Khaled K. Abu-Amero

A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report (2009)

Abu-Amero, Khaled K, Al-Dhalaan, Hesham, Bohlega, Saeed, Hellani, Ali, Taylor, Robert W

Abstract Introduction There are currently 23 missense point mutations and one 4 basepair deletion spanning different mitochondrial genes associated with mitochondrial encephalopathy, lactic acidosis...

Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions (2009)

Abu-Amero, Khaled K, Hellani, Ali, González, Ana M, Larruga, Jose M, Cabrera, Vicente M, Underhill, Peter A

Abstract Background Human origins and migration models proposing the Horn of Africa as a prehistoric exit route to Asia have stimulated molecular genetic studies in the region using uniparental loci....

Mitochondrial DNA haplogroup H structure in North Africa (2009)

Ennafaa, Hajer, Cabrera, Vicente M, Abu-Amero, Khaled K, González, Ana M, Amor, Mohamed B, Bouhaha, Rym, ...

Abstract Background The Strait of Gibraltar separating the Iberian Peninsula from North Africa is thought to be a stronger barrier to gene flow for male than for female lineages. However, the recent...

A novel PTCH1germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report (2009)

Hellani, Ali, Baghdadi, Hiba, Dabbour, Nidal, Almassri, Nidal, Abu-Amero, Khaled K

Abstract Introduction Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws and developmental...

Absence of mtDNA mutations in leukocytes of CADASIL patients (2008)

Abu-Amero, Khaled K, Hellani, Ali, Bohlega, Saeed

Abstract Background Ultrastructural and biochemical abnormalities of mitochondria have been reported in skeletal muscle biopsies of CADASIL patients with mutations in the NOTCH3 nuclear gene....

Mitochondrial DNA structure in the Arabian Peninsula (2008)

Abu-Amero, Khaled K, Larruga, José M, Cabrera, Vicente M, González, Ana M

Abstract Background Two potential migratory routes followed by modern humans to colonize Eurasia from Africa have been proposed. These are the two natural passageways that connect both continents:...

CADASIL in Arabs: clinical and genetic findings (2007)

Bohlega, Saeed, Al Shubili, Asmahan, Edris, Abdulrahman, Alreshaid, Abdulrahman, AlKhairallah, Thamer, AlSous, M Walid, ...

Abstract Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a...

Mitochondrial lineage M1 traces an early human backflow to Africa (2007)

González, Ana M, Larruga, José M, Abu-Amero, Khaled K, Shi, Yufei, Pestano, José, Cabrera, Vicente M

Abstract Background The out of Africa hypothesis has gained generalized consensus. However, many specific questions remain unsettled. To know whether the two M and N macrohaplogroups that colonized...

The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease (2007)

Abu-Amero, Khaled K, Al-Mohanna, Futwan, Al-Boudari, Olayan M, Mohamed, Gamal H, Dzimiri, Nduna

Abstract Background The role of gene-environment interactions as risk factors for coronary heart disease (CAD) remains largely undefined. Such interactions may involve gene mutations and disease...

Eurasian and African mitochondrial DNA influences in the Saudi Arabian population (2007)

Abu-Amero, Khaled K, González, Ana M, Larruga, Jose M, Bosley, Thomas M, Cabrera, Vicente M

Abstract Background Genetic studies of the Arabian Peninsula are scarce even though the region was the center of ancient trade routes and empires and may have been the southern corridor for the...

E-selectin S128R polymorphism and severe coronary artery disease in Arabs (2006)

Abu-Amero, Khaled K, Al-Boudari, Olayan M, Mohamed, Gamal H, Dzimiri, Nduna

Abstract Background The E-selectin p. S128R (g. A561C) polymorphism has been associated with the presence of angiographic coronary artery disease (CAD) in some populations, but no data is currently...

T nulland M nullgenotypes of the glutathione S-transferase gene are risk factor for CAD independent of smoking (2006)

Abu-Amero, Khaled K, Al-Boudari, Olayan M, Mohamed, Gamal H, Dzimiri, Nduna

Abstract Background The association of the deletion in GSTT1 and GSTM1 genes with coronary artery disease (CAD) among smokers is controversial. In addition, no such investigation has previously been...

The Glu27 genotypes of the Beta2-adrenergic receptor are predictors for severe coronary artery disease (2006)

Abu-Amero, Khaled K, Al-Boudari, Olayan M, Mohamed, Gamal H, Dzimiri, Nduna

Abstract Background The role of the Beta2-adrenoceptor (beta2-AR) Gln27Glu polymorphism in the manifestation of cardiovascular diseases is still unclear. Methods In the present study, we evaluated...

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

Sugiana, Canny, Pagliarini, David J., McKenzie, Matthew, Kirby, Denise M., Salemi, Renato, Abu-Amero, Khaled K., ...

Complex I (NADH:ubiquinone oxidoreductase) is the first and largest multimeric complex of the mitochondrial respiratory chain. Human complex I comprises seven subunits encoded by mitochondrial DNA...