Search Results - "El Shamieh, Said"

Association between SNPs of Circulating Vascular Endothelial Growth Factor Levels, Hypercholesterolemia and Metabolic Syndrome by Salami, Ali, El Shamieh, Said

“…Four single nucleotide polymorphisms (SNPs); rs6921438 and rs4416670 in - , rs6993770 in and rs10738760 in - were reported to explain up to 50% of the…”
Get full text

CHM mutation spectrum and disease: An update at the time of human therapeutic trials by Zeitz, Christina, Nassisi, Marco, Laurent‐Coriat, Caroline, Andrieu, Camille, Boyard, Fiona, Condroyer, Christel, Démontant, Vanessa, Antonio, Aline, Lancelot, Marie‐Elise, Frederiksen, Helen, Kloeckener‐Gruissem, Barbara, El‐Shamieh, Said, Zanlonghi, Xavier, Meunier, Isabelle, Roux, Anne‐Françoise, Mohand‐Saïd, Saddek, Sahel, José‐Alain, Audo, Isabelle

“…Choroideremia is an X‐linked inherited retinal disorder (IRD) characterized by the degeneration of retinal pigment epithelium, photoreceptors, choriocapillaris…”
Get full text

Peripheral blood mononuclear cells extracts VEGF protein levels and VEGF mRNA: Associations with inflammatory molecules in a healthy population by Gorenjak, Vesna, Vance, Dwaine R, Petrelis, Alexandros M, Stathopoulou, Maria G, Dadé, Sébastien, El Shamieh, Said, Murray, Helena, Masson, Christine, Lamont, John, Fitzgerald, Peter, Visvikis-Siest, Sophie

“…Vascular endothelial growth factor (VEGF) is a signal protein, implicated in various physiological and pathophysiological processes together with other common…”
Get full text

rs622342 in SLC22A1, CYP2C92 and CYP2C93 and Glycemic Response in Individuals with Type 2 Diabetes Mellitus Receiving Metformin/Sulfonylurea Combination Therapy: 6-Month Follow-Up Study by Naja, Khaled, Salami, Ali, El Shamieh, Said, Fakhoury, Rajaa

“…Background and Objective: Since the treatment outcome with oral anti-diabetics differs between individuals, the objective of this study is to evaluate the…”
Get full text

The rs3957357C>T SNP in GSTA1 Is Associated with a Higher Risk of Occurrence of Hepatocellular Carcinoma in European Individuals by Akhdar, Hanane, El Shamieh, Said, Musso, Orlando, Désert, Romain, Joumaa, Wissam, Guyader, Dominique, Aninat, Caroline, Corlu, Anne, Morel, Fabrice

“…Glutathione S-transferases (GSTs) detoxify toxic molecules by conjugation with reduced glutathione and regulate cell signaling. Single nucleotide polymorphisms…”
Get full text

Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy by El Shamieh, Said, Neuillé, Marion, Terray, Angélique, Orhan, Elise, Condroyer, Christel, Démontant, Vanessa, Michiels, Christelle, Antonio, Aline, Boyard, Fiona, Lancelot, Marie-Elise, Letexier, Mélanie, Saraiva, Jean-Paul, Léveillard, Thierry, Mohand-Saïd, Saddek, Goureau, Olivier, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle

“…Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited retinal disorder characterized by photoreceptor cell death and genetic…”
Get full text

The Association of rs1898830 in Toll-Like Receptor 2 with Lipids and Blood Pressure by Chedid, Pia, Salami, Ali, Shamieh, Said El

“…Background and Objective: Toll-like receptors (TLRs) are important components of the innate immune system, involved in establishing immunity to infections…”
Get full text

Cone Dystrophy in Patient with Homozygous RP1L1 Mutation by Takahashi, Hiroshi, Audo, Isabelle, Yamaki, Kunihiko, Sugawara, Yuko, Akeo, Keiichiro, El Shamieh, Said, Gocho, Kiyoko, Kameya, Shuhei, Kikuchi, Sachiko, Zeitz, Christina

“…The purpose of this study was to determine whether an autosomal recessive cone dystrophy was caused by a homozygous RP1L1 mutation. A family including one…”
Get full text

