bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gene Finding
Authors: Besemer John , Borodovsky Mark 
Published: November 2023

Abstract
Recent advances in sequencing technology have created an unprecedented opportunity to obtain the complete genomic sequence of any biological species in a short time and at a reasonable cost. Computational gene-finding approaches allow researchers to quickly transform these texts, strings of millions of nucleotides with little obvious meaning, into priceless annotated books of life. Immediately, researchers can start extracting pieces of fundamental knowledge about the species at hand: translated protein products can be characterized and added to protein families; predicted gene sequences can be used in phylogenetic studies; the order of predicted prokaryotic genes can be compared to other genomes to elucidate operon structures; and so on. While software programs for gene finding have reached a high level of accuracy, especially for prokaryotic genomes, they are not designed to replace human experts in the genome annotation process. The programs are extremely useful tools that greatly reduce the time required for sequence annotation, and the overall quality of annotations is improving as the programs become better. This acceleration is becoming a critical issue, as a recent attempt to sequence microbial populations ln masse, rather than individual genomes, produced DNA sequences from over 1800 species including 148 novel phylotypes [1].
Preparing for Success
Authors: Wittry Diane 
Published: November 2023

Abstract
So you have decided that you want to be a conductor. You have probably been in- volved with music for the majority of your life. Most people who study conduct-ing are very well trained in the musical components of the job. It is common to attend college as a music major focusing on a specific instrument, and then to study conducting in a master’s degree program. Even with this extensive prepa-ration, there will still be gaps in your overall knowledge. As you make decisions about your future, understand that the choices you make early on will greatly affect your career path. Here are some of the steps you might consider as you begin your career as a conductor.
Your First Job
Authors: Wittry Diane 
Published: November 2023

Abstract
Once you have finished your formal training in conducting, in order to be a con-ductor, you have to first get a job. As I mentioned at the beginning of the book, “How can you get a job if they require experience?” and “How do you get expe-rience without having a job?” Somehow, you have to figure out how to get your first step on the ladder.
If you have been out there working for a few years, you may want to move into a better position. This also requires applying for jobs. Most people assume that the longer they are in the field, the more experience they will have, and the easier it will be to get the next job.
Utilitarianism, Deontology, and the Priority of Right
Authors: Freeman Samuel 
Published: November 2023

Abstract
This chapter ultimately aims to elucidate the role of an important distinction in moral and political philosophy, that between deontology and teleology. The real issue between teleological and deontological views, I argue, is the appropriateness of the idea of a single rational good in practical deliberation and in the formulation of moral and political principles. Teleologists see one rational good as essential to practical reasoning; without it, moral and political reasoning are often indeterminate and provide no guidance as to what we ought to do. Abandoning a completely rational morality, if we must, is for deontologists an acceptable price to pay to avoid the morally counterintuitive results of teleology; moreover, for Kantians such as Rawls, it is necessary and even desirable in order to provide a secure position for a plurality of intrinsic goods and for political freedom, equality, and individual autonomy.
I. The Issue
It is perhaps a moral truism to say that people ought to do what they can to make the world as good a place as possible. But construed in a certain way this becomes a highly controversial thesis about morality: the right act in any circumstance is one most conducive to the best overall outcome (as ascertained, say, from an impersonal point of view that gives equal weight to the good of everyone). This is consequentialism.1 More simply, it holds that right conduct maximizes the good.
Rawls and Luck Egalitarianism
Authors: Freeman Samuel 
Published: November 2023

Abstract
The position that has come to be called “luck egalitarianism” is endorsed in some fashion by many of the most important contemporary theorists of distributive justice—Ronald Dworkin, G. A. Cohen, John Roemer, Phillippe van Parijs, and Richard Arneson, among others. It often is said that John Rawls commits himself to luck egalitarianism, but that he is inconsistent in its application. In this paper, I examine these claims and criticisms in hopes of showing them to be based in a misunderstanding of Rawls’s account of distributive justice. I proceed from Susan Hurley’s discussion of luck egalitarianism and some remarks she makes regarding Rawls.
The rough idea underlying luck egalitarianism is that in matters of distributive justice, society should try to equalize the effects of brute luck and misfortune in the distribution of the goods that a society effectively controls. Just as a person’s prospects should not be determined by the social class she is born into, so too should a person’s prospects not be determined by the natural talents (or lack thereof) that she has. Instead, the effects of these and other accidents of fortune should be equalized, or at least neutralized, in the distribution of benefits and burdens, for no one is responsible for, and no one deserves, the natural capacities (or handicaps) she is born with. In this regard, luck egalitarianism seems to generalize on the idea of equality of opportunity that is central to liberal and democratic thought. It suggests that if we are to take the idea of equality of opportunity seriously, we need to neutralize as best we can not only the effects of social class but also the effects of the distribution of natural talents and (dis)abilities and other accidents of fortune.
Creating Human-Nonhuman Chimeras in Stem Cell Research
Authors: Cohen Cynthia B 
Published: November 2023

