Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

[1]  M. Kabra,et al.  Targeted Deep Resequencing Identifies MID2 Mutation for X‐Linked Intellectual Disability with Varied Disease Severity in a Large Kindred from India , 2014, Human mutation.

[2]  H. Ropers,et al.  Genetics of recessive cognitive disorders. , 2014, Trends in genetics : TIG.

[3]  S. Jaffrey,et al.  A Mental Retardation-linked Nonsense Mutation in Cereblon Is Rescued by Proteasome Inhibition* , 2013, The Journal of Biological Chemistry.

[4]  N. Schwedhelm-Domeyer,et al.  The Centrosomal E3 Ubiquitin Ligase FBXO31-SCF Regulates Neuronal Morphogenesis and Migration , 2013, PloS one.

[5]  Lisa G Shaffer,et al.  Genetic basis of intellectual disability. , 2013, Annual review of medicine.

[6]  Jacqueline K. White,et al.  Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. , 2012, American journal of human genetics.

[7]  M. W. Wooten,et al.  Isolation and culture of hippocampal neurons from prenatal mice. , 2012, Journal of visualized experiments : JoVE.

[8]  蟹江 共春.  Genetic reevaluation of the role of F-box proteins in cyclin D1 degradation , 2012 .

[9]  Akinobu Matsumoto,et al.  Genetic Reevaluation of the Role of F-Box Proteins in Cyclin D1 Degradation , 2011, Molecular and Cellular Biology.

[10]  Lucian Ilie,et al.  SHRiMP2: Sensitive yet Practical Short Read Mapping , 2011, Bioinform..

[11]  Shekhar Saxena,et al.  Prevalence of intellectual disability: a meta-analysis of population-based studies. , 2011, Research in developmental disabilities.

[12]  Yen-Ta Huang,et al.  Overexpression of BDNF and TrkB in human bladder cancer specimens. , 2010, Oncology reports.

[13]  D. Pinto,et al.  Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability , 2010, Journal of Medical Genetics.

[14]  S. Nelson,et al.  Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA , 2010, Genome Biology.

[15]  Wen-li Ma,et al.  FBXO31 is down-regulated and may function as a tumor suppressor in hepatocellular carcinoma. , 2010, Oncology reports.

[16]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[17]  John B. Vincent,et al.  Citation for Published Item: Use Policy the Genetic Basis of Non-syndromic Intellectual Disability: a Review , 2022 .

[18]  R. Deshaies,et al.  RING domain E3 ubiquitin ligases. , 2009, Annual review of biochemistry.

[19]  Peter Nürnberg,et al.  HomozygosityMapper—an interactive approach to homozygosity mapping , 2009, Nucleic Acids Res..

[20]  B. Kosofsky,et al.  Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation , 2008, neurogenetics.

[21]  Alexandre Reymond,et al.  Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase , 2008, European Journal of Human Genetics.

[22]  Peter Marynen,et al.  Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. , 2008, American journal of human genetics.

[23]  M. Ehlers,et al.  Emerging Roles for Ubiquitin and Protein Degradation in Neuronal Function , 2007, Pharmacological Reviews.

[24]  Andrew Menzies,et al.  Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. , 2007, American journal of human genetics.

[25]  A. Vianna-Morgante,et al.  UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. , 2006, American journal of human genetics.

[26]  Anne-Marie Cleton-Jansen,et al.  FBXO31 is the chromosome 16q24.3 senescence gene, a candidate breast tumor suppressor, and a component of an SCF complex. , 2005, Cancer research.

[27]  M. Rauh,et al.  Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) , 2005, Nature Genetics.

[28]  Cheng Li,et al.  dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data , 2004, Bioinform..

[29]  Jeanette C Papp,et al.  Detection and integration of genotyping errors in statistical genetics. , 2002, American journal of human genetics.

[30]  H. Leonard,et al.  The epidemiology of mental retardation: challenges and opportunities in the new millennium. , 2002, Mental retardation and developmental disabilities research reviews.

[31]  Thomas D. Schmittgen,et al.  Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. , 2001, Methods.

[32]  D E Weeks,et al.  Multipoint Estimation of Identity-by-Descent Probabilities at Arbitrary Positions among Marker Loci on General Pedigrees , 2001, Human Heredity.

[33]  M. Lalande,et al.  UBE3A/E6-AP mutations cause Angelman syndrome , 1996, Nature Genetics.

[34]  Ping Fang,et al.  De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome , 1997, Nature Genetics.

[35]  George J. Feldman,et al.  Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 , 1997, Nature Genetics.

[36]  K Lange,et al.  Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. , 1996, American journal of human genetics.

[37]  P. K. Smith,et al.  Measurement of protein using bicinchoninic acid. , 1985, Analytical biochemistry.