HFE H63D gene mutation (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "HFE H63D gene mutation" in English language version.

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Global rank English rank

33nih.gov

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24doi.org

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9semanticscholar.org

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2handle.net

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2researchgate.net

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1mayoclinic.com

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1web.archive.org

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1irondisorders.org

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1archives-ouvertes.fr

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1researchsquare.com

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hal.archives-ouvertes.fr

Hall EC 2nd, Lee SY, Simmons Z, et al. (2010). "Prolyl-peptidyl isomerase, Pin1, phosphorylation is compromised in association with the expression of the HFE polymorphic allele, H63D" (PDF). Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1802 (4): 389–95. doi:10.1016/j.bbadis.2010.01.004. PMID 20060900. S2CID 46729333.

doi.org

Olynyk JK, Trinder D, Ramm GA, Britton RS, Bacon BR (September 2008). "Hereditary hemochromatosis in the post-HFE era". Hepatology. 48 (3): 991–1001. doi:10.1002/hep.22507. PMC 2548289. PMID 18752323.
den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE (June 2016). "HGVS Recommendations for the Description of Sequence Variants: 2016 Update". Human Mutation. 37 (6): 564–9. doi:10.1002/humu.22981. hdl:11343/291098. PMID 26931183.
Fujii H, Takagaki N, Yoh T, et al. (2008). "Non-prescription supplement-induced hepatitis with hyperferritinemia and mutation (H63D) in the HFE gene". Hepatology Research. 38 (3): 319–23. doi:10.1111/j.1872-034X.2007.00266.x. PMID 17944940. S2CID 30008466.
Castiella A, Urreta I, Zapata E, et al. (2019). "H63/H63D genotype and the H63D allele are associated in patients with hyperferritinemia to the development of metabolic syndrome". Eur. J. Intern. Med. (Letter to the Editor). 72: 106–107. doi:10.1016/j.ejim.2019.11.021. PMID 31796245. S2CID 208623301.
Raszeja-Wyszomirska J, Kurzawski G, Zawada I, et al. (2010). "HFE gene mutations in patients with alcoholic liver disease. A prospective study from northwestern Poland". Polish Archives of Internal Medicine. 120 (4): 127–31. doi:10.20452/pamw.905. PMID 20424537.
Valenti L, Fracanzani AL, Bugianesi E, et al. (2010). "HFE Genotype, Parenchymal Iron Accumulation, and Liver Fibrosis in Patients With Nonalcoholic Fatty Liver Disease". Gastroenterology. 138 (3): 905–12. doi:10.1053/j.gastro.2009.11.013. hdl:2318/85426. PMID 19931264. S2CID 13091615.
Ellervik C, Tybjaerg-Hansen A, Appleyard M, et al. (2007). "Hereditary hemochromatosis genotypes and risk of ischemic stroke". Neurology. 68 (13): 1025–31. doi:10.1212/01.wnl.0000257814.77115.d6. PMID 17389307. S2CID 43908712.
Liu Y, Lee SY, Neely E, et al. (2011). "Mutant HFE H63D Protein Is Associated with Prolonged Endoplasmic Reticulum Stress and Increased Neuronal Vulnerability". J. Biol. Chem. 286 (15): 13161–70. doi:10.1074/jbc.M110.170944. PMC 3075663. PMID 21349849.
Mitchell RM, Lee SY, Simmons Z, et al. (2011). "HFE polymorphisms affect cellular glutamate regulation". Neurobiol. Aging. 32 (6): 1114–23. doi:10.1016/j.neurobiolaging.2009.05.016. PMID 19560233. S2CID 22440350.
Nandar W, Connor JR (2011). "HFE Gene Variants Affect Iron in the Brain". J. Nutr. 141 (4): 729S – 739S. doi:10.3945/jn.110.130351. PMID 21346098.
Hall EC 2nd, Lee SY, Simmons Z, et al. (2010). "Prolyl-peptidyl isomerase, Pin1, phosphorylation is compromised in association with the expression of the HFE polymorphic allele, H63D" (PDF). Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1802 (4): 389–95. doi:10.1016/j.bbadis.2010.01.004. PMID 20060900. S2CID 46729333.
Bartzokis G, Lu PH, Tishler TA, et al. (2010). "Prevalent Iron Metabolism Gene Variants Associated with Increased Brain Ferritin Iron in Healthy Older Men". J. Alzheimer's Dis. 20 (1): 333–41. doi:10.3233/JAD-2010-1368. PMC 3119253. PMID 20164577.
Guerreiro RJ, Bras JM, Santana I, et al. (2006). "Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort". BMC Neurology. 6 (24): 24. doi:10.1186/1471-2377-6-24. PMC 1534050. PMID 16824219.
Dekker MC, Giesbergen PC, Njajou OT, et al. (2003). "Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism". Neurosci. Lett. 348 (2): 117–9. doi:10.1016/S0304-3940(03)00713-4. PMID 12902032. S2CID 32076298.
Borie C, Gasparini F, Verpillat P, et al. (2002). "Association study between iron-related genes polymorphisms and Parkinson's disease". J. Neurol. 249 (7): 801–4. doi:10.1007/s00415-002-0704-6. PMID 12140659. S2CID 22293375.
Akbas N, Hochstrasser H, Deplazes J, et al. (2006). "Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra". Neurosci. Lett. 407 (1): 16–9. doi:10.1016/j.neulet.2006.07.070. PMID 16935420. S2CID 45492253.
Zhang QQ, Jiang H, Li CY, Liu YL, Tian XY (September 2020). "H63D CG genotype of HFE is associated with increased risk of sporadic amyotrophic lateral sclerosis in a single population". Journal of Integrative Neuroscience. 19 (3): 495–499. doi:10.31083/j.jin.2020.03.131. PMID 33070529.
Adams PC, Pankow JS, Barton JC, et al. (2009). "HFE C282Y Homozygosity Is Associated With Lower Total and Low-Density Lipoprotein Cholesterol: The Hemochromatosis and Iron Overload Screening Study". Circ. Cardiovasc. Genet. 2 (1): 34–7. doi:10.1161/CIRCGENETICS.108.813089. PMID 20031565.
Franchini M (2006). "Hereditary iron overload: Update on pathophysiology, diagnosis, and treatment". Am. J. Hematol. 81 (3): 202–9. doi:10.1002/ajh.20493. PMID 16493621.
Castiella A, Zapata E, Zubiaurre L, et al. (2015). "Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country". Annals of Hepatology. 14 (3): 333–9. doi:10.1016/S1665-2681(19)31272-4. PMID 25864213.
Jin F, Qu L, Shen X (2010). "Association between C282Y and H63D mutations of the HFE gene with hepatocellular carcinoma in European populations: a meta-analysis". J. Exp. Clin. Cancer Res. 29 (1): 18. doi:10.1186/1756-9966-29-18. PMC 2845109. PMID 20196837.
Machado MV, Ravasco P, Martins A, et al. (2009). "Iron homeostasis and H63D mutations in alcoholics with and without liver disease". World Journal of Gastroenterology. 15 (1): 106–11. doi:10.3748/wjg.15.106. PMC 2653287. PMID 19115475.
Lazar, M., Seideman D., Schuster G., Diamandis, C. (2022). Endocrinology: Patients suffering from H63D syndrome are at high risk to develop clinically relevant endocrine abnormalities affecting their adrenal glands as well as their HPA and SAM axes. https://doi.org/10.5281/zenodo.7269988
Semenova EA, Miyamoto-Mikami E, Akimov EB, Al-Khelaifi F, Murakami H, Zempo H, Kostryukova ES, Kulemin NA, Larin AK, Borisov OV, Miyachi M, Popov DV, Boulygina EA, Takaragawa M, Kumagai H, Naito H, Pushkarev VP, Dyatlov DA, Lekontsev EV, Pushkareva YE, Andryushchenko LB, Elrayess MA, Generozov EV, Fuku N, Ahmetov II (March 2020). "The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis". European Journal of Applied Physiology. 120 (3): 665–673. doi:10.1007/s00421-020-04306-8. PMC 7042188. PMID 31970519.

