John A - Search Results

1

Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.

Badawi S, Varghese DS, Raj A, John A, Al-Musafir HS, Al-Ghamari AJ, Alshamsi AR, Ouda SH, Al-Dirbashi G, Ali BR. Badawi S, et al. Among authors: john a. Front Cell Dev Biol. 2023 Nov 23;11:1294748. doi: 10.3389/fcell.2023.1294748. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 38078000 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: john a. 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. Among authors: john a. 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. Among authors: john a. 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: john a. 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: john a. 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: john a. 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: john a. 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. 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

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Ben-Salem S, Sobreira N, Akawi NA, Al-Shamsi AM, John A, Pramathan T, Valle D, Ali BR, Al-Gazali L. Ben-Salem S, et al. Among authors: john a. Am J Med Genet A. 2016 Jan;170A(1):156-61. doi: 10.1002/ajmg.a.37405. Epub 2015 Sep 23. Am J Med Genet A. 2016. PMID: 26395437 Free PMC article.

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