bluuebunny/crossref_metadata_2025_split huggingface dataset:
Starting a Practice
Authors: Shuy Roger W 
Published: November 2023

Abstract
Once you have become a linguist and you’ve published enough in your field to be considered an expert, you may sit by your telephone or scroll the inbox of your e-mail looking for invitations to flow in from attorneys. Sorry, it just doesn’t happen that way. Even the few attorneys out there who happen to know what a linguist is probably won’t know who you are. And they might not know how to find you if they did. If they do happen to stumble onto you, they will want to know about your experience in this field. One of the first questions asked of me early in my work was, “Have you ever testified at trial?” For a beginner, this question can end the interview. The lawyer needs somebody who has been there before.
Writing Reports
Authors: Shuy Roger W 
Published: November 2023

Abstract
Once the analysis has been made, the next step in most civil cases usually involves the preparation of a written report, sometimes in the form of an affidavit and sometimes just as a report. The attorney will advise you which form to use. Affidavits are legal documents containing a special format that the attorney will provide, including numbered paragraphs and a space to be notarized. Reports may seem more familiar in format and contain, on the whole, some similarities to conventional academic writing. For example, they begin with the legal question, much like a academic research question, followed by the type of language evidence, the methods used, and the findings. Not found in reports are the long justification statements that academics often write or the common literature review.
SHH and Other Genes and the Holoprosencephaly Malformation Sequence
Authors: Helms Jill A , Brugmann, Samantha , Cordero Dwight R 
Published: November 2023

Abstract
Nature has nowhere created greater morphological diversity nor showed more creativity than in Her elaborations of the vertebrate face. Six billion humans decorate the earth, each of their faces unique and exceptional in its own way. Despite the inherent diversity in facial form, we remain exquisitely aware of even the most subtle craniofacial malformations.
Signaling by TNF and Related Ligands
Authors: Schneider Pascal 
Published: November 2023

Abstract
Members of the tumor necrosis factor receptor superfamily (TNFRSF) engage two main signaling pathways: activation of kinases and transcription factors on the one hand, and caspase activation and cell death on the other hand. Although each of these pathways uses distinct principles of action and unrelated executers, they are highly cross regulated. In this chapter, the function and structural features of ligands and receptors of the TNF and TNFR families are discussed, followed by the description of cell death, mitogen-activated protein kinase (MAPK), and nuclear factor-κB (NF-κB) signaling pathways. The primary (Fig. 41–1) and ternary structures of several proteins involved in these pathways are described. Their site of action and their interaction partners (Fig. 41–2), as well as their function in vivo, also receive special attention.
HOXA1 and the Bosley–Salih–Alorainy and Athabascan Brainstem Dysgenesis Syndromes
Authors: Tischfield Max A , Engle Elizabeth C 
Published: November 2023

Abstract
Homeobox A1 (HOXA1), the 3′ most member in the HOXA gene cluster, encodes a transcription factor that is necessary for catalyzing gene expression pathways important for rostral development of the vertebrate embryo. Two syndromes resulting from homozygous HOXA1 mutations, Bosley–Salih–Alorainy syndrome (BSAS) and Athabascan brain stem dysgenesis syndrome (ABDS), have been discovered in patients from three genetically isolated populations in the Middle East and American southwest. Affected individuals have a pleiotropic spectrum of phenotypes including horizontal gaze abnormalities, facial weakness, deafness, hypoventilation, skull deformities, autism, mental retardation, internal carotid artery (ICA) malformations, and conotruncal heart defects (TischFeld et al., 2005). Although horizontal gaze abnormalities and sensorineural deafness are the most penetrant aspects of the syndrome, the remaining phenotypes demonstrate variable expressivity that may be dependent upon genetic background.
CBP (CREBBP) and the Rubinstein–Taybi Syndrome
Authors: Petrij Fred , Peters Dorien J M , Hennekam, Raoul C M , Giles Rachel H 
Published: November 2023

