011
  5. doi request reprint Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection
    Yanick J Crow
    Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, West Yorkshire, UK
    Dev Med Child Neurol 50:410-6. 2008
  6. ncbi request reprint Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
    Nat Genet 38:910-6. 2006
  7. ncbi request reprint Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds LS9 7TF, UK
    Nat Genet 38:917-20. 2006
  8. ncbi request reprint The story of DNase II: a stifled death-wish leads to self-harm
    Yanick J Crow
    Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, Manchester, UK
    Eur J Immunol 40:2376-8. 2010
  9. ncbi request reprint Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
    Gillian I Rice
    Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre MAHSC, Manchester, UK
    Lancet Neurol 12:1159-69. 2013
  10. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007

Detail Information

Publications37

  1. pmc Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
    Yanick J Crow
    Academic Unit of Medical Genetics, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St Mary s Hospital, University of Manchester, Oxford Road, Manchester M13 9WL, UK
    Hum Mol Genet 18:R130-6. 2009
    ..These studies provide important insights into the pathogenesis of SLE and beg urgent questions about the development and use of immunosuppressive therapies in AGS and related phenotypes...
  2. pmc SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cells
    Benjamin Descours
    Institut de Genetique Humaine, CNRS UPR1142, Laboratoires de Virologie Moléculaire, Montpellier, France
    Retrovirology 9:87. 2012
    ..Quiescent CD4+ T lymphocytes are highly refractory to HIV-1 infection due to a block at reverse transcription...
  3. doi request reprint Aicardi-Goutières syndrome
    Yanick J Crow
    Genetic Medicine, University of Manchester, St Mary s Hospital, Manchester, UK Electronic address
    Handb Clin Neurol 113:1629-35. 2013
    ..These studies beg urgent questions about the development and use of immunosuppressive therapies in AGS and related phenotypes...
  4. doi request reprint Type I interferonopathies: a novel set of inborn errors of immunity
    Yanick J Crow
    Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, United Kingdom
    Ann N Y Acad Sci 1238:91-8. 2011
    ....
  5. doi request reprint Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection
    Yanick J Crow
    Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, West Yorkshire, UK
    Dev Med Child Neurol 50:410-6. 2008
    ....
  6. ncbi request reprint Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
    Nat Genet 38:910-6. 2006
    ..Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation...
  7. ncbi request reprint Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds LS9 7TF, UK
    Nat Genet 38:917-20. 2006
    ..Our findings suggest an unanticipated role for TREX1 in processing or clearing anomalous DNA structures, failure of which results in the triggering of an abnormal innate immune response...
  8. ncbi request reprint The story of DNase II: a stifled death-wish leads to self-harm
    Yanick J Crow
    Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, Manchester, UK
    Eur J Immunol 40:2376-8. 2010
    ....
  9. ncbi request reprint Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
    Gillian I Rice
    Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre MAHSC, Manchester, UK
    Lancet Neurol 12:1159-69. 2013
    ..The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials...
  10. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...
  11. pmc Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
    Gillian I Rice
    1 Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK 2
    Nat Genet 46:503-9. 2014
    ..Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation. ..
  12. doi request reprint Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
    Gillian I Rice
    Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, UK
    Nat Genet 44:1243-8. 2012
    ..Considering recent insights derived from the study of other AGS-related proteins, we speculate that ADAR1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements...
  13. pmc Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome
    Gillian I Rice
    Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, United Kingdom
    Hum Mutat 34:1066-70. 2013
    ..Recognition of the disease causing status of these variants allows for diagnostic testing in relevant families. ..
  14. doi request reprint Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3
    Emma M Jenkinson
    Genetic Medicine, Manchester Academic Health Sciences Centre MAHSC, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    Am J Med Genet A 155:2910-5. 2011
    ..1 Mb on chromosome 3p21 common to the affected individuals. The critical region contains 227 genes and initial sequence analysis of a functional candidate gene has not identified causative mutations...
  15. ncbi request reprint Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes
    John H Livingston
    Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK
    Dev Med Child Neurol 56:612-26. 2014
    ..Nonetheless, there remain a number of presumed genetic disorders associated with ICC for which the underlying molecular cause has not yet been identified. ..
  16. doi request reprint Recognizable phenotypes associated with intracranial calcification
    John H Livingston
    Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK
    Dev Med Child Neurol 55:46-57. 2013
    ....
  17. pmc Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 80:811-5. 2007
    ..Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutieres syndrome...
  18. ncbi request reprint Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum
    Richard B Fisher
    Department of Clinical Genetics, St James s University Hospital, Leeds, UK
    Clin Dysmorphol 16:59-61. 2007
    ..However, none of these conditions, fully explains the collection of abnormalities found in this patient...
  19. pmc How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
    Siddharth Banka
    Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
    Eur J Hum Genet 20:381-8. 2012
    ..Moreover, phenotypic variability of KS suggests that MLL2 testing should be considered even in atypical patients...
