Advanced Reading
This a is a backwards list of my reading plan. Most of these have a steep learning curve of scientific jargon, but when reading just the Conclusion or Discussion sections they are frequently understandable to most people. I will make quick notes on these items as I read them and intend to create a Must Read! page for the best of them. I welcome anyone who wants to read and comment on any of these to do so on my blog page.
Hereditary Hemochromatosis: Gastrointestinal Features
M Qureshi, F Forouhar - Atlas of Dermatological Manifestations of …, 2013
Abstract Hemochromatosis is a disease defined by iron overload. Hereditary
hemochromatosis is an autosomal recessive disease with a prevalence of 2 per 1,000 in
those of European ancestry. It most commonly presents with liver disease but can also ...
A Mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice
W Nandar, EB Neely, E Unger, JR Connor - … Acta (BBA)-Molecular Basis of Disease, 2013
... The C282Y HFE, generally associated with hereditary hemochromatosis (HH), is relatively rare
(1.9%) while the H63D HFE (8.1%) is more common in the general population [3] and [4]. Although
the penetrance of H63D HFE for HH is lower than the C282Y HFE, the H63D HFE ...
Iron Overload Favors the Elimination of Leishmania infantum from Mouse Tissues through Interaction with Reactive Oxygen and Nitrogen Species
S Vale-Costa, S Gomes-Pereira, CM Teixeira, G Rosa… - PLOS Neglected Tropical …, 2013
... To assess the relevance of the cellular location of iron deposition at the time of infection, we
used HFE-deficient mice which are used as a model of human hemochromatosis and accumulate
iron in parenchymal cells rather than inside macrophages [28], [29]. ...
The official Journal of The Palestinian Medical Technology Association (PMTA) Al-Mijhar: It's the official periodic journal for laboratory medicine in Palestine issued by …J Robens
... Conversely, mutations disrupting hepcidin production have been shown to cause
hereditary hemochromatosis, a result of uninhibited iron absorption. ... These affect the
expression of hepcidin, leading to clinical hemochromatosis. ...
Modification by hemochromatosis gene polymorphisms of the association between trafficrelated air pollution and cognition in older men: a cohort study
MC Power, MG Weisskopf, SE Alexeeff, RO Wright… - Environmental Health, 2013
Background Previous studies found effect modification of associations between traffic-
related air pollution and cardiovascular outcomes by polymorphisms in the
hemochromatosis gene (HFE). As traffic-related air pollution may impact cognition through ...
Erosive and inflammatory joint changes in hereditary hemochromatosis arthropathy detected by low-field magnetic resonance imaging.
K Frenzen, C Schäfer, G Keyßer - Rheumatology international, 2013
The aim of the article is to describe and characterize the hemochromatosis arthropathy of the
hand by low-field MRI in symptomatic and asymptomatic patients. Forty-nine patients with
hereditary hemochromatosis (37 with and twelve without arthropathy) were examined ...
Inhibiting the hepcidin inhibitor for treatment of iron overload
L Silvestri - Blood, 2013
... secondary iron overload. 1. In genetic hemochromatosis and in β-thalassemia, iron
overload is the primary cause of liver cirrhosis, diabetes, heart failure, and other clinical
complications, including liver cancer. In both conditions ...
insideblood®R Handgretinger - BLOOD, 2013
... In genetic hemochromatosis and in β-thalassemia, iron overload is the primary cause of liver
cirrhosis, diabetes, heart failure, and other clinical complications, including liver cancer. ... Tmprss6
is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. Blood. ...
Roundtable on Genetic Diagnostic Testing
M Auditorium, VA Alexandria, R Cook, MD Deegan… - 2013
... When they are licensed in ways that do not defend a service monopoly (eg, colorectal cancer,
Huntington's disease, cystic fibrosis, hemochromatosis after an initial blip), the patents seem
to have generated modest revenues for the owners while not impeding widespread ...
Association Between Celiac Disease and Iron Deficiency in Caucasians, but not Non-Caucasians
JA Murray, S McLachlan, PC Adams, JH Eckfeldt… - Clinical Gastroenterology …, 2013
... Caucasians. We analyzed samples collected from participants in the Hemochromatosis
and Iron Overload Screening (HEIRS) study to identify individuals with iron deficiency
and assess the frequency of celiac disease. Methods. We ...
