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Published: 11 March 2023

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1

Nussbaum, Robert L. Thompson & Thompson gene tica me dica. 7th ed. Rio de Janeiro: Saunders Elsevier, 2008.

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2

Een gang met gele deuren. Houten: Van Holkema & Warendorf, 2007.

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3

David, Sankoff, and Nadeau J. H, eds. Comparative genomics: Empirical and analytical approaches to gene order dynamics, map alignment and the evolution of gene families. Dordrecht: Kluwer Academic, 2000.

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4

Geen rede mee te rijmen: Geschiedenis van de psychiatrie. Warnsveld: Lannoo, 2011.

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5

Michaud, Josélito. Dans mes yeux à moi: Récit. Montréal: Libre expression, 2011.

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6

Michaud, Josélito. Dans mes yeux à moi: Récit. Montréal]: Édition du Club Québec loisirs, 2011.

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7

Ellenbroek, Willem, Trix Broekmans, and Thijs Wierema. De Man met het gele koffertje: Wim Wennekes 1948-2001. Amsterdam: Lubberhuizen, 2002.

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8

Geen leven zonder vriendschap: Over mensen met een ernstige beperking. Zoetermeer: Meinema, 2010.

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9

Vandenhole, F. Inventaris van veilingcatalogi, 1615-1914: Met topografische, alfabetische en inhoudsindexen. Gent: Rijksuniversiteit, Centrale Bibliotheek, 1987.

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10

McCann, Shaun R. Molecules, genes, and gene therapy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198717607.003.0009.

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The twenty-first century has brought many innovations in haematology, with improved diagnostic technology, which may inform treatment choices for malignant diseases, and a better understanding of the genetics and/or epigenetics underlying many diseases. Unfortunately, the aetiology of most of these diseases still eludes us, and some common diseases such as sickle cell disease await simple, inexpensive, and widely available curative treatment. For reasons that are often obscure, some diseases have become fashionable and attract large research financial backing, whereas some do not. With the advent of advanced technology and an improved understanding of disease mechanisms, most haematological malignancies should enjoy the same success as the treatment of childhood acute lymphoblastic leukaemia and chronic myeloid leukaemia.
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11

Franke, Barbara, and Jan K. Buitelaar. Gene–environment interactions. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0005.

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ADHD is highly heritable, but environmental factors also play significant roles in disease aetiology and outcome. Genetic and environmental influences are likely to show different types of interplay, with gene–environment interactions (G×E) playing a part. Different models of G×E exist, with the most frequently investigated in ADHD up to the present being the diathesis–stress and differential susceptibility models. The most frequently studied have been monoaminergic genes, often based on a single genetic variant. Only a single genome-wide study has been reported thus far. Environmental factors investigated include prenatal and postnatal risk factors for ADHD, in particular prenatal exposure to smoking or alcohol and aspects of parenting.
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12

Burghes, Arthur H. M., and Vicki L. McGovern. Spinal Muscular Atrophy. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0034.

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Spinal muscular atrophies affect the lower motor neuron. The most common SMA maps to 5q is an autosomal recessive disorder. SMA is caused by loss or mutation of the SMN1 gene and retention of the SMN2 gene, and these genes lie in a complex area of the genome. Mild missense alleles of SMN1 work to complement SMN2 to give function and therapeutics that restore SMN levels are in clinical testing. Modifiers that lie outside the SMN gene locus and influence severity clearly exist, but what they are remains unknown as do the critical genes affected by SMN deficiency.
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13

Monteggia, Lisa M., and Wei Xu. Methods for In Vivo Gene Manipulation. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0004.

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Recent advances in mouse genetics have opened many new avenues of research in which to explore gene function in the brain, and contributions to the pathophysiology and treatment of psychiatric disorders. The use of the mouse to explore gene function has contributed a better understanding of the role of specific genes in the nervous system including their influence on neural circuits and complex behavior.This chapter explores current approaches to manipulate gene function in a mouse. Genetically modified mice allow for the investigation of a particular gene in vivo. The approaches discussed highlight recent advances to specifically overexpress or disrupt a specific gene of interest in the brain. We also highlight viral-mediated gene transfer approaches to allow for spatial and temporal control of gene function.
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14

Goldman, David, Zhifeng Zhou, and Colin Hodgkinson. The Genetic Basis of Addictive Disorders. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0042.

