Variant: rs1553153365 

    present in Gene: HNRNPR
    present in Chromosome: 1
    Position on Chromosome: 23310702
    Alleles of this Variant: G/A

rs1553153365 in HNRNPR gene and Multiple congenital anomalies PMID 20584894 2010 Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles.

PMID 20795951 2010 Functional diversity of the hnRNPs: past, present and perspectives.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 25338097 2014 Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons.

PMID 23734093 2013 RNA-binding proteins and translational regulation in axons and growth cones.

PMID 9421497 1998 Molecular definition of heterogeneous nuclear ribonucleoprotein R (hnRNP R) using autoimmune antibody: immunological relationship with hnRNP P.

PMID 23756437 2014 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

PMID 17603806 2007 A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.

PMID 16757948 2006 Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 22498899 2012 Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair.

PMID 11773003 2002 Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

PMID 15822126 2005 Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

PMID 20167579 2010 The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons.

PMID 15858414 2005 Cloning and expression of a novel isoform of heterogeneous nuclear ribonucleoprotein-R.

PMID 19015982 2009 The expression pattern of heterogeneous nuclear ribonucleoprotein R in rat retina.

PMID 14623865 2003 Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons.

rs1553153365 in HNRNPR gene and Muscle hypotonia PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 20167579 2010 The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons.

PMID 16757948 2006 Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.

PMID 23756437 2014 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

PMID 9421497 1998 Molecular definition of heterogeneous nuclear ribonucleoprotein R (hnRNP R) using autoimmune antibody: immunological relationship with hnRNP P.

PMID 22498899 2012 Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair.

PMID 23734093 2013 RNA-binding proteins and translational regulation in axons and growth cones.

PMID 20795951 2010 Functional diversity of the hnRNPs: past, present and perspectives.

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 15822126 2005 Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

PMID 15858414 2005 Cloning and expression of a novel isoform of heterogeneous nuclear ribonucleoprotein-R.

PMID 20584894 2010 Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles.

PMID 14623865 2003 Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons.

PMID 11773003 2002 Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

PMID 25338097 2014 Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons.

PMID 19015982 2009 The expression pattern of heterogeneous nuclear ribonucleoprotein R in rat retina.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 17603806 2007 A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.