scholarly journals SALL4 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Sall4 Gene

The SALL4 gene in acute leukemias

2015 ◽  
Vol 40 (3) ◽  
pp. 121 ◽  
Author(s):  
HasnaaA Abo-Elwafa ◽  
ShereenP Aziz ◽  
MagedM Salah ◽  
OsamahB Sedek
Keyword(s):  
Acute Leukemias ◽  
Sall4 Gene

scholarly journals DNA demethylation induces SALL4 gene re-expression in subgroups of hepatocellular carcinoma associated with Hepatitis B or C virus infection

Oncogene ◽  
2016 ◽  
Vol 36 (17) ◽  
pp. 2435-2445 ◽  
Author(s):  
H Fan ◽  
Z Cui ◽  
H Zhang ◽  
S K Mani ◽  
A Diab ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Virus Infection ◽  
Hepatitis B ◽  
Dna Demethylation ◽  
Sall4 Gene

Expression pattern and prognostic implication of SALL4 gene in myeloid leukemias: a case-control study

2019 ◽  
Vol 79 (1-2) ◽  
pp. 65-70
Author(s):  
Hala M. Farawela ◽  
Hamdy M. Zawam ◽  
Hanan A. Al-Wakeel ◽  
Mona H. El-Nagdy ◽  
Fatma A. El-Refaey ◽  
...  
Keyword(s):  
Expression Pattern ◽  
Case Control Study ◽  
Case Control ◽  
Prognostic Implication ◽  
Myeloid Leukemias ◽  
Control Study ◽  
Sall4 Gene

Aberrant hypomethylation of SALL4 gene in patients with myelodysplastic syndrome

2013 ◽  
Vol 37 (1) ◽  
pp. 71-75 ◽  
Author(s):  
Jiang Lin ◽  
Jun Qian ◽  
Dong-ming Yao ◽  
Wei Qian ◽  
Jing Yang ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Sall4 Gene

Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt–Oram Syndrome

2018 ◽  
Vol 37 (4) ◽  
pp. 398-404 ◽  
Author(s):  
Bojian Li ◽  
Sun Chen ◽  
Kun Sun ◽  
Rang Xu ◽  
Yurong Wu
Keyword(s):  
Gene Mutation ◽  
Genetic Analyses ◽  
Sall4 Gene

scholarly journals Growth Hormone Deficiency: Extending the Phenotypic Spectrum of SALL4-Related Disorders

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A700-A701
Author(s):  
Aneta Kodytková ◽  
Shenali Anne Amaratunga ◽  
Daniela Zemková ◽  
Klára Maratová ◽  
Stanislava Koloušková ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Normal Pregnancy ◽  
Pituitary Hormones ◽  
Hormone Deficiency ◽  
First Case ◽  
Paternal Grandfather ◽  
Radial Hypoplasia ◽  
Sall4 Gene

Abstract Background: The SALL4 gene encodes sal-like protein 4, a transcription factor with eight zinc finger motifs that is essential for the development of the epiblast and primitive endoderm. In association with TBX5 (T-box), SALL4 is responsible for the establishment and morphogenesis of the thumb. Pathogenic SALL4 variants have been reported to cause Duane-radial ray syndrome (also known as Okihiro syndrome), acro-renal-ocular syndrome and Holt-Oram syndrome. Hereby, we report on a family with radial hypoplasia and kidney dystopia in members of 4 consecutive generations, and short stature due to growth hormone deficiency (GHD) in the proband. Clinical Case: The male proband was born from the 3rd normal pregnancy at 39th week of gestation. He has no biological siblings. He was born small for gestational age (birth weight 2550 g, length 47 cm - both < 2SD) and had bilateral asymmetrical radial ray malformation consisting of radial hypoplasia, ulnar flexure and bilateral aplasia of the thumb, and pelvic dystopia of his right kidney. He had no cardiac malformations, clubfoot, ocular coloboma or Duane anomaly. He was examined for progressive short stature at the age of 3.9 years, where his IGF-1 was 68 ug/l (-1.0 SD), and peak GH in two stimulation tests was 6.2 ug/l. Other pituitary hormones were normal. His mother’s and father’s heights are 152.3 cm (-2.4 SD), and 177.8 cm (-0.4 SD), respectively. His father has malformation of the forearm that is milder than that of the son. The paternal grandfather is affected as well, with a radial defect with missing opposition of the thumb and height 164 cm (-2.3 SD). The family reports that the phenotype of radial dysplasia was apparent in the paternal grandfather’s mother as well. Due to the suggestive monogenic dominant transmission of the developmental abnormality, we carried out whole exome sequencing that revealed a nonsense variant in the SALL4 gene c.1717C>T (p.Arg573Ter) in the proband, his father, and paternal grandfather. The proband was started with regular GH therapy at age 6.5 years and experienced catch-up growth as expected in GHD. By the age 11 years, his height stabilized at about the 25th percentile in accordance to the mid-parent height with a target height of 171.5 +/- 8.5 cm. Puberty started spontaneously at the age 12.5 years. Conclusion: This is the first case demonstrating a patient with a congenital upper limb defect based on a pathogenic variant of the SALL4 gene where an isolated growth hormone deficiency (GHD) was detected and has been successfully treated with growth hormone. Acknowledgements: Genetic testing was funded by AZV grant NV18-07-00283.

