Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy

Authors: Alsemari, Abdulaziz, Guzmán-Vega, Francisco J., Meyer, Brian F., Arold, Stefan T.

Source: In Pediatric Neurology February 2024 151:68-72

Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism

Authors: Albader, Najla, Zou, Minjing, BinEssa, Huda A, Abdi, Saba, Al-Enezi, Anwar F, Meyer, Brian F, Alzahrani, Ali S, Shi, Yufei

Source: Journal of clinical endocrinology & metabolism. 107(3):e1263-e1276

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100148307091.0x000001&indx=1&recIds=ETOCvdc_100148307091.0x000001

Novel VDR Mutations in Patients with Vitamin D–Dependent Rickets Type 2a: A Mild Disease Phenotype Caused by A Novel Canonical Splice-Site Mutation

Authors: Demir, Korcan ^*, Zou, Minjing ^*, Al-Rijjal, Roua A., BinEssa, Huda, Acar, Sezer, Durmaz, Erdem, Çatlı, Gönül, Al-Enezi, Anwar F., Alzahrani, Ali S., Meyer, Brian F., Shi, Yufei ^*

Source: In Endocrine Practice January 2020 26(1):72-81

Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets

Authors: BinEssa, Huda A., Zou, Minjing, Al-Enezi, Anwar F., Alomrani, Basma, Al-Faham, Manar S.A., Al-Rijjal, Roua A., Meyer, Brian F., Shi, Yufei

Source: In Bone August 2019 125:186-193

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders

Authors: Bohlega, Saeed A., Abou-Al-Shaar, Hussam, AlDakheel, Amaal, Alajlan, Huda, Bohlega, Balsam S., Meyer, Brian F., Monies, Dorota, Cupler, Edward J., Al-Saif, Amr M.

Source: In Parkinsonism and Related Disorders July 2019 64:145-149

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Authors: Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Chedrawi, Aziza, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, Jaafar, Amal, Albar, Ranad, Akilan, Asma, Tayeb, Hamsa, Tahir, Asma, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Abu Khaled, Musad, Alsaleem, Khalid, Almugbel, Maisoon, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Sulaiman, Raashida, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Nahrir, Shapar, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Alsaud, Bandar, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alsabban, Essam, Alshareef, Turki, Awartani, Khalid, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Aldekhail, Wajeeh, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Altalhi, Abdulhadi, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.

Source: In The American Journal of Human Genetics 6 June 2019 104(6):1182-1201

Autozygome and high throughput confirmation of disease genes candidacy

Authors: Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Khashab, Heba Y., Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota, Alkuraya, Fowzan S. ^*

Source: In Genetics in Medicine March 2019 21(3):736-742

Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets

Authors: Cebeci, Ayşe Nurcan, Zou, Minjing, BinEssa, Huda A, Alzahrani, Ali S, Al-Rijjal, Roua A, Al-Enezi, Anwar F, Al-Mohanna, Futwan A, Cavalier, Etienne, Meyer, Brian F, Shi, Yufei

Source: Journal of clinical endocrinology & metabolism. 105(6):1840-1850

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117991279.0x000001&indx=1&recIds=ETOCvdc_100117991279.0x000001

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

Authors: May-Wilson, Sebastian, Sud, Amit, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Fisher, David, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy P., Tomlinson, Ian P., Dunlop, Malcolm G., Houlston, Richard S.

Source: In European Journal of Cancer October 2017 84:228-238

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family

Authors: Abou Al-Shaar, Hussam, Qadi, Najeeb, Al-Hamed, Mohamed H., Meyer, Brian F., Bohlega, Saeed

Source: In Journal of the Neurological Sciences 15 August 2016 367:239-243

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

Authors: Al-Mousa, Hamoud, Abouelhoda, Mohamed, Monies, Dorota M., Al-Tassan, Nada, Al-Ghonaium, Abdulaziz, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Al-Muhsen, Saleh, Ades, Nazema, Elshorbagi, Sahar, Al Gazlan, Sulaiman, Sheikh, Farrukh, Dasouki, Majed, El-Baik, Lina, Elamin, Tanzeil, Jaber, Amal, Kheir, Omnia, El-Kalioby, Mohamed, Subhani, Shazia, Al Idrissi, Eman, Al-Zahrani, Mofareh, Alhelale, Maryam, Alnader, Noukha, Al-Otaibi, Afaf, Kattan, Rana, Al Abdelrahman, Khalid, Al Breacan, Muna M., Bin Humaid, Faisal S., Wakil, Salma Majid, Alzayer, Fadi, Al-Dusery, Haya, Faquih, Tariq, Al-Hissi, Safa, Meyer, Brian F., Hawwari, Abbas

Source: In The Journal of Allergy and Clinical Immunology June 2016 137(6):1780-1787

