User profiles for Nadia A. Akawi
 | Nadia AkawiAssistant Professor, United Arab Emirates University Verified email at uaeu.ac.ae Cited by 3596 |
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients
Spondylo-meta-epiphyseal dysplasia (SMED) with short limbs and abnormal calcifications (SMED-SL)
is a rare, autosomal recessive human growth disorder, characterized by …
is a rare, autosomal recessive human growth disorder, characterized by …
METTL23, a transcriptional partner of GABPA, is essential for human cognition
…, CR Schubert, RS Hill, NA Akawi… - Human molecular …, 2014 - academic.oup.com
Whereas many genes associated with intellectual disability (ID) encode synaptic proteins,
transcriptional defects leading to ID are less well understood. We studied a large, …
transcriptional defects leading to ID are less well understood. We studied a large, …
Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain …
NA Akawi, FE Canpolat, SM White… - Human …, 2013 - Wiley Online Library
We have recently shown that the hemorrhagic destruction of the brain, subependymal,
calcification, and congenital cataracts is caused by biallelic mutations in the gene encoding …
calcification, and congenital cataracts is caused by biallelic mutations in the gene encoding …
[HTML][HTML] Identification of New Alleles and the Determination of Alleles and Genotypes Frequencies at the CYP2D6 Gene in Emiratis
CYP2D6 belongs to the cytochrome P450 superfamily of enzymes and plays an important
role in the metabolism of 20–25% of clinically used drugs including antidepressants. It …
role in the metabolism of 20–25% of clinically used drugs including antidepressants. It …
[HTML][HTML] A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
Background We previously reported the existence of a unique autosomal recessive
syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial …
syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial …
[HTML][HTML] Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic condition
affecting the vascular system and is characterised by epistaxis, arteriovenous malformations …
affecting the vascular system and is characterised by epistaxis, arteriovenous malformations …
Is autosomal recessive Silver–Russel syndrome a separate entity or is it part of the 3‐M syndrome spectrum?
Intrauterine growth retardation (IUGR) is a nonspecific finding that occurs in approximately
0.17% of all live‐births. However, IUGR can also be a significant feature of many recognized …
0.17% of all live‐births. However, IUGR can also be a significant feature of many recognized …
[HTML][HTML] A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
NA Akawi, S Ben-Salem, J Hertecant, A John… - Orphanet journal of rare …, 2016 - Springer
Background The group of ELAC2-related encephalomyopathies is a recent addition to the
rapidly growing heterogeneous mitochondrial disorders. Results We describe a highly inbred …
rapidly growing heterogeneous mitochondrial disorders. Results We describe a highly inbred …
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings
The gene encoding the AT‐rich interaction domain‐containing protein 1B (ARID1B) has
recently been shown to be one of the most frequently mutated genes in patients with intellectual …
recently been shown to be one of the most frequently mutated genes in patients with intellectual …
A novel mutation in PRG4 gene underlying camptodactyly‐arthropathy‐coxa vara‐pericarditis syndrome with the possible expansion of the phenotype to include …
BACKGROUND Camptodactyly‐arthropathy‐coxa vara‐pericarditis syndrome (CACP) is a
clinically heterogenous congenital disorder caused by mutations in proteoglycan 4 (PRG4), a …
clinically heterogenous congenital disorder caused by mutations in proteoglycan 4 (PRG4), a …