The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism

Gibriel, Abdullah Ahmed; Tate, Rothwelle J.; Yu, Yongbin; Rawson-Lax, Emma; Hammer, H M; Tettey, J.N.A.; Pyne, Nigel J.; Converse, Carolyn A.

doi:10.1016/j.gene.2012.11.005

Cited by 11 publications

(5 citation statements)

References 13 publications

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“…Several genetic variants were linked to various heterogenous diseases as in HL (Ahmed et al, 2008 ; Chakchouk et al, 2015 ). Various genotyping assays such as RFLP, single stranded conformational polymorphism, DNA microarrays and/or ligase chain reaction have been implemented to screen for genetic variants (Al‐Achkar et al, 2011 ; Chakchouk et al, 2015 ; Gibriel, 2012 ; Gibriel & Adel, 2017 ; Gibriel et al, 2013 ). The LRTOMT gene is located on chromosome 11 and contains 10 exons comprising five different alternatively spliced transcripts translated into LRTOMT1 and LRTOMT2 proteins (Ahmed et al, 2008 ).…”

Section: Discussionmentioning

confidence: 99%

“…2.2.1 | DNA extraction and PCR amplification DNA was extracted from peripheral white blood cells using standard phenol-chloroform method. Quality and quantity of extracted DNA samples were determined by measuring the A260/A280 (Gibriel et al, 2013). The regions flanking the c.242G>A variant in LRTOMT (NG_021423.1 RefSeqGene hg19/GRCh37) were PCR amplified for all samples using PCR thermal cycler in a 30 µl reaction each using 20 ng DNA sample with 1 U TaqDNA polymerase (Biotools), 5 mM Taq Reaction Buffer and1 µM of each primer (Arg81Gln forward: 5′-TGGTGGTAACATTGCTGGTG-3′ and Arg81Gln reverse: 5′-GCAACAGATCCCAAATATTCC-3′).…”

Section: Methodsmentioning

confidence: 99%

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Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies

Mosrati

Fadhlaoui-Zid

Benammar-Elgaaïed

et al. 2021

Molec Gen & Gen Med

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies

Mosrati

Fadhlaoui-Zid

Benammar-Elgaaïed

et al. 2021

Molec Gen & Gen Med

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“…All isolated miRNA were quantified using NanoDrop 1000 (Nanodrop, Wilmington, Delaware, USA). 35 After the extraction of miRNA, cDNA synthesis was performed using TaqMan microRNA Reverse Transcription Kit (Applied Biosystems Corp., Carlsbad, CA, USA; catalog number: 4,366,596) by adding 7 µl of the master mix with 3 µl of the primer used and 5 µl of isolated miRNA and microRNA-specific stem-loop primers (part of the TaqMan microRNA Assay Kit; Applied Biosystems). The resulting double-stranded (ds) cDNA was a template for an in vitro transcription (IVT) reaction.…”

Section: Methodsmentioning

confidence: 99%

Detection of exosomal miR-18a and miR-222 levels in Egyptian patients with hepatic cirrhosis and hepatocellular carcinoma

