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Dissertations / Theses on the topic 'Type 2/genetics'

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Published: 2 June 2025

Last updated: 31 July 2025

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1

Li, Luosheng. "Molecular genetics of type 2 diabetes /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-194-2/.

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2

Gloyn, Anna Louise. "Molecular genetics of type 2 diabetes." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.343364.

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3

Zhang, Yun. "Molecular genetics of type 2 diabetes." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298425.

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4

Patel, Pushpa. "Molecular genetics of Type 2 diabetes." Thesis, Open University, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.314843.

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5

Weedon, M. N. "Molecular genetics of type 2 diabetes." Thesis, Exeter and Plymouth Peninsula Medical School, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.701317.

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6

Saker, Philip John. "The molecular genetics of Type 2 diabetes." Thesis, Open University, 1995. http://oro.open.ac.uk/57565/.

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Type 2 diabetes has a substantial genetic component. The aim of this dissertation was to investigate the molecular basis of Type 2 diabetes with particular emphasis on the role of the glucokinase gene. Other work studied specific mutations in the tRNALeu(UUR) gene of mitochondrial DNA and in the glucagon receptor gene. The Introductory chapter presents an overview of Type 2 diabetes, and the influence of the environment and the contribution of genetics to its development. It then introduces the molecular biological approach to the study of this disease and the function of the J3-cell and the i

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7

Travers, Mary E. "Mechanisms of Type 2 diabetes susceptibility." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:d99892d8-534a-4908-b5dc-ab1d8b1cab52.

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Type 2 diabetes (T2D) has a genetic component which is only partially understood. The majority of genetic variance in disease susceptibility is unaccounted for, whilst the precise transcripts and molecular mechanisms through which most risk variants exert their effect is unclear. A complete understanding of T2D susceptibility mechanisms could have benefits in risk prediction, and in drug discovery through the identification of novel therapeutic targets. Work presented in this thesis aims to define relevant transcripts and disease mechanisms at known susceptibility loci, and to identify disease

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8

Cook, Joanne. "Genetic and environmental contributions to type 2 diabetes." Thesis, University of Oxford, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.306218.

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9

Evans, Julie Claire. "Genetics of diabetes and intra-uterine growth." Thesis, University of Exeter, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.342010.

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10

Freathy, Rachel Mary. "Molecular genetics of type 2 diabetes and body size." Thesis, University of Exeter, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.441434.

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11

Xie, W. "The genetics of type 2 diabetes and related traits." Thesis, Exeter and Plymouth Peninsula Medical School, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.701324.

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12

Agarwala, Vineeta. "Integrating empirical data and population genetic simulations to study the genetic architecture of type 2 diabetes." Thesis, Harvard University, 2013. http://dissertations.umi.com/gsas.harvard:11120.

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Most common diseases have substantial heritable components but are characterized by complex inheritance patterns implicating numerous genetic and environmental factors. A longstanding goal of human genetics research is to delineate the genetic architecture of these traits - the number, frequencies, and effect sizes of disease-causing alleles - to inform mapping studies, elucidate mechanisms of disease, and guide development of targeted clinical therapies and diagnostics. Although vast empirical genetic data has now been collected for common diseases, different and contradictory hypotheses ha

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13

Poa, Nicola. "Molecular Genetics of Type 2 Diabetes in New Zealand Polynesians." Thesis, University of Auckland, 2004. http://hdl.handle.net/2292/692.

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The risk of developing type 2 diabetes is four fold higher in New Zealand(NZ) Polynesians compared to Caucasians. Hence diabetes is more prevalent in Maori (16.5% of the general population) and Pacific Island people (10.1%) compared to NZ Caucasians (9.3%). It is generally accepted that type 2 diabetes has major genetic determinants and heterozygous mutations in a number of genes have previously been identified in some subsets of type 2 diabetes and certain ethnic groups. The high prevalence of diabetes in NZ Polynesians, when compared with NZ Caucasians, after controlling for age, income and

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14

De, Silva Niletthi Maneka Gayanthi. "Using genetics to understand the aetiology of type 2 diabetes." Thesis, Exeter and Plymouth Peninsula Medical School, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.553676.