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Addictive disorders are moderately to highly heritable, indicating that alleles transmitted from parents are protective, or enhance risk by whatever mechanisms. However, the inheritance of addictive disorders is complex, involving hundreds of genes and variants that are both common and rare, and that vary in effect size and context of action. Genes altering risk for addictions have been identified by pathway and candidate gene studies in humans and model organisms, and genomic approaches including genome-wide association, meiotic linkage, and sequencing. Genes responsible for shared liability to different addictive disorders have been identified, as well as genes that are relatively specific in altering risk of addiction to one agent. An impediment to overarching conclusions is that most of the heritability of addictions is unexplained at the level of gene or functional locus. However, new analytic approaches and tools have created new potentials for resolution of the “missing heritability.”
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15

Emery, Alan E. H., and Marcia L. H. Emery. The search for the gene. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199591473.003.0012.

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16

Powell, Craig M. SHANK Gene Family and Autism. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0011.

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SHANK3 deletion/mutation is an independently replicated, genetic cause of autism (Durand et al., 2007; Gauthier et al., 2009; Moessner et al., 2007) and is the major causative gene in the 22q13 deletion syndrome known as Phelan-McDermid syndrome (Bonaglia et al., 2011; Bonaglia et al., 2001; Bonaglia et al., 2006; Chen et al., 2011; Delahaye et al., 2009; Dhar et al., 2010; Jeffries et al., 2005; Misceo et al., 2011; Sarasua et al., 2011; Wilson et al., 2003). Patients with Phelan-McDermid syndrome uniformly have delayed or absent speech and many carry the diagnosis of autism spectrum disorder (Cusmano-Ozog, Manning, & Hoyme, 2007; Havens, Visootsak, Phelan, & Graham, 2004). More recently, mutations in SHANK2 have been implicated in autism and intellectual disability (Berkel et al., 2010; Pinto et al., 2010). These recent human genetic findings provide a compelling rationale for developing a comprehensive understanding of SHANK3 function in synapses, circuits, and behavior, resulting in three different novel genetic mouse models published by more than four independent laboratories (Bangash et al., 2011; Bozdagi et al., 2010; Peca et al., 2011; Wang et al., 2011). Such studies shed light on the underlying biology of autism caused by SHANK3 mutations. This chapter examines in detail the evidence supporting a role for SHANK genes in autism and intellectual disability as well as insights from the recent genetic animal models of SHANK3 mutations.
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17

Klengel, Torsten, Lauren A. M. Lebois, Sheila Gaynor, and Guia Guffanti. Genetics and Gene–Environment Interaction. Edited by Frederick J. Stoddard, David M. Benedek, Mohammed R. Milad, and Robert J. Ursano. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190457136.003.0017.

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Trauma and stress-related disorders make an excellent case for gene-environment interactions because although exposure to trauma and stress is a well-established risk factors toward their development, such factors alone are not sufficient to explain etiopathogenesis. Exposure to traumatic events is a prerequisite of posttraumatic stress disorder (PTSD) diagnosis, but the majority of individuals who are exposed to even a severe traumatic event do not develop PTSD. Why some individuals are vulnerable and others are resilient remains an open question. While genetic factors may play a significant role, it is conceivable that the complex interplay between genetic and environmental factors contribute to the observed interindividual variability.
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18

Gay Gene Rising: The Disciples of Goedric Trilogy. Pride Inspired, 2011.

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19

Cassidy, Jim, Donald Bissett, Roy A. J. Spence OBE, Miranda Payne, and Gareth Morris-Stiff. Surgical oncology. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199689842.003.0003.

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Cancer is a disease of the genes. In the last two decades new technologies have allowed us to interrogate the genome more efficiently and faster. This has led to new therapies and improved understanding of cancers. It is clear the few cancers are caused by just one gene defect and in these rare cases the defective gene or its product is a target for therapeutic intervention. The bigger challenge now is to use this paradigm against multi-genic cancers which are far more common and more complex in their genetic makeup.
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20

Fabbri, Chiara, and Alessandro Serretti. The treatment of bipolar disorder in the era of personalized medicine: myth or promise? Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198748625.003.0031.

