Search Results - "Amir, Ruthie"

Rett syndrome is caused by mutations in X-linked MECP2 , encoding methyl-CpG-binding protein 2 by Zoghbi, Huda Y, Amir, Ruthie E, Van den Veyver, Ignatia B, Wan, Mimi, Tran, Charles Q, Francke, Uta

“…Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation in females, with an…”
Get full text

Mechanism of processing of the NF-kappa B2 p100 precursor: identification of the specific polyubiquitin chain-anchoring lysine residue and analysis of the role of NEDD8-modification on the SCF(beta-TrCP) ubiquitin ligase by Amir, Ruthie E, Haecker, Hans, Karin, Michael, Ciechanover, Aaron

“…Processing of the NF-kappa B2 precursor p100 to the mature p52 subunit is regulated via a unique pathway. NF-kappa B-inducing kinase (NIK) induces I kappa B…”
Get full text

ACE ID genotype affects blood creatine kinase response to eccentric exercise by Yamin, Chen, Amir, Offer, Sagiv, Moran, Attias, Eric, Meckel, Yoav, Eynon, Nir, Sagiv, Michael, Amir, Ruthie E

“…1 Department of Genetics and Molecular Biology, the Zinman College of Physical Education and Sport Sciences at the Wingate Institute, Netanya; and 2 Department…”
Get full text

The ACE deletion allele is associated with Israeli elite endurance athletes by Amir, Offer, Amir, Ruthie, Yamin, Chen, Attias, Eric, Eynon, Nir, Sagiv, Moran, Sagiv, Michael, Meckel, Yoav

“…An Alu insertion ( I )/deletion ( D ) polymorphism in the angiotensin I converting enzyme ( ACE ) gene has been associated with ACE activity. Opposing effects…”
Get full text

Aldosterone Synthase Gene Polymorphism as a Determinant of Atrial Fibrillation in Patients With Heart Failure by Amir, Offer, MD, Amir, Ruthie E., MD, Paz, Hagar, RN, Mor, Roi, BSc, Sagiv, Michael, PhD, Lewis, Basil S., MD

“…We analyzed the possible association between aldosterone synthase ( CYP11B2 ) T-344C polymorphism, which is associated with increased aldosterone activity, and…”
Get full text

New and Advanced Picosecond Lasers for Tattoo Removal by Adatto, Maurice A, Amir, Ruthie, Bhawalkar, Jayant, Sierra, Rafael, Bankowski, Richard, Rozen, Doran, Dierickx, Christine, Lapidoth, Moshe

“…Early methods of tattoo removal ultimately resulted in unacceptable cosmetic outcomes. While the introduction of laser technology was an improvement over the…”
Get more information

The NEDD8 pathway is essential for SCF(beta -TrCP)-mediated ubiquitination and processing of the NF-kappa B precursor p105 by Amir, Ruthie E, Iwai, Kazuhiro, Ciechanover, Aaron

“…The p50 subunit of NF-kappaB is generated by limited processing of the precursor p105. IkappaB kinase-mediated phosphorylation of the C-terminal domain of p105…”
Get full text

IL6 (-174) and TNFA (-308) promoter polymorphisms are associated with systemic creatine kinase response to eccentric exercise by Yamin, Chen, Duarte, José Alberto Ramos, Oliveira, José Manuel Fernandes, Amir, Offer, Sagiv, Moran, Eynon, Nir, Sagiv, Michael, Amir, Ruthie E.

“…Exertional rhabdomyolysis is a complex and poorly understood entity. The inflammatory system has an important role in muscle injury and repair. Serum creatine…”
Get full text

Serum Oxidative Stress Level Correlates with Clinical Parameters in Chronic Systolic Heart Failure Patients by Amir, Offer, Paz, Hagar, Rogowski, Ori, Barshai, Marina, Sagiv, Moran, Shnizer, Sergei, Reznick, Abraham Z., Amir, Ruthie E.

“…Background Serum oxidative stress (OS) level has an important role in the inflammatory process of heart failure. Hypothesis The study was designed to analyze…”
Get full text

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms by Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y., Roa, Benjamin B.