Abstract
The Rubinstein–Taybi syndrome (RSTS or RTS; OMIM 180849) is caused by de novo occurring heterozygous constitutional muta-tions in the cAMP response element–binding protein (CREB)–binding protein gene (CREBBP or CBP; OMIM 600140). Recently, mutations have also been found in the closely related and highly homologous adenovirus E1A–associated 300 kDa protein gene (EP300 or p300; OMIM 602700). These mutations are presumed to lead to haploinsuf-fi ciency of the CBP or p300 protein. The main clinical features of the syndrome are abnormalities of the face, thumbs, and big toes as well as growth and mental retardation.
ATRX and the X-Linked Thalassemia Mental Retardation Syndrome
Authors: Gibbons Richard J , Wada Takahito 
Published: November 2023

Abstract
The rare association ofthalassemia and mental retardation (MR) was recognized 20 years ago by Weatherall and colleagues (1981). It was known thatthalassemia arises when there is a defect in the synthesis of theglobin chains of adult hemoglobin (HbA, 2). When these authors encountered three mentally retarded children withthalassemia and a variety of developmental abnormalities, their interest was stimulated by the unusual nature of thethalassemia. The children were of northern European origin, wherethalassemia is uncommon, and although one would have expected to find clear signs of this inherited anemia in their parents, it appeared to have arisen de novo in the affected offspring. It was thought that the combination ofthalassemia MR (ATR), and the associated developmental abnormalities represented a new syndrome and that a common genetic defect might be responsible for the diverse clinical manifestations. This conjecture has been confirmed, and what has emerged is the identifi cation of two quite distinct syndromes: ATR-16, a contiguous gene syndrome, and X-linked ATR (ATR-X), which results from mutation of a chromatin remodeling factor.
ZIC1 and ZIC4 and Dandy–Walker Malformation
Authors: Millen Kathleen J , Grinberg Inessa , Blank, Marissa , Dobyns William B 
Published: November 2023

Abstract
Dandy–Walker malformation (DWM) is the most common congenital malformation of the human cerebellum (Parisi and Dobyns, 2003), first described in 1887 (Sutton, 1887). Despite its clinical importance and long history, the genetic and developmental causes are only now beginning to be elucidated. The first DWM causative genes were recently identified by physical mapping of interstitial deletions of chromosome 3q24 in several DWM patients (Grinberg et al., 2004). This region encompasses the adjacent ZIC1 and ZIC4 genes, important members of the small zinc Knger in cerebellum family of transcription factors. Mice with heterozygous deletion of the orthologs of these two linked transcription factors have a phenotype that closely resembles human DWM, supporting the conclusion that heterozygous loss of ZIC1 and ZIC4 causes DWM. The mutant mice also provide the first model to delineate the pathogenesis of this important brain malformation.
MKS Genes and the Meckel Syndrome
Authors: Kestilä Marjo , Peltonen Leena 
Published: November 2023

Abstract
The Meckel syndrome (or Meckel–Gruber syndrome, MKS, MIM 249000) is a severe fetal developmental disorder that leads to death in utero or soon after birth. The main features of MKS are occipital menin- goencephalocele, cystic kidney dysplasia, polydactyly, and 2brotic changes of the liver (Mecke and Passarge, 1971; Salonen, 1984). MKS is diagnosed worldwide, but incidences vary signi2cantly between populations. The genome scans for the locus of this recessive disease have so far exposed locus heterogeneity with at least three MKS loci. The under- lying genes for two of the MKS loci have been recently identi2ed: MKS1 gene on 17q23 (Kyttälä et al., 2006) and the MKS3 gene on 8q22 (Smith et al., 2006). The gene on the MKS2 locus on 11q13 (Roume et al., 1998) remains unknown. The preliminary data of the MKS1 and MKS3 poly- peptides imply their roles in the cilial functions, linking speci2c molecular components of cilia with early human development and making MKS the ciliopathy with exceptional severity and very early onset (Dawe et al., 2007; Kyttälä et al., 2006; Smith et al., 2006).
Inborn Defects of Membrane Trafficking
Authors: Ikonen Elina 
Published: November 2023

