bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
Authors: Plaisancié Julie , Bailleul‐Forestier Isabelle , Gaston Véronique , Vaysse Fréderic , Lacombe Didier , Holder‐Espinasse Muriel , Abramowicz Marc , Coubes Christine , Plessis Ghislaine , Faivre Laurence , Demeer Bénédicte , Vincent‐Delorme Catherine , Dollfus Hélène , Sigaudy Sabine , Guillén‐Navarro Encarna , Verloes Alain , Jonveaux Philippe , Martin‐Coignard Dominique , Colin Estelle , Bieth Eric , Calvas Patrick , Chassaing Nicolas 
Published: February 2013

AbstractEctodermal dysplasias (ED) are a clinically and genetically heterogeneous group of hereditary disorders that have in common abnormal development of ectodermal derivatives. Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of eccrine sweat glands, hair, and teeth. The X‐linked form of the disease, caused by mutations in the EDA gene, represents the majority of patients with the hypohidrotic form. Autosomal dominant and autosomal recessive forms are occasionally seen, and result from mutations in at least three genes (WNT10A, EDAR, or more rarely EDARADD). We have screened for mutations in EDAR (commonly involved in the hypohidrotic form) and WNT10A (involved in a wide spectrum of ED and in isolated hypodontia) in a cohort of 36 patients referred for EDA molecular screening, which failed to identify any mutation. We identified eight EDAR mutations in five patients (two with homozygous mutations, one with compound heterozygous mutations, and two with heterozygous mutation), four of which were novel variants. We identified 28 WNT10A mutations in 16 patients (5 with homozygous mutations, 7 with compound heterozygous mutations, and 4 with heterozygous mutations), seven of which were novel variants. Our study allows a more precise definition of the phenotypic spectrum associated with EDAR and WNT10A mutations and underlines the importance of the implication of WNT10A among patients with ED. © 2013 Wiley Periodicals, Inc.
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria
Authors: Plotkin Scott R. , Blakeley Jaishri O. , Evans D. Gareth , Hanemann C. Oliver , Hulsebos Theo J.M. , Hunter‐Schaedle Kim , Kalpana Ganjam V. , Korf Bruce , Messiaen Ludwine , Papi Laura , Ratner Nancy , Sherman Larry S. , Smith Miriam J. , Stemmer‐Rachamimov Anat O. , Vitte Jeremie , Giovannini Marco 
Published: February 2013

AbstractSchwannomatosis is the third major form of neurofibromatosis and is characterized by the development of multiple schwannomas in the absence of bilateral vestibular schwannomas. The 2011 Schwannomatosis Update was organized by the Children's Tumor Foundation (www.ctf.org) and held in Los Angeles, CA, from June 5–8, 2011. This article summarizes the highlights presented at the Conference and represents the “state‐of‐the‐field” in 2011. Genetic studies indicate that constitutional mutations in the SMARCB1 tumor suppressor gene occur in 40–50% of familial cases and in 8–10% of sporadic cases of schwannomatosis. Tumorigenesis is thought to occur through a four‐hit, three‐step model, beginning with a germline mutation in SMARCB1 (hit 1), followed by loss of a portion of chromosome 22 that contains the second SMARCB1 allele and one NF2 allele (hits 2 and 3), followed by mutation of the remaining wild‐type NF2 allele (hit 4). Insights from research on HIV and pediatric rhabdoid tumors have shed light on potential molecular pathways that are dysregulated in schwannomatosis‐related schwannomas. Mouse models of schwannomatosis have been developed and promise to further expand our understanding of tumorigenesis and the tumor microenvironment. Clinical reports have described the occurrence of intracranial meningiomas in schwannomatosis patients and in families with germline SMARCB1 mutations. The authors propose updated diagnostic criteria to incorporate new clinical and genetic findings since 2005. In the next 5 years, the authors expect that advances in basic research in the pathogenesis of schwannomatosis will lead toward clinical investigations of potential drug therapies. © 2013 Wiley Periodicals, Inc.
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants
Authors: D'Angelo Carla Sustek , Kohl Ilana , Varela Monica Castro , de Castro Cláudia Irene Emílio , Kim Chong Ae , Bertola Débora Romeo , Lourenço Charles Marques , Perez Ana Beatriz Alvarez , Koiffmann Celia Priszkulnik 
Published: February 2013

