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1

Spina, E. "Genetic aspects of tricyclic antidepressants metabolism: Clinical implications." Pharmacological Research 22 (September 1990): 467. http://dx.doi.org/10.1016/s1043-6618(09)80472-6.

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2

Agarwal, D. "Molecular Genetic Aspects of Alcohol Metabolism and Alcoholism." Pharmacopsychiatry 30, no. 03 (1997): 79–84. http://dx.doi.org/10.1055/s-2007-979487.

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3

Towbin, J. A. "Molecular Genetic Aspects of Cardiomyopathy." Biochemical Medicine and Metabolic Biology 49, no. 3 (1993): 285–320. http://dx.doi.org/10.1006/bmmb.1993.1032.

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4

Hosoi, Takayuki. "Genetic aspects of osteoporosis." Journal of Bone and Mineral Metabolism 28, no. 6 (2010): 601–7. http://dx.doi.org/10.1007/s00774-010-0217-9.

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5

Owen, John B. "Genetic aspects of body composition." Nutrition 15, no. 7-8 (1999): 609–13. http://dx.doi.org/10.1016/s0899-9007(99)00097-0.

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6

Eichelbaum, M., and A. S. Gross. "The genetic polymorphism of debrisoquine/sparteine metabolism — Clinical aspects." Pharmacology & Therapeutics 46, no. 3 (1990): 377–94. http://dx.doi.org/10.1016/0163-7258(90)90025-w.

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7

Witt, Heiko, and Eesh Bhatia. "Genetic aspects of tropical calcific pancreatitis." Reviews in Endocrine and Metabolic Disorders 9, no. 3 (2008): 213–26. http://dx.doi.org/10.1007/s11154-008-9088-y.

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8

Iyanagi, Takashi, Yoshikazu Emi, and Shin-ichi Ikushiro. "Biochemical and molecular aspects of genetic disorders of bilirubin metabolism." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1407, no. 3 (1998): 173–84. http://dx.doi.org/10.1016/s0925-4439(98)00044-1.

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9

Zhilyaeva, T. V., A. V. Sergeeva, A. S. Blagonravova, G. E. Mazo, and A. O. Kibitov. "One-Carbon Metabolism Disorders in Schizophrenia: Genetic and Therapeutic Aspects." Neurochemical Journal 13, no. 2 (2019): 113–20. http://dx.doi.org/10.1134/s1819712419020156.

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10

Sadaf Farooqi, I. "Genetic and hereditary aspects of childhood obesity." Best Practice & Research Clinical Endocrinology & Metabolism 19, no. 3 (2005): 359–74. http://dx.doi.org/10.1016/j.beem.2005.04.004.

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11

Opocher, Giuseppe, Francesca Schiavi, Pierantonio Conton, Carla Scaroni, and Franco Mantero. "Clinical and Genetic Aspects of Phaeochromocytoma." Hormone Research in Paediatrics 59, no. 1 (2003): 56–61. http://dx.doi.org/10.1159/000067846.

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12

Frisk, Tony, Catharina Larsson, Göran Wallin, and Jan Zedenius. "Follicular thyroid tumors: clinical and genetic aspects." Current Opinion in Endocrinology & Diabetes 9, no. 1 (2002): 43–50. http://dx.doi.org/10.1097/00060793-200202000-00007.

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13

LaRosa, John C. "Androgens and women's health: Genetic and epidemiologic aspects of lipid metabolism." American Journal of Medicine 98, no. 1 (1995): S22—S26. http://dx.doi.org/10.1016/s0002-9343(99)80055-2.

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14

Sebezhko, O. I., K. N. Narozhnykh, O. S. Korotkevich, D. A. Alexandrova, and I. N. Morozov. "Contemporary aspects of cholesterol metabolism in cattle." Bulletin of NSAU (Novosibirsk State Agrarian University), no. 2 (July 13, 2021): 91–105. http://dx.doi.org/10.31677/2072-6724-2021-59-2-91-105.

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The literature review presents the current understanding of cholesterol metabolism occurring under physiological conditions. The homeostasis of cholesterol in the body is determined by its endogenous synthesis, the transition to the cell from plasma as part of low-densitylipoproteins( LDL), the release of their cells as part of high-density lipoproteins (HDL). The molecular-genetic mechanisms of regulation of cholesterol homeostasis are described in detail. The genes for cholesterol biosynthesis in major multicellular animals were inherited from their last common eukaryotic ancestor and are ev
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15

Miedlich, S., K. Krohn, and R. Paschke. "Update on genetic and clinical aspects of primary hyperparathyroidism." Clinical Endocrinology 59, no. 5 (2003): 539–54. http://dx.doi.org/10.1046/j.1365-2265.2003.t01-1-01755.x.