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Bipolar disorder (BD) is a chronic disease associated with high personal and socio-economic burden. Genetics accounts for 20–95% of variability in central nervous system drug disposition and pharmacodynamics, thus genetic markers are considered a promising way to develop tailored treatments and improve the prognosis of the disease. Among mood stabilizers, lithium response was the most investigated phenotype and the most replicated genes are involved in synaptic plasticity (BDNF), serotonergic (SLC6A4) and dopaminergic (DRD1) neurotransmission, and second messenger cascades (GSK3B). Relevant pharmacogenetic findings regarding other mood stabilizers are hyperammonaemia (CPS1 gene) and hepatic dysfunction (POLG gene) induced by valproate and immune-mediated cutaneous hypersensitivity reactions (HLA-B*1502) induced by lamotrigine or carbamazepine. Polymorphisms in cytochrome (CYP) P450 genes are expected to provide useful information particularly in case of polypharmacy. Despite few pharmacogenetic tests are currently recommended, the development of pharmacogenetics in other fields of medicine provides an encouraging perspective.
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21

Caillaud, Catherine, and Frédéric Sedel. Neuronal Ceroid Lipofuscinoses. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0059.

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Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders beginning mainly in childhood, rarely in adults. They are characterized by the accumulation of autofluorescent lipopigments in brain, especially in neurons. Their clinical heterogeneity is now explained by the huge number of genes (from CLN1 to CLN14) involved in their pathogenesis. Their diagnosis is possible using enzymatic tests and/or direct sequencing of the corresponding genes. Different therapeutic approaches are in development for these diseases such as enzyme replacement therapy or gene transfer.
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22

Capone, George T. Down Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0056.

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People with Down syndrome (trisomy 21) are distinguished by having an extra copy of chromosome 21. Chromosome 21 contains an estimated 562 genes, including 161 known to code for functional proteins, and at least 396 considered novel. Gene dosage imbalance is the primary mechanism, which results in the molecular, cellular, histological, and anatomical features characteristic of the condition. Throughout brain development, major neurobiological events go awry, resulting in a differently organized brain and characteristic developmental delays noted during infancy and the preschool years. The consequences of gene dosage imbalance continue to have repercussions on neurobiological function throughout childhood and adult life.
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23

Biloshytsky, Vadym, and Roman Cregg. Pioneering use of gene therapy for pain. Edited by Paul Farquhar-Smith, Pierre Beaulieu, and Sian Jagger. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198834359.003.0083.

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The landmark paper discussed in this chapter is ‘Gene therapy for pain: Results of a Phase I clinical trial’, published by Fink et al. in 2011. In this study, the first of its kind, researchers studied the efficacy and safety of a modified herpes simplex virus (HSV) vector used to deliver PENK, which encodes proenkephalin, which is cleaved into the enkephalin peptides Met-enkephalin and Leu-enkephalin, which induce analgesia by acting on opioid receptors. The development of the HSV vector was based in part on results studies in which adenovirus, adeno-associated virus, or non-viral vectors were used to overexpress genes. Overexpression of a variety of large molecules leads to a reduction in pain-related behaviour in animals. Gene therapy in the treatment of chronic pain seems to offer a promising alternative to systemic or highly invasive therapies. However, additional research is needed to determine the safety, effectiveness, and cost-efficiency of this approach.
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24

Cassidy, Jim, Donald Bissett, Roy A. J. Spence OBE, Miranda Payne, and Gareth Morris-Stiff. Gene therapy and genetic immunotherapy for cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199689842.003.0039.

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25

Tülümen, Erol, and Martin Borggrefe. Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—short QT syndrome. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0150.

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Short QT syndrome (SQTS) is a very rare, sporadic or autosomal dominant inherited channelopathy characterized by abnormally short QT intervals on the electrocardiogram and increased propensity to atrial and ventricular tachyarrhythmias and/or sudden cardiac death. Since its recognition as a distinct clinical entity in 2000, significant progress has been made in defining the clinical, molecular, and genetic basis of SQTS. To date, several causative gain-of-function mutations in potassium channel genes and loss-of-function mutations in calcium channel genes have been identified. The physiological consequence of these mutations is an accelerated repolarization, thus abbreviated action potentials and shortened QT interval with an increased inhomogeneity and dispersion of repolarization. Regarding other rare monogenetic arrhythmias, a genetic basis of atrial fibrillation was considered very unlikely until very recently. However, in the last decade the heritability of atrial fibrillation in the general population has been well described in several epidemiological studies. So far, more than 30 genes have been implicated in atrial fibrillation through candidate gene approach studies, and 14 loci were found to be associated with atrial fibrillation through genome-wide association studies. This genetic heterogeneity and the low prevalence of mutations in any single gene restrict the clinical utility of genetic screening in atrial fibrillation.
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26

Postma, Alex V., David Sedmera, Frantisek Vostarek, Vincent M. Christoffels, and Connie R. Bezzina. Developmental aspects of cardiac arrhythmias. Edited by José Maria Pérez-Pomares, Robert G. Kelly, Maurice van den Hoff, José Luis de la Pompa, David Sedmera, Cristina Basso, and Deborah Henderson. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198757269.003.0027.