Abstract
This chapter provides a general introduction to the protein machineries of cellular membrane trafficking and lists 30 human diseases in which defects of these protein components have been discovered as the underlying cause. The disorders have been grouped into three categories: (1) those defective in sorting of cargo into transport carriers, vesicle budding, and scission, (2) those with defective movement of vesicles along cytoskeletal tracks, and (3) those defective in vesicle tethering, docking, and fusion at the target membrane. Eighteen of these diseases are discussed in some more detail, with the sites of the defects schematically illustrated. The number of membrane traf2cking diseases is steadily increasing and evidently, the present account is not comprehensive. Here, the focus is on diseases studied most at the cell biological level. They provide examples of how the study of intracellular membrane traf2cking has given a framework to understand the disease pathology and vice versa, how analysis of the gene defects deepens our understanding of the physiology of intracellular membrane transport processes. Finally, some of the lessons learned so far from studying human inborn errors of membrane traf2cking are discussed.
ADAMTS10 and the Weill–Marchesani Syndrome
Authors: Goff Carine Le , Dagoneau, Nathalie , Cormier-Daire Valérie 
Published: November 2023

Abstract
Weill–Marchesani syndrome (WMS) isararedisorder characterized by short stature, short and stubby hands and feet, stiff joints, and dislocation of microspherophakic lens. Despite clinical homogeneity, autosomal dominant (AD) and autosomal recessive (AR) modes of inheritance have been reported. Using an homozygosity mapping strategy in two consanguineous WMS families, we localized the gene responsible for the AR form of WMS on chromosome 19p13.3. We then identified three distinct mutations in the ADAMTS10 [A Disintegrin-like And Metalloproteinase domain (reprolysin type) with ThromboSpondin type 1 repeats] gene in these two families and in one sporadic WMS case. ADAMTS proteins have been involved in various human pro- cesses and are all characterized by an ancillary domain and a catalytic domain. However, the function of ADAMTS10 is yet unknown.
NR0B1 (DAX1) and X-linked Adrenal Hypoplasia Congenita and XY Sex Reversal
Authors: Vilain Eric , Mccabe Edward R B 
Published: November 2023

Abstract
DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia congenita critical region on the X chromosome, gene 1) is the nuclear receptor protein encoded by the gene NR0B1, which maps to Xp21 (McCabe, 2001a; Phelan and McCabe, 2001). It is an unusual member of the nuclear receptor superfamily. DAX1 is similar in sequence in its C-terminal portion to that of the typical ligand-binding domain (LBD) of other members of the superfamily (Zanaria et al., 1994; Guo et al., 1995b; Burris et al., 1996). The N-terminal portion of DAX1 is composed of 3.5 amino acid repeats and is similar to only one other superfamily member, short heterodimer partner (SHP), encoded by NR0B2, which contains only one of these repeats (Seol et al., 1996; Nuclear Receptor Nomenclature Committee, 1999;
KIAA1279 and Goldberg–Shprintzen Syndrome
Authors: Brooks Alice S , Hofstra Robert M W 
Published: November 2023

Abstract
Goldberg–Shprintzen syndrome or Goldberg–Shprintzen megacolon syndrome (GOSHS) (MIM 609460) is a rare autosomal recessive syndrome with only seven families described in the literature (Goldberg et al., 1981; Hurst et al., 1988; Kumasaka et al., 1988; Yomo et al., 1991; Fryer, 1998; Brooks et al., 1999; Murphy et al., 2006). GOSHS is best characterized as a Hirschsprung dis- ease–mental retardation–microcephaly syndrome. Distinctive associated facial features include high-arched eyebrows, synophrys, hypertelorism, cleft palate/bifid uvula, and clouding of the cornea related to a primary hypesthesia of the cornea. Furthermore, an occasional patient with GOSHS is diagnosed with a congenital heart defect, or develops a progressive scoliosis starting in late childhood or early adolescence. Most patients with documented brain magnetic resonance imaging (MRI) were diagnosed with bilateral generalized polymicrogyria, and this clinical feature might be a key feature of GOSHS. We identified the gene causing GOSHS as KIAA1279, a gene located at 10q22.1 and encoding a hypothetical protein with two tetratricopeptide repeats (TPRs), as GOSHS patients proved to have inactivating KIAA1279 mutations (Brooks et al., 2005). The intracellular location of KIAA1279 or KIF1 binding protein (KBP) in mitochondria and its interaction with KIF1Bα might suggest a role of KIAA1279 in mitochondrial distribution in cells (Wozniak et al., 2005).
AGGF1 and the Klippel–Trenaunay Syndrome
Authors: Amini Mohammed Reza , Wang Qing K 
Published: November 2023