handle.net

hdl.handle.net

den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE (June 2016). "HGVS Recommendations for the Description of Sequence Variants: 2016 Update". Human Mutation. 37 (6): 564–9. doi:10.1002/humu.22981. hdl:11343/291098. PMID 26931183.
Valenti L, Fracanzani AL, Bugianesi E, et al. (2010). "HFE Genotype, Parenchymal Iron Accumulation, and Liver Fibrosis in Patients With Nonalcoholic Fatty Liver Disease". Gastroenterology. 138 (3): 905–12. doi:10.1053/j.gastro.2009.11.013. hdl:2318/85426. PMID 19931264. S2CID 13091615.

irondisorders.org

"H63D - The Other Mutation" (PDF). Iron Disorders Institute nanograms. 2010. Archived from the original (PDF) on 2018-10-24. Retrieved 2019-12-22.

mayoclinic.com

"Hemochromatosis: Causes". Mayo Foundation for Medical Education and Research (MFMER).

nih.gov

pubmed.ncbi.nlm.nih.gov

Olynyk JK, Trinder D, Ramm GA, Britton RS, Bacon BR (September 2008). "Hereditary hemochromatosis in the post-HFE era". Hepatology. 48 (3): 991–1001. doi:10.1002/hep.22507. PMC 2548289. PMID 18752323.
den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE (June 2016). "HGVS Recommendations for the Description of Sequence Variants: 2016 Update". Human Mutation. 37 (6): 564–9. doi:10.1002/humu.22981. hdl:11343/291098. PMID 26931183.
Fujii H, Takagaki N, Yoh T, et al. (2008). "Non-prescription supplement-induced hepatitis with hyperferritinemia and mutation (H63D) in the HFE gene". Hepatology Research. 38 (3): 319–23. doi:10.1111/j.1872-034X.2007.00266.x. PMID 17944940. S2CID 30008466.
Castiella A, Urreta I, Zapata E, et al. (2019). "H63/H63D genotype and the H63D allele are associated in patients with hyperferritinemia to the development of metabolic syndrome". Eur. J. Intern. Med. (Letter to the Editor). 72: 106–107. doi:10.1016/j.ejim.2019.11.021. PMID 31796245. S2CID 208623301.
Raszeja-Wyszomirska J, Kurzawski G, Zawada I, et al. (2010). "HFE gene mutations in patients with alcoholic liver disease. A prospective study from northwestern Poland". Polish Archives of Internal Medicine. 120 (4): 127–31. doi:10.20452/pamw.905. PMID 20424537.
Valenti L, Fracanzani AL, Bugianesi E, et al. (2010). "HFE Genotype, Parenchymal Iron Accumulation, and Liver Fibrosis in Patients With Nonalcoholic Fatty Liver Disease". Gastroenterology. 138 (3): 905–12. doi:10.1053/j.gastro.2009.11.013. hdl:2318/85426. PMID 19931264. S2CID 13091615.
Ellervik C, Tybjaerg-Hansen A, Appleyard M, et al. (2007). "Hereditary hemochromatosis genotypes and risk of ischemic stroke". Neurology. 68 (13): 1025–31. doi:10.1212/01.wnl.0000257814.77115.d6. PMID 17389307. S2CID 43908712.
Liu Y, Lee SY, Neely E, et al. (2011). "Mutant HFE H63D Protein Is Associated with Prolonged Endoplasmic Reticulum Stress and Increased Neuronal Vulnerability". J. Biol. Chem. 286 (15): 13161–70. doi:10.1074/jbc.M110.170944. PMC 3075663. PMID 21349849.
Mitchell RM, Lee SY, Simmons Z, et al. (2011). "HFE polymorphisms affect cellular glutamate regulation". Neurobiol. Aging. 32 (6): 1114–23. doi:10.1016/j.neurobiolaging.2009.05.016. PMID 19560233. S2CID 22440350.
Nandar W, Connor JR (2011). "HFE Gene Variants Affect Iron in the Brain". J. Nutr. 141 (4): 729S – 739S. doi:10.3945/jn.110.130351. PMID 21346098.
Hall EC 2nd, Lee SY, Simmons Z, et al. (2010). "Prolyl-peptidyl isomerase, Pin1, phosphorylation is compromised in association with the expression of the HFE polymorphic allele, H63D" (PDF). Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1802 (4): 389–95. doi:10.1016/j.bbadis.2010.01.004. PMID 20060900. S2CID 46729333.