Abstract
Another significant debate about the ethics of stem cell research, besides that swirling around the moral significance of early human embryos, centers on whether human stem cells or their derivatives should be used to create chimeras—in this case, organ- isms that combine human and nonhuman cells. Stem cell investigators have been inserting human embryonic stem cells and specialized human stem cells into animals during the prenatal and postnatal stages of their development to learn how and why human stem cells function in a developing organism. Ultimately, they hope to discern how they might be used therapeutically in humans. Some of this research has met with resistance from some other scientists, ethicists, religious figures, and members of the public who are concerned that novel half-human, half- animal beings might emerge from such research.
Basic Science of Sleep
Authors: Lee-Chiong Teofilo 
Published: November 2023

Abstract
Sleep is a complex rapidly reversible neurologic state that is actively generated by different neuronal systems using several neurotransmitters; it is regulated by homeostatic, circadian, and ultradian influences.
Human existence could be divided, based on behavioral and physiologic criteria, into three distinct states: namely wakefulness, non–rapid eye movement (NREM) sleep, and rapid eye movement (REM) sleep.
Wakefulness is a state in which the person is aware of and responds to sensory input from the environment. Sleep can be defined as a state of behavioral quiescence accompanied by an elevated arousal threshold and a species-specific sleep posture. Behavior characteristic of human sleep includes a typical recumbent sleep posture, closed eyes, and decrease in or absence of movements (Box 1–1).
A comprehensive theory explaining the function of sleep remains elusive. Sleep is believed to be important for facilitation of anabolic processes (restorative theory), regulation of body temperature, immune defense, energy conservation, survival adaptation (protective behavior), removal of “toxins” generated during wakefulness, and promotion of neuronal synaptic plasticity and integrity (eg, brain development, restoration, learning, and memory), and facilitation of overall neuronal function.
Sleep-Related Breathing Disorders
Authors: Lee-Chiong Teofilo 
Published: November 2023

Abstract
Apnea in an adult is defined as the absence of nasal and oral airflow for at least 10 seconds in duration. It is classified as central if respiratory efforts are absent, obstructive if cessation of airflow is noted despite the persistence of respiratory effort, or mixed apnea if it consists of an initial central apnea followed by an ineffectual respiratory effort consistent with obstructive apnea. The definition of hypopnea is less established; a reduction of airflow or amplitude of thoracoabdominal movement by at least 30% from baseline and accompanied by oxyhemoglobin desaturation of 4% or more for at least 10 seconds in duration is commonly used. Apneas and hypopneas share similar mechanisms and adverse physiologic effects, and they are generally considered together when determining disease severity. Definitions of terms used in the discussion of apneas and hypopneas are given in Table 5–1.
Miscellaneous Sleep Disorders
Authors: Lee-Chiong Teofilo 
Published: November 2023

Abstract
This disorder is characterized by recurrent, massive myoclonic jerks involving large muscle groups (ie, entire body, trunk, or extremities) that occur only during sleep (predominantly during quiet sleep) among infants during the first year of life, usually from birth to 6 months of age. The muscle jerks are not associated with arousals or awakenings.
Prevalence is unknown but is believed to be rare. There is no difference between genders. It has a self-limited course, with resolution by 6 months of age in most infants. No specific therapy is necessary. Pathogenesis has been postulated to involve a possible developmental abnormality of the reticular activating system.
Video-electroencephalography (EEG) and electromyography (EMG) monitoring during polysomnography demonstrate muscle activity with a frequency of four to five jerks per second, occurring in clusters lasting 3 to 15 minutes. It is generally observed during non–rapid eye movement (NREM) sleep but can sometimes occur during rapid eye movement (REM) sleep. No seizure activity is present on EEG tracings.
Some Useful Books for the Forensic Linguist’s Library
Authors: Shuy Roger W 
Published: November 2023

Abstract
Forensic linguistics is still a relatively new field, and therefore, it is still reasonably easy to absorb the majority of its literature. The following categorizes the major, relatively recent books available at the time of this writing. Forensic linguists should probably own these books and use them as handy references in their personal libraries. This list does not include the valuable and relevant journal articles or chapters in collected works in the field of linguistics, psychology, sociology, or other disciplines. For such, refer to the comprehensive (but now a bit outdated) bibliography by Judith Levi. Other important, available resources include the forensic linguistics e-mail discussion list, forensiclinguistics@jiscmail.ac.uk, and the indispensable International Journal of Speech, Language and the Law, the publication of the International Association of Forensic Linguistics.
Principles of Differentiation and Morphogenesis
Authors: Gilbert Scott F 
Published: November 2023

