Search Results - "Alajaji, Sulaiman"

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly by Macken, William L, Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A, Self, Jay, Douglas, Andrew G L, Kao, Alexander P, Guille, Matthew, Baralle, Diana

“…Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic…”
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Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation by Chou, Janet, Alazami, Anas M., Jaber, Faris, Hoyos-Bachiloglu, Rodrigo, Jones, Jennifer, Weeks, Sabrina, Alosaimi, Mohammed F., Bainter, Wayne, Cangemi, Brittney, Badran, Yousef R., Mohammed, Reem, Alroqi, Fayhan, Almutairi, Abduarahman, Al-Onazi, Noufa, AlAjaji, Sulaiman, Al-Saud, Bander, Arnaout, Rand, Elkins, Megan, Devana, Sridevi, Imperial, Juliet, Li, Betty, Drexhage, Linnea, Abdel Rahman, Anas M., Jacob, Minnie, Haddad, Hadi, Hanna-Wakim, Rima, Dbaibo, Ghassan, Massaad, Michel J., Dasouki, Majed, Mikhael, Raymond, Baz, Zeina, Geha, Raif S., Al-Mousa, Hamoud

“…The gene AK2 encodes the phosphotransferase adenylate kinase 2 (AK2). Human variants in AK2 cause reticular dysgenesis, a severe combined immunodeficiency with…”
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