Genetic diversity among the Arabs

AS Teebi, SA Teebi - Public Health Genomics, 2005 - karger.com
The Arabs in general are genetically diverse. Major factors that contributed to their diversity
include the migrations of Semitic tribes from the Arabian Peninsula, the Islamic expansion in …

[HTML][HTML] The road for survival improvement of cystic fibrosis patients in Arab countries

H Banjar, G Angyalosi - International Journal of Pediatrics and Adolescent …, 2015 - Elsevier
Cystic fibrosis (CF) is a lethal, monogenic disorder that affects multiple organ systems of the
body. The incidence has been described before in the Middle East to be 1 in 2000 to 1 in …

Preclinical studies of a rare CF-causing mutation in the second nucleotide binding domain (c. 3700A> G) show robust functional rescue in primary nasal cultures by …

O Laselva, J McCormack, C Bartlett, W Ip… - Journal of Personalized …, 2020 - mdpi.com
The combination therapies ORKAMBITM and TRIKAFTATM are approved for people who
have the F508del mutation on at least one allele. In this study we examine the effects of …

Cystic fibrosis in India

SK Kabra, M Kabra, R Lodha… - Pediatric pulmonology, 2007 - Wiley Online Library
Cystic fibrosis (CF) was considered to be non‐existent in Indian subcontinent. Reports in last
one decade have suggested that cystic fibrosis occurs in India but its precise magnitude is …

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia

HH Banjar, L Tuleimat, AAA El Seoudi… - Annals of Saudi …, 2020 - annsaudimed.net
ABSTRACT BACKGROUND: Cystic fibrosis (CF) occurs in populations in Saudi Arabia and
the Gulf area. Approximately 2000 known variants have been identified for the CF …

[HTML][HTML] CFTR modulator therapy for cystic fibrosis caused by the rare c. 3700A> G mutation

PW Phuan, PM Haggie, JA Tan, AA Rivera… - Journal of Cystic …, 2021 - Elsevier
Abstract Background The c. 3700A> G mutation, a rare cystic fibrosis (CF)-causing CFTR
mutation found mainly in the Middle East, produces full-length transcript encoding a …

[HTML][HTML] Mutational spectrum of cystic fibrosis in the Lebanese population

C Farra, R Menassa, J Awwad, Y Morel… - Journal of cystic …, 2010 - Elsevier
BACKGROUND: Cystic fibrosis (CF) is the most common autosomal recessive disease in
Caucasians; it is however, considered to be rare in the Arab populations. Reports of the …

The emergence of multidrug-resistant Pseudomonas aeruginosa in cystic fibrosis patients on inhaled antibiotics

A AbdulWahab, K Zahraldin, MAS Ahmed, SA Jarir… - Lung India, 2017 - journals.lww.com
Objective: The objective of the study was to describe the frequency of MDR-PA recovered
from the lower respiratory samples of pediatric and adult CF patients, and its antibiotic …

Genetic, cell biological, and clinical interrogation of the CFTR mutation c. 3700 A> G (p. Ile1234Val) informs strategies for future medical intervention

SV Molinski, T Gonska, LJ Huan, B Baskin… - Genetics in …, 2014 - nature.com
Purpose: The purpose of this study was to determine the molecular consequences of the
variant c. 3700 A> G in the cystic fibrosis transmembrane conductance regulator (CFTR) …

Burden of Mendelian disorders in a large Middle Eastern biobank

W Aamer, A Al-Maraghi, N Syed, GD Gandhi, E Aliyev… - Genome Medicine, 2024 - Springer
Background Genome sequencing of large biobanks from under-represented ancestries
provides a valuable resource for the interrogation of Mendelian disease burden at world …