Da'as SI - Search Results

1

PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.

Da'as SI, Aamer W, Hasan W, Al-Maraghi A, Al-Kurbi A, Kilani H, AlRayahi J, Zamel K, Stotland MA, Fakhro KA. Da'as SI, et al. Cells. 2020 Jul 27;9(8):1782. doi: 10.3390/cells9081782. Cells. 2020. PMID: 32726939 Free PMC article.

2

Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction.

Da'as SI, Fakhro K, Thanassoulas A, Krishnamoorthy N, Saleh A, Calver BL, Safieh-Garabedian B, Toft E, Nounesis G, Lai FA, Nomikos M. Da'as SI, et al. Biochem J. 2018 Dec 14;475(24):3933-3948. doi: 10.1042/BCJ20180685. Biochem J. 2018. PMID: 30446606

3

Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model.

Da'as SI, Yalcin HC, Nasrallah GK, Mohamed IA, Nomikos M, Yacoub MH, Fakhro KA. Da'as SI, et al. J Cell Physiol. 2020 Nov;235(11):7870-7888. doi: 10.1002/jcp.29441. Epub 2020 Jan 13. J Cell Physiol. 2020. PMID: 31943169

4

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium; Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H. Pagnamenta AT, et al. Among authors: da as si. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. Brain. 2021. PMID: 33559681 Free PMC article.

5

Microinjection quality control in zebrafish model for genetic manipulations.

Abdelrahman D, Hasan W, Da'as SI. Abdelrahman D, et al. Among authors: da as si. MethodsX. 2021 Jun 17;8:101418. doi: 10.1016/j.mex.2021.101418. eCollection 2021. MethodsX. 2021. PMID: 34430313 Free PMC article.

6

A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.

Al-Kurbi AA, Da'as SI, Aamer W, Krishnamoorthy N, Poggiolini I, Abdelrahman D, Elbashir N, Al-Shabeeb Akil A, Glass GE, Fakhro KA. Al-Kurbi AA, et al. Among authors: da as si. Eur J Med Genet. 2022 Apr;65(4):104455. doi: 10.1016/j.ejmg.2022.104455. Epub 2022 Feb 16. Eur J Med Genet. 2022. PMID: 35182808

7

Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients.

Alkowari M, Espino-Guarch M, Daas S, Abdelrahman D, Hasan W, Krishnamoorthy N, Sathappan A, Sheehan P, Panhuys NV, The Qatar Genome Program Research Consortium, Estivill X. Alkowari M, et al. Int J Mol Sci. 2022 Mar 21;23(6):3369. doi: 10.3390/ijms23063369. Int J Mol Sci. 2022. PMID: 35328790 Free PMC article.

8

Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.

Elfatih A, Da'as SI, Abdelrahman D, Mbarek H, Mohammed I, Hasan W, Fakhro KA; The Qatar Genome Program Research Consortium; Estivill X, Mifsud B. Elfatih A, et al. Among authors: da as si. Hum Mol Genet. 2022 Aug 23;31(16):2796-2809. doi: 10.1093/hmg/ddac073. Hum Mol Genet. 2022. PMID: 35348702 Free PMC article.

9

Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model.

Da'as SI, Hasan W, Salem R, Younes N, Abdelrahman D, Mohamed IA, Aldaalis A, Temanni R, Mathew LS, Lorenz S, Yacoub M, Nomikos M, Nasrallah GK, Fakhro KA. Da'as SI, et al. Int J Mol Sci. 2022 Aug 9;23(16):8840. doi: 10.3390/ijms23168840. Int J Mol Sci. 2022. PMID: 36012114 Free PMC article.

10

CD14+/CD31+ monocytes expanded by UM171 correct hemophilia A in zebrafish upon lentiviral gene transfer of factor VIII.

Elnaggar M, Al-Mohannadi A, Hasan W, Abdelrahman D, Al-Kubaisi MJ, Pavlovski I, Gentilcore G, Sathappan A, Kizhakayil D, Ali AI, Mohan S, Olagunju D, Cugno C, Grivel JC, Borsotti C, Follenzi A, Da'as SI, Deola S. Elnaggar M, et al. Among authors: da as si. Blood Adv. 2023 Mar 14;7(5):697-711. doi: 10.1182/bloodadvances.2022009014. Blood Adv. 2023. PMID: 36477543 Free PMC article.

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