|
5q-syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our study confirms that early fusion of cranial sutures commonly observed in the dup(5q) syndrome is caused by triplication of the MSX2 gene and strongly supports the crucial role of this gene in the development of craniofacial structures.
|
18000908 |
2007 |
|
Abnormal behavior
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Above all, our results revealed that deletion of homeoproteins Msx1 and Msx2 could lead to behavioral disorders and suggested that Msx1 and Msx2 played a crucial role in regulating the development and function of the neocortex.
|
31221479 |
2019 |
|
Agenesis
|
0.010 |
Biomarker
|
disease |
BEFREE |
We postulate that a terminal distal trisomy of 5q35.2-5q35.3, which maps 1.1 Mb telomeric to the MSX2 gene is causative for both radial agenesis and complex heart defect in our proband.
|
23342975 |
2013 |
|
Amelogenesis Imperfecta
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Since mouse null mutant of homeobox transcription factor, Msx2, exhibits a phenotype resembling AI, the human homolog of this gene, MSX2, was sequenced.
|
16420275 |
2006 |
|
Amputated structure (morphologic abnormality)
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
We transduced mBMSCs with <i>Msx1</i> and <i>Msx2</i> genes and compared osteogenic activity and expression levels of several <i>Msx</i>-regulated genes (<i>Bmp4</i>, <i>Fgf8</i>, and keratin 14 (<i>K14</i>)) in BlC groups, including MSX1, MSX2, and MSX1/2 (in a 1:1 ratio) with those in mBMSCs and BCs <i>in vitro</i> and <i>in vivo</i> following injection into the amputation site.
|
28461333 |
2017 |
|
Anencephaly
|
0.010 |
Biomarker
|
disease |
BEFREE |
A single-strand conformation analysis (SSCA) mutation screen of the coding sequences of TFAP2alpha and MSX2 was performed for 204 nonsyndromic NTD patients including cases of anencephaly (n = 10), encephalocele (n = 8), and spina bifida aperta, SBA (n = 183).
|
11320527 |
2001 |
|
Ankylosing spondylitis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese.
|
18299954 |
2008 |
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The sensitivity, specificity, and diagnostic accuracy for PDAC of cytology and MSX2 expression in ductal strictures were: 47.4%, 100%, and 63.4%, and 73.7%, 84.0%, and 79.3%, respectively.
|
20961362 |
2011 |
|
Anorectal Malformations
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Immunohistochemical staining of ARM embryos revealed that MSX2 was mainly expressed in the epithelium of the hindgut and urorectal septum (URS) on GD14.
|
30268882 |
2018 |
|
Aplasia cutis congenita of scalp
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Aplasia of optic nerve
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Indeed, overexpression of the Msx2 gene in a mouse model resulted also in optic nerve aplasia and microphthalmia.
|
24666290 |
2015 |
|
ATRIAL SEPTAL DEFECT 1
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this study, we used Msx2 conditional knockout (CKO) mice as a model and found that Msx2 deficiency in surface ectoderm induced ASD.
|
30683901 |
2019 |
|
Atrial Septal Defects
|
0.010 |
Biomarker
|
group |
BEFREE |
In this study, we used Msx2 conditional knockout (CKO) mice as a model and found that Msx2 deficiency in surface ectoderm induced ASD.
|
30683901 |
2019 |
|
Autism Spectrum Disorders
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this study, we used Msx2 conditional knockout (CKO) mice as a model and found that Msx2 deficiency in surface ectoderm induced ASD.
|
30683901 |
2019 |
|
B-Cell Lymphomas
|
0.010 |
Biomarker
|
group |
BEFREE |
This study aimed to determine Msh homeobox 2 (MSX2) and B cell lymphoma-2 (BCL2) expression patterns during anorectal development in anorectal malformations (ARM) and normal rat embryos, with the goals of determining the role of MSX2 and BCL2 in ARM pathogenesis.
|
30268882 |
2018 |
|
Behavior Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Above all, our results revealed that deletion of homeoproteins Msx1 and Msx2 could lead to behavioral disorders and suggested that Msx1 and Msx2 played a crucial role in regulating the development and function of the neocortex.
|
31221479 |
2019 |
|
Bicoronal synostosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Brachyturricephaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Moreover, immunohistochemistry of human infiltrating breast carcinomas showed positive staining for Msx2 only in the infiltrating tumor cells while the non-infiltrating tumor cells were negative.
|
19170109 |
2009 |
|
Breast Carcinoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Examination of Msx2 mRNA expression in a breast cancer transcriptomic dataset demonstrated that increased levels of Msx2 were associated with good prognosis (P = 0.011).
|
20682066 |
2010 |
|
Breast Carcinoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
The aim of this study was to compare expression of Msx2 gene in breast cancer of different genotypes as well as in surrounding nonmalignant tissues.
|
15945508 |
2005 |
|
Calvarial skull defect
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis further showed that in four out of five families an MSX2 mutation was responsible for the skull defect.
|
10767351 |
2000 |
|
Carcinogenesis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Msx2 is a homeobox gene implicated in organ development, bone metabolism, and tumorigenesis.
|
18187185 |
2008 |
|
Carcinogenesis
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
Overexpression of Msx1 and Msx2 may also be involved in tumorigenesis.
|
15300013 |
2004 |
|
Carcinogenesis
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
Tumorigenesis led to about a twofold decrease in the relative amount of Msx2 mRNA except for ER+/PR+ immunophenotype, where no changes were observed.
|
15945508 |
2005 |