Is There a Link Between Nutrition, Genetics, and Cardiovascular Disease? by Ghoch, Marwan El, Shamieh, Said El

“…Cardiovascular diseases (CVDs) are a group of disorders that mainly include coronary, cerebrovascular and rheumatic heart diseases [...]…”
Get full text

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes by Jaffal, Lama, Joumaa, Wissam H, Assi, Alexandre, Helou, Charles, Cherfan, George, Zibara, Kazem, Audo, Isabelle, Zeitz, Christina, El Shamieh, Said

“…To identify disease-causing mutations in four Lebanese families: three families with Bardet-Biedl and one family with Usher syndrome (BBS and USH…”
Get full text

rs2569190A>G in CD14 is Independently Associated with Hypercholesterolemia: A Brief Report by Salami, Ali, Costanian, Christy, El Shamieh, Said

“…Many studies have assessed the implication of ( ) molecules and its single nucleotide polymorphism rs2569190A>G with different complex diseases, such as…”
Get full text

Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy by Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina, Saraiva, Jean-Paul, Letexier, Mélanie, Condroyer, Christel, Démontant, Vanessa, Antonio, Aline, Lancelot, Marie-Elise, Boulanger-Scemama, Elise, El Shamieh, Said, Mohand-Saïd, Saddek

“…We report ophthalmic and genetic findings in families with autosomal recessive rod-cone dystrophy (arRCD) and RP1 mutations. Detailed ophthalmic examination…”
Get full text

Association of TLR4 Polymorphisms, Expression, and Vitamin D with Helicobacter pylori Infection by Assaad, Shafika, Costanian, Christy, Jaffal, Lama, Tannous, Fida, Stahopoulou, Maria G, El Shamieh, Said

“…Helicobacter pylori ( ) infection is the strongest recognized risk factor for gastric adenocarcinoma. Since previous observations have shown that polymorphisms…”
Get full text

Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients by Jaffal, Lama, Joumaa, Wissam H, Assi, Alexandre, Helou, Charles, Condroyer, Christel, El Dor, Maya, Cherfan, Georges, Zeitz, Christina, Audo, Isabelle, Zibara, Kazem, El Shamieh, Said

“…To identify ( ) causative mutations in six Lebanese patients from three families, of whom four had a presumed clinical diagnosis of autosomal recessive…”
Get full text

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy by El Shamieh, Said, Méjécase, Cécile, Bertelli, Matteo, Terray, Angélique, Michiels, Christelle, Condroyer, Christel, Fouquet, Stéphane, Sadoun, Maxime, Clérin, Emmanuelle, Liu, Binqian, Léveillard, Thierry, Goureau, Olivier, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina

“…We identified herein additional patients with rod-cone dystrophy (RCD) displaying mutations in , encoding the ciliary centrosomal protein kizuna and performed…”
Get full text

Trends in scientific publishing: does quantity compromises quality in life sciences and medicine? by El Shamieh, Said, Chebly, Alain

Get full text

Gram-negative bacterial colonization in the gut: Isolation, characterization, and identification of resistance mechanisms by Khachab, Yara, El Shamieh, Said, Sokhn, Elie Salem

“…The gut microbiome is made up of a diverse range of bacteria, especially gram-negative bacteria, and is crucial for human health and illness. There is a great…”
Get full text

rs622342A>C in SLC22A1 is associated with metformin pharmacokinetics and glycemic response by Naja, Khaled, El Shamieh, Said, Fakhoury, Rajaa

“…Polymorphisms in SLC22A1 lead to variability in metformin clinical efficacy. Sixty-three Lebanese patients with type 2 diabetes who administered metformin,…”
Get full text

Editorial: The genetics of inherited retinal diseases in understudied ethnic groups: Novel associations, challenges, and perspectives by El Shamieh, Said, Maltese, Paolo Enrico

Get full text

The genetics of rod-cone dystrophy in Arab countries: a systematic review by Jaffal, Lama, Joumaa, Hawraa, Mrad, Zamzam, Zeitz, Christina, Audo, Isabelle, El Shamieh, Said

“…Since a substantial difference in the prevalence of genetic causes of rod-cone dystrophy (RCD) was found among different populations, we conducted a systematic…”
Get full text