Bartzokis G, Lu PH, Tishler TA, et al. (2010). "Prevalent Iron Metabolism Gene Variants Associated with Increased Brain Ferritin Iron in Healthy Older Men". J. Alzheimer's Dis. 20 (1): 333–41. doi:10.3233/JAD-2010-1368. PMC 3119253. PMID 20164577.
Guerreiro RJ, Bras JM, Santana I, et al. (2006). "Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort". BMC Neurology. 6 (24): 24. doi:10.1186/1471-2377-6-24. PMC 1534050. PMID 16824219.
Dekker MC, Giesbergen PC, Njajou OT, et al. (2003). "Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism". Neurosci. Lett. 348 (2): 117–9. doi:10.1016/S0304-3940(03)00713-4. PMID 12902032. S2CID 32076298.
Borie C, Gasparini F, Verpillat P, et al. (2002). "Association study between iron-related genes polymorphisms and Parkinson's disease". J. Neurol. 249 (7): 801–4. doi:10.1007/s00415-002-0704-6. PMID 12140659. S2CID 22293375.
Akbas N, Hochstrasser H, Deplazes J, et al. (2006). "Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra". Neurosci. Lett. 407 (1): 16–9. doi:10.1016/j.neulet.2006.07.070. PMID 16935420. S2CID 45492253.
Zhang QQ, Jiang H, Li CY, Liu YL, Tian XY (September 2020). "H63D CG genotype of HFE is associated with increased risk of sporadic amyotrophic lateral sclerosis in a single population". Journal of Integrative Neuroscience. 19 (3): 495–499. doi:10.31083/j.jin.2020.03.131. PMID 33070529.
Adams PC, Pankow JS, Barton JC, et al. (2009). "HFE C282Y Homozygosity Is Associated With Lower Total and Low-Density Lipoprotein Cholesterol: The Hemochromatosis and Iron Overload Screening Study". Circ. Cardiovasc. Genet. 2 (1): 34–7. doi:10.1161/CIRCGENETICS.108.813089. PMID 20031565.
Franchini M (2006). "Hereditary iron overload: Update on pathophysiology, diagnosis, and treatment". Am. J. Hematol. 81 (3): 202–9. doi:10.1002/ajh.20493. PMID 16493621.
Castiella A, Zapata E, Zubiaurre L, et al. (2015). "Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country". Annals of Hepatology. 14 (3): 333–9. doi:10.1016/S1665-2681(19)31272-4. PMID 25864213.
Jin F, Qu L, Shen X (2010). "Association between C282Y and H63D mutations of the HFE gene with hepatocellular carcinoma in European populations: a meta-analysis". J. Exp. Clin. Cancer Res. 29 (1): 18. doi:10.1186/1756-9966-29-18. PMC 2845109. PMID 20196837.
Machado MV, Ravasco P, Martins A, et al. (2009). "Iron homeostasis and H63D mutations in alcoholics with and without liver disease". World Journal of Gastroenterology. 15 (1): 106–11. doi:10.3748/wjg.15.106. PMC 2653287. PMID 19115475.
Kelley et al Iron overload is rare in patients homozygous for the H63D mutation Can J Gastroenterol Hepatol 2014
Séguéla et al Eosinophilic cardiac disease: Molecular, clinical and imaging aspects Arch Cardiovasc Dis 2015
Charmandari et al. Adrenal insufficiency The Lancet 2014
Semenova EA, Miyamoto-Mikami E, Akimov EB, Al-Khelaifi F, Murakami H, Zempo H, Kostryukova ES, Kulemin NA, Larin AK, Borisov OV, Miyachi M, Popov DV, Boulygina EA, Takaragawa M, Kumagai H, Naito H, Pushkarev VP, Dyatlov DA, Lekontsev EV, Pushkareva YE, Andryushchenko LB, Elrayess MA, Generozov EV, Fuku N, Ahmetov II (March 2020). "The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis". European Journal of Applied Physiology. 120 (3): 665–673. doi:10.1007/s00421-020-04306-8. PMC 7042188. PMID 31970519.

