Variant: rs147334255

present in Gene: MN1 present in Chromosome: 22 Position on Chromosome: 27750995 Alleles of this Variant: G/A

rs147334255 in MN1 gene and Dysmorphic features PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 11559848 2001 The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

PMID 11094079 2000 The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity.

PMID 25549701 2014 Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes.

PMID 15890672 2005 The 1,25(OH)2D3-regulated transcription factor MN1 stimulates vitamin D receptor-mediated transcription and inhibits osteoblastic cell proliferation.

PMID 12569362 2003 The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 22436304 2012 Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

PMID 15870292 2005 Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.

PMID 7731706 1995 Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.

PMID 7731705 1995 Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.

PMID 18948418 2008 The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.

PMID 19386590 2009 Meningioma 1 is required for appropriate osteoblast proliferation, motility, differentiation, and function.

PMID 19919682 2009 BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources.

rs147334255 in MN1 gene and Multiple congenital anomalies PMID 15890672 2005 The 1,25(OH)2D3-regulated transcription factor MN1 stimulates vitamin D receptor-mediated transcription and inhibits osteoblastic cell proliferation.

PMID 15870292 2005 Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.

PMID 11559848 2001 The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

PMID 7731705 1995 Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.

PMID 11094079 2000 The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity.

PMID 19386590 2009 Meningioma 1 is required for appropriate osteoblast proliferation, motility, differentiation, and function.

PMID 22436304 2012 Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

PMID 18948418 2008 The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 19919682 2009 BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources.

PMID 25549701 2014 Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes.

PMID 7731706 1995 Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.

PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 12569362 2003 The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription.

rs147334255 in MN1 gene and Muscle hypotonia PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 25549701 2014 Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes.

PMID 11094079 2000 The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity.

PMID 11559848 2001 The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

PMID 15890672 2005 The 1,25(OH)2D3-regulated transcription factor MN1 stimulates vitamin D receptor-mediated transcription and inhibits osteoblastic cell proliferation.

PMID 7731706 1995 Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.

PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 22436304 2012 Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

PMID 18948418 2008 The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.

PMID 15870292 2005 Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.

PMID 19919682 2009 BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources.

PMID 12569362 2003 The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription.

PMID 7731705 1995 Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.

PMID 19386590 2009 Meningioma 1 is required for appropriate osteoblast proliferation, motility, differentiation, and function.