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The aetiology of type 2 diabetes is complex with both genetic and environmental factors playing a role. Largely through genome-wide association studies, some proportion of the genetic component of type 2 diabetes and its related traits has been identified. However, there are some limitations in those study designs including possible overestimation of disease risk in the general population and a large proportion of unexplained heritability in the disease or trait of concern. There are several approaches that can be taken, to better understand the aetiology of type 2 diabetes. These include stud

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15

Mitchell, Simon Matthew Scott. "Genetics of beta-cell transcription factors in type 2 diabetes." Thesis, University of Exeter, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.399081.

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16

Shim, Hyeseok. "Biology of Type 2 Phosphatidylinositol-5-Phosphate 4-Kinase." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:23845419.

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Type 2 phosphatidylinositol-5-phosphate 4-kinase (PI5P4K) converts phosphatidylinositol-5-phosphate to phosphatidylinositol-4,5-bisphosphate. Mammals have three genes, PIP4K2A, PIP4K2B and PIP4K2C that encode the enzymes PI5P4Kα, PI5P4Kβ and PI5P4Kγ respectively. Studies in mice showed that PI5P4Kβ is a negative regulator of insulin signaling (Lamia et al., 2004) and that co-deletion of Pip4k2b and Trp53 resulted in synthetic embryonic lethality (Emerling et al., 2013). Also, deletion of two alleles of Pip4k2a and one allele of Pip4k2b suppressed the appearance of tumors in Trp53-/- mice. Thes

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17

Jackson, Alan Edward. "The genetics of type 2 diabetes mellitus from the Indian subcontinent." Thesis, Queen Mary, University of London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.420503.

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18

Richards, Hannah B. "Functional analysis of type 2 diabetes associated transcripts." Thesis, University of Oxford, 2014. https://ora.ox.ac.uk/objects/uuid:a1da01e0-5e60-4d4a-a621-6f1cae17a1d8.

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Genome wide association studies (GWAS) have transformed the study of the heritability of complex diseases such as type 2 diabetes (T2D), with the current tally of established risk loci close to ninety. Each of these loci has the potential to offer novel insights into the biology of this disease, and opportunities for clinical exploitation. However, the complexity of T2D has often frustrated efforts to achieve these functional and translational advances. This thesis aims to delve into the functional characterisation of two known susceptibility loci, KLF14 and ADCY5, and describe findings releva

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19

Claudio, Jaime O. "Characterization of the neurofibromatosis type 2 gene." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=42005.

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Neurofibromatosis type 2 (NF2) is a dominantly inherited genetic disorder predisposing to the development of nervous system tumors such as bilateral vestibular schwannomas, cranial and spinal meningiomas, nerve root schwannomas and ependymomas. The majority of NF2 patients develop juvenile lens opacities often presenting prior to the development of tumors usually in early teens. The NF2 gene had been identified by positional cloning. It encodes a recessive tumor suppressor protein mutated in both sporadic and familial schwannomas and meningiomas. We have isolated the mouse homologue of the NF2

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20

Ma, Ching-man, and 馬靜雯. "Molecular epidemiology and characterization of the receptor binding ofporcine circovirus type 2 (PCV2)." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B38227204.

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21

BoÌˆgler, Oliver. "Studies on the control of differentiation of the oligodendrocyte-type-2 astrocyte progenitor cell." Thesis, Open University, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.315330.

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22

Eltahla, Auda Abdelsalam Biotechnology &amp Biomolecular Sciences Faculty of Science UNSW. "Gestational diabetes mellitus: a model for the genetics of type 2 diabetes." Awarded by:University of New South Wales. Biotechnology & Biomolecular Sciences, 2009. http://handle.unsw.edu.au/1959.4/44607.

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The striking similarity between Gestational Diabetes Mellitus (GDM) and Type 2 Diabetes (T2D) in terms of the pathophysiologies and the risk factors has led to the hypothesis that GDM is an early manifestation of T2D, expressed under the stress of pregnancy, and therefore both diseases should share similar susceptibility genes. GDM patients may provide a more homogeneous sample for the genetic causes of the disease than T2D, and therefore make a useful group for the identification of the genes involved. Over 200 GDM affected sib-pairs from 178 families were investigated, with parents available

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23

Ward, K. J. "The molecular genetics of circulating triglycerides in health & type 2 diabetes." Thesis, Exeter and Plymouth Peninsula Medical School, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.701315.

