Variant: rs1555899177

present in Gene: SON present in Chromosome: 21 Position on Chromosome: 33554005 Alleles of this Variant: ACTC/-

rs1555899177 in SON gene and Dysmorphic features PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

rs1555899177 in SON gene and Movement Disorders PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.

rs1555899177 in SON gene and Multiple congenital anomalies PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

rs1555899177 in SON gene and Muscle hypotonia PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.