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Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide.

作者信息

Kohlhase Jürgen, Holmes Lewis B

机构信息

Institute for Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany.

出版信息

Birth Defects Res A Clin Mol Teratol. 2004 Aug;70(8):550-1. doi: 10.1002/bdra.20050.

DOI:10.1002/bdra.20050
PMID:15329836
Abstract
摘要

相似文献

1
Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide.先前推测畸形父女体内的SALL4基因突变是由沙利度胺诱变所致。
Birth Defects Res A Clin Mol Teratol. 2004 Aug;70(8):550-1. doi: 10.1002/bdra.20050.
2
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.奥基希罗综合征（杜安-桡骨射线综合征）、肢-肾-眼综合征及相关疾病中的SALL4突变。
Hum Mutat. 2005 Sep;26(3):176-83. doi: 10.1002/humu.20215.
3
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.SALL4基因中的新突变进一步证明了肢端-肾-眼综合征和冈田弘综合征是等位基因实体，并扩展了表型谱。
J Med Genet. 2004 Aug;41(8):e102. doi: 10.1136/jmg.2004.019505.
4
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.20号染色体上SALL4基因座的突变会导致一系列临床上重叠的表型，包括冲弘综合征、心手综合征、肢-肾-眼综合征，以及之前报道的代表沙利度胺胚胎病的患者。
J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473.
5
[Clinical and molecular genetic findings in isolated sporadic Duane syndrome].
Klin Monbl Augenheilkd. 2004 Oct;221(10):849-53. doi: 10.1055/s-2004-813662.
6
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population.印度南部人群中杜安眼球后缩综合征患者的SALL4基因分析。
Ophthalmic Genet. 2011 Sep;32(3):156-7. doi: 10.3109/13816810.2011.559652. Epub 2011 Mar 15.
7
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.ESCO2、SALL4 和 TBX5 基因在反应停致畸敏感性中的作用。
Sci Rep. 2019 Aug 6;9(1):11413. doi: 10.1038/s41598-019-47739-8.
8
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.20号染色体长臂13.13区至13.2区的多基因缺失，包括SALL4基因缺失，会导致大井弘综合征的表型扩展并伴有发育迟缓。
Hum Mutat. 2007 Aug;28(8):830. doi: 10.1002/humu.9502.
9
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.SALL4基因缺失是冈田宏综合征和肢端-肾-眼综合征的常见病因，并证实单倍剂量不足是其致病机制。
J Med Genet. 2004 Sep;41(9):e113. doi: 10.1136/jmg.2004.019901.
10
The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development.SALL4的小鼠同源物是大日向综合征的致病基因，对胚胎干细胞增殖至关重要，并在肛门直肠、心脏、大脑和肾脏发育中与Sall1协同作用。
Development. 2006 Aug;133(15):3005-13. doi: 10.1242/dev.02457. Epub 2006 Jun 21.

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Targeting neuroinflammation: 3-monothiopomalidomide a new drug candidate to mitigate traumatic brain injury and neurodegeneration.靶向神经炎症：3-单硫代泊马度胺——一种减轻创伤性脑损伤和神经退行性变的新型候选药物。
J Biomed Sci. 2025 Jun 16;32(1):57. doi: 10.1186/s12929-025-01150-w.
2
Thalidomide upper limb embryopathy - pathogenesis, past and present management and future considerations.沙利度胺上肢胚胎病——发病机制、过去和现在的治疗方法及未来的考虑。
J Hand Surg Eur Vol. 2023 Sep;48(8):699-709. doi: 10.1177/17531934231177425. Epub 2023 May 24.
3
Novel, thalidomide-like, non-cereblon binding drug tetrafluorobornylphthalimide mitigates inflammation and brain injury.
新型、类沙利度胺、非 cereblon 结合药物四氟硼酸邻苯二甲酰亚胺可减轻炎症和脑损伤。
J Biomed Sci. 2023 Mar 6;30(1):16. doi: 10.1186/s12929-023-00907-5.
4
Molecular mechanisms of thalidomide and its derivatives.沙利度胺及其衍生物的分子机制。
Proc Jpn Acad Ser B Phys Biol Sci. 2020;96(6):189-203. doi: 10.2183/pjab.96.016.
5
Molecular Mechanisms of the Teratogenic Effects of Thalidomide.沙利度胺致畸作用的分子机制
Pharmaceuticals (Basel). 2020 May 13;13(5):95. doi: 10.3390/ph13050095.
6
Evolution of Cereblon-Mediated Protein Degradation as a Therapeutic Modality.作为一种治疗方式的 Cereblon 介导的蛋白质降解的演变
ACS Med Chem Lett. 2019 Nov 12;10(12):1592-1602. doi: 10.1021/acsmedchemlett.9b00425. eCollection 2019 Dec 12.
7
SALL4, the missing link between stem cells, development and cancer.SALL4，干细胞、发育与癌症之间缺失的环节。
Gene. 2016 Jun 15;584(2):111-9. doi: 10.1016/j.gene.2016.02.019. Epub 2016 Feb 16.
8
Thalidomide-induced teratogenesis: history and mechanisms.沙利度胺诱导的致畸作用：历史与机制
Birth Defects Res C Embryo Today. 2015 Jun;105(2):140-56. doi: 10.1002/bdrc.21096. Epub 2015 Jun 4.
9
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.在中国一个患有杜安眼球后退综合征的家系中，与一种新的类SALL4基因突变相关的多样化临床表现。
Mol Vis. 2013 May 6;19:986-94. Print 2013.
10
[Okihiro syndrome : Duane's syndrome and radial malformations of the limbs].[奥基希罗综合征：杜安综合征与肢体桡骨畸形]
Ophthalmologe. 2008 Jun;105(6):588-91. doi: 10.1007/s00347-007-1633-7.