Okihiro-Syndrom

Ah, Haus; Kohlhase, Jürgen; Käsmann, B; Seitz, Berthold

doi:10.1007/s00347-007-1633-7

Cited by 3 publications

(2 citation statements)

References 19 publications

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“…In humans, mutations in SALL4 can cause Okihiro syndrome, that is characterized by limb deformities and loss of eye movement. 6,7 Additionally, ectopic expression of SALL4 has been demonstrated to play a crucial role in tumorigenesis and cancer progression. High SALL4 expression levels have been observed in numerous malignancies, including hepatocellular carcinoma, 8 colorectal cancer, 9 germ cell tumors, 10 leukemias, 11 breast cancer, 12 and lung cancer.…”

Section: Introductionmentioning

confidence: 99%

Effect of SALL4 on the Proliferation, Invasion and Apoptosis of Breast Cancer Cells

Yao

Mao

et al. 2020

Technol Cancer Res Treat

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Objective: We aimed to identify the expression of Sal-like 4 (SALL4) in breast cancer tissues and to explore the role of this gene in the carcinogenesis of breast cancer cells. Methods: A total of 62 paired breast cancer and noncancerous tissue samples were obtained from patients with breast cancer. SALL4 expression patterns and their association with clinicopathological characteristics were investigated by qRT-PCR, western blotting, and immunochemistry in breast cancer tissues. After the knockdown of SALL4 by short hairpin RNAs (shRNAs), the proliferative, invasive, and apoptotic abilities of MDA-MB-435 and MDA-MB-468 cells (breast cancer cell lines) were measured by colony formation and CCK-8 assays, wound healing and transwell assays, and flow cytometry, respectively. Results: SALL4 expression was higher in breast cancer tissues than that in the paired noncancerous tissues, and increased SALL4 expression in tumor tissues was closely related to tumor size and lymphatic metastasis. Furthermore, functional experiments revealed that SALL4 knockdown inhibited the cell proliferation, induced cell cycle arrest in G0/G1phase and apoptosis, and decreased the ability of migration and invasion in breast cancer cells. Additionally, our study first demonstrated that SALL4 played a critical role in modulating the tumorigenicity of breast cancer cells via the WNT/β-catenin signaling pathway. Conclusions: Our results suggest that the expression of SALL4 is upregulated in breast cancer, and this upregulation is involved in the regulation of cell growth, invasion, and apoptosis. Hence, SALL4 may be a promising target for diagnosis and therapy in patients with breast cancer.

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Section: Introductionmentioning

confidence: 99%

Effect of SALL4 on the Proliferation, Invasion and Apoptosis of Breast Cancer Cells

Yao

Mao

et al. 2020

Technol Cancer Res Treat

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“…SALL3 null mice exhibit plate deficiency, abnormalities in cranial nerves, and perinatal lethality [5]. In human, SALL4 is mutated in patients with Duane Radial Ray Syndrome (DRRS, OMIM#126800) (also known as Duane Anomaly with Radial Ray abnormalities and Deafness syndrome or Okihiro syndrome) and Acro-renal-ocular syndrome [6], [7]. DRRS is an autosomal dominant disorder with the combination of Duane anomaly, radial ray abnormalities, and deafness.…”

Section: Introductionmentioning

confidence: 99%

A Novel SALL4/OCT4 Transcriptional Feedback Network for Pluripotency of Embryonic Stem Cells

Yang¹,

et al. 2010

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BackgroundSALL4 is a member of the SALL gene family that encodes a group of putative developmental transcription factors. Murine Sall4 plays a critical role in maintaining embryonic stem cell (ES cell) pluripotency and self-renewal. We have shown that Sall4 activates Oct4 and is a master regulator in murine ES cells. Other SALL gene members, especially Sall1 and Sall3 are expressed in both murine and human ES cells, and deletions of these two genes in mice lead to perinatal death due to developmental defects. To date, little is known about the molecular mechanisms controlling the regulation of expressions of SALL4 or other SALL gene family members.Methodology/Principal FindingsThis report describes a novel SALL4/OCT4 regulator feedback loop in ES cells in balancing the proper expression dosage of SALL4 and OCT4 for the maintenance of ESC stem cell properties. While we have observed that a positive feedback relationship is present between SALL4 and OCT4, the strong self-repression of SALL4 seems to be the “break” for this loop. In addition, we have shown that SALL4 can repress the promoters of other SALL family members, such as SALL1 and SALL3, which competes with the activation of these two genes by OCT4.Conclusions/SignificanceOur findings, when taken together, indicate that SALL4 is a master regulator that controls its own expression and the expression of OCT4. SALL4 and OCT4 work antagonistically to balance the expressions of other SALL gene family members. This novel SALL4/OCT4 transcription regulation feedback loop should provide more insight into the mechanism of governing the “stemness” of ES cells.

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Role of SALL4 in hematopoiesis

Liao

2012

Current Opinion in Hematology

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Okihiro-Syndrom

Cited by 3 publications

References 19 publications

Effect of SALL4 on the Proliferation, Invasion and Apoptosis of Breast Cancer Cells

Effect of SALL4 on the Proliferation, Invasion and Apoptosis of Breast Cancer Cells

A Novel SALL4/OCT4 Transcriptional Feedback Network for Pluripotency of Embryonic Stem Cells

Role of SALL4 in hematopoiesis

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