“…Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1/10,000–15,000 girls. The disease-causing gene was identified as MECP2 on…”
Get full text

The response of circulating brain natriuretic peptide to academic stress in college students by Amir, Offer, Sagiv, Moran, Eynon, Nir, Yamin, Chen, Rogowski, Ori, Gerzy, Yishay, Amir, Ruthie E

“…Brain natriuretic peptide (BNP), a cardiac peptide, has been implicated in the regulation of hypothalamic-pituitary-adrenocortical (HPA) responses to…”
Get more information

Relation between AT1R gene polymorphism and long-term outcome in patients with heart failure by Amir, Offer, Amir, Ruthie E, Paz, Hagar, Attias, Eric, Sagiv, Michael, Lewis, Basil S

“…Angiotensin II plays a key role in the pathophysiology of heart failure (HF). This study examined the angiotensin II type 1 receptor (AT1R) polymorphism in…”
Get more information

Genotype-phenotype associations between chymase and angiotensin—converting enzyme gene polymorphisms in chronic systolic heart failure patients by Amir, Ruthie E., Amir, Offer, Paz, Hagar, Sagiv, Moran, Mor, Roi, Sagiv, Michael, Lewis, Basil S.

“…Angiotensin II, which plays a crucial role in the myocardial remodeling process of heart failure, is generated via the angiotensin-converting enzyme and…”
Get full text

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes by Amir, Ruthie E., Van Den Veyver, Ignatia B., Schultz, Rebecca, Malicki, Denise M., Tran, Charles Q., Dahle, E. J., Philippi, Anne, Timar, László, Percy, Alan K., Motil, Kathleen J., Lichtarge, Olivier, O'Brian Smith, E., Glaze, Daniel G., Zoghbi, Huda Y.

“…We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome…”
Get full text

What Maintains the Metabolic Cost at Maximal Exercise in Heart Transplant Recipients and Coronary Artery Disease Patients? by Sagiv, Moran, MPE, Goldhammer, Ehud, MD, Ben-Sira, David, PhD, Amir, Ruthie, MD

“…Background In this study we assess the influence of disease status on hemodynamic and cardiac output values, as measured by oxygen utilization at peak aerobic…”
Get full text

Newborn Screening and Prenatal Diagnosis for Rett Syndrome: Implications for Therapy by Amir, Ruthie E., Sutton, V. Reid, Van den Veyver, Ignatia B.

“…Most girls with Rett syndrome develop normally prior to the appearance of the typical symptoms. A presymptomatic phase is also observed in many inborn errors…”
Get full text

Prevalence of Chymase and Angiotensin – Converting Enzyme Gene Polymorphisms and Relation to Clinical Findings in Patients with Heart Failure by Amir, Ruthie E, Amir, Offer, Paz, Hagar, Sagiv, Moran, Ammar, Ronny, Wolff, Rafael, Yaniv, Nissan, Sagiv, Michael, Lewis, Basil S

Get full text

AT1R Polymorphism Is Associated with Increased Mortality in Chronic Systolic Heart Failure Patients by Amir, Offer, Amir, Ruthie E, Paz, Hagar, Sagiv, Moran, Amar, Ronny, Wolff, Rafael, Yaniv, Nissan, Sagiv, Michael, Lewis, Basil S

Get full text

Baseline Characteristics of Participants in RESET: a Trial of a Biodegradable Device for Weight Loss by Ard, Jamy, Ryan, Donna, O'Neil, Patrick, Kushner, Robert, Greenway, Frank, Bays, Harold, Wyatt, Holly, Jakicic, John, Vega, Damaris, Kenan, Yael, Amir, Ruthie, Johansen, Odd Erik, Wadden, Thomas

Get full text

Effects of a Biodegradable Device on Satiety, Snacking, and Meal-size in People with BMI 27-40 kg/m2 by Shirin, Haim, Neeland, Ian, Ryan, Donna, Roman, Daniel de Luis, Lecube, Albert, Magos, Zoltan, Kenan, Yael, Amir, Ruthie, Johansen, Odd Erik

“…Background: The Epitomee Capsule (EC) is a novel oral self-use biodegradable device for weight management composed of absorbent polymers and bonding materials…”
Get full text