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24

Liu, Ying. "Genetic and molecular analysis of ego-2, a positive regulator of Notch-type signaling in Caenorhabditis elegans." Related electronic resource: Current Research at SU : database of SU dissertations, recent titles available full text, 2007. http://wwwlib.umi.com/cr/syr/main.

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25

Taylor, Dennis Leland. "A genetic analysis of molecular traits in skeletal muscle." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/274158.

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Genome Wide Association Studies (GWASs) have identified variants associated with disease that promise to deliver insights into disease aetiology. However, because many GWAS variants lie in non-coding genomic regions, it is difficult to define the genes and pathways underlying a GWAS signal. The possibility of linking GWAS variants to molecular traits, combined with the development of high throughput assays, has motivated the mapping of molecular quantitative trait loci (QTLs), genetic associations with molecular traits such as gene expression (eQTLs) and DNA methylation (mQTLs). The Finland-Un

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26

Moura, Campos Carvalho Silva Ana Paula. "The relationship between genetics, type 2 diabetes, and physical activity with musculoskeletal pain." Thesis, The University of Sydney, 2019. https://hdl.handle.net/2123/22199.

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Musculoskeletal pain, such as low back pain, neck/shoulder pain, knee pain and hip pain have high prevalence rates. Many factors are believed to impact these complex conditions. However, it is not well-understood how these musculoskeletal pain conditions are affected by factors such as genetics, physical activity or type 2 diabetes. This thesis aimed to investigate how these factors impact on the prevalence, risk of musculoskeletal pain, particularly low back pain (LBP). Five studies were conducted to achieve these aims. Genetics influences LBP outcomes, but such influence is similar among man

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27

McCulloch, Laura Jade. "The molecular genetics of insulin secretion and signalling." Thesis, University of Oxford, 2011. http://ora.ox.ac.uk/objects/uuid:eb170e91-7b3c-453f-af58-7058909de435.

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Type 2 diabetes (T2D) and fasting plasma glucose (fpg) levels have distinct genetic components which are as yet only modestly understood. Understanding the genetics of this complex disorder and its related traits is likely to be of significant benefit to the field. Not only will it shed light on critical genes, pathways and mechanisms of regulation, but it may also contribute to the development of pharmaceutical anti-hyperglycaemic agents via the identification of key therapeutic targets. Therefore the aim of this thesis was to utilise a broad, multidisciplinary approach to study the genetics

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28

Jafar-Mohammadi, Bahram. "The evaluation of the contribution of low frequency, intermediate penetrance sequence variants to the pathogenesis of Type 2 Diabetes." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:809d4270-3a74-4fea-b696-2f619bfb7100.

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Genome wide association studies (GWAS) and their subsequent meta-analysis have identified a large number of susceptibility variants for Type 2 diabetes (T2D) risk. However, the familial aggregation seen in this disease is not yet fully explained. The sibling relative risk (λ<sub>s</sub>) due to all known variants is ~1.104 which is well below the epidemiological estimates of λ<sub>s</sub> of ~3.0. There has therefore been great interest in the potential role of variants that would have been largely invisible to the initial wave of GWAS and linkage approaches. Low frequency (minor allele freque

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29

Gu, Zhengxian 1957. "Identification and characterization of human immunodeficiency virus type 1 mutations responsible for resistance to 2',3"-dideoxyinosine, 2',3"- dideoxycytidine and 2',3"-dideoxy-3'-thiacytidine." Thesis, McGill University, 1995. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=39914.

