Zobrazeno 1 - 10
of 113
pro vyhledávání: '"RANAD SHAHEEN"'
Autor:
Mary E. McQuaid, Kashif Ahmed, Stephanie Tran, Justine Rousseau, Ranad Shaheen, Kristin D. Kernohan, Kyoko E. Yuki, Prerna Grover, Ema S. Dreseris, Sameen Ahmed, Lucie Dupuis, Jennifer Stimec, Mary Shago, Zuhair N. Al-Hassnan, Roch Tremblay, Philipp G. Maass, Michael D. Wilson, Eyal Grunebaum, Kym M. Boycott, François-Michel Boisvert, Sateesh Maddirevula, Eissa A. Faqeih, Fahad Almanjomi, Zaheer Ullah Khan, Fowzan S. Alkuraya, Philippe M. Campeau, Peter Kannu, Eric I. Campos, Hugo Wurtele
Publikováno v:
JCI Insight, Vol 7, Iss 10 (2022)
The eukaryotic CDC45/MCM2-7/GINS (CMG) helicase unwinds the DNA double helix during DNA replication. The GINS subcomplex is required for helicase activity and is, therefore, essential for DNA replication and cell viability. Here, we report the identi
Externí odkaz:
https://doaj.org/article/3826d777770e43a3ada9bdd9c34ba315
Autor:
Farhan S. Cyprian, Muhammad Suleman, Ibrahim Abdelhafez, Asmma Doudin, Ibn Mohammed Masud Danjuma, Fayaz Ahmad Mir, Aijaz Parray, Zohaib Yousaf, Mohammed Yaseen Ahmed Siddiqui, Alaaedin Abdelmajid, Mohammad Mulhim, Shaikha Al-Shokri, Mohammad Abukhattab, Ranad Shaheen, Eyad Elkord, Abdul Latif Al-khal, Abdel-Naser Elzouki, Guillermina Girardi
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Coronavirus disease-2019 (COVID-19) was declared as a pandemic by WHO in March 2020. SARS-CoV-2 causes a wide range of illness from asymptomatic to life-threatening. There is an essential need to identify biomarkers to predict disease severity and mo
Externí odkaz:
https://doaj.org/article/6039d3a5a8aa45719fab5f141299d3e8
Autor:
Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al-Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad-Hani Temsah, Maha Tulbah, Rasha F. Aljelaify, Saad A. Alshahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al-Hassnan, Ghada M.H. Abdel-Salam, Nouriya Al-Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al-Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman A. Aldeeri, Dorota M. Monies, Fowzan S. Alkuraya
Publikováno v:
Cell Reports, Vol 10, Iss 2, Pp 148-161 (2015)
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mappi
Externí odkaz:
https://doaj.org/article/50640b009bf24893bb6eadc42e852726
Autor:
M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E. Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A. Nanjiani, Saima Rasheed, R. Sean Hill, Sofia B. Lizarraga, Danielle Gleason, Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh
Publikováno v:
Cell Reports, Vol 8, Iss 3, Pp 647-655 (2014)
Autism spectrum disorder (ASD) and intellectual disability (ID) are often comorbid, but the extent to which they share common genetic causes remains controversial. Here, we present two autosomal-recessive “founder” mutations in the CC2D1A gene ca
Externí odkaz:
https://doaj.org/article/9cd4b10c06d8453cacf637629adde985
Autor:
Eyad Elkord, Mohamed Abu Nada, Varun Sasidharan Nair, Reem Saleh, Khaled Murshed, Ranad Shaheen
Publikováno v:
Cancer Immunology, Immunotherapy. 70:2625-2638
There is an increased risk of colorectal cancer (CRC) development in patients with non-insulin-dependent type 2 diabetes. CD8+ T cells have been implicated in diabetes and are crucial for anti-tumor immunity. However, transcriptomic profiling for CD8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e54885b70065f5a47132937d0903d47
https://doi.org/10.1007/s00262-021-02879-7
https://doi.org/10.1007/s00262-021-02879-7
Autor:
