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Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.
Gaboon NEA, Banaganapalli B, Nasser K, Razeeth M, Alsaedi MS, Rashidi OM, Abdelwehab LS, Alahmadi TS, Safdar OY, Shaik J, Choudhry HMZ, Al-Numan HH, Khan MI, Al-Aama JY, Elango R, Shaik NA. Gaboon NEA, et al. Saudi J Biol Sci. 2020 Jan;27(1):324-334. doi: 10.1016/j.sjbs.2019.10.001. Epub 2019 Oct 18. Saudi J Biol Sci. 2020. PMID: 31889854 Free PMC article.
Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease.
Bokhari HA, Shaik NA, Banaganapalli B, Nasser KK, Ageel HI, Al Shamrani AS, Rashidi OM, Al Ghubayshi OY, Shaik J, Ahmad A, Alrayes NM, Al-Aama JY, Elango R, Saadah OI. Bokhari HA, et al. Among authors: nasser kk. Saudi J Biol Sci. 2020 Jun;27(6):1494-1502. doi: 10.1016/j.sjbs.2020.04.011. Epub 2020 Apr 14. Saudi J Biol Sci. 2020. PMID: 32489286 Free PMC article.
21 results