Abstract
Developmental biology is the science connecting genetics with anatomy, and it makes sense out of both. Thus, it is the sciencethat connects the inherited genotype with the observable phenotype and that addresses the mechanisms by which the genome speci7es the characteristics of the individual human body. To study human genetics without developmental biology is like studying a culture only by reading its books, and to study anatomy without developmental biology is like visiting a foreign land without knowing its language or history. During the past decade, the basic principles of developmental biology have become known. They cover the following: With few exceptions (e.g., lymphocytes and blood cells) every cell nucleus in the body contains the complete genome established in the fertilized egg. In molecular terms, the DNAs of all differentiated cells within an organism are identical. This was vividly demonstrated when entire mammalian organisms were generated from the nuclei of adult cells transplanted into enucleated oocytes (Wilmut et al., 1997; Kato et al., 1998; Wakayama et al., 1998). Thus, the unused genes in differentiated cells are neither destroyed nor mutated, and they retain the potential for being expressed. Only a small percentage of the genome is expressed in each cell, and a portion of the RNA synthesized in the cell is speci7c for that cell type.
Consequences of the Genome Project for Understanding Development
Authors: Peltonen Leena 
Published: November 2023

Abstract
Our possibilities to characterize the details of development have been transformed by the detailed characterization of the genome landscape of humans and other species. The development of “global” technologies, producing information of alleles and transcript levels of all the genes in one single experiment, has provided us with unprecedented possibilities in identifying molecules and pathways driving development. For improved understanding of human development, the exponentially increasing wealth of information of the genome structure and function of other species has proven extremely important. Numerous details of genes and molecular networks critical for normal development have emerged from experimental studies on species such as nematode and Drosophila, whose genome sequence was established earlier than humans, and on zebra7sh that due to ex utero development of the embryos represents in many ways an ideal system for studying vertebrate embryogenesis. Systematic interruption of individual genes in these model organisms, either using targeted insertion of a transposomal element or targeted interruption of speci7c genes based on the homologous recombination and subsequent detailed monitoring of produced phenotypes, has taken place and the data is exposed on the Web. The parallel process is on-going for the mouse genome; the predicted time table for the completion of the project with all approximately 20,000 mouse genes being individually knocked out is 2009. These resources, including commonly accessible experimental tools such as My strains or mouse embryonic stem (ES) cell lines each carrying a targeted mutant have transformed biological modeling of developmental aberrations and guided our thinking of critical developmental pathways. This wealth of experimental possibilities has resulted in an immense amount of novel information stored in databases. Such massive datasets cannot be properly analyzed without novel statistical and bioinformatics-based analyses. The system biology–based strategies, combining large experimental datasets and advanced biocomputational analyses, are needed to establish a comprehensive view into genes and pathways critical for development.
Development of the Eye
Authors: Rainger Joe , Heyningen, veronica Van , patrick david r. Fitz 
Published: November 2023

Abstract
The development of the vertebrate eye is a remarkable process involving complex morphogenesis and tissue interactions. Although a reasonable body of descriptive data is available for the early developmental anatomy of the human eye, there is a paucity of in situ molecular information as a result of appropriate ethical constraints and the scarcity of relevant biological material. Inevitably much of our knowledge of the mechanisms involved in ocular development comes from animal models. Most aspects of morphogenesis and speci7c molecular mechanisms appear to be conserved among vertebrates. Amphibian (Xenopus laevis), 7sh (Danio rerio and Oryzias latipes), avian (Gallus gallus), and mammalian (Mus musculus) systems have been utilized.
Mira Irons
Authors: Iannaccone Philip 
Published: November 2023

Abstract
The importance of cholesterol metabolism in humans has been recognized for decades. Cholesterol is a major structural component of cell membranes and of myelin. It is also a precursor of bile acids and steroid hormones, including sex steroids, glucocorticoids, mineralocorticoids, neurosteroids, and oxysteroids. While the role of cholesterol in these important biochemical processes has been known for some time, the essential role of cholesterol and the cholesterol metabolic pathway in human development has only been more recently appreciated with the identification of inborn errors of cholesterol metabolism that result in human phenotypes that include structural malformations, as well as growth and mental retardation.
ZIC3, CFC1, ACVR2B, and LEFTY2 and the Visceral Heterotaxies
Authors: Ware Stephanie M , Belmont John W 
Published: November 2023

