Anne John

Anne John

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Anne John

Anne John

Publications by authors named "Anne John"

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35Publications

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Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.

FEBS Open Bio 2019 Nov 23;9(11):1994-2005. Epub 2019 Oct 23.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/2211-5463.12740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823279PMC
November 2019

A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.

Child Neurol Open 2019 8;6:2329048X19880647. Epub 2019 Oct 8.

Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1177/2329048X19880647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852354PMC
October 2019

DNA methylation and repressive H3K9 and H3K27 trimethylation in the promoter regions of PD-1, CTLA-4, TIM-3, LAG-3, TIGIT, and PD-L1 genes in human primary breast cancer.

Clin Epigenetics 2018 15;10:78. Epub 2018 Jun 15.

1Cancer Research Center, Qatar Biomedical Research Institute, College of Science and Engineering, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.

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https://clinicalepigeneticsjournal.biomedcentral.com/article
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http://dx.doi.org/10.1186/s13148-018-0512-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003083PMC
May 2019

Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in .

Mol Syndromol 2019 May 6;10(3):171-176. Epub 2019 Mar 6.

Department of Pediatrics, United Arab Emirates University, Al Ain, UAE.

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http://dx.doi.org/10.1159/000497337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528082PMC
May 2019

A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.

Am J Med Genet A 2018 09 28;176(9):1996-2003. Epub 2018 Jul 28.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.40424DOI Listing
September 2018

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.

BMC Med Genet 2018 03 2;19(1):34. Epub 2018 Mar 2.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0540-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834892PMC
March 2018

Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.

Sci Rep 2018 01 25;8(1):1583. Epub 2018 Jan 25.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates.

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http://dx.doi.org/10.1038/s41598-017-19053-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785505PMC
January 2018

Genetic polymorphisms of cytochrome P450-1A2 (CYP1A2) among Emiratis.

PLoS One 2017 21;12(9):e0183424. Epub 2017 Sep 21.

Department of Pharmacology, College of Medicine and Health Sciences, UAE University, Al Ain, Abu Dhabi, United Arab Emirates.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0183424PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608188PMC
October 2017

Studies on N-Acetyltransferase (NAT2) Genotype Relationships in Emiratis: Confirmation of the Existence of Phenotype Variation among Slow Acetylators.

Ann Hum Genet 2017 Sep 27;81(5):190-196. Epub 2017 Jun 27.

Department of Pharmacology, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1111/ahg.12198DOI Listing
September 2017

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

Am J Med Genet A 2017 May 21;173(5):1257-1263. Epub 2017 Mar 21.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.38153DOI Listing
May 2017

FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.

Bone 2016 12 24;93:187-195. Epub 2015 Nov 24.

Life Sciences Department, Medical Biotechnology, Arabian Gulf University, Manama, Bahrain.

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http://dx.doi.org/10.1016/j.bone.2015.11.015DOI Listing
December 2016

Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy.

Pharmacogenomics 2016 Nov 21;17(16):1785-1793. Epub 2016 Oct 21.

Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.

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http://dx.doi.org/10.2217/pgs-2016-0076DOI Listing
November 2016

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.

Orphanet J Rare Dis 2016 10 21;11(1):139. Epub 2016 Oct 21.

Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/s13023-016-0526-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073853PMC
October 2016

Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.

Am J Med Genet A 2016 Feb 5;170A(2):540-543. Epub 2015 Oct 5.

Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, United Arab Emirates.

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http://doi.wiley.com/10.1002/ajmg.a.37421
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http://dx.doi.org/10.1002/ajmg.a.37421DOI Listing
February 2016

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

Am J Med Genet A 2016 Jan 23;170A(1):156-61. Epub 2015 Sep 23.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1002/ajmg.a.37405
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http://dx.doi.org/10.1002/ajmg.a.37405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448135PMC
January 2016

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

J Mol Neurosci 2015 May 18;56(1):17-23. Epub 2014 Nov 18.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://link.springer.com/10.1007/s12031-014-0463-8
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http://dx.doi.org/10.1007/s12031-014-0463-8DOI Listing
May 2015

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

Gene 2015 Apr 14;561(1):148-56. Epub 2015 Feb 14.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.02.038DOI Listing
April 2015

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

Biochim Biophys Acta 2014 Dec 27;1843(12):2871-7. Epub 2014 Aug 27.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01674889140031
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http://dx.doi.org/10.1016/j.bbamcr.2014.08.013DOI Listing
December 2014

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

Hum Mol Genet 2010 Jun 10;19(11):2239-50. Epub 2010 Mar 10.

Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1093/hmg/ddq103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865377PMC
June 2010

Expression of Epstein-Barr virus in Hodgkin lymphoma in a population of United Arab Emirates nationals.

Leuk Lymphoma 2008 Sep;49(9):1769-77

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1080/10428190802270894DOI Listing
September 2008

Captopril as a potential inhibitor of lung tumor growth and metastasis.

Ann N Y Acad Sci 2008 Sep;1138:65-72

Department of Pharmacology, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1196/annals.1414.011DOI Listing
September 2008

Characterization of a peptide from skin secretions of male specimens of the frog, Leptodactylus fallax that stimulates aggression in male frogs.

Peptides 2005 Apr 10;26(4):597-601. Epub 2004 Dec 10.

Department of Biology, University of Missouri-St. Louis, St. Louis, MO 63121, USA.

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http://dx.doi.org/10.1016/j.peptides.2004.11.004DOI Listing
April 2005