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The rhythmic and synchronized contraction of atria and ventricles is essential for efficient pumping of blood throughout the body. This process relies on the proper generation and conduction of the cardiac electrical impulse. Electrophysiological properties differ in various regions of the heart, revealing intrinsic heterogeneities rooted, at least in part, in regional differences in expression of ion channel and gap junction subunit genes. A causal relation between transcription factors and such regionalized gene expression has been established. Abnormal cardiac electrical function and arrhythmias in the postnatal heart may stem from a developmental changes in gene regulation. Genome-wide association studies have provided strong evidence that common genetic variation at developmental gene loci modulates electrocardiographic indices of conduction and repolarization and susceptibility to arrhythmia. Functional aspects are illustrated by description of selected prenatally occurring arrhythmias and their possible mechanisms. We also discuss recent findings and provide background insight into these complex mechanisms.
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27

Harms, Matthew B., and Timothy M. Miller. Amyotrophic Lateral Sclerosis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0027.

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Recent advances in sequencing technologies have dramatically expanded the number of genes associated with amyotrophic lateral sclerosis, including rare but highly penetrant causative mutations as well as common risk alleles. This chapter discusses these gene discoveries and how they have implicated a diverse array of biological pathways essential for motor neuron health and have begun to inform our understanding of ALS pathogenesis as a heterogeneous and multistep process. Insights from these discoveries are leading to a new generation of targeted therapies directed at specific genes and are poised to inform how patients with amyotrophic lateral sclerosis are evaluated and treated in the clinic.
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28

MacGregor, Alex, Ana Valdes, and Frances M. K. Williams. Genetics of osteoarthritis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0044.

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In this chapter we outline the approaches which have been adopted to identify genetic variants predisposing to osteoarthritis (OA), a condition long recognized as having a heritable component. Such routes to their identification include examining mendelian traits in which OA is a feature, candidate gene studies based on knowledge of OA pathobiology, linkage analysis in related individuals, and, more recently, genome-wide association studies in large samples of unrelated individuals. It is increasingly evident that the main symptom deriving from OA—notably joint pain—also has a genetic basis but this is differs from that underlying OA. Variants convincingly shown to predispose to OA lie in the GDF5 and MCF2L genes and in the chr7 cluster mapping to the COG5 gene, in addition to the ASPN gene in Asian populations. Those associated with pain in OA include TRPV1 and PACE4. Epigenetic influences are also being explored in both the pathogenesis of OA and the variation of pain processing.
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29

Chowdary, Sridev. Genes from the First Men. Notion Press, 2021.

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30

Solari, Alberto Juan. Genetica Humana: Fundamentos y Aplicaciones En Medicina. Editorial Medica Panamericana, 1999.

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31

Paylor, Richard, Alexia M. Thomas, Surabi Veeraragavan, and Corinne M. Spencer. Putting Into Perspective the Use of the Fmr1 Knockout Mouse as a Model for Autism Spectrum Disorder. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0007.

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Chapter 7 is concerned with the presence of autism spectrum disorder (ASD) in individuals with Fragile X Syndrome (FXS). It is estimated that 21–50% of individuals with FXS meet the criteria for autism or autism with pervasive developmental delay not otherwise specified. Importantly, recent findings indicate that approximately 2–6% of individuals with ASDs have a mutation in the FMR1 gene, making it one of the most significant single genes associated with the presence of ASD.
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32

Distel, Marijn A., and Marleen H. M. de Moor. Genetic Influences on Borderline Personality Disorder. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199997510.003.0007.

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Borderline personality disorder (BPD) tends to “run in families.” Twin and twin family studies show that BPD is moderately heritable, with some evidence for nonadditive gene action. BPD co-occurs with Axis I and other Axis II disorders, as well as with a certain profile of normal personality traits. Multivariate twin (family) studies have shown that these phenotypic associations are partly due to genetic associations, and this is observed most strongly for BPD and neuroticism. Candidate gene-finding studies for BPD suggest the possible role of genes in the serotonergic and dopaminergic system, but this needs to be confirmed in larger genome-wide studies. Future studies will complement the knowledge described in this chapter to enable us to move toward a comprehensive model of the development of BPD in which biological and environmental influences on BPD are integrated.
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33

Buxbaum, Joseph D. An Overview of the Genetics of Autism Spectrum Disorders. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0004.