AbstractObesity is a major threat to public health worldwide, and there is now mounting evidence favoring a role for the central nervous system (CNS) in weight control. A causal relationship has been recognized in both monogenic (e.g., BDNF, TRKB, and SIM1 deficiencies) and syndromic forms of obesity [e.g., Prader–Willi syndrome (PWS)]. Syndromic obesity arising from chromosomal abnormalities, that typically also affect learning and development, are often associated with congenital malformations and behavioral characteristics. We report on nine unrelated patients with a diagnosis of learning disability and/or developmental delay (DD) in addition to obesity that were found to have copy number variants (CNVs) by single nucleotide polymorphism array‐based analysis. Each patient also had a distinct and complex phenotype, and most had hypotonia and other neuroendocrine issues, such as hyperphagia and hypogonadism. Molecular and clinical characterization of these patients enabled us to determine with confidence that the CNVs we observed were pathogenic or likely to be pathogenic. Overall, the CNVs reported here encompassed a candidate gene or region (e.g., SIM1) that has been reported in patients associating obesity and DD and/or intellectual disability (ID) and novel candidate genes and regions. © 2013 Wiley Periodicals, Inc.
Hearing from parents: The impact of receiving the diagnosis of Williams syndrome in their child
Authors: Waxler Jessica L. , Cherniske Elizabeth M. , Dieter Kristen , Herd Pamela , Pober Barbara R. 
Published: February 2013

AbstractHealthcare providers often share difficult or life‐altering news with their patients yet this challenging and delicate process is frequently met with dissatisfaction by those receiving this news. Articles and guidelines exist to aid providers in sharing diagnoses such as Down syndrome, but relatively few have focused on rare genetic conditions often diagnosed years after birth. For this reason, we sought to learn about the experience of receiving a diagnosis from parents of children with Williams syndrome. We asked members of the Williams Syndrome Association to complete an anonymous online survey about recollections related to the diagnostic process. Responses, both close‐ended and open‐ended, were received from 600 families across the United States. Analysis revealed a high proportion of families (59.91%) with at least some negative recollections about the experience (and nearly half of those with negative recollections denied recalling anything positive). Factors influencing a more positive overall perception of the experience included receiving written information about Williams syndrome and seeing a genetic counselor. Analysis of open‐ended responses identified additional positive and negative themes; for example, nearly one quarter of respondents expressed a desire to be given hope when receiving the diagnosis. Based on these analyses, we offer several specific recommendations for improving the diagnostic process in the future. © 2013 Wiley Periodicals, Inc.
Genetics professionals' perspectives on reporting incidental findings from clinical genome‐wide sequencing
Authors: Lohn Zoe , Adam Shelin , Birch Patricia , Townsend Anne , Friedman Jan 
Published: February 2013

AbstractWhole exome or whole genome analysis using massively parallel sequencing technologies will undoubtedly solve diagnostic dilemmas; however, incidental findings (IF) that may have medical and social implications will also be discovered. While there is consensus in the literature that analytically valid and medically actionable IF should be returned to patients if requested, there is debate regarding the return of other IF. There are currently no guidelines established for managing IF in the clinical context. We therefore distributed an online questionnaire to 496 geneticists and genetic counselors in Canada to explore this unresolved issue, and 210 professionals participated (response rate = 42%). The proportion of respondents who indicated that they would return IF to patients depended on the nature of the finding, ranging from 95% for information pertaining to a serious and treatable condition to 12% for information with only social implications (e.g., non‐paternity). There was a lack of consensus around the disclosure of certain IF such as genetic carrier status, especially for pediatric patients. The most important considerations identified as impacting IF disclosure included condition‐specific factors such as treatment availability, test accuracy, and evidence indicating pathogenicity. This is the first study to document the views of geneticists and genetic counselors in Canada towards the disclosure of IF, and represents a step towards evidence‐based guidelines for clinical genome‐wide sequencing investigations. © 2013 Wiley Periodicals, Inc.
Steroid‐independent upregulation of matrix metalloproteinase 9 in chronic rhinosinusitis patients with radiographic evidence of osteitis
Authors: Detwiller Kara Y. , Smith Timothy L. , Mace Jess C. , Trune Dennis R. , Sautter Nathan B. 
Published: February 2013