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16

Refetoff, Samuel. "Clinical and Genetic Aspects of Resistance to Thyroid Hormone." Endocrinologist 2, no. 4 (1992): 261–72. http://dx.doi.org/10.1097/00019616-199207000-00008.

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17

Petenuci, Janaina, Augusto G. Guimaraes, Gustavo F. C. Fagundes, et al. "Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas." Clinical Endocrinology 95, no. 1 (2021): 117–24. http://dx.doi.org/10.1111/cen.14467.

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18

Eriksson, C. J. P. "Genetic aspects of the relation between alcohol metabolism and consumption in humans." Mutation Research/Reviews in Genetic Toxicology 186, no. 3 (1987): 241–47. http://dx.doi.org/10.1016/0165-1110(87)90006-6.

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19

Wieacker, Peter, and Ilse Wieland. "Clinical and genetic aspects of craniofrontonasal syndrome: Towards resolving a genetic paradox." Molecular Genetics and Metabolism 86, no. 1-2 (2005): 110–16. http://dx.doi.org/10.1016/j.ymgme.2005.07.017.

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20

Pöschl, Gudrun, Felix Stickel, Xiang D. Wang, and Helmut K. Seitz. "Alcohol and cancer: genetic and nutritional aspects." Proceedings of the Nutrition Society 63, no. 1 (2004): 65–71. http://dx.doi.org/10.1079/pns2003323.

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Chronic alcohol consumption is a major risk factor for cancer of upper aero-digestive tract (oro-pharynx, hypopharynx, larynx and oesophagus), the liver, the colo-rectum and the breast. Evidence has accumulated that acetaldehyde is predominantly responsible for alcohol-associated carcinogenesis. Acetaldehyde is carcinogenic and mutagenic, binds to DNA and protein, destroys the folate molecule and results in secondary cellular hyper-regeneration. Acetaldehyde is produced by mucosal and cellular alcohol dehydrogenase, cytochrome P450 2E1 and through bacterial oxidation. Its generation and/or its
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21

Wenger, David A., Mohammad A. Rafi, Paola Luzi, Jeffrey Datto, and Elvira Costantino-Ceccarini. "Krabbe Disease: Genetic Aspects and Progress toward Therapy." Molecular Genetics and Metabolism 70, no. 1 (2000): 1–9. http://dx.doi.org/10.1006/mgme.2000.2990.

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22

Zenker, Martin. "Genetic and Pathogenetic Aspects of Noonan Syndrome and Related Disorders." Hormone Research 72, no. 2 (2009): 57–63. http://dx.doi.org/10.1159/000243782.

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23

Gloria-Bottini, F., A. Amante, P. Lucarelli, P. Saccucci, R. Martinoli, and E. Bottini. "Functional aspects of genetic variability in the GH genomic region." Journal of Endocrinology 193, no. 1 (2007): 85–92. http://dx.doi.org/10.1677/joe-06-0062.

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Because of the small differences among genotypes, it would be difficult in basal conditions to detect the effect of genetic polymorphism in endocrine function, but this could emerge during provocative tests. We have studied four polymorphic sites of the GH gene region (17q24.2), MSPIA, MSPIB, BGLIIA, and BGLIIB. Gene and haplotype distributions in classes of growth retardation have been studied. The outcome of GH diagnostic test in relation to GH region genotypes has been evaluated by the analysis of area under the GH secretory curve. Ninety-eight growth retarded children have been studied. On
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24

Lutz, Ulrich. "Alterations in Homocysteine Metabolism Among Alcohol Dependent Patients - Clinical, Pathobiochemical and Genetic Aspects." Current Drug Abuse Reviewse 1, no. 1 (2008): 47–55. http://dx.doi.org/10.2174/1874473710801010047.

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25

Shumatova, T. A., Nelli G. Prihodchenko, A. N. Ni, et al. "CLINICAL AND GENETIC ASPECTS OF NITRIC OXIDE METABOLISM IN CHILDREN WITH FOOD ALLERGY." Russian Pediatric Journal 20, no. 5 (2019): 260–63. http://dx.doi.org/10.18821/1560-9561-2017-20-5-260-263.

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26

Koudsi, Nael, Jennifer O'Loughlin, Daniel Rodriguez, Janet Audrain-McGovern, and Rachel Tyndale. "The genetic aspects of nicotine metabolism and their impact on adolescent nicotine dependence." Journal of Pediatric Biochemistry 01, no. 02 (2016): 105–23. http://dx.doi.org/10.1055/s-0036-1586369.