ncbi.nlm.nih.gov

Olynyk JK, Trinder D, Ramm GA, Britton RS, Bacon BR (September 2008). "Hereditary hemochromatosis in the post-HFE era". Hepatology. 48 (3): 991–1001. doi:10.1002/hep.22507. PMC 2548289. PMID 18752323.
Liu Y, Lee SY, Neely E, et al. (2011). "Mutant HFE H63D Protein Is Associated with Prolonged Endoplasmic Reticulum Stress and Increased Neuronal Vulnerability". J. Biol. Chem. 286 (15): 13161–70. doi:10.1074/jbc.M110.170944. PMC 3075663. PMID 21349849.
Bartzokis G, Lu PH, Tishler TA, et al. (2010). "Prevalent Iron Metabolism Gene Variants Associated with Increased Brain Ferritin Iron in Healthy Older Men". J. Alzheimer's Dis. 20 (1): 333–41. doi:10.3233/JAD-2010-1368. PMC 3119253. PMID 20164577.
Guerreiro RJ, Bras JM, Santana I, et al. (2006). "Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort". BMC Neurology. 6 (24): 24. doi:10.1186/1471-2377-6-24. PMC 1534050. PMID 16824219.
Jin F, Qu L, Shen X (2010). "Association between C282Y and H63D mutations of the HFE gene with hepatocellular carcinoma in European populations: a meta-analysis". J. Exp. Clin. Cancer Res. 29 (1): 18. doi:10.1186/1756-9966-29-18. PMC 2845109. PMID 20196837.
Machado MV, Ravasco P, Martins A, et al. (2009). "Iron homeostasis and H63D mutations in alcoholics with and without liver disease". World Journal of Gastroenterology. 15 (1): 106–11. doi:10.3748/wjg.15.106. PMC 2653287. PMID 19115475.
Semenova EA, Miyamoto-Mikami E, Akimov EB, Al-Khelaifi F, Murakami H, Zempo H, Kostryukova ES, Kulemin NA, Larin AK, Borisov OV, Miyachi M, Popov DV, Boulygina EA, Takaragawa M, Kumagai H, Naito H, Pushkarev VP, Dyatlov DA, Lekontsev EV, Pushkareva YE, Andryushchenko LB, Elrayess MA, Generozov EV, Fuku N, Ahmetov II (March 2020). "The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis". European Journal of Applied Physiology. 120 (3): 665–673. doi:10.1007/s00421-020-04306-8. PMC 7042188. PMID 31970519.

