|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have identified the short stature homeobox gene as the main cause of the skeletal differences in patients with Turner syndrome, affecting longitudinal bone growth.
|
31567543 |
2019 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SMRs were not elevated for children with history of benign neoplasia (1.44; 95% CI, 0.17 to 5.20), idiopathic GHD (0.11; 95% CI, 0.02 to 0.33), idiopathic short stature (0.20; 95% CI, 0.01 to 1.10), short stature associated with small for gestational age (SGA) birth (0.66; 95% CI, 0.08 to 2.37), Turner syndrome (0.51; 95% CI, 0.06 to 1.83), or short stature homeobox-containing (SHOX) gene deficiency (0.83; 95% CI, 0.02 to 4.65).
|
28575299 |
2017 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Terminal Xp deletion leads to SHOX haploinsufficiency, and when it exceeds Xp22.33 it causes a variant of Turner syndrome (TS) in which gonadal function is preserved and short stature constitutes the major clinical feature.
|
27459301 |
2016 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Abnormal body proportions were observed in almost all individuals with SHOX-D, 50% of females with TS and 16% of children considered ISS.
|
24296787 |
2013 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The similar bone geometry changes of the radius in TS and SHOX-D patients support the hypothesis that loss of 1 copy of SHOX is responsible for the radial bone phenotype associated with TS.
|
23666967 |
2013 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The precise genetic etiology of TS has not been elucidated, but it does appear that deletion of the short arm of the X chromosome is sufficient to result in the TS phenotype, thereby implicating haploinsufficiency of multiple genes, including SHOX.
|
23020909 |
2012 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
As the inheritance of only one copy of the SHOX gene does not explain most of TS anomalies, more studies are needed to explain them.
|
21925981 |
2011 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygote SHOX mutations (80% deletions) were detected in 2-15% of individuals with formerly idiopathic short stature, in 50-90% of individuals with Leri-Weill dyschondrosteosis, and in almost 100% of girls with Turner syndrome.
|
21325865 |
2011 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of SHOX have been implicated in patients with Madelung's deformity, Leri-Weill dyschondrosteosis (77%), Turner's syndrome (66%), and idiopathic short stature (3%), and homozygous mutations of SHOX gene have been identified in patients with Langer's mesomelic dysplasia (100%).
|
19724992 |
2009 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our case presented with severe short stature and skeletal deformities with Turner syndrome (TS) and a SHOX gene abnormality due to a downstream allele deletion in her normal X chromosome.
|
19850687 |
2009 |
|
Turner Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome.
|
19016538 |
2009 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It is known that haploinsufficiency for the SHOX gene (short-stature homeobox gene on the X chromosome) is responsible for short stature in Turner syndrome and Leri-Weill dyschondrogenesis, and it has been reported that it is responsible for upwards of 1 in 50 cases of idiopathic short stature.
|
17028440 |
2007 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deficiencies or mutations in the human pseudoautosomal SHOX gene are associated with a series of short-stature conditions, including Turner syndrome, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia.
|
16537395 |
2006 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome.
|
16807223 |
2006 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The short stature homeobox gene SHOX is associated with idiopathic short stature in humans, as seen in Turner syndrome and Leri-Weill dyschondrosteosis, while little is known about its close relative SHOX2.
|
16141225 |
2005 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One of these genes, SHOX, is believed to play a major role in growth, since defects in this homeobox-containing gene on the sex chromosomes lead to syndromal short stature (Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and Turner syndrome) as well as to idiopathic short stature.
|
15931595 |
2005 |
|
Turner Syndrome
|
0.100 |
AlteredExpression
|
disease |
LHGDN |
Cardiovascular risk factors in Turner syndrome.
|
15529627 |
2004 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, haploinsufficiency of SHOX has also been implicated in Turner syndrome.
|
15173321 |
2004 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several genetic loci have been implicated in TS including the short stature homeobox gene.
|
15097963 |
2004 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We here report on the combined transcriptional and translational regulatory mechanisms controlling the expression of the Léri-Weill and Turner syndrome gene SHOX.
|
12960152 |
2003 |
|
Turner Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Together with the demonstrable escape of SHOX from X-inactivation, this suggested SHOX to be a strong candidate gene for the short stature component of TS, and as SHOX haploinsufficiency appears to be the molecular basis of a mesomelic short statured skeletal dysplasia (Leri-Weill syndrome), this suggested that SHOX protein expression levels may confer a dosage effect on human stature.
|
12035792 |
2002 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The human SHOX database has recently been established to provide clinicians and scientists access to a central source of information about all known SHOX mutations associated with short stature phenotypes such as idiopathic short stature, Lèri-Weill dyschondrosteosis, Langer syndrome, and Turner syndrome.
|
12402330 |
2002 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations of a human homeobox gene, SHOX (short stature homeobox), have recently been shown to be associated with the short stature phenotype in patients with Turner syndrome and most patients with Léri-Weill dyschondrosteosis.
|
11889216 |
2002 |
|
Turner Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
SHOX haplo-insufficiency is considered the molecular basis of short stature in patients with Turner's syndrome, and gives rise to the short stature with mesomelic dysplasia and Madelung deformity of patients with Leri-Weill syndrome.
|
11874178 |
2002 |
|
Turner Syndrome
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
SHOX haplo-insufficiency is considered the molecular basis of short stature in patients with Turner's syndrome, and gives rise to the short stature with mesomelic dysplasia and Madelung deformity of patients with Leri-Weill syndrome.
|
11874178 |
2002 |