Cytoplasmic iron deposition is associated with the expression of oxidative DNA damage marker in meningiomas
M Nagaishi, H Yokoo, T Osawa, S Nobusawa… - Neuropathology, 2013
... Deposited iron mediates free radical production that causes tissue injury through Fenton reactions,
resulting in the pathology of iron overload diseases like hemochromatosis.[6] By systematically
reviewing relevant literature, we found that iron-containing cells in meningiomas ...
The Statin–Iron Nexus: Anti-Inflammatory Intervention for Arterial Disease Prevention
LR Zacharski, RG DePalma, G Shamayeva, BK Chow - American Journal of Public …, 2013
Page 1. The Statin–Iron Nexus: Anti-Inflammatory Intervention for Arterial Disease
Prevention Leo R. Zacharski, MD, Ralph G. DePalma, MD, Galina Shamayeva, MS,
and Bruce K. Chow, MS Statins, prescribed widely for primary ...
Two copies of isochromosome 5p in refractory cytopenia with multilineage dysplasia: A case report
C Giudici, R Lingeri, C Patriarca, A Cavallero… - Leukemia Research …, 2013
... of smallsize. On account of abnormal liver and iron metabolism parameters, molecular
analysis of HFE gene was performed, resulting in diagnosis of hereditary
hemochromatosis (compound heterozygote H63D/C282Y). In June ...
Hemochromatosis (HFE) gene mutations and risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) study
A Agudo, C Bonet, N Sala, X Muñoz, N Aranda… - Carcinogenesis, 2013
Abstract Hereditary hemochromatosis (HH) is a strong risk factor for hepatocellular cancer,
and mutations in the HFE gene associated with HH and iron overload may be related to
other tumors, but no studies have been reported for gastric cancer (GC). A nested case- ...
Dietary iron restriction inhibits progression of diabetic nephropathy in db/db mice
Y Ikeda, H Enomoto, S Tajima, Y Izawa-Ishizawa… - American Journal of …, 2013
... Physiologically, the dual nature of 55 iron is like a double-edged sword. 56 Several iron overload
diseases, including hereditary hemochromatosis or thalassemia, 57 demonstrate ectopic iron
accumulation with consequent complications of iron-related organ 58 ...
Hereditary Hemochromatosis: Gastrointestinal Features
M Qureshi, F Forouhar - Atlas of Dermatological Manifestations of …, 2013
Abstract Hemochromatosis is a disease defined by iron overload. Hereditary
hemochromatosis is an autosomal recessive disease with a prevalence of 2 per 1,000 in
those of European ancestry. It most commonly presents with liver disease but can also ...
A Mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice
W Nandar, EB Neely, E Unger, JR Connor - … Acta (BBA)-Molecular Basis of Disease, 2013
... The C282Y HFE, generally associated with hereditary hemochromatosis (HH), is relatively rare
(1.9%) while the H63D HFE (8.1%) is more common in the general population [3] and [4]. Although
the penetrance of H63D HFE for HH is lower than the C282Y HFE, the H63D HFE ...
Iron Overload Favors the Elimination of Leishmania infantum from Mouse Tissues through Interaction with Reactive Oxygen and Nitrogen Species
S Vale-Costa, S Gomes-Pereira, CM Teixeira, G Rosa… - PLOS Neglected Tropical …, 2013
... To assess the relevance of the cellular location of iron deposition at the time of infection, we
used HFE-deficient mice which are used as a model of human hemochromatosis and accumulate
iron in parenchymal cells rather than inside macrophages [28], [29]. ...
The official Journal of The Palestinian Medical Technology Association (PMTA) Al-Mijhar: It's the official periodic journal for laboratory medicine in Palestine issued by …J Robens
... Conversely, mutations disrupting hepcidin production have been shown to cause
hereditary hemochromatosis, a result of uninhibited iron absorption. ... These affect the
expression of hepcidin, leading to clinical hemochromatosis. ...
Modification by hemochromatosis gene polymorphisms of the association between trafficrelated air pollution and cognition in older men: a cohort study
MC Power, MG Weisskopf, SE Alexeeff, RO Wright… - Environmental Health, 2013
Background Previous studies found effect modification of associations between traffic-
related air pollution and cardiovascular outcomes by polymorphisms in the
hemochromatosis gene (HFE). As traffic-related air pollution may impact cognition through ...
