نتایج جستجو برای: موتاسیون hfe

تعداد نتایج: 2354  

Journal: :American journal of physiology. Gastrointestinal and liver physiology 2006
Marco Constante Wenlei Jiang Dongmei Wang Valérie-Ann Raymond Marc Bilodeau Manuela M Santos

Hepcidin is a negative regulator of iron absorption produced mainly by the liver in response to changes in iron stores and inflammation, and its levels have been shown to regulate the intestinal basolateral iron transporter ferroportin1 (Fp1). Hereditary hemochromatosis patients and Hfe-deficient mice show inappropriate expression of hepcidin but, in apparent contradiction, still retain the abi...

2016
Antony P. McNamee Surendran Sabapathy Indu Singh Jarod Horobin Janelle Guerrero Michael J. Simmonds Philippe Connes

INTRODUCTION Given the severity of the current imbalance between blood donor supply and recipient demand, discarded blood drawn from the routine venesections of haemochromatosis (HFE-HH) patients may serve as a valuable alternative source for blood banks and transfusion. We investigated whether functional or biochemical differences existed between HFE-HH and control blood samples, with particul...

2007
Florence T. Wang Howard Hu Joel Schwartz Jennifer Weuve Avron S. Spiro David Sparrow Huiling Nie Edwin K. Silverman Scott T. Weiss Robert O. Wright

BACKGROUND As iron and lead promote oxidative damage, and hemochromatosis (HFE) gene polymorphisms increase body iron burden, HFE variant alleles may modify the lead burden and cognitive decline relationship. OBJECTIVE Our goal was to assess the modifying effects of HFE variants on the lead burden and cognitive decline relation in older adults. METHODS We measured tibia and patella lead usi...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1999
S Bahram S Gilfillan L C Kühn R Moret J B Schulze A Lebeau K Schümann

The puzzling linkage between genetic hemochromatosis and histocompatibility loci became even more so when the gene involved, HFE, was identified. Indeed, within the well defined, mainly peptide-binding, MHC class I family of molecules, HFE seems to perform an unusual yet essential function. As yet, our understanding of HFE function in iron homeostasis is only partial; an even more open question...

2011
Birgit Claus Henn Jonghan Kim Marianne Wessling-Resnick Martha María Téllez-Rojo Innocent Jayawardene Adrienne S Ettinger Mauricio Hernández-Avila Joel Schwartz David C Christiani Howard Hu Robert O Wright

BACKGROUND Given mounting evidence for adverse effects from excess manganese exposure, it is critical to understand host factors, such as genetics, that affect manganese metabolism. METHODS Archived blood samples, collected from 332 Mexican women at delivery, were analyzed for manganese. We evaluated associations of manganese with functional variants in three candidate iron metabolism genes: ...

Journal: :IACR Cryptology ePrint Archive 2011
Jintai Ding Thorsten Kleinjung

In this paper, we prove a closed formula for the degree of regularity of the family of HFE(HFE Minus) multivariate public key cryptosystems over a finite field of size q. The degree of regularity of the polynomial system derived from an HFEsystem is less than or equal to (q − 1)(blogq(D − 1)c+ a) 2 + 2 if q is even and r + a is odd, (q − 1)(blogq(D − 1)c+ a + 1) 2 + 2 otherwise. Here q is the b...

2017
Alexandre Reuben Jacqueline W. Chung Réjean Lapointe Manuela M. Santos

INTRODUCTION Since its discovery, the hemochromatosis protein HFE has been primarily defined by its role in iron metabolism and homeostasis, and its involvement in the genetic disease termed hereditary hemochromatosis (HH). While HH patients are typically afflicted by dysregulated iron levels, many are also affected by several immune defects and increased incidence of autoimmune diseases that h...

2013
Fatima Mendonça Jorge Vieira Maria Cristina Nakhle Clarice Pires Abrantes-Lemos Eduardo Luiz Rachid Cançado Vitor Manoel Silva dos Reis

BACKGROUND Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil. OBJECTIVES Investigation of porphyria cutanea tarda ass...

2017
Shiwei Zhang Yi Mu Guomin Yang Xiaofen Wang

In contrast to the conventional all-or-nothing encryption, functional encryption (FE) allows partial revelation of encrypted information based on the keys associated with different functionalities. Extending FE with key delegation ability, hierarchical functional encryption (HFE) enables a secret key holder to delegate a portion of its decryption ability to others and the delegation can be done...

Journal: :The Journal of biological chemistry 2004
Paige S Davies Caroline A Enns

Iron is essential for life in almost all organisms and, in mammals, is absorbed through the villus cells of the duodenum. Using a human colonic carcinoma cell line that has many duodenal characteristics, HT29, we show that genes involved in intestinal iron transport are endogenously expressed. When stably transfected to express the hereditary hemochromatosis protein HFE these cells have increas...

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