Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis.

Autor: Jan RM; Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Al-Numan HH; Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Al-Twaty NH; Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia., Alrayes N; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia., Alsufyani HA; Department of Medical Physiology, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia., Alaifan MA; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Alhussaini BH; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Shaik NA; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Awan Z; Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Qari Y; Department of Internal Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Saadah OI; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Inflammatory Bowel Disease Research Group, King Abdulaziz University, Jeddah, Saudi Arabia., Banaganapalli B; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Mosli MH; Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Inflammatory Bowel Disease Research Group, King Abdulaziz University, Jeddah, Saudi Arabia., Elango R; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Publikováno v: Frontiers in medicine [Front Med (Lausanne)] 2023 May 05; Vol. 10, pp. 1164305. Date of Electronic Publication: 2023 May 05 (Print Publication: 2023).

Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.

Autor: Gaboon NEA; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Medical Genetics Centre, Faculty of Medicine, Ain-Shams University, Cairo, Egypt., Banaganapalli B; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Nasser K; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia., Razeeth M; Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia., Alsaedi MS; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Rashidi OM; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Abdelwehab LS; Faculty of Medicine, Ain Shams University, Cairo, Egypt., Alahmadi TS; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Safdar OY; Pediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Saudi Arabia., Shaik J; Genome Research Chair, College of Science, King Saud University, Saudi Arabia., Choudhry HMZ; Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia., Al-Numan HH; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia., Khan MI; Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia., Al-Aama JY; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Elango R; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia., Shaik NA; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.

Publikováno v: Saudi journal of biological sciences [Saudi J Biol Sci] 2020 Jan; Vol. 27 (1), pp. 324-334. Date of Electronic Publication: 2019 Oct 18.