Elghoroury

Abdelghaffar

Awadallah

et al. 2022

Int J Immunopathol Pharmacol

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Background Hepatocellular carcinoma (HCC) is known to be the second leading cause of cancer-related mortality worldwide. For improving the prognosis as well as reducing the rate of mortality, early diagnosis of HCC is a must. Aims This study was conducted to assess the ability of the serum expression of exosomal miR-18a and miR-222 to differentiate and diagnose patients with HCC, patients with liver cirrhosis, and healthy controls. Methods This study included 51 patients with liver cirrhosis, 51 patients with HCC on top of hepatitis C virus (HCV) infection, and 50 healthy controls. Results miR-18a and miR-222 were assessed using reverse transcription-polymerase chain reaction. MiR-18a and miR-222 levels were significantly higher in the liver cirrhosis and HCC groups than the control group ( p ˂ 0.001). However, no statistically significant difference was found between patients with HCC and liver cirrhosis ( p = 0.4 for miR-18a and p = 0.1 for miR-222). ROC curve analyses to evaluate the diagnostic performances of the two miRNAs as important noninvasive diagnostic markers revealed a best cutoff value of 2 for miR-18a to differentiate between liver cirrhosis, HCC, and healthy controls. And for mir-222, a cutoff value of 1.7 and 1.9 showed the highest specificity for discrimination between liver cirrhosis, HCC, and healthy controls, respectively. Moreover, logistic regression model revealed that miR-18a expression was independent predictive factor in HCC patients ( p = 0.004), while miR-222 expression was independent predictive factor in liver cirrhosis patients ( p < 0.001). Conclusion miR-18a and miR-222 were significantly discriminative markers between patients with liver cirrhosis and HCC and healthy individuals. Therefore, they have a prognostic rather than a diagnostic value. Moreover, miR-18a and miR-222 could be useful in identifying liver injuries, including fibrosis and cirrhosis.

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“…The liver and ileum were stored in RNA protection solutions at -20 °C. First, total RNA was extracted from both in vivo and vitro using the RNA extraction kit (Beyotime Biotech Inc., Shanghai, China), and the RNA concentration was determined using NanoDrop ( Gibriel et al, 2013 ; Gibriel et al, 2019 ). Next, we followed the instructions for the cDNA synthesis kit (PrimeScript™ RT Master Mix (Perfect Real Time)) for reverse transcription (Takara Biomedical Technology Co. Ltd., Beijing, Japan).…”

Section: Methodsmentioning

confidence: 99%

Jia-ga-song-tang protection against alcoholic liver and intestinal damage

Fang

Gan

et al. 2022

Front. Pharmacol.

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Gut-liver axis and cellular homeostasis play key roles in alcohol liver disease (ALD). Nuclear factor (erythroid-derived 2)-like 2 (Nrf2) is a stress-sensitive guarantor of cellular homeostasis. We investigated whether the beneficial effects and underlying mechanisms of Jia-ga-song Tang (JGST) against ALD were associated with gut-liver axis and cellular homeostasis. A predictive network depicting the relationship between Jia-Ga-Song-Tang (JGST) and alcoholic liver disease (ALD) was designed by Network pharmacology. Next, 5% v/v Lieber-DeCarli alcohol liquid diet was used to establish the ALD. JGST protected the liver damage, repaired the intestines to alleviate the Two-hit on the liver, and balanced the cellular homeostasis. It was manifested in repairing the liver and intestinal pathological structure, reducing serum ALT, AST, and liver TG, TC, MDA, CAT, and increasing liver GSH, and intestine GSH-Px. JGST mainly inhibited the liver mRNA levels of HO-1, NQO1, GCLC, FASN, and PPARα and activated the intestinal mRNA levels of HO-1 and NQO1, while inhibiting the liver protein levels of HO-1, NQO1. Furthermore, LPS and LBP in the plasma and the expression of inflammatory factors such as IL-1β, TNF-α, IL-6, TGFβ1, CD14, and Myd88 were reduced after treatment to prove that JGST protects the liver from Two-hit. Ethanol was used to intervene in HepG2 and IEC-6 to establish an ALD cell model and treated by Germacrone, ML385, and TBHQ. repaired the intestinal barrier, and inhibited Nrf2 in IEC-6, but protect the HepG2 by activating Nrf2 to balance cellular homeostasis. Our results reinforce that JGST provides an effective protective method for alcoholic liver disease (ALD) by regulating Gut-liver axis and cellular homeostasis.

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The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism

Cited by 11 publications

References 13 publications

Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies

Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies

Detection of exosomal miR-18a and miR-222 levels in Egyptian patients with hepatic cirrhosis and hepatocellular carcinoma

Jia-ga-song-tang protection against alcoholic liver and intestinal damage

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