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27

Andersen, Mette Korre, and Torben Hansen. "Genetic Aspects of Latent Autoimmune Diabetes in Adults: A Mini-Review." Current Diabetes Reviews 15, no. 3 (2019): 194–98. http://dx.doi.org/10.2174/1573399814666180730123226.

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Diabetes is a multifactorial disease, caused by a complex interplay between environmental and genetic risk factors. Genetic determinants of particularly Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D) have been studied extensively, whereas well-powered studies of Latent Autoimmune Diabetes in Adults (LADA) are lacking. So far available studies support a clear genetic overlap between LADA and T1D, however, with smaller effect sizes of the T1D-risk variants in LADA as compared to T1D. A genetic overlap between LADA and T2D is less clear. However, recent studies, including large numbers of LADA p
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28

Mullis, Primus E. "Genetic control of growth." European Journal of Endocrinology 152, no. 1 (2005): 11–31. http://dx.doi.org/10.1530/eje.1.01797.

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The application of the powerful tool molecular biology has made it possible to ask questions not only about hormone production and action but also to characterize many of the receptor molecules that initiate responses to the hormones. We are beginning to understand how cells may regulate the expression of genes and how hormones intervene in regulatory processes to adjust the expression of individual genes. In addition, great strides have been made in understanding how individual cells talk to each other through locally released factors to coordinate growth, differentiation, secretion, and othe
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29

Pepe, Sara, Márta Korbonits, and Donato Iacovazzo. "Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects." Journal of Endocrinology 240, no. 2 (2019): R21—R45. http://dx.doi.org/10.1530/joe-18-0446.

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While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or FIPA) or as part of a syndrome. FIPA is caused, in 15–30% of all kindreds, by inactivating mutations in the AIP gene, encoding a co-chaperone with a vast array of interacting partners and causing most commonly growth hormone excess. While the mechanisms linking AIP with pituitary tumorigenesis have not been fully understood, they are likely to involve several pathways, includi
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30

Tatour, Yasmin, and Tamar Ben-Yosef. "Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects." Diagnostics 10, no. 10 (2020): 779. http://dx.doi.org/10.3390/diagnostics10100779.

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Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described. Approximately 200 genes are associated with these syndromes. The majority of syndromic IRDs are recessively inherited and rare. Many, although not all, syndromic IRDs can be classified into one of two major disease groups: inborn errors of metabolism and ciliopathies. Besides the retina, the systems and organs most commonly involved in syndromic IRDs are the central nervous syste
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31

Usala, Stephen J. "New Developments in Clinical and Genetic Aspects of Thyroid Hormone Resistance Syndromes." Endocrinologist 5, no. 1 (1995): 68–76. http://dx.doi.org/10.1097/00019616-199501000-00010.

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32

Semenova, N. V. "Ethical aspects for genomic research in psychiatry." V.M. BEKHTEREV REVIEW OF PSYCHIATRY AND MEDICAL PSYCHOLOGY, no. 4-1 (December 9, 2019): 41–42. http://dx.doi.org/10.31363/2313-7053-2019-4-1-41-42.

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The genomic research is one of the most dynamically developing fields both in the worldwide and in Russia. Currently, the genetic approaches in psychiatry are used to solve the practical and scientific problems related to medical genetic counseling, identification of the genetic factors associated with characteristics of metabolism of medicines or development of their side effects, as well as to develop the new approaches to classification of psychiatric disorders. Given the complexity and the unresolved nature of the several methodological issues related to ethics and protection of the rights
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33

Stankovic, Sanja, and Nada Majkic-Singh. "Genetic aspects of ischemic stroke: coagulation, homocysteine, and lipoprotein metabolism as potential risk factors." Critical Reviews in Clinical Laboratory Sciences 47, no. 2 (2010): 72–123. http://dx.doi.org/10.3109/10408361003791520.

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34

Flodin, Nestor W. "Metabolism of Trace Elements in Man. Vol. I—Developmental Aspects. Vol. II—Genetic Implications." Journal of the American College of Nutrition 6, no. 2 (1987): 195. http://dx.doi.org/10.1080/07315724.1987.10738106.

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35

Oddy, VH. "Regulation of muscle protein metabolism in sheep and lambs: nutritional, endocrine and genetic aspects." Australian Journal of Agricultural Research 44, no. 5 (1993): 901. http://dx.doi.org/10.1071/ar9930901.

