Search Results - "Almontashiri, Naif"

Commentary on Multiple Copy Number Variants Detected by Noninvasive Prenatal Screening by Almontashiri, Naif A M

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Commentary on Mosaic Copy Number Variation in a Patient with Cerebral and Pulmonary Arteriovenous Malformations and Recurrent Epistaxis by Almontashiri, Naif A M

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iSCAN: An RT-LAMP-coupled CRISPR-Cas12 module for rapid, sensitive detection of SARS-CoV-2 by Ali, Zahir, Aman, Rashid, Mahas, Ahmed, Rao, Gundra Sivakrishna, Tehseen, Muhammad, Marsic, Tin, Salunke, Rahul, Subudhi, Amit K., Hala, Sharif M., Hamdan, Samir M., Pain, Arnab, Alofi, Fadwa S., Alsomali, Afrah, Hashem, Anwar M., Khogeer, Asim, Almontashiri, Naif A.M., Abedalthagafi, Malak, Hassan, Norhan, Mahfouz, Magdy M.

“…•RT-LAMP coupled with CRISPR-Cas12 provides a sensitive and specific virus detection platform.•iSCAN sensitivity and specificity are comparable with…”
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Commentary on A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice by Almontashiri, Naif A M

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Plasma PCSK9 levels are elevated with acute myocardial infarction in two independent retrospective angiographic studies by Almontashiri, Naif A M, Vilmundarson, Ragnar O, Ghasemzadeh, Nima, Dandona, Sonny, Roberts, Robert, Quyyumi, Arshed A, Chen, Hsiao-Huei, Stewart, Alexandre F R

“…Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a circulating protein that promotes degradation of the low density lipoprotein (LDL) receptor…”
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New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin by Alhebbi, Hamoud, Peer-Zada, Abdul Ali, Al-Hussaini, Abdulrahman A, Algubaisi, Sara, Albassami, Awad, AlMasri, Nasser, Alrusayni, Yasir, Alruzug, Ibrahim M, Alharby, Essa, Samman, Manar A, Ayoub, Syed Zubair, Maddirevula, Sateesh, Peake, Roy W A, Alkuraya, Fowzan S, Wali, Sami, Almontashiri, Naif A M

“…Biallelic variants in the USP53 gene have recently been reported to segregate with normal gamma glutamyltransferase (GGT) cholestasis. Using whole-exome…”
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Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study by Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.

“…Global untargeted metabolomics (GUM) has entered clinical diagnostics for genetic disorders. We compared the clinical utility of GUM with traditional targeted…”
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A Child with Progressive Hypertrophic Cardiomyopathy and Lactic Acidosis by AlFaris, Haya S, Rahbeeni, Zuhair A, Peake, Roy W A, Almontashiri, Naif A M

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Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn by Almannai, Mohammed, Aldehaimi, Abdulwahed, Peake, Roy W A, Almontashiri, Naif A M

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IRF2BP2 Reduces Macrophage Inflammation and Susceptibility to Atherosclerosis by Chen, Hsiao-Huei, Keyhanian, Kianoosh, Zhou, Xun, Vilmundarson, Ragnar O, Almontashiri, Naif A.M, Cruz, Shelly A, Pandey, Nihar R, Lerma Yap, Nida, Ho, Tiffany, Stewart, Chloe A, Huang, Hua, Hari, Aswin, Geoffrion, Michele, McPherson, Ruth, Rayner, Katey J, Stewart, Alexandre F.R

“…RATIONALE:Inflammation impairs macrophage cholesterol clearance from vascular tissues and promotes atherosclerosis. Inflammatory macrophages suppress…”
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Impact of the SARS-CoV-2 nucleocapsid 203K/204R mutations on the inflammatory immune response in COVID-19 severity by Shuaib, Muhammad, Adroub, Sabir, Mourier, Tobias, Mfarrej, Sara, Zhang, Huoming, Esau, Luke, Alsomali, Afrah, Alofi, Fadwa S, Ahmad, Adeel Nazir, Shamsan, Abbas, Khogeer, Asim, Hashem, Anwar M, Almontashiri, Naif A M, Hala, Sharif, Pain, Arnab

“…The excessive inflammatory responses provoked by SARS-CoV-2 infection are critical factors affecting the severity and mortality of COVID-19. Previous work…”
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Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease by Bilal Shamsi, Monis, Saleh, Mohamed, Almuntashri, Makki, Alharby, Essa, Samman, Manar, Peake, Roy W A, Al-Fadhli, Fatima M, Alasmari, Ali, Faqeih, Eissa A, Almontashiri, Naif A M

“…Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been…”
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A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families by Olinger, Eric, Alawi, Intisar Al, Al Riyami, Mohammed S., Salmi, Isa Al, Molinari, Elisa, Faqeih, Eissa Ali, Al‐Hamed, Mohamed H., Barroso‐Gil, Miguel, Powell, Laura, Al‐Hussaini, Abdulrahman A., Rahim, Khawla A., Almontashiri, Naif A. M., Miles, Colin, Shril, Shirlee, Hildebrandt, Friedhelm, Consortium, Genomics England Research, Wilson, Ian J., Sayer, John A.