Erosive and inflammatory joint changes in hereditary hemochromatosis arthropathy detected by low-field magnetic resonance imaging.
K Frenzen, C Schäfer, G Keyßer - Rheumatology international, 2013
The aim of the article is to describe and characterize the hemochromatosis arthropathy of the
hand by low-field MRI in symptomatic and asymptomatic patients. Forty-nine patients with
hereditary hemochromatosis (37 with and twelve without arthropathy) were examined ...
Inhibiting the hepcidin inhibitor for treatment of iron overload
L Silvestri - Blood, 2013
... secondary iron overload. 1. In genetic hemochromatosis and in β-thalassemia, iron
overload is the primary cause of liver cirrhosis, diabetes, heart failure, and other clinical
complications, including liver cancer. In both conditions ...
insideblood®R Handgretinger - BLOOD, 2013
... In genetic hemochromatosis and in β-thalassemia, iron overload is the primary cause of liver
cirrhosis, diabetes, heart failure, and other clinical complications, including liver cancer. ... Tmprss6
is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. Blood. ...
Roundtable on Genetic Diagnostic Testing
M Auditorium, VA Alexandria, R Cook, MD Deegan… - 2013
... When they are licensed in ways that do not defend a service monopoly (eg, colorectal cancer,
Huntington's disease, cystic fibrosis, hemochromatosis after an initial blip), the patents seem
to have generated modest revenues for the owners while not impeding widespread ...
Association Between Celiac Disease and Iron Deficiency in Caucasians, but not Non-Caucasians
JA Murray, S McLachlan, PC Adams, JH Eckfeldt… - Clinical Gastroenterology …, 2013
... Caucasians. We analyzed samples collected from participants in the Hemochromatosis
and Iron Overload Screening (HEIRS) study to identify individuals with iron deficiency
and assess the frequency of celiac disease. Methods. We ...
Cytoplasmic iron deposition is associated with the expression of oxidative DNA damage marker in meningiomas
M Nagaishi, H Yokoo, T Osawa, S Nobusawa… - Neuropathology, 2013
... Deposited iron mediates free radical production that causes tissue injury through Fenton reactions,
resulting in the pathology of iron overload diseases like hemochromatosis.[6] By systematically
reviewing relevant literature, we found that iron-containing cells in meningiomas ...
The Statin–Iron Nexus: Anti-Inflammatory Intervention for Arterial Disease Prevention
LR Zacharski, RG DePalma, G Shamayeva, BK Chow - American Journal of Public …, 2013
Page 1. The Statin–Iron Nexus: Anti-Inflammatory Intervention for Arterial Disease
Prevention Leo R. Zacharski, MD, Ralph G. DePalma, MD, Galina Shamayeva, MS,
and Bruce K. Chow, MS Statins, prescribed widely for primary ...
Two copies of isochromosome 5p in refractory cytopenia with multilineage dysplasia: A case report
C Giudici, R Lingeri, C Patriarca, A Cavallero… - Leukemia Research …, 2013
... of smallsize. On account of abnormal liver and iron metabolism parameters, molecular
analysis of HFE gene was performed, resulting in diagnosis of hereditary
hemochromatosis (compound heterozygote H63D/C282Y). In June ...
Hemochromatosis (HFE) gene mutations and risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) study
A Agudo, C Bonet, N Sala, X Muñoz, N Aranda… - Carcinogenesis, 2013
Abstract Hereditary hemochromatosis (HH) is a strong risk factor for hepatocellular cancer,
and mutations in the HFE gene associated with HH and iron overload may be related to
other tumors, but no studies have been reported for gastric cancer (GC). A nested case- ...
Dietary iron restriction inhibits progression of diabetic nephropathy in db/db mice
Y Ikeda, H Enomoto, S Tajima, Y Izawa-Ishizawa… - American Journal of …, 2013
... Physiologically, the dual nature of 55 iron is like a double-edged sword. 56 Several iron overload
diseases, including hereditary hemochromatosis or thalassemia, 57 demonstrate ectopic iron
accumulation with consequent complications of iron-related organ 58 ...