BackgroundChronic sinonasal inflammation is associated with tissue remodeling, such as osteitis, which may be a marker of refractory disease; however, the pathophysiology of osteitis in chronic rhinosinusitis (CRS) is insufficiently understood.MethodsEthmoid mucosa and bone samples were obtained from 35 medically refractory CRS patients and 9 control subjects. Quantitative real‐time polymerase chain reaction (RT‐PCR) was performed separately on bone and mucosa for matrix metalloproteinase 2 and 9 (MMP2, MMP9) and tissue inhibitor of matrix metalloproteinase 1 (TIMP1). Osteitis was classified as mild, moderate, or severe by measuring bone thickness of the maxillary, sphenoid, and ethmoid sinuses on multiplanar computed tomography (CT). Patients were classified based on severity of osteitis and compared to controls.ResultsNine patients demonstrated radiographic evidence of osteitis (mild = 3, moderate/severe = 6). Bone PCR revealed biologically significant upregulation of MMP9 in all patients with CRS, but the magnitude of the upregulation decreased with severity of osteitis. Mucosa PCR showed upregulation of MMP9 in moderate/severe osteitis only. No significant changes were seen in MMP2 or TIMP1 regulation.ConclusionThis is the first study to evaluate the role of MMP in the bone and mucosa of patients with sinonasal osteitis. The pattern of expression suggests there may be a time‐ and tissue‐dependent role for MMP9 in the pathophysiology of osteitis. In addition, MMP9 overexpression is seen despite preoperative oral and intranasal steroid use, suggesting that if MMP9 is an important factor in the development of osteitis then steroids may not be the best treatment in prevention of osteitis.
Mikroplastik – ein unsichtbarer Störenfried
Authors: Holm Patricia , Schulz Gerhard , Athanasopulu Kiriaki 
Published: February 2013

AbstractPlastik wird heute in großen Mengen produziert und für viele Zwecke eingesetzt. Am Ende der Verwendung gelangt ein großer Teil davon in die Umwelt, oftmals auch ins Meer. Dort wird es in kleinste Bruchstücke fragmentiert, so genanntes Mikroplastik, und kann von Strudlern, Filtrierern und Benthosfressern als vermeintliche Nahrung aufgenommen werden. Wir zeigen, dass Mikroplastik‐Partikel von Pantoffeltierchen, Wasserflohkrebsen und Miesmuscheln aufgenommen werden. In den Muscheln konnten wir zudem nachweisen, dass die Plastikpartikel bis in die Zellen der Mitteldarmdrüsen gelangen und dort pathologische Reaktionen nach sich ziehen. Mikroplastik ist nicht nur problematisch, da die Tiere keinen Nährwert aus dem Plastik ziehen und mit vollem Magen verhungern können, sondern auch weil scharfe Kanten der Plastikteile die Darmschleimhäute der Tiere verletzen können. Zudem lagern sich persistente Schadstoffe, die nachteilige Effekte, z.B. auf die Fortpflanzung haben können, leicht an Plastik an. Im Artikel werden Lösungsmöglichkeiten skizziert und Organisationen genannt, die sich des Problems annehmen.
Vom Phänotyp zum Genotyp
Authors: Hiller Michael 
Published: February 2013

AbstractTrotz der Sequenzierung der Genome vieler Spezies wissen wir nur sehr wenig darüber, welche Änderungen in der DNA für die vielen phänotypischen Unterschiede zwischen Spezies verantwortlich sind. Der Hauptgrund ist, dass es sowohl viele genomische als auch phänotypische Unterschiede gibt. Eine neue Methode der vergleichenden Genomik versucht diese Frage für Phänotypen zu beantworten, welche in unabhängigen Abstammungslinien verlorengegangen sind. Dazu sucht man nach genomischen Regionen, die in den Spezies, wo der Phänotyp fehlt, eine größere Anzahl an Mutationen haben. Die Sequenzierung von tausenden neuen Genomen in naher Zukunft wird es möglich machen, mit Hilfe der vergleichenden Genomik systematisch nach den DNA‐Unterschieden zu suchen, welche mit phänotypischen Unterschieden assoziiert sind.
Therapie mit Stammzellen
Authors: Müller Werner 
Published: February 2013

AbstractIn diesem Artikel wird das System zur laufenden Erneuerung der Blut‐ und Immunzellen vorgestellt und auf Erfolge der Stammzellentherapie bei der Heilung von Leukämien und malignen Lymphomen hingewiesen. Auf unterschiedlichen HLA‐Typen beruhende Gewebeunverträglichkeiten zwischen Empfängern und Spendern setzen solchen Therapien enge Grenzen. Ob durch bloße Infusion von Stammzellen auch andere Krankheiten, beispielsweise Parkinson, geheilt werden könnten, ist derzeit fraglich.
Heterosis: Maishybride exprimieren mehr Gene als ihre Eltern
Authors: Hochholdinger Frank , Paschold Anja , Marcon Caroline 
Published: February 2013