Abstract
Klippel–Trenaunay syndrome (KTS) is a congenital anomaly characterized by capillary malformations (CMs), venous malformations or varicose veins, and hypertrophy of the affected tissues. Evaluation of KTS patients is mainly based on noninvasive imaging studies including plain radiography, color duplex ultrasonography, magnetic resonance imaging (MRI), and lymphoscintigraphy. KTS is a sporadic disorder, which makes genetic studies of KTS challenging. Three chromosomal abnormalities were reported in three different KTS patients: two balanced translocations, t(5;11)(q13.3;p15.1) and t(8;14)(q22.3;q13) (de novo), and an extra supernumerary ring chromo- some 18 (de novo). Molecular genetic analysis of the t(5;11) translocation cloned the AGGF1 gene at the chromosome 5q13.3 breakpoint that is associated with KTS. AGGF1 encodes the angiogenic factor with G-patch, and forkhead-associated (FHA) domains 1 and its variant, E133K, were significantly associated with risk of KTS in one Caucasian population (P = 0.009).
Fire!
Authors: Hayes Kevin J 
Published: November 2023

Abstract
Fire! The word struck fear into every homeowner in colonial America. In a land where homes were shingled with wood, heated by wood, and lit with candles, fires were inevitable. All a person could do was to take some modest precautions and then try not to worry about the damage an errant spark might cause. There is no evidence to indicate that Thomas Jefferson, the youthful master of the family plantation in the Virginia Piedmont known as Shadwell, was worried about the mansion house there when he left home one February afternoon in 1770 to conduct some business in nearby Charlottesville. Already he had been master of Shadwell for half his life, since the death of his father, Peter Jefferson, thirteen years earlier. Having left the property countless times before, occasionally for months at a stretch, he had no reason to be more concerned this day than any other.
Why Integrative Oncology?
Authors: Weil Andrew T 
Published: November 2023

Abstract
Integrative medicine (IM) is an established movement in North America and China. It is a developing movement in parts of the Middle East and continental Europe, especially Scandinavia. I am conndent that it is the direction medicine and health care must take to address demands from patients, dissatisfaction of practitioners, and the worsening economics of health care worldwide.
Cannabinoids and Cancer
Authors: Abrams Donald I , Guzman Manuel 
Published: November 2023

Abstract
Cannabis has been used in medicine for thousands of years before achieving its current status as an illicit substance. Cannabinoids, the active components of Cannabis sativa, mimic the effects of the endogenous cannabinoids (the so-called endocannabinoids), activating specific cannabinoid receptors, particularly cannabinoid receptor type 1 (CB1) found predominantly in the central nervous system and cannabinoid receptor type 2 (CB2) found in cells involved with immune function. Delta-9-tetrahydrocannabinol, the main psychoactive cannabinoid in the plant, has been available as a prescription medication approved for chemotherapy-induced nausea and vomiting and treatment of anorexia associated with the AIDS wasting syndrome.
Massage Therapy
Authors: Corbin Lisa w. 
Published: November 2023

Abstract
Patients with cancer often suffer physical symptoms and psycho- logical stress. Massage therapy, widely used by healthy people for relaxation, may have other specific benefits for patients in all stages of cancer treatment. the use of massage therapy, with specific precautions in certain situations, is safe for patients with cancer. ere are few large, well-designed trials of massage therapy for patients with cancer; existing research suggests the most benefits for lymphedema and anxiety.
Natural Impediments To Making Valid Inferences
Authors: Bausell R Barker 
Published: November 2023

Abstract
There are a lot of people out there who believe that they are being helped by CAM therapies. There are even a lot of people who believe that diluted cuttlefish discharge has potent curative powers. So if there are tens of millions of people in the United States alone (and probably hundreds of millions worldwide) who have used CAM therapies and believe them to be effective, why consider what science has to say about this issue? Framed from a slightly different perspective: if the majority of the human race (along with generations of their grandparents) believes that therapies such as acupuncture, chiropractic manipulation, and homeopathy can relieve pain and cure disease, would anyone questioning such a judgment also have to question the intelligence of his species? The answer is definitely no. Instead, we should question what influences our thought processes. To decide whether something is effective or not requires us to engage in an extremely complex (and quintessentially human) activity involving the generation of correct causal inferences. And this is exactly what we automatically and unconsciously do every time we visit a health practitioner of any sort (or self-medicate ourselves, or place crystals in the window, or wear magnets or ionized bracelets) to achieve relief from noxious symptoms.
What High-Quality Trials Reveal About Cam
Authors: Bausell R Barker 
Published: November 2023

