Ali BR - Search Results

1

Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients.

Ivantsik O, John A, Kydonopoulou K, Mitropoulos K, Gerou S, Ali BR, Patrinos GP. Ivantsik O, et al. Among authors: ali br. Genes (Basel). 2024 Feb 28;15(3):309. doi: 10.3390/genes15030309. Genes (Basel). 2024. PMID: 38540370 Free PMC article.

2

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.

Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR. Hume AN, et al. Among authors: ali br. Hum Mol Genet. 2009 Jan 15;18(2):267-77. doi: 10.1093/hmg/ddn354. Epub 2008 Oct 22. Hum Mol Genet. 2009. PMID: 18945719 Free PMC article.

3

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.

Ali BR, Xu H, Akawi NA, John A, Karuvantevida NS, Langer R, Al-Gazali L, Leitinger B. Ali BR, et al. Hum Mol Genet. 2010 Jun 1;19(11):2239-50. doi: 10.1093/hmg/ddq103. Epub 2010 Mar 10. Hum Mol Genet. 2010. PMID: 20223752 Free PMC article.

4

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Ali BR, Ben-Rebeh I, John A, Akawi NA, Milhem RM, Al-Shehhi NA, Al-Ameri MM, Al-Shamisi SA, Al-Gazali L. Ali BR, et al. PLoS One. 2011;6(10):e26206. doi: 10.1371/journal.pone.0026206. Epub 2011 Oct 14. PLoS One. 2011. PMID: 22022569 Free PMC article.

5

Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.

Hume AN, John A, Akawi NA, Al-Awadhi AM, Al-Suwaidi SS, Al-Gazali L, Ali BR. Hume AN, et al. Among authors: ali br. Mol Cell Biochem. 2013 Jan;373(1-2):247-57. doi: 10.1007/s11010-012-1496-3. Epub 2012 Nov 4. Mol Cell Biochem. 2013. PMID: 23124896

6

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.

Al-Kindi A, Kizhakkedath P, Xu H, John A, Sayegh AA, Ganesh A, Al-Awadi M, Al-Anbouri L, Al-Gazali L, Leitinger B, Ali BR. Al-Kindi A, et al. Among authors: ali br. BMC Med Genet. 2014 Apr 11;15:42. doi: 10.1186/1471-2350-15-42. BMC Med Genet. 2014. PMID: 24725993 Free PMC article.

7

Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome.

Kizhakkedath P, Loregger A, John A, Bleijlevens B, Al-Blooshi AS, Al-Hosani AH, Al-Nuaimi AM, Al-Gazali L, Zelcer N, Ali BR. Kizhakkedath P, et al. Among authors: ali br. Biochim Biophys Acta. 2014 Dec;1843(12):2871-7. doi: 10.1016/j.bbamcr.2014.08.013. Epub 2014 Aug 27. Biochim Biophys Acta. 2014. PMID: 25173816 Free article.

8

A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.

Ben-Salem S, Al-Shamsi AM, John A, Ali BR, Al-Gazali L. Ben-Salem S, et al. Among authors: ali br. J Mol Neurosci. 2015 May;56(1):17-23. doi: 10.1007/s12031-014-0463-8. Epub 2014 Nov 18. J Mol Neurosci. 2015. PMID: 25403906

9

Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.

John A, Kizhakkedath P, Al-Gazali L, Ali BR. John A, et al. Among authors: ali br. Gene. 2015 Apr 25;561(1):148-56. doi: 10.1016/j.gene.2015.02.038. Epub 2015 Feb 14. Gene. 2015. PMID: 25688877

10

Success stories in genomic medicine from resource-limited countries.

Mitropoulos K, Al Jaibeji H, Forero DA, Laissue P, Wonkam A, Lopez-Correa C, Mohamed Z, Chantratita W, Lee MT, Llerena A, Brand A, Ali BR, Patrinos GP. Mitropoulos K, et al. Among authors: ali br. Hum Genomics. 2015 Jun 18;9(1):11. doi: 10.1186/s40246-015-0033-3. Hum Genomics. 2015. PMID: 26081768 Free PMC article.

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