ライフサイエンスコーパス: SHOX

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1 SHOX gene mutations have been shown to cause idiopathic

2 SHOX is a homeobox-containing gene, highly conserved amo

3 SHOX is, however, closely related to the SHOX2 homeobox

4 ted members, SHOX and SHOX2 in humans, but a SHOX ortholog does not exist in the mouse genome.

5 We further created an SHOX/Shox2 knock-in mouse line (replacement of Shox2 wit

6 We analysed SHOX and SHOX2 expression during human embryonic develop

7 igate possible functional redundancy between SHOX and SHOX2 in vitro and in vivo.

8 d second pharyngeal arches not only explains SHOX -related short stature phenotypes, but also for the

9 ribed short stature homeobox-containing gene SHOX segregating with the LWD phenotype in 5 families.

10 The short stature homeobox gene SHOX is associated with idiopathic short stature in huma

11 Mutations in the short stature homeobox gene SHOX lead to growth retardation associated with Turner,

12 Defects of the pseudoautosomal homeobox gene SHOX were previously shown to lead to short stature and

13 um over an interval of 43 kb around the gene SHOX.

14 the short stature homeobox-containing gene (SHOX) in the pseudoautosomal region of the sex chromosom

15 strate a functional redundancy between human SHOX and mouse Shox2 in the regulation of SAN formation

16 rmerly OG12) and the recently reported human SHOX gene.

17 We first showed that human SHOX and SHOX2 and mouse Shox2 possess similar transcrip

18 , we show that mouse Shox2, similar to human SHOX, can perform opposite roles on gene expression: eit

19 The gene responsible for LWD, SHOX, localizes to the short-arm pseudoautosomal region

20 ily consists of two closely related members, SHOX and SHOX2 in humans, but a SHOX ortholog does not e

21 ion leading to a premature stop in exon 4 of SHOX was identified in one LWD family.

22 ri-Weill syndrome, and haploinsufficiency of SHOX was implicated to cause the short stature phenotype

23 is significantly elevated in the introns of SHOX (K=5.7%), PPP2R3L (K=8.7%) and ASMT (K=6.5%) genes

24 ive searches, no direct murine orthologue of SHOX is evident.

25 We cloned the chicken orthologue of SHOX, studied its expression pattern and compared this w

26 This places SHOX near the short-arm telomeres of the sex chromosome

27 The SHOX (short stature homeobox) gene family consists of tw

28 The SHOX expression pattern in the limb and first and second

29 The SHOX/Shox2 dose appears to be critical for normal pacema

30 We report here that in contrast to the SHOX mutations in humans, Shox2 deficiency in mice leads

31 igh as .254, which places it in proximity to SHOX.

32 ysmorphic skeletal features in patients with SHOX nonsense mutations.

33 ock-in mouse line (replacement of Shox2 with SHOX, referred as Shox2(KI/KI)).

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