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Muscle protein accretion, as with the body in general, increases with feed intake. Protein balance across hind limb muscles occurs at energy intakes less than energy balance in the animal as a whole. There is considerable between-sheep variation in muscle protein accretion, and in the relative rates of protein synthesis and degradation, which are in part due to inherent differences in growth potential. Lambs selected for high weight at weaning deposit proportionately more nitrogen in the body than those selected for low weight at weaning. Inherently faster growing lambs have lower rates of pro
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36

Elena, Grechi, Cammarata Bruna, Mariani Benedetta, Di Candia Stefania, and Chiumello Giuseppe. "Prader-Willi Syndrome: Clinical Aspects." Journal of Obesity 2012 (2012): 1–13. http://dx.doi.org/10.1155/2012/473941.

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Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient’s life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. Durin
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37

Dénes, Judit, and Márta Korbonits. "The clinical aspects of pituitary tumour genetics." Endocrine 71, no. 3 (2021): 663–74. http://dx.doi.org/10.1007/s12020-021-02633-0.

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Abstract Background Pituitary tumours are usually benign and relatively common intracranial tumours, with under- and overexpression of pituitary hormones and local mass effects causing considerable morbidity and increased mortality. While most pituitary tumours are sporadic, around 5% of the cases arise in a familial setting, either isolated [familial isolated pituitary adenoma, related to AIP or X-linked acrogigantism], or in a syndromic disorder, such as multiple endocrine neoplasia type 1 or 4, Carney complex, McCune–Albright syndrome, phaeochromocytoma/paraganglioma with pituitary adenoma,
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38

Tálosi, Gyula, Emöke Endreffy, Sándor Túri, and Ilona Németh. "Molecular and Genetic Aspects of Preeclampsia: State of the Art." Molecular Genetics and Metabolism 71, no. 4 (2000): 565–72. http://dx.doi.org/10.1006/mgme.2000.3099.

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39

Andreas, Plaitakis, Flessas Panayiotis, B. Natsiou Anastasia, and P. Shashidharan. "Glutamate Dehydrogenase Deficiency in Cerebellar Degenerations: Clinical, Biochemical and Molecular Genetic Aspects." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 20, S3 (1993): S109—S116. http://dx.doi.org/10.1017/s0317167100048617.

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ABSTRACT:Glutamate dehydrogenase (GDH), an enzyme central to glutamate metabolism, is significantly reduced in patients with heterogenous neurological disorders characterized by multiple system atrophy (MSA) and predominant involvement of the cerebellum and its connections. In human brain, GDH exists in multiple isoforms differing in their isoelectric point and molecular mass. These are differentially reduced in quantity and altered in catalytic activity in patients with clinically distinct forms of MSA, thus suggesting that these GDH isoproteins are under different genetic control. Dysregulat
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40

Burrin, J. M. "Book Review: Bailliere's Clinical Endocrinology and Metabolism—Genetic and Molecular Biological Aspects of Endocrine Disease." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 33, no. 2 (1996): 180–81. http://dx.doi.org/10.1177/000456329603300227.

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41

Иванов, А. В., Э. Д. Вирюс, В. И. Логинов, et al. "Homocysteine metabolism in rodent models with hyperhomocysteinemia. Part 1: genetic models." ZHurnal «Patologicheskaia fiziologiia i eksperimental`naia terapiia», no. 4() (December 18, 2020): 118–24. http://dx.doi.org/10.25557/0031-2991.2020.04.118-124.

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Моделирование гипергомоцистеинемии на грызунах является одним из основных способов изучения роли гомоцистеина в патофизиологии различных заболеваний (инфаркта миокарда, инсультов, когнитивных нарушений, болезни Альцгеймера, почечной недостаточности и др.). В настоящем обзоре рассмотрены биохимичекие аспекты метаболизма гомоцистеина, генетические способы моделирования гипергомоцистеинемии на крысах и мышах и их влияние на метаболизм как самого гомоцистеина так и на связанные с ним метаболиты: метионин, цистеин, S-аденозилметионин, S-аденозилгомоцистеин. Modeling hyperhomocysteinemia in rodents
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42

Vladimirovna, Filippova Tamara, Khafizov Кamil Faridovich, Rudenko Vadim Igorevich, et al. "Genetic factors of polygenic urolithiasis." Urologia Journal 87, no. 2 (2020): 57–64. http://dx.doi.org/10.1177/0391560319898375.