“…Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved…”
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Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype by Alayed, Alaa M, Faqeih, Eissa Ali, Aldehaimi, Abdulwahed, Peake, Roy W A, Almontashiri, and Naif A M

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ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder by Almontashiri, Naif A M, Alharby, Essa, Saleh, Mohammed, Abu-Farha, Mohamed, Alasmari, Ali, Gebbia, Marinella, Hiesl, Charlotte, Peake, Roy W A, Amr, Sami Samir, Boles, Eckhard, Roth, Frederick P, Abubaker, Jehad

“…Malate is an important dicarboxylic acid produced from fumarate in the tricarboxylic acid cycle. Deficiencies of fumarate hydrolase (FH) and malate…”
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SARS-CoV-2 S1 and N-based serological assays reveal rapid seroconversion and induction of specific antibody response in COVID-19 patients by Algaissi, Abdullah, Alfaleh, Mohamed A., Hala, Sharif, Abujamel, Turki S., Alamri, Sawsan S., Almahboub, Sarah A., Alluhaybi, Khalid A., Hobani, Haya I., Alsulaiman, Reem M., AlHarbi, Rahaf H., ElAssouli, M.-Z.aki, Alhabbab, Rowa Y., AlSaieedi, Ahdab A., Abdulaal, Wesam H., Al-Somali, Afrah A., Alofi, Fadwa S., Khogeer, Asim A., Alkayyal, Almohanad A., Mahmoud, Ahmad Bakur, Almontashiri, Naif A. M., Pain, Arnab, Hashem, Anwar M.

“…As the Coronavirus Disease 2019 (COVID-19), which is caused by the novel SARS-CoV-2, continues to spread rapidly around the world, there is a need for well…”
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Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish by Derrick, Christopher J, Szenker-Ravi, Emmanuelle, Santos-Ledo, Adrian, Alqahtani, Ahlam, Yusof, Amirah, Eley, Lorraine, Coleman, Alistair H L, Tohari, Sumanty, Ng, Alvin Yu-Jin, Venkatesh, Byrappa, Alharby, Essa, Mansard, Luke, Bonnet-Dupeyron, Marie-Noelle, Roux, Anne-Francoise, Vaché, Christel, Roume, Joëlle, Bouvagnet, Patrice, Almontashiri, Naif A M, Henderson, Deborah J, Reversade, Bruno, Chaudhry, Bill

“…Abstract Developmental studies have shown that the evolutionarily conserved Wnt Planar Cell Polarity (PCP) pathway is essential for the development of a…”
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Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients by Almontashiri, Naif A M, Alswaid, Abdulrahman, Oza, Andrea, Al-Mazrou, Khalid A, Elrehim, Omnia, Tayoun, Ahmad Abou, Rehm, Heidi L, Amr, Sami S

“…Purpose Hearing loss is more prevalent in the Saudi Arabian population than in other populations; however, the full range of genetic etiologies in this…”
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Interferon-γ Activates Expression of p15 and p16 Regardless of 9p21.3 Coronary Artery Disease Risk Genotype by Almontashiri, Naif A.M., MSc, Fan, Meng, PhD, Cheng, Brian L.M., BSc, Chen, Hsiao-Huei, PhD, Roberts, Robert, MD, Stewart, Alexandre F.R., PhD

“…Objectives Because post-transcriptional mechanisms modulate levels of p16 (encoded by CDKN2A ) and p15 (encoded by CDKN2B ), we tested whether interferon-γ…”
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9p21.3 Coronary Artery Disease Risk Variants Disrupt TEAD Transcription Factor–Dependent Transforming Growth Factor β Regulation of p16 Expression in Human Aortic Smooth Muscle Cells by Almontashiri, Naif A M, Antoine, Darlène, Zhou, Xun, Vilmundarson, Ragnar O, Zhang, Sean X, Hao, Kennedy N, Chen, Hsiao-Huei, Stewart, Alexandre F R

“…BACKGROUND—The mechanism whereby the 9p21.3 locus confers risk for coronary artery disease remains incompletely understood. Risk alleles are associated with…”
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