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There is very good evidence for a strong genetic component to the autism spectrum disorders (ASDs), which include autistic disorder, Asperger syndrome, pervasive developmental disorder not otherwise specified, and Rett syndrome. At the same time, identifying the loci contributing to ASD risk has proven difficult because of extreme heterogeneity. However, in spite of these difficulties, many ASD loci have been identified and, even using current clinical measures, an etiological diagnosis can be given in upward of 20% of cases. With the introduction of “second-generation” sequencing, gene discovery in ASDs will accelerate. As genes are being discovered, functional analyses are leading to potential novel therapeutics, and there is great optimism for more effective treatments in ASDs arising from gene discovery. In the current review, some of the important findings in ASD genetics will be outlined, as will the next steps in ASD genetics.
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34

Alves, Ines Teles, Jan Trapman, and Guido Jenster. Molecular biology of prostate cancer. Edited by James W. F. Catto. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0059.

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Prostate cancer is a heterogeneous disease that arises through the acquisition of key malignant hallmarks. At the molecular level, prostate tumours are dependent upon the androgen receptor pathway, which affects cell function, growth, and behaviour through downstream androgen-regulated genes. Prostate cancer requires this activity and manipulates the AR pathway to maintain signalling. For example, mutation of the AR (to bind ligands other than androgens) or amplification/duplication of the AR allows signalling to continue in the absence of testosterone. Around 50% of prostate cancers have a gene fusion between the androgen-regulated component of the TMPRSS2 gene and a transcription factor (e.g. ETS family members ERG and ETV1). This results in aberrant androgen stimulated cell growth. Current research is using molecular knowledge to identify biomarkers, such as PCA3, and new therapies, such as enzalutamide or abiraterone acetate.
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35

Syrris, Petros, and Alexandros Protonotarios. Arrhythmogenic right ventricular cardiomyopathy: genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0359.

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder of the heart muscle which is typically inherited in an autosomal dominant manner. It is believed to be familial in over 50% of cases. A recessive mode of inheritance has also been reported in syndromic cases with cardiocutaneous features. The classic form of the disorder is considered to be ‘a disease of the desmosome’ as pathogenic variants have been identified in five genes encoding key desmosomal proteins: plakoglobin, desmoplakin, plakophilin-2, desmoglein-2, and desmocollin-2. Mutations in these genes account for 30–50% of ARVC cases. A further eight non-desmosomal genes have also been implicated in the pathogenesis of the disorder but only account for rare cases. Studies of patients with ARVC-associated gene mutations have revealed marked genetic heterogeneity and very limited genotype–phenotype correlation. Disease expression often varies significantly amongst individuals carrying the same mutation. It has been proposed that the presence of more than one sequence variant is required to determine overt clinical disease and patients with multiple variants have a more severe phenotype compared to single variant carriers. Identification of a potentially pathogenic variant comprises a major criterion in the diagnosis of ARVC but informative integration of genetic testing into clinical practice remains challenging. Gene testing should be used to identify asymptomatic family members at risk and only aids diagnosis in cases of high suspicion for ARVC, along with other evident features of the disease already present. However, genetic findings should be used with caution in clinical practice and their interpretation must be performed in expert centres.
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36

Powell, Craig M. PTEN and Autism With Macrocepaly. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0010.

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Phosphatase and Tensin homolog deleted on chromosome 10 (PTEN) is a gene encoding an intracellular signaling molecule. PTEN was originally discovered as the gene responsible for a subset of familial hamartoma (tumor) syndromes associated with increased risk for certain cancers (Nelen et al., 1997) and as a gene often mutated in human cancers and tumor cell lines (Li et al., 1997; Steck et al., 1997). More recently, mutations in PTEN have been linked genetically to the clinical phenotype of autism or developmental delay with macrocephaly (Boccone et al., 2006; Butler et al., 2005; Buxbaum et al., 2007; Goffin, Hoefsloot, Bosgoed, Swillen, & Fryns, 2001; Herman, Butter, et al., 2007; McBride et al., 2010; Orrico et al., 2009; Stein, Elias, Saenz, Pickler, & Reynolds, 2010; Varga, Pastore, Prior, Herman, & McBride, 2009; Zori, Marsh, Graham, Marliss, & Eng, 1998). This chapter examines the role of PTEN in intracellular signaling, the link between PTEN signaling pathways and other autism-related genes and signaling pathways, the genetic relationship between PTEN and autism, model systems in which effects of Pten deletion on the brain have been studied, and promising preclinical data identifying therapeutic targets for patients with autism/macrocephaly associated with PTEN mutations.
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37

