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SHOX mutations.

作者信息

Hintz Raymond L

机构信息

Department of Pediatrics, Stanford University School of Medicine, CA 94305, USA.

出版信息

Rev Endocr Metab Disord. 2002 Dec;3(4):363-7. doi: 10.1023/a:1020909925921.

DOI:10.1023/a:1020909925921
PMID:12424438
Abstract
摘要

相似文献

1
SHOX mutations.短身材同源框基因(SHOX)突变
Rev Endocr Metab Disord. 2002 Dec;3(4):363-7. doi: 10.1023/a:1020909925921.
2
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.儿童马德隆畸形中含矮小同源框基因(SHOX)的突变患病率。
J Med Genet. 2002 Oct;39(10):758-63. doi: 10.1136/jmg.39.10.758.
3
A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX.
Am J Med Genet A. 2011 Apr;155A(4):935-7. doi: 10.1002/ajmg.a.33872. Epub 2011 Mar 17.
4
SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis.SHOX:含假常染色体同源框基因,与身材矮小和软骨发育不全相关。
Growth Horm IGF Res. 1999 Jun;9 Suppl B:53-7; discussion 57-8. doi: 10.1016/s1096-6374(99)80082-3.
5
A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX.SHOX下游的一个非致病性假常染色体区域1(PAR1)拷贝数变异
Am J Med Genet A. 2011 Apr;155A(4):938-9. doi: 10.1002/ajmg.a.33871. Epub 2011 Mar 15.
6
The SHOX region and its mutations.SHOX 区域及其突变。
J Endocrinol Invest. 2010 Jun;33(6 Suppl):11-4.
7
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.在特发性矮小症和莱里-韦利软骨发育不全症中鉴定出的SHOX同源结构域突变的DNA结合、二聚化及核转位改变。
Hum Mutat. 2005 Jul;26(1):44-52. doi: 10.1002/humu.20187.
8
SHOX: growth, Léri-Weill and Turner syndromes.SHOX基因:生长发育、Léri-Weill综合征和特纳综合征
Trends Endocrinol Metab. 2000 Aug;11(6):227-30. doi: 10.1016/s1043-2760(00)00262-9.
9
SHOX mutations detected by FISH and direct sequencing in patients with short stature.通过荧光原位杂交(FISH)和直接测序在身材矮小患者中检测到的SHOX基因突变。
J Med Genet. 2003 Feb;40(2):E11. doi: 10.1136/jmg.40.2.e11.
10
[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].[SHOX基因单倍剂量不足导致的身材矮小:从诊断到治疗]
Arq Bras Endocrinol Metabol. 2008 Jul;52(5):765-73. doi: 10.1590/s0004-27302008000500008.

引用本文的文献

1
The Amniotic Fluid Cell-Free Transcriptome Provides Novel Information about Fetal Development and Placental Cellular Dynamics.羊水无细胞转录组提供了关于胎儿发育和胎盘细胞动力学的新信息。
Int J Mol Sci. 2021 Mar 5;22(5):2612. doi: 10.3390/ijms22052612.
2
Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.羊水 RNA 基因表达谱分析为特纳综合征表型提供了见解。
Hum Genet. 2014 Sep;133(9):1075-82. doi: 10.1007/s00439-014-1448-y. Epub 2014 May 22.

本文引用的文献

1
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.同源盒基因SHOX(矮小同源盒基因)的缺失是导致身材矮小儿童生长发育迟缓的一个重要原因。
J Clin Endocrinol Metab. 2002 Mar;87(3):1402-6. doi: 10.1210/jcem.87.3.8328.
2
SHOX haploinsufficiency and overdosage: impact of gonadal function status.矮小同源盒基因半合子不足与剂量过量:性腺功能状态的影响
J Med Genet. 2001 Jan;38(1):1-6. doi: 10.1136/jmg.38.1.1.
3
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.
Hum Genet. 2000 Aug;107(2):145-9. doi: 10.1007/s004390000352.
4
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.矮小同源盒基因SHOX与特纳综合征的骨骼异常有关。
Hum Mol Genet. 2000 Mar 22;9(5):695-702. doi: 10.1093/hmg/9.5.695.
5
Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.SHOX缺陷所致身材矮小的识别及重组人生长激素的治疗效果
J Clin Endocrinol Metab. 2000 Jan;85(1):245-9. doi: 10.1210/jcem.85.1.6375.
6
Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.14例SHOX单倍剂量不足患者的骨骼特征和生长模式:对特纳综合征发展的影响
J Clin Endocrinol Metab. 1999 Dec;84(12):4613-21. doi: 10.1210/jcem.84.12.6289.
7
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.假常染色体基因SHOX的突变和缺失会导致Leri-Weill软骨发育不全症。
Nat Genet. 1998 May;19(1):70-3. doi: 10.1038/ng0198-70.
8
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).软骨发育不全(勒里-韦尔综合征)中的 SHOX 基因突变。
Nat Genet. 1998 May;19(1):67-9. doi: 10.1038/ng0198-67.
9
SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development.SHOT是一种与矮小同源框基因(SHOX)相关的同源框基因,与颅面、脑、心脏和肢体发育有关。
Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2406-11. doi: 10.1073/pnas.95.5.2406.
10
A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse.一种新的人类同源框基因OGI2X是最保守的同源框基因家族的成员,在小鼠心脏发育过程中表达。
Hum Mol Genet. 1998 Mar;7(3):415-22. doi: 10.1093/hmg/7.3.415.