نتایج جستجو برای: ژن pah

تعداد نتایج: 23292  

Journal: :Angewandte Chemie 2021

Cationic BN-embedded polycyclic aromatic hydrocarbons (BN-PAH+s) were synthesized from a nitrogen-containing macrocycle via pyridine-directed tandem C?H borylation. Incorporating BN into PAH+ resulted in remarkable hypsochromic shift due to an increase the LUMO energy and symmetry changes of HOMO LUMO. Electrophilic substitution or anion exchange BN-PAH+ possessing tetrabromoborate as counter (...

2012
Kevin White Anne Katrine Johansen Margaret Nilsen Loredana Ciuclan Annabel Campbell Lynn Loughlin John D. McClure Kirsty M. Mair Margaret R. MacLean

Background—Pulmonary arterial hypertension (PAH) is a hyperproliferative vascular disorder observed predominantly in women. Estrogen is a potent mitogen in human pulmonary artery smooth muscle cells and contributes to PAH in vivo; however, the mechanisms attributed to this causation remain obscure. Curiously, heightened expression of the estrogenmetabolizing enzyme cytochrome P450 1B1 (CYP1B1) ...

ژورنال: :genetics in the 3rd millennium 0
صادق ولیان بروجنی sadegh vallian الهام ابراهیمی elham ebrahimi

مارکرهای ژنتیک با تکرار متغیر (vntr) متصل به ژن ها با پلی مورفیسم بالا ابزار مفیدی جهت بررسی پیوستگی ژن های جهش یافته در بیماری های ژنتیکی هستند. وجود vntr وابسته به ژن فنیل آلانین هیدروکسیلاز (pah) در بررسی ناقلان بیماری فنیل کتونوری (pku) اهمیت ویژه ای دارد. کاربرد مارکر مزبور به میزان هتروزیگوسیتی آن در جمعیت بستگی دارد که لازم است در هر جمعیتی بررسی شود. در این مطالعه ضمن تعیین فراوانی آللی...

Journal: :Heart & lung : the journal of critical care 2014
Santo Dellegrottaglie Ana García-Alvarez Pasquale Guarini Pasquale Perrone-Filardi Valentin Fuster Javier Sanz

OBJECTIVES To evaluate the occurrence of ventricular systolic dysfunction in human immunodeficiency virus (HIV)-related pulmonary arterial hypertension (PAH). BACKGROUND Patients with HIV-related PAH may develop ventricular systolic dysfunction both as a consequence of PAH progression or of the myocardial involvement from the HIV infection itself. METHODS Cardiac magnetic resonance imaging ...

2012
Li Zhang Yi Jin Meng Huang Trevor M. Penning

Polycyclic aromatic hydrocarbons (PAH) are ubiquitous environmental pollutants. They are procarcinogens requiring metabolic activation to elicit their deleterious effects. Aldo-keto reductases (AKR) catalyze the oxidation of proximate carcinogenic PAH trans-dihydrodiols to yield electrophilic and redox-active PAH o-quinones. AKRs are also found to be capable of reducing PAH o-quinones to form P...

Journal: :iranian red crescent medical journal 0
ziba soltani genomic research center, shahid beheshti university of medical sciences, tehran, ir iran fatemeh karami department of medical genetics, school of medicine, tehran university of medical sciences, tehran, ir iran vahidreza yassaee genomic research center, shahid beheshti university of medical sciences, tehran, ir iran feyzollah hashemi gorji genomic research center, shahid beheshti university of medical sciences, tehran, ir iran mahdieh talebzadeh genomic research center, shahid beheshti university of medical sciences, tehran, ir iran mohammad miryounesi genomic research center, shahid beheshti university of medical sciences, tehran, ir iran; genomic research center, shahid beheshti university of medical sciences, tehran, ir iran. tel: +98-2122439959, fax: +98-2122439961

conclusions this finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with pku. introduction phenylketonuria (pku) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (pah) gene. most of the pah mutations are missense mutations (67%), which are followed by sma...

Journal: :The Biochemical journal 1990
F D Ledley H E Grenett B S Dunbar S L Woo

The laboratory mouse represents an important model for the study of phenylalanine metabolism and the pathochemistry of phenylketonuria, yet mouse phenylalanine hydroxylase (PAH) has not been extensively studied. We report the cloning and sequencing of a mouse PAH cDNA, the expression of enzymic activity from the mouse PAH cDNA clone and the identification of mouse PAH and human PAH by two-dimen...

Journal: :Circulation 2015
Anna R Hemnes Aaron W Trammell Stephen L Archer Stuart Rich Chang Yu Hui Nian Niki Penner Mitchell Funke Lisa Wheeler Ivan M Robbins Eric D Austin John H Newman James West

BACKGROUND Heterogeneity in response to treatment of pulmonary arterial hypertension (PAH) is a major challenge to improving outcome in this disease. Although vasodilator-responsive PAH (VR-PAH) accounts for a minority of cases, VR-PAH has a pronounced response to calcium channel blockers and better survival than vasodilator-nonresponsive PAH (VN-PAH). We hypothesized that VR-PAH has a differen...

2014
Ariane Bischoff Michael Bucher Michael Gekle Christoph Sauvant

Determination of renal plasma flow (RPF) by para-aminohippurate (PAH) clearance leads to gross underestimation of this respective parameter due to impaired renal extraction of PAH after renal ischemia and reperfusion injury. However, no mechanistic explanation for this phenomenon is available. Based on our own previous studies we hypothesized that this may be due to impairment of expression of ...

2014
Shengnan Zhang Kenneth M. Roberts Paul F. Fitzpatrick

Analytical ultracentrifugation has been used to analyze the oligomeric structure of the isolated regulatory domain of phenylalanine hydroxylase. The protein exhibits a monomer-dimer equilibrium with a dissociation constant of ~46 μM; this value is unaffected by the removal of the 24 N-terminal residues or by phosphorylation of Ser16. In contrast, phenylalanine binding (Kd = 8 μM) stabilizes the...

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