AbstractDie molekularen Grundlagen der Überlegenheit von Hybriden im Vergleich zu ihren reinerbigen Eltern, welche als Heterosis bezeichnet wird, sind bislang nur unzureichend verstanden. In einer neuen Studie konnte gezeigt werden, dass Maishybride einige hundert Gene mehr exprimieren als ihre Eltern. Dies könnte ein Ansatz zur gezielten Vorauswahl geeigneter Maislinien in der Züchtung bieten und so auf lange Sicht Zeit und Kosten sparen.
Traumata im Kindesalter führen zu epigenetischen Veränderungen bei Risikogruppen
Authors: Klengel Torsten 
Published: February 2013

AbstractDas Risiko, an einer psychischen Erkrankung zu leiden, ist das Resultat des Zusammenspiels zwischen einer genetischen Veranlagung und vielfältigen Umweltfaktoren. Was so einleuchtend klingt und durch epidemiologische Studien unterstützt wird, konnte nun im Fall von traumatisierten Kindern durch einen molekularen Mechanismus erklärt werden.
Biologielernen außerhalb der Schule
Authors: Scheersoi Annette 
Published: February 2013

AbstractDas Angebot ist groß – die Biologie ist zum Greifen nah: Zoos, Botanische Gärten und Museen bieten Einblicke in die Tier‐ und Pflanzenwelt und ermöglichen vielen Menschen den unmittelbaren Kontakt mit biologischen Phänomenen. Science Center laden dazu ein, mit spektakulären Experimenten die Naturwissenschaften zu entdecken. Aber tragen diese Angebote wirklich zum gewünschten “Public understanding of Science” bei? Sind sie in der Lage, das Interesse der Besucher für Biologie zu wecken und grundlegende Inhalte zu vermitteln?
Netzwerk zur Stärkung einer biobasierten Wirtschaft
Authors: Saningong Akuma 
Published: February 2013

AbstractDie effiziente und nachhaltige Nutzung von Biomasse ist als Instrument zur Bewältigung der von der Bundesregierung angestrebten Energiewende kaum wegzudenken. Das Schlagwort der Stunde, die “Bioökonomie”, sieht die Verknüpfung von Ökonomie und Ökologie vor. Hierbei werden keine fossilen Ressourcen verbraucht, sondern Biomasse aus Pflanzen, Tieren und Mikroorganismen zur Herstellung von Nahrung, Materialien und Energie genutzt. Das Netzwerk “biomastec” will mit diesem Thema befasste Unternehmen und die Forschung besser miteinander vernetzen.
Die Dot‐Blot‐Technik
Authors: Hauk Andrea 
Published: February 2013

AbstractDie Übertragung von Nukleinsäuren oder Proteinen auf eine Trägermembran wird im Labor durch die Anfertigung eines “Blots” durchgeführt. Die Dotblot‐Technik kann hierbei als eine Art “Schnelltest” eingesetzt werden. DNA, RNA oder auch Proteinproben werden ohne vorherige Gelelektrophorese auf eine Membran übertragen und anschließend detektiert. Die zu untersuchenden Proben werden punktförmig (engl. dot = Punkt / Fleck) auf einen Träger aufgetropft. Analog zur Southern‐, Northern‐ oder Western‐Blot‐Technik wird geprüft, ob die gesuchten DNA‐ oder RNA‐Sequenzen oder Proteine in der Probe vorhanden sind.
Widening and Wandering the Short Road to Success: The Louisiana Transfer Degree Guarantee
Authors: Cope Kevin L. 
Published: February 2013

AbstractThis chapter analyzes the complex and often surprising process by which Louisiana, a small state with four higher education systems, deployed a transfer degree program in a scant two years. The author reviews the full range of challenges, from social to curricular to promotional, that were overcome and makes recommendations concerning the development of transfer degree programs under both normal and extreme or unusual circumstances.
Faculty Reflections on Implementing Associate Degrees for Transfer in California
Authors: Patton Jane , Pilati Michelle 
Published: February 2013

AbstractThis chapter describes how California Community College and California State University faculty developed a system for implementing associate degrees for transfer that has the potential to simplify transfer and decrease unit accumulation. This intersegmental, faculty‐led system provides a mechanism for maintaining local control of curriculum, while identifying curricular commonalities that can ultimately facilitate student movement within and between higher education segments in California.
Putting the Pieces Together and Asking the Hard Questions: Transfer Associate Degrees in Perspective
Authors: Wagoner Richard L. , Kisker Carrie B. 
Published: February 2013