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This work was designed to elucidate the molecular basis of HIV-1 resistance to nucleoside inhibitors of HIV reverse transcriptase (RT). These drugs can reduce viral load and improve quality of life. However, drug-resistant viruses emerge over time and are a major obstacle to successful therapy.<br>We have demonstrated two novel mutations in HIV-1 RT as responsible for HIV-1 resistance to a number of nucleoside analogs, using tissue culture selection procedures. A substitution of methionine to valine at residue 184 of RT (M184V) encoded low-level resistance both ddI and ddC and high level resis

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30

Fakhrai-Rad, Hossein. "Identification and characterization of candidate genes for type 2 diabetes in the GK rat /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3838-5/.

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31

Martz, Jacqueline Rae. "Perceived Knowledge and Attitudes of Certified Diabetes Educators Regarding Genetic Testing for Type 2 Diabetes Mellitus." Case Western Reserve University Doctor of Nursing Practice / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=casednp1418143271.

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32

Ma, Ching-man. "Molecular epidemiology and characterization of the receptor binding of porcine circovirus type 2 (PCV2)." Click to view the E-thesis via HKUTO, 2006. http://sunzi.lib.hku.hk/hkuto/record/B38227204.

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33

Buckley, Patrick. "Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4786.

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34

Evans, Jonathan. "APOE, PCSK9, and CETP genetic variants as potential biomarkers of dyslipidaemia in black South Africans with Type 2 Diabetes Mellitus." Master's thesis, University of Cape Town, 2018. http://hdl.handle.net/11427/29630.

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Dyslipidaemia is a commonly encountered clinical condition and is a major risk factor for cardiovascular diseases. Although there are many factors associated with dyslipidaemia, a strong genetic component is evident. Apolipoprotein E (APOE), proprotein convertase subtilisin/kexin type 9 (PCSK9), and cholesteryl ester transfer protein (CETP) are key regulators of plasma cholesterol levels. Thus, genetic variation in the genes coding for these proteins contributes to dyslipidaemia. In this study, a cohort of black South African Type 2 Diabetes Mellitus (T2DM) patients was characterized for mutat

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35

Yaghootkar, Hanieh. "The genetics of Type 2 diabetes and its link to gene expression and related phenotypes." Thesis, Exeter and Plymouth Peninsula Medical School, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.606688.

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Type 2 diabetes is caused by defective insulin secretion in the presence of insulin resistance. It usually occurs in late adulthood and is associated with high body mass index (BM I). Genome-wide association studies (GWASs) have identified more than 200 genetic variants associated with metabolic traits, including more than 100 associated with type 2 diabetes, obesity and insulin resistance. This number is increasing as larger meta-analyses of GWASs are performed. However, there has been a bottleneck in translating GWAS findings into improved knowledge of biology and disease mechanisms. This th

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36

Amir, Fatima E. "The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2." University of Cincinnati / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1522312243772827.

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37

van, de Bunt Gerrit Martinus. "Mechanisms of genome regulation in human islets and their role in the pathogenesis of type 2 diabetes." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:384baf0e-25b7-4ae4-a9c3-fee649d45368.

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Genome-wide association studies (GWAS) have made substantial progress in implicating genomic regions in type 2 diabetes (T2D) susceptibility. Whilst attributing causal mechanisms to loci has proved non trivial, these studies have provided insights into the genetic architecture underlying the disease. GWAS findings indicate a causal role for gene regulatory processes, and suggest that pancreatic beta-cells play a pivotal role in mediating common T2D association. Work presented in this thesis therefore sought to generate novel regulatory annotations from human islets, and to assess whether T2D-a

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38

Vendramini, Marcio Faleiros [UNIFESP]. "Variantes no gene da adiponectina (AdipoQ): relações com adiponectina e Diabetes Mellitus tipo 2 em nipo-brasileiros." Universidade Federal de São Paulo (UNIFESP), 2007. http://repositorio.unifesp.br/handle/11600/23826.

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Made available in DSpace on 2015-12-06T23:47:18Z (GMT). No. of bitstreams: 0 Previous issue date: 2007<br>Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)<br>Artigo 1: Plasma adiponectin levels and incident glucose intolerance in Japanese–Brazilians: A seven-year follow-up study (The objective of this study was to investigate whether decreased baseline adiponectin levels are an independent risk factor for development of glucose intolerance in a population-based study of Japanese–Brazilians, a group with one of the highest prevalence rates of diabetes worldwide. We examined 210

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39

Drong, Alexander Werner. "Comprehensive assessment of the role of DNA methylation in obesity and type 2 diabetes." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:c2df87d9-9929-4eb1-8c44-61452b88ea3c.