A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs

Authors: Wakil, Salma M., Ram, Ramesh, Muiya, Nzioka P., Mehta, Munish, Andres, Editha, Mazhar, Nejat, Baz, Batoul, Hagos, Samya, Alshahid, Maie, Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna

Source: In Atherosclerosis February 2016 245:62-70

IL-12 immunotherapy of BrafV600E-induced papillary thyroid cancer in a mouse model

Authors: Parhar, Ranjit S, Zou, Minjing, Al-Mohanna, Futwan A, Baitei, Essa Y, Assiri, Abdullah M, Meyer, Brian F, Shi, Yufei

Source: In Laboratory Investigation January 2016 96(1):89-97

KRASG12D-mediated oncogenic transformation of thyroid follicular cells requires long-term TSH stimulation and is regulated by SPRY1

Authors: Zou, Minjing, Baitei, Essa Y, Al-Rijjal, Roua A, Parhar, Ranjit S, Al-Mohanna, Futwan A, Kimura, Shioko, Pritchard, Catrin, BinEssa, Huda, Alanazi, Azizah A, Alzahrani, Ali S, Akhtar, Mohammed, Assiri, Abdullah M, Meyer, Brian F, Shi, Yufei

Source: In Laboratory Investigation November 2015 95(11):1269-1277

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Authors: Monies, Dorota M., Al-Hindi, Hindi N., Al-Muhaizea, Mohamed A., Jaroudi, Dyala J., Al-Younes, Banan, Naim, Ewa A., Wakil, Salma M., Meyer, Brian F., Bohlega, Saeed

Source: In Neuromuscular Disorders April 2014 24(4):353-359

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Authors: Balasubramanian, Ravikumar, Choi, Jin-Ho, Francescatto, Ludmila, Willer, Jason, Horton, Edward R., Asimacopoulos, Eleni P., Stankovic, Konstantina M., Plummer, Lacey, Buck, Cassandra L., Quinton, Richard, Nebesio, Todd D., Mericq, Veronica, Merino, Paulina M., Meyer, Brian F., Monies, Dorota, Gusella, James F., Tassan, Nada Al, Katsanis, Nicholas, Crowley, William F.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2014 Dec . 111(50), 17953-17958.

Access URL: https://www.jstor.org/stable/43278814

Data on common variants associated with coronary artery disease/myocardial infarction in ethnic Arabs

Authors: Wakil, Salma M., Ram, Ramesh, Muiya, Nzioka P., Mehta, Munish, Andres, Editha, Mazhar, Nejat, Baz, Batoul, Hagos, Samya, Alshahid, Maie, Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna

Source: Data in brief. 7:172-176

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141208560.0x000001&indx=1&recIds=ETOCvdc_100141208560.0x000001

Wild-type S100A3 and S100A13 restore calcium homeostasis and mitigate mitochondrial dysregulation in pulmonary fibrosis patient-derived cells.

Authors: Al-Mutairy, Eid A., Al Qattan, Somaya, Khalid, Mohammed, Al-Enazi, Azizah A., Al-Saif, Maher M., Imtiaz, Faiqa, Ramzan, Khushnooda, Raveendran, Vineesh, Alaiya, Ayodele, Meyer, Brian F., Atamas, Sergei P., Collison, Kate S., Khabar, Khalid S., Hasday, Jeffrey D., Al-Mohanna, Futwan

Source: Frontiers in Cell & Developmental Biology; 2023, p1-12, 12p

Subject Terms: CALCIUM, HOMEOSTASIS, MITOCHONDRIA, RECOMBINANT proteins, INFLAMMATORY mediators

Expanding Phenotypic and Allelic Heterogeneity of Tricho-Hepato-Enteric Syndrome

Authors: Monies, Dorota M., Rahbeeni, Zuhair, Abouelhoda, Mohamed, Naim, Ewa A., Al-Younes, Banan, Meyer, Brian F., Al-Mehaidib, Ali

Source: Journal of pediatric gastroenterology and nutrition. 60(3):352-356

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100037237226.0x000001&indx=1&recIds=ETOCvdc_100037237226.0x000001

β-catenin attenuation leads to up-regulation of activating NKG2D ligands and tumor regression in Braf^V600E-driven thyroid cancer cells.

Authors: Minjing Zou, Al-Yahya, Suhad, Al-Alwan, Monther, BinEssa, Huda A., Khabar, Khalid S. A., Almohanna, Falah, Assiri, Abdullah M., Altaweel, Abdulmohsen, Qattan, Amal, Meyer, Brian F., Alzahrani, Ali S., Yufei Shi

Source: Frontiers in Immunology; 2023, p1-10, 10p

Subject Terms: CANCER cells, LIGANDS (Biochemistry), CELL-mediated cytotoxicity, THYROID cancer, WNT signal transduction, TUMOR growth