Sim, Fraser J., and Steven A. Goldman. Gene Expression Patterns of Oligodendrocyte Progenitor Cells and Oligodendroglia. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199794591.003.0029.

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This is a digitally enhanced text. Readers can also see the coverage of this topic area in the second edition of Neuroglia. The second edition of Neuroglia was first published digitally in Oxford Scholarship Online and the bibliographic details provided, if cited, will direct people to that version of the text. Readers can also see the coverage of this topic area in the ...
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38

Ehninger, Dan, and Alcino J. Silva. Tuberous Sclerosis and Autism. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0009.

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Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in either the TSC1 or TSC2 genes (Consortium, 1993; van Slegtenhorst et al., 1997). In 70% of cases, TSC gene mutations arise de novo. The remaining 30% of cases are familial with an autosomal dominant pattern of inheritance. Tuberous sclerosis belongs to the group of phakomatoses (neurocutaneous disorders) and is associated with characteristic manifestations in various organ systems, including the brain, skin, kidney, lung, heart, and liver (Crino, Nathanson, & Henske, 2006; Curatolo, Bombardieri & Jozwiak, 2008). Pathological manifestations in these organ systems often include tumor growths or tissue malformations (hamartomas). While penetrance is high, expressivity of TSC phenotypes is highly variable. The birth incidence of TSC is approximately 1:6,000 (Osborne, Fryer, & Webb, 1991). This chapter is an updated and extended version of a previous article on this topic (Ehninger, de Vries, & Silva, 2009)
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39

Luyten, Hanne, and Noëmi Willemen. Het huis met de gele deur. Borgerhoff & Lamberigts, 2020.

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40

W, SMITH. Japanese Men Masc&Gend Jap Soc. Taylor & Francis Group, 1998.

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41

Bingham, Coralie. Hepatocyte nuclear factor-1B. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0315_update_001.

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Hepatocyte nuclear factor-1B (HNF1B, also known as TCF2) is a transcription factor that is involved in renal development, and in the transcription of several genes implicated in other genetic renal diseases. Mutations in HNF1B cause maturity onset diabetes of the young, renal cysts and diabetes syndrome, and some cases of familial juvenile hyperuricaemic nephropathy. They also account for a large proportion of developmental renal disorders included abnormalities detected antenatally. The various abnormalities associated with the gene may occur in isolation or together in the same patient.
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42

Hastie, Nick, and Eve Miller-Hodges. WT1 and its disorders. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0329_update_001.

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Mutations in the Wilms tumour suppressor gene, WT1, are associated with Wilms tumour in childhood. However, in addition WT1 has a key role in renal development, emerging roles in podocyte function, and a potential role in tissue regeneration. An understanding of WT1 is of increasing importance to clinical practice. WT1 is a complex gene with multiple isoforms. It is crucial for normal embryonic development, especially kidney development, where it is necessary for mesenchymal-to-epithelial transition to form the nephron. WT1 mutations lead to abnormalities in renal and genitourinary development, causing diseases such as Denys–Drash syndrome and Frasier syndrome as well as Wilms tumour. Recently, WT1 mutations have been recognized as a significant cause of isolated steroid-resistant nephrotic syndrome in children and young adults, without other associated syndromic features. WT1 continues to be expressed in adult podocytes, where it acts as a transcriptional activator of many podocyte genes. However, the specific role of WT1 in adult podocyte function remains poorly understood.
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43

Merriman, Tony R. The genetic basis of gout. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199668847.003.0040.