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Obesity and type 2 diabetes (T2D) are major risk factors for cardiovascular and other diseases and are currently undergoing an increase in global prevalence. The work presented in my thesis addresses the role epigenetics, specifically DNA methylation, plays in the susceptibility to obesity and T2D and deals with methodological issues in the analysis of DNA methylation data. I first combined epigenome-wide DNA methylation data across 38 adipose tissue samples with corresponding SNP and mRNA data for the same subjects. At 5&percnt; false discovery rate (FDR), methylation of 149 regions associate

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40

Cheema, Amanpreet K. "Peroxisome Proliferator-Activated Receptor-γ Coactivator 1-α (PPARGC1A) Genetic Associations with Type 2 Diabetes in Three Ethnicities". FIU Digital Commons, 2014. http://digitalcommons.fiu.edu/etd/1577.

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Genetic heterogeneity, lifestyle factors, gene-gene or gene-environment interactions are the determinants of T2D which puts Hispanics and populations with African ancestry at higher risk of developing T2D. In this dissertation, the genetic associations of PPARGC1A polymorphisms with T2D and its related phenotypes (metabolic markers) in Haitian Americans (cases=110, controls=116), African Americans (cases=120, controls=124) and Cuban Americans (cases=160, controls=181) of South Florida were explored. Five single nucleotide polymorphisms of gene PPARGC1A were evaluated in each ethnicity for thei

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41

Wright, Jennifer Anne. "Vigorous Physical Activity, Heredity, and Modulation of Risk for Obesity and Type 2 Diabetes in Postmenopausal Women." Diss., The University of Arizona, 2007. http://hdl.handle.net/10150/195196.

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Both obesity and type 2 diabetes are significant health burdens in our society. The prevention of these conditions is vital to individual health and to the health care system, which is inordinately stressed by these chronic diseases. Due to variations in individual response to interventions, prevention strategies may require some tailoring based on heritable traits.The objective of this study was to determine whether insulin sensitivity could be altered by resistance training, and further if body composition or insulin sensitivity response to resistance training in postmenopausal women may be

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42

Chen, Jing. "Expression of corticotrophin-releasing hormone receptor subtypes in human myometrium and cloning of the promoter region for the CRH receptors type 2." Thesis, University of Warwick, 2001. http://wrap.warwick.ac.uk/3084/.

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Corticotrophin releasing hormone (CRH) and CRH receptor (CRH-R) appear to play a number of important roles in human pregnancy. The purpose of the first part of my project was to clone and sequence CRH-R subtypes from human myometrial biopsies. In order to understand the molecular mechanisms that direct the expression of the CRH-R gene, the objective of the second part of my research project was to clone and characterise the promoter region of the human CRH-R2 gene. Our results demonstrated the presence of multiple CRH-R mRNAs in the human myometrium. Six subtypes of the CRH receptor, 1a, 1b, 1

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Atla, Goutham. "Dissecting genetic regulatory mechanisms in human pancreatic islets to gain insights into type 2 diabetes pathophysiology." Doctoral thesis, Universitat de Barcelona, 2021. http://hdl.handle.net/10803/672647.

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Diabetes mellitus is a heterogeneous group of metabolic diseases characterized by impaired blood glucose homeostasis that affects more than 415 million people worldwide and is a leading cause of mortality. The most prevalent form of diabetes is Type 2 Diabetes (T2D) that accounts for 90% of diabetes cases. An interplay of environmental and genetic risk factors contributes to etiology of T2D via a progressive loss of pancreatic beta cell function coupled with insulin resistance. Genome Wide Association Studies (GWAS) identified more than 400 independent genetic loci associated with T2D risk, al

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44

Canouil, Mickaël. "Développement et application de méthodologies statistiques pour études multi-omiques dans le diabète de type 2 : au-delà de l'ère des études d'association pangénomiques." Thesis, Lille 2, 2017. http://www.theses.fr/2017LIL2S017/document.