Fowzan S. Alkuraya, Ranad Shaheen, Dorota Monies, Awad Al Qahtani, Mohammad Shagrani, Muneerah A. Alzouman, Nour Ewida, Homoud A. Al-Hebbi, Eman Alobeid, Mohamed Abouelhoda, Tarfa Al-Sheddi, Abdulrahman Al-Hussaini, Amal Alhashem, Fatema Alzahrani, Saud Alsahli, Hanan E. Shamseldin, Nisha Patel, Eissa Faqeih, Rana Alomar
Publikováno v:
Hepatology. 71:2067-2079
Background and aims The clinical consequences of defective primary cilium (ciliopathies) are characterized by marked phenotypic and genetic heterogeneity. Although fibrocystic liver disease is an established ciliopathy phenotype, severe neonatal chol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21e65c8a669aba79f52494eecabfb866
https://doi.org/10.1002/hep.30982
https://doi.org/10.1002/hep.30982
Autor:
Sadik Oner, Betul Pir, Felix Hoffmann, Betul Altunkaynak, Karsten Boldt, Xiaoyu Peng, Fowzan S. Alkuraya, Sebiha Cevik, Ying Cao, Asli Karaman, Lama Al-Abdi, Marius Ueffing, Franziska Woerz, Ferhan Yenisert, Ranad Shaheen, Miray Cakiroglu, Mustafa S. Pir, Atiyye Zorluer, Oktay I. Kaplan, Tina Beyer
The term “ciliopathy” refers to a group of over 35 rare disorders characterized by defective cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis hypoplasia, polydactyly, and retinopathy. Even though many genes h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::63a6f3e4894f80172c7bc15dca3f1880
https://doi.org/10.21203/rs.3.rs-622797/v1
https://doi.org/10.21203/rs.3.rs-622797/v1
Autor:
Mohammad Abukhattab, Mohammed Yassin Ahmed Siddiqui, Fayaz Mir, Guillermina Girardi, Zohaib Yousaf, Ala Eldin, Aijaz Parray, Mohammad Mulhim, Muhammad Suleman, Farhan S. Cyprian, Ranad Shaheen, Abdul Latif Al-khal, Abdel Naser Al Zouki, Ibn Mohammed Masud Danjuma, Asmma Doudin, Shaikha D. Al-Shokri, Eyad Elkord, Ibrahim Abdelhafez
Coronavirus disease-2019 (COVID-19) was declared as a pandemic by WHO in March 2020. SARS-CoV-2 causes a wide range of illness from asymptomatic to life-threatening. There is an essential need to identify biomarkers to predict disease severity and mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5ade1e3b1a7f28176115b468dc9e827
https://doi.org/10.21203/rs.3.rs-682190/v1
https://doi.org/10.21203/rs.3.rs-682190/v1
Autor:
Fowzan S. Alkuraya, Mais Hashem, Joseph G. Gleeson, Tarfa Al-Sheddi, Fatema Alzahrani, Firdous Abdulwahab, Nadia Saqati, Mohammad M. Al-Qattan, Valentina Stanley, Futwan Al-Mohanna, Nour Ewida, Eman Alobeid, Abduljabbar Alshenqiti, Fatma Mujgan Sonmez, Hamad Al-Zaidan, Ranad Shaheen, Damir Musaev, Niema Ibrahim, Nan Jiang
Publikováno v:
The American Journal of Human Genetics. 104:731-737
Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we mapped a ciliopathy phenotype that most closely matches Joubert syndrome (hypotonia, develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae46f21cdaf9ed5cb81a3130d68fdd4
https://doi.org/10.1016/j.ajhg.2019.02.018
https://doi.org/10.1016/j.ajhg.2019.02.018
Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia
Autor:
Fowzan S. Alkuraya, Maha M. Eid, Ghada M H Abdel-Salam, Nour Ewida, Inas Mazen, Ranad Shaheen
Publikováno v:
American Journal of Medical Genetics Part A. 179:1053-1057
We report two siblings with microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia, in whom whole exome sequencing revealed a novel homozygous missense (c.770T>C, p.[Leu257Pro]) variant in the hedgehog acyl-transferase gene (H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf9ef0408f664e0ce7154fa5607d689
https://doi.org/10.1002/ajmg.a.61133
https://doi.org/10.1002/ajmg.a.61133