Abstract
We are now ready to examine the evidence regarding whether CAM therapies are capable of producing health benefits over and above those that can be attributed to the placebo effect. This is a much more daunting task than it appears on the surface because of the number of clinical trials that have been conducted and the difficulties involved in sorting out the CAM studies. As of the end of 2002, for example, there were more than 350,000 published trials in one research registry alone, with several thousand more being added each year.
The Future of Psychiatry
Authors: Paris Joel 
Published: November 2023

Abstract
Psychiatry has gone from one extreme to another throughout its history. At one time it was famous for promoting fantastic psychological theories that had no basis in science. Many psychiatrists were spending their careers conducting office practices, providing psychotherapy to patients who were unhappy but not ill—the so-called worried well. These practitioners did little hospital work, rarely prescribed drugs, and used little medical knowledge.
One Tree of Life
Authors: Kitcher Philip 
Published: November 2023

Abstract
On the advice of his Cambridge mentor, John Henslow, Darwin chose the recently published first volume of Charles Lyell’s Principles of Geology, a magisterial development of understanding the earth’s past in terms of forces observable in the present, an account that summarized and extended the new orthodoxy that had replaced Genesis, as one of the few books to take on the voyage of the Beagle. Later, when the Beagle docked for the second time in Montevideo, Darwin received a copy of Lyell’s second volume, devoted to the issue of whether the succession of organisms whose remains were found in the rocks testified to some process of “transmutation,” or whether it represented episodes of successive creation and extinction. Lyell argued against the relatedness of living things, opting instead for the idea of periodic creation, a process he candidly described as the “mystery of mysteries.”
Lewis’s Last Days
Authors: Coffey Patrick 
Published: November 2023

Abstract
After Gilbert Lewis finished working on acids and bases in 1938, his laboratory was full of the organic dyes that had been used as colorimetric indicators of acidity—many dyes have one color in an acidic solution and another in a basic solution. Lewis had been fascinated with the idea of color for years. His first publication on color had been in 1906, and in his 1916 paper “The Atom and the Molecule,” he had portrayed the electron pair as central to the color of chemical compounds. For Lewis, color was the result of the interaction of light with chemicals, shifting a molecule from one electronic state to another, with light absorbed or emitted at a frequency that was equivalent to the difference between the energy levels of the starting and ending states—this became known as “photochemistry.” In 1939 Lewis and Melvin Calvin, then a junior faculty member at Berkeley, published a theory of color.2 Robert Connick remembers the two of them working together: “I remember that Lewis and Calvin were working on color, and there was a seminar room in Gilman Hall with a long table in the back of it. I walked in and he and Calvin had thirty books on the table, all open, and Lewis was walking around, moving from one to another, stopping to look at one article and then the next. He was trying to get into his mind where the color was coming from.”3 Because it was impossible to perform detailed quantum chemical calculations before the age of computers, Lewis and Calvin were forced to approximate.
The Concept of Intentional Action:A Case Study in the Uses of Folk Psychology
Authors: Knobe Joshua 
Published: November 2023

Abstract
The twentieth century saw the rise of a new discipline that we might call scientific psychology. Practitioners of this new discipline develop detailed theories, conduct systematic experiments, and publish their results in academic journals. But long before the rise of scientific psychology, people had ways of making sense of the goings-on in each other’s minds. These ordinary ways of understanding the mind did not involve any detailed theories or systematic experiments, but they constituted a kind of psychology all the same. This ordinary, everyday psychology was expressed in sentences like: ‘She is feeling angry.’ ‘He wishes he could go.’ ‘They think that it is going to rain.’ The basic conceptual framework underlying these sorts of everyday psychological ascriptions is usually known as folk psychology.