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Les études d'association pangénomiques (GWAS) ont permis l'identification de plusieurs dizaines de gènes et de polymorphismes nucléotidiques (SNPs) contribuant au risque de diabète de type 2.Plus généralement, les GWAS ont permis d'identifier des milliers de SNPs contribuant à des maladies complexes chez l'Homme.Cependant, la caractérisation fonctionnelle et les mécanismes biologiques impliquant ces SNPs et ces gènes restent en grande partie à explorer.En effet, les conséquences de ces polymorphismes sont complexes et peu connues. Une conséquence directe est l'altération de la protéine codée p

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45

Parry, Helen. "The roles of genetics and glycaemic control in the development of LVH and Heart Failure in Type 2 Diabetes." Thesis, University of Dundee, 2015. https://discovery.dundee.ac.uk/en/studentTheses/b7000b88-606c-4675-afe7-b720e33d7952.

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Cardiovascular disease is the leading cause of morbidity and mortality in diabetes. Not everyone with diabetes develops either LVH or HF, proposed factors influencing this include glycaemic control and genetic factors. No studies to date have looked at the genetics of LVH and HF specifically in T2DM.This thesis investigates the importance of glycaemic control and genetic factors in HF and LVH in T2DM. Data from patients with T2DM in the Go-DARTS study were used to identify individuals with HF, non-HF controls, individuals with LVH and non-LVH controls. Weighted mean HbA1C was calculated for ea

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46

Mantripragada, Kiran K. "Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5743.

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47

Gnanapragasam, Merlin Nithya. "The Role of Methyl CpG Binding Domain Protein 2 (MBD2) in the Regulation of Embryonic and Fetal β-type Globin Genes". VCU Scholars Compass, 2010. http://scholarscompass.vcu.edu/etd/2315.

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The reexpression of the fetal γ-globin gene in adult erythrocytes is of therapeutic interest due to its ameliorating effects in β-hemoglobinopathies. We recently showed that Methyl CpG Binding Domain Protein2 (MBD2) contributes to the silencing of the chicken embryonic ρ-globin and human fetal γ-globin genes. We further biochemically characterized an erythroid MeCP1 complex that is recruited by MBD2 to mediate the silencing of these genes. These observations suggest that the disruption of the MeCP1 complex could augment the expression of the fetal/embryonic globin genes. In the studies present

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48

Einarsdottir, Elisabet. "Mapping genetic diseases in northern Sweden." Doctoral thesis, Umeå universitet, Medicinsk biovetenskap, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-499.

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The population of northern Sweden has previously been shown to be well suited for the mapping of monogenic diseases. In this thesis we have tested the hypothesis that this population could also be used for efficient identification of risk genes for common diseases. In Paper I we have hypothesised that despite the admixture of Swedish, Finnish and Sami, the northern Swedish population consists of sub-populations geographically restricted by the main river valleys running through the region. This geographic isolation, in combination with founder effects and genetic drift, could represent a uniqu

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49

Paulsson, Johan F. "Proislet Amyloid Polypeptide (proIAPP) : Impaired Processing is an Important Factor in Early Amyloidogenesis in Type 2 Diabetes." Doctoral thesis, Linköping : Linköping University, 2006. http://www.bibl.liu.se/liupubl/disp/disp2006/med967s.pdf.

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50

Zethelius, Björn. "Proinsulin and Insulin Sensitivity as Predictors of Type 2 Diabetes Mellitus and Coronary Heart Disease : Clinical Epidemiological Studies with up to 27 Years of Follow-Up." Doctoral thesis, Uppsala University, Geriatrics, 2002. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3159.

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<p>Defects in insulin secretion and insulin action are the major abnormalities in the development of Type 2 diabetes. Hyperinsulinemia is a risk marker for Type 2 diabetes and according to some, but not in all studies also for coronary heart disease (CHD). Conventional insulin assays measure immunoreactive insulin including proinsulin-like molecules. </p><p>Proinsulin and insulin measured by specific methods, insulin sensitivity measured by the euglycemic insulin clamp and early insulin response after a glucose challenge give more detailed information and may be better estimates of true risk f

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