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The article summarizes the findings of Russian and international studies of the genetic aspects of polygenic urolithiasis associated with impairment of calcium metabolism. The article analyzes the genetic risk factors of polygenic nephrolithiasis that show significant association with the disease in case-control studies and Genome-Wide Association Studies (16 genes). We described the gene functions involved in concrement formation in polygenic nephrolithiasis. The modern molecular and genetic technologies (DNA microarray, high-throughput DNA sequencing, etc.) enable identification of the genet
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43

Donn, RP, and DW Ray. "Macrophage migration inhibitory factor: molecular, cellular and genetic aspects of a key neuroendocrine molecule." Journal of Endocrinology 182, no. 1 (2004): 1–9. http://dx.doi.org/10.1677/joe.0.1820001.

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The immunological and neuroendocrine properties of macrophage migration inhibitory factor (MIF) are diverse. In this article we review the known cellular, molecular and genetic properties of MIF that place it as a key regulatory cytokine, acting within both the innate and adaptive immune responses.The unexpected and paradoxical induction of MIF secretion by low concentrations of glucocorticoids is explored. The role of MIF as a locally acting modulator of glucocorticoid sensitivity within foci of inflammation is also discussed. MIF has no homology with any other pro-inflammatory cytokine and u
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44

Pani, Giovambattista, Osvaldo Raùl Koch, and Tommaso Galeotti. "Molecular and genetic aspects of ethanol in human diet: a nutrient or a toxicant?" Genes & Nutrition 5, no. 2 (2010): 97–99. http://dx.doi.org/10.1007/s12263-010-0169-7.

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45

Martins, Rute, and Maria João Bugalho. "Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing." International Journal of Endocrinology 2014 (2014): 1–14. http://dx.doi.org/10.1155/2014/794187.

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Paragangliomas are rare neuroendocrine tumors that arise in the sympathetic or parasympathetic nervous system. Sympathetic paragangliomas are mainly found in the adrenal medulla (designated pheochromocytomas) but may also have a thoracic, abdominal, or pelvic localization. Parasympathetic paragangliomas are generally located at the head or neck. Knowledge concerning the familial forms of paragangliomas has greatly improved in recent years. Additionally to the genes involved in the classical syndromic forms:VHLgene (von Hippel-Lindau),RETgene (Multiple Endocrine Neoplasia type 2), andNF1gene (N
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46

Krizova, Lucia, Branislav  Kollar, Daniela Jezova, and Peter Turcani. "Genetic aspects of vitamin D receptor and metabolism in relation to the risk of multiple sclerosis." General physiology and biophysics 32, no. 04 (2013): 459–66. http://dx.doi.org/10.4149/gpb_2013067.

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47

Reed, Michael C., H. Frederik Nijhout, Marian L. Neuhouser, et al. "A Mathematical Model Gives Insights into Nutritional and Genetic Aspects of Folate-Mediated One-Carbon Metabolism." Journal of Nutrition 136, no. 10 (2006): 2653–61. http://dx.doi.org/10.1093/jn/136.10.2653.

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48

Raymond Eder, María Laura, and Alberto Luis Rosa. "Genetic, Physiological, and Industrial Aspects of the Fructophilic Non-Saccharomyces Yeast Species, Starmerella bacillaris." Fermentation 7, no. 2 (2021): 87. http://dx.doi.org/10.3390/fermentation7020087.

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Starmerella bacillaris (synonym Candida zemplinina) is a non-Saccharomyces yeast species, frequently found in enological ecosystems. Peculiar aspects of the genetics and metabolism of this yeast species, as well as potential industrial applications of isolated indigenous S. bacillaris strains worldwide, have recently been explored. In this review, we summarize relevant observations from studies conducted on standard laboratory and indigenous isolated S. bacillaris strains.
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49

Ellingwood, Sara S., and Alan Cheng. "Biochemical and clinical aspects of glycogen storage diseases." Journal of Endocrinology 238, no. 3 (2018): R131—R141. http://dx.doi.org/10.1530/joe-18-0120.

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The synthesis of glycogen represents a key pathway for the disposal of excess glucose while its degradation is crucial for providing energy during exercise and times of need. The importance of glycogen metabolism is also highlighted by human genetic disorders that are caused by mutations in the enzymes involved. In this review, we provide a basic summary on glycogen metabolism and some of the clinical aspects of the classical glycogen storage diseases. Disruptions in glycogen metabolism usually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain. Furthermore, t
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50

Lalouel, Jean-Marc, Dana E. Wilson, and Per-Henrik Iverius. "Lipoprotein lipase and hepatic triglyceride lipase: molecular and genetic aspects." Current Opinion in Lipidology 3, no. 2 (1992): 86–95. http://dx.doi.org/10.1097/00041433-199204000-00005.

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