scholarly journals Research progress of SALL4 gene in human malignant tumor

2018 ◽  
Vol 5 (1) ◽  
pp. 32
Author(s):  
Jue Wang ◽  
Huijie Zhang
Keyword(s):  
Malignant Tumor ◽  
Research Progress ◽  
Sall4 Gene

Prognostic Significance of SALL4 Expression Levels in Paediatric Acute Myeloid Leukaemia (AML).

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 2243-2243
Author(s):  
Paola Ballerini ◽  
Pierre-Yves Boelle ◽  
Caroline Deswarte ◽  
Anne Auvrignon ◽  
Gabrielle Couchy ◽  
...  
Keyword(s):  
Stem Cells ◽  
Hematopoietic Stem Cells ◽  
Lymphoblastic Leukemia ◽  
Prognostic Significance ◽  
Leukemia Cell ◽  
Hematopoietic Stem ◽  
Normal Tissues ◽  
Pre Treatment ◽  
Pediatric Aml ◽  
Sall4 Gene

Abstract Pediatric AML still represent an unfavourable disease resulting from the heterogeneous clonal expansion of malignant transformed haematopoietic stem or progenitor cell. The leukemia cell population is continuously replenish by rare, functionally distinct “leukaemia stem cells” (LSC) endowed with the capacity to self renew as well with the ability to generate clonogenic leukemic progenitors The AML-LSCs have been well documented and seem to behave like quiescent or slowly dividing hematopoietic stem cells. Therefore, LSC are considered less sensitive to treatments, which rather target actively dividing cells, and responsible for relapse. Recently, Y. Ma et al. suggested a major role of SALL4 gene both in stemness activity and leukemia transformation of normal hematopoietic stem cells. We sought to evaluate the expression of SALL4 gene in a panel of 88 pediatric AML, 60 Acute Lymphoblastic Leukemia (T and B ALL) and a few hematopoietic normal tissues. SALL4 expression was determined by quantitative RT-PCR in pre-treatment bone marrow samples (BM) (median blasts: 80%) and in normal tissues. SALL4 expression was much higher in AML compared to ALL (p<0.0001) and normal tissue (p < 0.0001). Values varied greatly among AML samples (range: 0 to 144; median 0.3). AML samples were dichotomized at SALL4’s median expression into“low” (n=44) or “high“(n=44) expressers. High expression was correlated to cytogenetic risk, as defined by MRC classes (p= 0.0008) but not to FAB categories, WBC, MLL rearrangements or FLT3, N RAS and NPM1 genotypes. Low expression was significant associated to t(8;21) translocation (P=0.02). SALL expression progressively increased from MRC1 class (low risk) to MRC3 (high risk) (p=0.002). High SALL4 patients had a shorter OS (OS: 46.8%±8% vs 74%±7%, p= 0.035) and a shorter EFS (EFS: 40% ± 8% vs 58% ±8%; P= 0.2) compared to low SALL4 expressers, although the latter association was less strong. As the highest values of SALL4 correlated with intermediate (MRC2) and high (MRC3) cytogenetic risk, we looked at fitting a model based upon the 4 quartiles of SALL4 expression. The upper quartile (values > 16, n= 12) had the worst outcome compared to the three others. Once stratified on MRC groups, MRC2 patients in the upper SALL4 quartile had 3.2 times more risk of relapse (HR= 3.2, CI95%: 1.3–7.8, P=0.02) and 5.4 more risk to die (HR=5.4, CI95%: 1.8–7.6; P= 0.0005) than MRC2 patients in the three others quartiles. In conclusion, SALL4 expression level may define an important risk factor in AML, particularly among patients with cytogenetic intermediate risk.

Aberrant hypomethylation of SALL4 gene is associated with intermediate and poor karyotypes in acute myeloid leukemia

2013 ◽  
Vol 46 (4-5) ◽  
pp. 304-307 ◽  
Author(s):  
Ji-chun Ma ◽  
Jun Qian ◽  
Jiang Lin ◽  
Wei Qian ◽  
Jing Yang ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Sall4 Gene ◽  
Acute Myeloid

scholarly journals SALL4 Gene Expression in Acute Myeloid Leukemia

2019 ◽  
Vol 20 (10) ◽  
pp. 3121-3127
Author(s):  
Fatma Mahmoud Ibraheem ◽  
Rgia Badawy ◽  
Mahmoud Aly Ayoub ◽  
Naglaa Mostafa Hassan ◽  
Marwa Nabil Mostafa
Keyword(s):  
Gene Expression ◽  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Sall4 Gene ◽  
Acute Myeloid
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