Search Results - "Ali Mohamoud, Hussein Sheikh"

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis by Yang, Chunbo, Xu, Yaobo, Yu, Min, Lee, David, Alharti, Sameer, Hellen, Nicola, Ahmad Shaik, Noor, Banaganapalli, Babajan, Sheikh Ali Mohamoud, Hussein, Elango, Ramu, Przyborski, Stefan, Tenin, Gennadiy, Williams, Simon, O'Sullivan, John, Al-Radi, Osman O, Atta, Jameel, Harding, Sian E, Keavney, Bernard, Lako, Majlinda, Armstrong, Lyle

“…Hypoplastic left heart syndrome (HLHS) is among the most severe forms of congenital heart disease. Although the consensus view is that reduced flow through the…”
Get full text

Detection of genetic alterations in gastric cancer patients from Saudi Arabia using comparative genomic hybridization (CGH) by Bibi, Fehmida, Ali, Isse, Naseer, Muhammad Imran, Ali Mohamoud, Hussein Sheikh, Yasir, Muhammad, Alvi, Sana Akhtar, Jiman-Fatani, Asif Ahmed, Sawan, Ali, Azhar, Esam Ibraheem

“…The present study was conducted to discover genetic imbalances such as DNA copy number variations (CNVs) associated with gastric cancer (GC) and to examine…”
Get full text

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family by Dursun, Fatma, Mohamoud, Hussein Sheikh Ali, Karim, Noreen, Naeem, Muhammad, Jelani, Musharraf, Kırmızıbekmez, Heves

“…Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing loss in both sexes and premature…”
Get full text

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family by Jelani, Musharraf, Kang, Changsoo, Mohamoud, Hussein Sheikh Ali, Al-Rehaili, Rayan, Almramhi, Mona Mohammad, Serafi, Rehab, Yang, Huanming, Al-Aama, Jumana Yousuf, Naeem, Muhammad, Alkhiary, Yaser Mohammad

“…Highlights • PFE is mainly associated with heterozygous mutations in PTH1R gene. • A PFE family with autosomal recessive inheritance underwent whole-exome…”
Get full text

First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene by Ali Mohamoud, Hussein Sheikh, Manwar Hussain, Muhammad Ramzan, El-Harouni, Ashraf A., Shaik, Noor Ahmad, Qasmi, Zaheer Ulhaq, Merican, Amir Feisal, Baig, Mukhtiar, Anwar, Yasir, Asfour, Hani, Bundajji, Nabil S., al-Aama, Jumana Yousuf

“…GalNAc-T1, a key candidate of GalNac-transferases genes family that is involved in mucin-type O-linked glycosylation pathway, is expressed in most biological…”
Get full text

From genes to health - challenges and opportunities by Manwar Hussain, Muhammad Ramzan, Khan, Asifullah, Ali Mohamoud, Hussein Sheikh

“…In genome science, the advancement in high-throughput sequencing technologies and bioinformatics analysis is facilitating the better understanding of Mendelian…”
Get full text

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities by Jelani, Musharraf, Dooley, Hannah C., Gubas, Andrea, Mohamoud, Hussein Sheikh Ali, Khan, Muhammad Tariq Masood, Ali, Zahir, Kang, Changsoo, Rahim, Fazal, Jan, Amin, Vadgama, Nirmal, Khan, Muhammad Ismail, Al-Aama, Jumana Yousuf, Khan, Asifullah, Tooze, Sharon A, Nasir, Jamal

“…Defects in autophagy are implicated in a growing number of diseases. Jelani et al. identify a mutation in WIPI2, a major autophagy gene, associated with a…”
Get full text

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3 by Ahmed, Saleem, Jelani, Musharraf, Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Almramhi, Mona Mohammad, Anshasi, Wasim, Ahmed, Naushad Ali Basheer, Wang, Jun, Nasir, Jamal, Al-Aama, Jumana Yousuf

“…Abstract Perrault syndrome (PRLTS) is a clinically and genetically heterogeneous disorder. Both male and female patients suffer from sensory neuronal hearing…”
Get full text

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family by Jelani, Musharraf, Ahmed, Saleem, Almramhi, Mona Mohammad, Mohamoud, Hussein Sheikh Ali, Bakur, Khadijah, Anshasi, Waseem, Wang, Jun, Al-Aama, Jumana Yousuf

“…Abstract Congenital generalized lipodystrophies (CGLs) are a heterogeneous group of rare, monogenic disorders characterized by loss of sub-cutaneous fat,…”
Get full text

Whole exome sequencing reveals a homozygous SGCB variant in a Pakhtun family with limb girdle muscular dystrophy (LGMDR4) phenotype by Tariq, Muhammad, Latif, Muhammad, Inam, Memona, Jan, Amin, Bibi, Nousheen, Mohamoud, Hussein Sheikh Ali, Ali, Isse, Ahmad, Habib, Khan, Aziz, Nasir, Jamal, Wadood, Abdul, Jelani, Musharraf

“…Limb-girdle muscular dystrophy (LGMD) is a term used for proximal muscles weakness mainly affecting arms, shoulders, legs and thighs. These patients have…”
Get full text

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54) by Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Jelani, Musharraf, Ahmad, Saleem, Vadgama, Nirmal, Bakur, Khadijah, Simpson, Michael, Al-Aama, Jumana Yousuf, Nasir, Jamal

“…Hereditary spastic paraplegias (HSP), a group of genetically heterogeneous neurological disorders with more than 56 documented loci (SPG1-56), are described…”
Get full text

Truncating mutation in intracellular phospholipase A1 gene by Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Jelani, Musharraf, Ahmad, Saleem, Vadgama, Nirmal, Bakur, Khadijah, Simpson, Michael, Al-Aama, Jumana Yousuf, Nasir, Jamal

“…Hereditary spastic paraplegias (HSP), a group of genetically heterogeneous neurological disorders with more than 56 documented loci (SPG1-56), are described…”
Get full text

The alkylglycerol monooxygenase ( AGMO ) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family by Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Ahmed, Saleem, Almramhi, Mona Mohammad, Shuaib, Taghreed Mohammad, Wang, Jun, Al-Aama, Jumana Yousuf, Everett, Kate, Nasir, Jamal, Jelani, Musharraf

“…Abstract Autosomal recessive primary microcephaly (MCPH) refers to a genetically heterogeneous group of neurodevelopmental disorders in which patients exhibit…”
Get full text

The Microbial Pathology of Neu5Ac and Gal Epitopes by Hussain, Muhammad Ramzan Manwar, Asfour, Hani, Yasir, Muhammad, Khan, Asifullah, Mohamoud, Hussein Sheikh Ali, Al-Aama, Jumana Y.

“…Glycans play a vital role in modulating many physiological and pathological phenomena of microbes and humans, such as bacterial adhesion, colonization,…”
Get full text

P2: Finetuning of the genotype-phenotype correlation in Cri du Chat syndrome using array CGH by Mul, Adri, Man, Hai-Yen, Mathijssen, Inge B., Nannenberg, Eline A., Mohamoud, Hussein Sheikh Ali, Winter, Roos E., Cobben, Jan Maarten, Hoovers, Jan M.

Get full text

An identification and prediction methods for feature-subsets of CpG islands methylation based on human peripheral blood leukocytes of chromosome 21q by Ali, I., Mohamoud, H. S. A.

“…The pace of technology has allowed classification of feature-subset of methylated and unmethylated of CpG islands of DNA sequence properties. As methylation of…”
Get full text