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An individual’s risk of gout is determined by a complex relationship between inherited genetic variants and environmental exposures. Genetic variants that control hyperuricaemia and subsequent progression to clinical gout specify pathogenic pathways that could be therapeutically targeted. Genome-wide association studies (GWAS) have provided novel insights into the pathways leading to hyperuricaemia. GWAS have identified the renal uric acid transporter SLC2A9/GLUT9 and the gut excretory molecule ABCG2, which each have very strong genetic effects in the control of urate levels and risk of gout. Histone deacetylase inhibitors are able to correct the genetically-determined ABCG2 dysfunction. Other renal uric acid transporters, such as SLC22A11/OAT4 and SLC22A12/URAT1 have been confirmed to be genetically associated with urate and the risk of gout. Genes that generate urate during glycolysis (e.g. GCKR) are also implicated. In contrast very little is known about genetic variants that control the progression from hyperuricaemia to gout with the toll-like receptor 4 gene being the only gene with replicated evidence of association.
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44

Brahm, Amanda J., and Robert A. Hegele. Monogenic Chylomicronemia: Deficiency of Lipoprotein Lipase and Related Factors. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0033.

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Monogenic chylomicronemia is an autosomal recessive condition characterized by severely elevated fasting triglyceride that carries lifelong elevated risk of developing pancreatitis. The majority of cases are caused by mutations in the LPL gene encoding lipoprotein lipase, the enzyme primarily responsible for chylomicron clearance. Mutations in genes encoding associated proteins (APOC2, APOA5, GPIHBP1 and LMF1) may also present with a very similar phenotype. Current management, which includes restriction of dietary fat intake and standard pharmacologic interventions, has met with limited success, but new therapies under development may prove to be more effective.
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45

Allen, Shelley J. Pathophysiology of Alzheimer’s disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198779803.003.0002.

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We now know that the onset of the pathological processes leading to Alzheimer’s disease (AD) may be 15–20 years before symptoms appear. This focuses attention on synaptic changes and the early role of tau, and less on the hallmark amyloid plaques (Aβ‎) and neurofibrillary tau tangles. Sensitive biomarkers to allow early screening will be essential. Familial autosomal AD is the result of mutations in one of three genes (APP, PSEN1, or PSEN2), each directly related to increased Aβ‎, and informs pathological mechanisms in common sporadic cases, but are also subject to influence by many risk genes and environmental factors. The essential role of apolipoprotein E in neuronal repair and Aβ‎ clearance provides a therapeutic target but also a challenge in carriers of the risk gene APOE4. Current treatments are symptomatic, derived from neurotransmitter deficits seen; particularly cholinergic, but emerging data suggest alternative targets which may prove more productive.
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46

Gorman, Jack M. Life Events Shape Us. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190850128.003.0003.

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Psychiatry downplayed the importance of life events in causing mental illness from the 1960s on, favoring a view that all disorders except one are the result of abnormal genes affecting chemical processes in the brain. Studying the exception, posttraumatic stress disorder (PTSD), when it was defined in 1980 helped lead to renewed recognition that early life adversity is central to all psychiatric conditions. At the same time, neuroscientists showed that early life experiences are capable of changing life-long behavior and brain function in laboratory animals. One mechanism by which this occurs is through the epigenetic regulation of gene expression. Epigenetics is the way that the expression levels of genes are controlled without changing the underlying genetic code. Epigenetics is an attractive way of understanding how individual life experiences are translated in the brain into each person’s unique set of emotions, behaviors, abilities, and risks for psychiatric abnormalities.
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47

Joseph: Overcoming Obstacles Through Faithfulness (Getz, Gene a. Men of Character.). B&H Publishing Group, 1996.

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48

(Foreword), Bill Bright, ed. Samuel: A Lifetime Serving God (Getz, Gene a. Men of Character.). B&H Publishing Group, 1997.

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49

Siebert, Stefan, Sengupta Raj, and Alexander Tsoukas. The genetics of axial spondyloarthritis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198755296.003.0004.

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Family and twin studies have long suggested a large genetic component in ankylosing spondylitis (AS). The genetic association with HLA-B27 remains one of the strongest single gene variant associations reported in any complex polygenic disease. The exact mechanism by which HLA-B27 contributes to AS remains unknown, with three main theories proposed: the arthritogenic peptide, endoplasmic reticulum stress with unfolded protein response, and homodimerization theories. Genome-wide association studies have identified a number of other important susceptibility genes for AS, several of which overlap with other spondyloarthritis conditions. Of these, ERAP1 and IL-23R, are covered in more detail, highlighting their functional importance.
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50

Engelen, Wil. Ik draag geen masker. Leven met brandwondlittekens. Gopher Publishers, 2003.

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