Abstract
Heterotaxy is a clinical phenotype resulting from a failure to correctly establish left/right (L/R) patterning during embryogenesis. Multiple congenital anomalies may result from discordant positioning of normally asymmetrical internal organs and vasculature. Midline defects and anomalies of paired organs can occur, presumably owing to a failure to correctly segregate left and right. Mutations in three genes that function in the transforming growth factor-β (TGF-β) signaling pathway, Activin receptor type IIB (ACVR2B), the epidermal growth factor-cripto/FRL1/cryptic (EGF-CFC) family member CRYPTIC, and LEFTY2 (LEFTYA, EBAF), have been found in a small number of patients with heterotaxy. Mutations in the zinc finger transcription factor ZIC3 have been described in familial and sporadic cases of heterotaxy, as well as in cases of isolated congenital heart disease (CHD). The degree to which genes involved in L/R patterning may contribute to isolated congenital anomalies as opposed to classic heterotaxy is not currently known, and the incidence of these genetic defects may be underappreciated. A molecular understanding of the important events in the generation of L/R patterning, including TGF-β signaling in the node and left lateral plate mesoderm (LPM) of the gastrulation-stage embryo, is emerging. Studies in mouse, chick, Xenopus, and zebrafish are contributing to the delineation of the developmental pathogenesis of these disorders, as well as identifying candidate genes for further investigation.
EDA, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and the Ectodysplasin Signaling Pathway
Authors: Zonana Jonathan 
Published: November 2023

Abstract
The ectodermal dysplasia syndromes are a group of heterogeneous inherited disorders that display different combinations of congenital defects of the hair, teeth, nails, and sweat glands (Pinheiro and Freire-Maia, 1994). These structures are all appendages derived from oral and epidermal ectoderm, and are formed during development by reciprocal molecular interactions between the epithelium and the mesenchyme (see Chapter 18) (Fuchs and Raghavan, 2002; Courtney et al., 2005; Mou et al., 2006). The pathology seen in these conditions ranges from aplasia or hypoplasia to dysplasia of the affected structures. The defects are secondary to the abnormal induction, proliferation, or differentiation of the epidermal appendages during morphogenesis. The hypohidrotic, or anhidrotic, ectodermal dysplasias (HED or EDA) are a subgroup of the ectodermal dysplasias that have in common significant abnormalities of the eccrine sweat glands, resulting in diminished or lack of sweating (hypohidrosis or anhidrosis) and abnormalities of teeth and hair (Table 42–1). Positional cloning studies in both humans and mice have revealed that the genetic loci responsible for these disorders form a previously unknown developmental pathway. The protein products of each of these loci are expressed in the epithelial cells of the developing teeth, hair follicles, and eccrine sweat glands during embryonic development, and loss of their function results in abnormal morphogenesis.
FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome
Authors: Milunsky Jeff M 
Published: November 2023

Abstract
Lacrimo-Auriculo-Dento-Digital [LADD (MIM 149370)] syndrome is an autosomal dominant multiple congenital anomaly disorder characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies. This disorder is also known as the Levy–Hollister syndrome from the original descriptions (Levy, 1967; Hollister et al., 1973). Aplasia or hypoplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] is also a rare autosomal dominant disorder characterized by xerophthalmia and xerostomia, which lead to conjunctival scarring, severe dental caries, dental erosion, and periodontal disease. LADD syndrome and ALSG appear to represent variable presentations of the same clinical spectrum caused by FGF10 mutations. In addition to FGF10 mutations, LADD syndrome is a genetically heterogeneous disorder with identified mutations in FGFR2 and FGFR3, the genes for binding receptors of FGF10. Hence, LADD syndrome results from the mutations affecting the FGF10 signaling pathway.
JAG1 and NOTCH2 and the Alagille Syndrome
Authors: Spinner Nancy B , Krantz Ian D 
Published: November 2023

Abstract
Alagille syndrome (AGS), also known as syndromic bile duct paucity or arteriohepatic dysplasia, is a multisystem, autosomal dominant, developmental disorder. Alagille et al. &gt;rst reported this syndrome in 1969 with emphasis on the hepatic manifestations. Subsequently, Watson and Miller in 1973 focusing more on the cardiac &gt;ndings described the same entity. In 1975, Alagille et al. formally described the syndrome, which carries his name, and speci&gt;c diagnostic criteria were established. AGS is the most common form of familial cholestatic liver disease. In addition to the liver, AGS is characterized by abnormalities of the heart, eye, and skeleton and a characteristic facial appearance. Renal and neurovascular abnormalities are also common (Alagille et al., 1987; Emerick et al., 1999; Lykaveris et al., 2003; Kamath et al., 2004). The prevalence of AGS has been reported as 1 in 70,000 live births, although this is most likely an underestimate as these patients were ascertained solely on the basis of the &gt;nding of neonatal liver disease (Danks et al., 1977). It was recently demonstrated that only 31% of individuals with a disease-causing mutation have cholestasis, so a revised estimate of the prevalence is closer to 1/20,000 (Kamath et al., 2003). AGS is characterized by highly variable expressivity (Watson and Miller, 1973; Alagille et al., 1987; Krantz et al., 1999; Kamath et al., 2003), and the wide range of phenotypic presentations has been better appreciated since the identication of the disease-causing genes.