AbstractThis chapter synthesizes information from the volume; suggests a state‐level model organizational structure for implementing transfer associate degrees; describes the interests and values of the major constituencies in systemic transfer reforms; and offers a view to the future, including potential areas of concern.
Dynamics of oscillators coupled by a medium with adaptive impact
Authors: Daneshvar Roozbeh 
Published: February 2013

AbstractIn this article, we study the dynamics of coupled oscillators. We use mechanical metronomes that are placed over a rigid base. The base moves by a motor in a one‐dimensional direction and the movements of the base follow some functions of the phases of the metronomes (in other words, it is controlled to move according to a provided function). Because of the motor and the feedback, the phases of the metronomes affect the movements of the base, whereas on the other hand, when the base moves, it affects the phases of the metronomes in return. For a simple function for the base movement (such asy= γx[rθ1+ (1 −r)θ2] in whichyis the velocity of the base, γxis a multiplier,ris a proportion, and θ1and θ2are phases of the metronomes), we show the effects on the dynamics of the oscillators. Then, we study how this function changes in time when its parameters adapt by a feedback. By numerical simulations and experimental tests, we show that the dynamic of the set of oscillators and the base tends to evolve towards a certain region. This region is close to a transition in dynamics of the oscillators, where more frequencies start to appear in the frequency spectra of the phases of the metronomes. We interpret this as an adaptation towards the edge of chaos.
Organoruthenium‐Containing Heteropoly‐23‐Tungstate Family [{Ru(L)}2(α‐XW11O39)2WO2]m– (L = benzene, p‐cymene; X = GeIV, SiIV, m = 10; BIII, m = 12)
Authors: Nsouli Nadeen H. , Chubarova Elena V. , Al‐Oweini Rami , Bassil Bassem S. , Sadakane Masahiro , Kortz Ulrich 
Published: February 2013

AbstractA family of {Ru(arene)}2+‐containing heteropolytungstates of general formula [{Ru(L)}2(α‐XW11O39)2WO2]m– (L = benzene, p‐cymene; X = GeIV, SiIV, m = 10; X = BIII, m = 12) has been prepared in aqueous acidic medium (pH ≈ 4). The 1:1 interaction of [Ru(C6H6)Cl2]2 or [Ru(p‐cymene)Cl2]2 with [β2‐GeW11O39]8– led to the formation of [{Ru(benzene)}2(GeW11O39)2WO2]10– (1) and [{Ru(p‐cymene)}2(GeW11O39)2WO2]10– (2), respectively. Replacing [β2‐GeW11O39]8– by [α‐SiW11O39]8– resulted in [{Ru(benzene)}2(SiW11O39)2WO2]10– (3) and [{Ru(p‐cymene)}2(SiW11O39)2WO2][SiW12O40]0.512– (4), respectively. The reaction of [α‐HBW11O39]8– with the respective {Ru(arene)}2+‐containing precursors resulted in polyanions [{Ru(benzene)}2(HBW11O39)2WO2]10– (5) and [{Ru(p‐cymene)}2(HBW11O39)2WO2]10– (6), respectively. Single‐crystal XRD analysis of the hydrated salts of 1–6 revealed that these species comprise two Keggin fragments, [{Ru(L)}α‐XW11O39]6– (L = benzene, p‐cymene; X = GeIV, SiIV) for polyanions 1–4 and [{Ru(L)}α‐HBW11O39]6– (L = benzene, p‐cymene) for 5 and 6, connected via a cis‐dioxo {WO2}2+ unit. In addition, the heteropolytungstates were characterized by thermogravimetric analysis, IR spectroscopy, elemental analysis, and solution electrochemical studies.
One “Click” to Access Push–Triazole–Pull Fluorophores Incorporating a Pyrimidine Moiety: Structure–Photophysical Properties Relationships
Authors: Cornec Anne‐Sophie , Baudequin Christine , Fiol‐Petit Catherine , Plé Nelly , Dupas Georges , Ramondenc Yvan 
Published: February 2013

AbstractUsing copper‐catalysed Huisgen 1,3‐dipolar cycloaddition, we describe the synthesis of new A‐π‐D compounds containing a pyrimidine moiety as π‐acceptor (A) and various para‐substituted benzene rings as donors (D). Structure–photophysical properties relationships revealed the triazole ring to be a better π‐conjugated linker than the triple bond.