  20. doi request reprint Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome
    Muthukumar Sakthivel
    Department of Genetic Medicine, Central Manchester Foundation Trust University Hospitals, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
    Am J Med Genet A 155:3087-9. 2011
    ..Such an association might be explained by the unmasking of a recessive allele as a consequence of hemizygosity, in the case of a 15q11 deletion, or homozygosity, in the case of maternal isodisomy...
  21. doi request reprint Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
    Beverley H Anderson
    Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, UK
    Nat Genet 44:338-42. 2012
    ..Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity...
  22. pmc Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency
    Siddharth Banka
    Genetic Medicine, Manchester Academic Health Sciences Centre MAHSC, St Mary s Hospital, University of Manchester, Manchester, UK
    Am J Hum Genet 88:216-25. 2011
    ..Moreover, this relationship provides insight into the role of folates in neurological conditions, including depression, Alzheimer disease, and Parkinson disease...
  23. pmc Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria
    Mary C O'Driscoll
    University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, UK
    Am J Hum Genet 87:354-64. 2010
    ..We provide evidence that the tight junction protein occludin (encoded by the OCLN gene) is involved in the pathogenesis of malformations of cortical development...
  24. pmc Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
    Siddharth Banka
    Genetic Medicine, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 19:18-22. 2011
    ..Delineation of the SCN4 phenotype may help in appropriate treatment and management and provide further insights into the pathogenesis of this multisystem disease...
  25. ncbi request reprint Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease
    Subrahmanian Dipti
    Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK
    Brain Dev 27:443-6. 2005
    ..Rather than representing two separate disorders, our findings suggest the possibility of a single disease entity which may usefully be considered a form of juvenile amyotrophic lateral sclerosis...
  26. ncbi request reprint Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus
    John H Livingston
    Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom
    Neuropediatrics 45:175-82. 2014
    ....
  27. doi request reprint Intracranial calcification in early infantile Krabbe disease: nothing new under the sun
    John H Livingston
    Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK
    Dev Med Child Neurol 54:376-9. 2012
    ..This report serves as a reminder that Krabbe disease should be included in the differential diagnosis of disorders causing intracranial calcification...
  28. doi request reprint Infantile neurological Degos disease
    Tong Hong Yeo
    Department of Paediatric Neurology, Royal Manchester Children s Hospital, Manchester M13 9WL, UK
    Eur J Paediatr Neurol 15:167-70. 2011
    ..CT scan revealed intracranial calcification, a feature described in two previous cases. Our report highlights the need to consider Degos disease in the differential diagnosis of childhood neurological disease with skin involvement...
  29. pmc Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
    Tracy A Briggs
    Manchester Academic Heath Science Centre, University of Manchester, Genetic Medicine, Manchester, UK
    Nat Genet 43:127-31. 2011
    ..Our findings reveal a previously unrecognized link between tartrate-resistant acid phosphatase activity and interferon metabolism and highlight the importance of type I interferon in the genesis of autoimmunity...
  30. ncbi request reprint Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies
    Sofia Douzgou
    Clinical Fellow in Clinical Genetics, Central Manchester University Hospitals Foundation Trust, Manchester Academic Health Sciences Centre, Genetic Medicine, St Mary s Hospital, Oxford Rd, Manchester, UK
    Arch Dis Child 97:812-7. 2012
    ..We studied the outcome of genetic assessment of 80 children referred to a regional genetics centre between 2004 and 2010 to identify the value of the genetic assessment in cases of suspected FASD...
  31. ncbi request reprint Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum
    Sharon J English
    Department of Neonatal Medicine, Leeds General Infirmary, Leeds, United Kingdom
    Am J Med Genet A 140:1854-8. 2006
    ..Our case highlights the possibility for neuronal migration abnormalities in Sedaghatian spondylometaphyseal dysplasia and suggests a novel association of the disorder with agenesis of the corpus callosum...
  32. ncbi request reprint Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome
    Yanick J Crow
    Molecular Medicine Unit, University of Leeds, St James s University Hospital, Leeds, United Kingdom
    Am J Med Genet A 129:303-7. 2004
    ..Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum...
  33. ncbi request reprint Aicardi-Goutières syndrome: description of a late onset case
    Stefano D'Arrigo
    Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico C Besta, Milan, Italy
    Dev Med Child Neurol 50:631-4. 2008
    ..Our paper also considers the possible value of immunomodulatory therapy in AGS...
  34. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
    ..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
  35. ncbi request reprint Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome
    Yanick J Crow
    Am J Med Genet A 137:233; author reply 234. 2005
  36. doi request reprint Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
    Anita Rauch
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Science 319:816-9. 2008
    ..Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ)...
  37. pmc Identification of microcephalin, a protein implicated in determining the size of the human brain
    Andrew P Jackson
    Molecular Medicine Unit, University of Leeds, United Kingdom
    Am J Hum Genet 71:136-42. 2002
    ..This gene, microcephalin, is expressed in the developing cerebral cortex of the fetal brain. Further study of this and related genes may provide important new insights into neocortical development and evolution...