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SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes.
Almontashiri NA, Chen HH, Mailloux RJ, Tatsuta T, Teng AC, Mahmoud AB, Ho T, Stewart NA, Rippstein P, Harper ME, Roberts R, Willenborg C, Erdmann J; CARDIoGRAM Consortium; Pastore A, McBride HM, Langer T, Stewart AF. Almontashiri NA, et al. Cell Rep. 2014 May 8;7(3):834-47. doi: 10.1016/j.celrep.2014.03.051. Epub 2014 Apr 24. Cell Rep. 2014. PMID: 24767997 Free article.
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, Attie-Bitach T, Miguet M, Delous M, Ernest S, Plaisancié J, Calvas P, Rozet JM, Khan AO, Hamdan FF, Jamieson RV, Alkuraya FS, Michaud JL, Chassaing N. Bouasker S, et al. J Med Genet. 2023 Mar;60(3):294-300. doi: 10.1136/jmedgenet-2022-108475. Epub 2022 Jul 5. J Med Genet. 2023. PMID: 35790350
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quélin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean SD, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora-Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V. Lavillaureix A, et al. Genet Med. 2024 Jul;26(7):101126. doi: 10.1016/j.gim.2024.101126. Epub 2024 Mar 24. Genet Med. 2024. PMID: 38529886 Free article.
IRF2BP2 Reduces Macrophage Inflammation and Susceptibility to Atherosclerosis.
Chen HH, Keyhanian K, Zhou X, Vilmundarson RO, Almontashiri NA, Cruz SA, Pandey NR, Lerma Yap N, Ho T, Stewart CA, Huang H, Hari A, Geoffrion M, McPherson R, Rayner KJ, Stewart AF. Chen HH, et al. Circ Res. 2015 Sep 25;117(8):671-83. doi: 10.1161/CIRCRESAHA.114.305777. Epub 2015 Jul 20. Circ Res. 2015. PMID: 26195219
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Khaled MA, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli… See abstract for full author list ➔ Monies D, et al. Am J Hum Genet. 2019 Oct 3;105(4):879. doi: 10.1016/j.ajhg.2019.09.019. Am J Hum Genet. 2019. PMID: 31585110 Free PMC article. No abstract available.
iSCAN: An RT-LAMP-coupled CRISPR-Cas12 module for rapid, sensitive detection of SARS-CoV-2.
Ali Z, Aman R, Mahas A, Rao GS, Tehseen M, Marsic T, Salunke R, Subudhi AK, Hala SM, Hamdan SM, Pain A, Alofi FS, Alsomali A, Hashem AM, Khogeer A, Almontashiri NAM, Abedalthagafi M, Hassan N, Mahfouz MM. Ali Z, et al. Among authors: almontashiri nam. Virus Res. 2020 Oct 15;288:198129. doi: 10.1016/j.virusres.2020.198129. Epub 2020 Aug 18. Virus Res. 2020. PMID: 32822689 Free PMC article.
SARS-CoV-2 S1 and N-based serological assays reveal rapid seroconversion and induction of specific antibody response in COVID-19 patients.
Algaissi A, Alfaleh MA, Hala S, Abujamel TS, Alamri SS, Almahboub SA, Alluhaybi KA, Hobani HI, Alsulaiman RM, AlHarbi RH, ElAssouli MA, Alhabbab RY, AlSaieedi AA, Abdulaal WH, Al-Somali AA, Alofi FS, Khogeer AA, Alkayyal AA, Mahmoud AB, Almontashiri NAM, Pain A, Hashem AM. Algaissi A, et al. Among authors: almontashiri nam. Sci Rep. 2020 Oct 6;10(1):16561. doi: 10.1038/s41598-020-73491-5. Sci Rep. 2020. PMID: 33024213 Free PMC article.
55 results