نتایج جستجو برای: fh

تعداد نتایج: 3804  

Journal: :Journal of medical genetics 2003
A Cenarro M Artieda S Castillo P Mozas G Reyes D Tejedor R Alonso P Mata M Pocoví F Civeira

Familial hypercholesterolaemia (FH) is a common autosomal codominant hereditary disease caused by defects in the LDL receptor (LDLR) gene, and one of the most common characteristics of affected subjects is premature coronary heart disease (CHD). In heterozygous FH patients, the clinical expression of FH is highly variable in terms of the severity of hypercholesterolaemia and the age of onset an...

2017
Rafael Escate Teresa Padro Maria Borrell‐Pages Rosa Suades Rosa Aledo Pedro Mata Lina Badimon

Familial hypercholesterolaemia (FH) is a major risk for premature coronary heart disease due to severe long-life exposure to high LDL levels. Accumulation of LDL in the vascular wall triggers atherosclerosis with activation of the innate immunity system. Here, we have investigated (i) gene expression of LDLR and LRPs in peripheral blood cells (PBLs) and in differentiated macrophages of young FH...

Journal: :Arteriosclerosis, thrombosis, and vascular biology 2016
Leopoldo Pérez de Isla Rodrigo Alonso Nelva Mata Adriana Saltijeral Ovidio Muñiz Patricia Rubio-Marin José L Diaz-Diaz Francisco Fuentes Raimundo de Andrés Daniel Zambón Jesús Galiana Mar Piedecausa Rocio Aguado Daniel Mosquera José I Vidal Enrique Ruiz Laura Manjón Marta Mauri Teresa Padró José P Miramontes Pedro Mata

OBJECTIVE Heterozygous familial hypercholesterolemia (FH) is the most common premature atherosclerotic cardiovascular disease (ASCVD)-related monogenic disorder, and it is associated with ischemic heart disease. There is limited information whether FH increases the risk of peripheral arterial and cerebrovascular disease. Our aim was to analyze ASCVD prevalence and characteristics in different a...

Journal: :Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2011
Antonio Carroccio Ignazio Brusca Pasquale Mansueto Maurizio Soresi Alberto D'Alcamo Giuseppe Ambrosiano Ilenia Pepe Giuseppe Iacono Maria Letizia Lospalluti Stella M La Chiusa Gaetana Di Fede

BACKGROUND & AIMS Some patients with irritable bowel syndrome (IBS)-like symptoms suffer from food hypersensitivity (FH); their symptoms improve when they are placed on elimination diets. No assays identify patients with FH with satisfactory levels of sensitivity. We determined the frequency of FH among patients with symptoms of IBS and the ability of fecal assays for tryptase, eosinophil catio...

Journal: :The Biochemical journal 2012
Sanaullah Khan Ruodan Nan Jayesh Gor Barbara Mulloy Stephen J Perkins

FH (Factor H) with 20 SCR (short complement regulator) domains is a major serum regulator of complement, and genetic defects in this are associated with inflammatory diseases. Heparan sulfate is a cell-surface glycosaminoglycan composed of sulfated S-domains and unsulfated NA-domains. To elucidate the molecular mechanism of binding of FH to glycosaminoglycans, we performed ultracentrifugation, ...

2015
Andrew P. Herbert Elisavet Makou Zhuo A. Chen Heather Kerr Anna Richards Juri Rappsilber Paul N. Barlow

In an attempt to evade annihilation by the vertebrate complement system, many microbes capture factor H (FH), the key soluble complement-regulating protein in human plasma. However, FH is normally an active complement suppressor exclusively on self-surfaces and this selective action of FH is pivotal to self versus non-self discrimination by the complement system. We investigated whether the bac...

Journal: :Human molecular genetics 2014
Luis Jaime Castro-Vega Alexandre Buffet Aguirre A De Cubas Alberto Cascón Mélanie Menara Emmanuel Khalifa Laurence Amar Sharona Azriel Isabelle Bourdeau Olivier Chabre Maria Currás-Freixes Valérie Franco-Vidal Marine Guillaud-Bataille Christophe Simian Aurélie Morin Rocío Letón Alvaro Gómez-Graña Patrick J Pollard Pierre Rustin Mercedes Robledo Judith Favier Anne-Paule Gimenez-Roqueplo

Malignant pheochromocytoma (PCC) and paraganglioma (PGL) are mostly caused by germline mutations of SDHB, encoding a subunit of succinate dehydrogenase. Using whole-exome sequencing, we recently identified a mutation in the FH gene encoding fumarate hydratase, in a PCC with an 'SDH-like' molecular phenotype. Here, we investigated the role of FH in PCC/PGL predisposition, by screening for germli...

Journal: :Infection and immunity 2011
Kate L Seib Brunella Brunelli Barbara Brogioni Emmanuelle Palumbo Stefania Bambini Alessandro Muzzi Federica DiMarcello Sara Marchi Arie van der Ende Beatrice Aricó Silvana Savino Maria Scarselli Maurizio Comanducci Rino Rappuoli Marzia M Giuliani Mariagrazia Pizza

Neisseria meningitidis is a commensal of the human nasopharynx but is also a major cause of septicemia and meningitis. The meningococcal factor H binding protein (fHbp) binds human factor H (fH), enabling downregulation of complement activation on the bacterial surface. fHbp is a component of two serogroup B meningococcal vaccines currently in clinical development. Here we characterize 12 fHbp ...

Journal: :Infection and immunity 2001
S Dave A Brooks-Walter M K Pangburn L S McDaniel

PspC was found to bind human complement factor H (FH) by Western blot analysis of D39 (pspC(+)) and an isogenic mutant TRE108 (pspC). We confirmed that PspA does not bind FH, while purified PspC binds FH very strongly. The binding of FH to exponentially growing pneumococci varied among different isolates when analyzed by fluorescence activated cell sorting analysis.

Introduction: Many of the diseases of adulthood are originated from the intrauterine conditions during fetal life. Because of the importance of thyroid hormones in growth and development of the fetus, the effects of maternal hypothyroidism on carbohydrate metabolism in adulthood was investigated. Methods: Pregnant rats were divided into the fetal hypothyroidism (FH) and the control (C) group...

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