researchgate.net

Banaszkiewicz et al. Endocrine disorders in patients with hereditary hemochromatosis European Journal of Translational and Clinical Medicine, 2018
Seideman et al. Preprint: Injury protection strategies for H63D syndrome patients suffering from cataplexy 2021

researchsquare.com

assets.researchsquare.com

Preprint: Incidence of a clinically relevant H63D syndrome in carriers of a homozygous mutation of HFE gene H63D, accessed 09/05/2022

semanticscholar.org

api.semanticscholar.org

Fujii H, Takagaki N, Yoh T, et al. (2008). "Non-prescription supplement-induced hepatitis with hyperferritinemia and mutation (H63D) in the HFE gene". Hepatology Research. 38 (3): 319–23. doi:10.1111/j.1872-034X.2007.00266.x. PMID 17944940. S2CID 30008466.
Castiella A, Urreta I, Zapata E, et al. (2019). "H63/H63D genotype and the H63D allele are associated in patients with hyperferritinemia to the development of metabolic syndrome". Eur. J. Intern. Med. (Letter to the Editor). 72: 106–107. doi:10.1016/j.ejim.2019.11.021. PMID 31796245. S2CID 208623301.
Valenti L, Fracanzani AL, Bugianesi E, et al. (2010). "HFE Genotype, Parenchymal Iron Accumulation, and Liver Fibrosis in Patients With Nonalcoholic Fatty Liver Disease". Gastroenterology. 138 (3): 905–12. doi:10.1053/j.gastro.2009.11.013. hdl:2318/85426. PMID 19931264. S2CID 13091615.
Ellervik C, Tybjaerg-Hansen A, Appleyard M, et al. (2007). "Hereditary hemochromatosis genotypes and risk of ischemic stroke". Neurology. 68 (13): 1025–31. doi:10.1212/01.wnl.0000257814.77115.d6. PMID 17389307. S2CID 43908712.
Mitchell RM, Lee SY, Simmons Z, et al. (2011). "HFE polymorphisms affect cellular glutamate regulation". Neurobiol. Aging. 32 (6): 1114–23. doi:10.1016/j.neurobiolaging.2009.05.016. PMID 19560233. S2CID 22440350.
Hall EC 2nd, Lee SY, Simmons Z, et al. (2010). "Prolyl-peptidyl isomerase, Pin1, phosphorylation is compromised in association with the expression of the HFE polymorphic allele, H63D" (PDF). Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1802 (4): 389–95. doi:10.1016/j.bbadis.2010.01.004. PMID 20060900. S2CID 46729333.
Dekker MC, Giesbergen PC, Njajou OT, et al. (2003). "Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism". Neurosci. Lett. 348 (2): 117–9. doi:10.1016/S0304-3940(03)00713-4. PMID 12902032. S2CID 32076298.
Borie C, Gasparini F, Verpillat P, et al. (2002). "Association study between iron-related genes polymorphisms and Parkinson's disease". J. Neurol. 249 (7): 801–4. doi:10.1007/s00415-002-0704-6. PMID 12140659. S2CID 22293375.
Akbas N, Hochstrasser H, Deplazes J, et al. (2006). "Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra". Neurosci. Lett. 407 (1): 16–9. doi:10.1016/j.neulet.2006.07.070. PMID 16935420. S2CID 45492253.

web.archive.org

"H63D - The Other Mutation" (PDF). Iron Disorders Institute nanograms. 2010. Archived from the original (PDF) on 2018-10-24. Retrieved 2019-12-22.