Wiley and the Royal Geographical Society (with IBG) are thrilled to announce the launch this week of Geo: Geography and Environment. The journal will be the Society’s first fully open access journal, and positions the RGS-IBG and Wiley as world leaders in the publication of geographical research.
Geo is one of the first journals of its kind, publishing high-quality, original articles from across the spectrum of geographical and environmental enquiry. It has an interdisciplinary approach that spans the sciences, social sciences and humanities. The journal will focus on work of international significance, and welcomes submissions that bring new understanding to geographical research agendas, foster methodological development, and address contemporary geographical issues.
‘We are extremely pleased to partner with Wiley to offer a journal that will be at the forefront of many of the exciting developments within geographical and environmental research’ said Dr Catherine Souch, Head of Research and Higher Education at the RGS-IBG. ‘By offering an open access journal, the RGS-IBG is strengthening its commitment to publish and disseminate high-quality research reaching the widest possible audience’.
Geo is edited by Professor Gail Davies, of the University of Exeter, and Professor Anson Mackay, of University College London. ‘Growing imperatives for openness in science present both exciting opportunities and significant challenges for research’, said Professor Davies, ‘Openness has many meanings and the ethos of open access is still at issue. The RGS-IBG is actively shaping these debates and I am delighted to be editing Geo.’
Geo will publish articles under a choice of Creative Commons licenses, allowing authors to be fully compliant with open access requirements of funding organisations where they apply. For more information, and to find out how to submit an article, please visit the website here.
Molecular Genetics & Genomic Medicine has now published its next issue. Editor-in-Chief: Max Muenke introduces his editorial highlights: “This issue includes an Invited Commentary on the genomics and epigenomics of substance use disorders and also features the third article in our series, “Genetics and Genomic Medicine around the World”, this month focusing on Brazil. Highlights of the issue include the articles, “Telomere Length, Family History and Paternal Age in Schizophrenia“, “Association of the c.385C>A (p.Pro129Thr) Polymorphism of the Fatty Acid Amide Hydrolase Gene with Anorexia Nervosa in the Japanese Population”, and “46,XY Disorder of Sexual Development Resulting from a Novel Monoallelic Mutation (p.Ser31Phe) in the Steroid 5α-Reductase Type-2 (SRD5A2) Gene”.
Telomere length, family history, and paternal age in schizophrenia by Dolores Malaspina, Roberta Dracxler, Julie Walsh-Messinger, Susan Harlap, Raymond R. Goetz, David Keefe and Mary C. Perrin.
Abstract: Leukocyte telomere length (LTL) is longer in association with advanced paternal age, but this association has not been examined along with family history (FH) in schizophrenia. LTL was measured by PCR and compared across cases and controls as part of a study to examine the characteristics of paternal age related schizophrenia. The 53 schizophrenia cases had similar mean LTL as 20 controls, although cases were significantly older than controls and overwhelmingly smoked cigarettes. Multivariate analyses showed that a FH of schizophrenia was associated with longer LTL in both male and female cases. Later paternal age was also related to longer LTL in male cases, but with shorter LTL in female cases. Male cases with older fathers and a FH had the longest LTL. The genetic architecture associated with a familial risk for schizophrenia may include pathways that lengthen LTL. Paternal aging conferred an additional increase in LTL lengthening in male cases, but reduced LTL in female cases. The gender difference in LTL for paternal aging is consistent with the severe illness features reported for female cases with older fathers and could implicate epigenetic alterations in the paternal X chromosomal region with advanced paternal age in association with the risk for schizophrenia.
Association of the c.385C>A (p.Pro129Thr) Polymorphism of the Fatty Acid Amide Hydrolase Gene with Anorexia Nervosa in the Japanese Population by Tetsuya Ando, Naho Tamura, Takashi Mera, Chihiro Morita, Michiko Takei, Chiemi Nakamoto, Masanori Koide, Mari Hotta, Tetsuro Naruo, Keisuke Kawai, Toshihiro Nakahara, Chikara Yamaguchi, Toshihiko Nagata, Kazuyoshi Ookuma, Yuri Okamoto, Takao Yamanaka, Nobuo Kiriike, Yuhei Ichimaru, Toshio Ishikawa, Gen Komaki and The Japanese Genetic Research Group For Eating Disorders.
Abstract: The functional c.385C>A single-nucleotide polymorphism (SNP) in the fatty acid amide hydrolase (FAAH) gene, one of the major degrading enzymes of endocannabinoids, is reportedly associated with anorexia nervosa (AN). We genotyped the c.385C>A SNP (rs324420) in 762 lifetime AN and 605 control participants in Japan. There were significant differences in the genotype and allele frequencies of c.385C>A between the AN and control groups. The minor 385A allele was less frequent in the AN participants than in the controls (allele-wise, odds ratio = 0.799, 95% confidence interval [CI] 0.653–0.976, P = 0.028). When the cases were subdivided into lifetime restricting subtype AN and AN with a history of binge eating or purging, only the restricting AN group exhibited a significant association (allele-wise, odds ratio = 0.717, 95% CI 0.557–0.922, P = 0.0094). Our results suggest that having the minor 385A allele of the FAAH gene may be protective against AN, especially restricting AN. This finding supports the possible role of the endocannabinoid system in susceptibility to AN.
46,XY Disorder of Sexual Development Resulting from a Novel Monoallelic Mutation (p.Ser31Phe) in the Steroid 5α-Reductase Type-2 (SRD5A2) Gene by Bertha Chávez, Luis Ramos, Rita Gómez and Felipe Vilchis.
Abstract: Inactivating mutations of the 5α-steroid reductase type-2 (SRD5A2) gene result in a broad spectrum of masculinization defects, ranging from a male phenotype with hypospadias to a female phenotype with Wolffian structures. Molecular studies of the SRD5A2 revealed a new heterozygous gene variant within the coding region that results in phenotypic expression. A c.92C>T transition changing serine to phenylalanine at codon 31 of exon 1 (p.Ser31Phe) was identified in a patient with 46,XY disorder of sexual development who displayed glandular hypospadias with micropenis and bilateral cryptorchidism. The restoration of the p.Ser31Phe mutation by site-directed mutagenesis and transient expression assays using cultured HEK-293 cells showed that this novel substitution does not abolish but does deregulate the catalytic efficiency of the enzyme. Thus, the maximum velocity (Vmax) value was higher for the mutant enzyme (22.5 ± 6.9 nmol DHT mg protein−1 h−1) than for the wild-type enzyme (9.8 ± 2.0 nmol DHT mg protein−1 h−1). Increased in vitro activity of the p.Ser31Phe mutant suggested an activating effect. This case provides evidence that heterozygous missense mutations in SRD5A2 may induce the abnormal development of male external genitalia..
The journal also publishes Genetics and Genomic Medicine around the World. Below is the second article of this type, this month focusing on Brazil.
“Genetics and genomics in Brazil: a promising future” by Maria Rita Passos-Bueno, Debora Bertola, Dafne Dain Gandelman Horovitz, Victor Evangelista de Faria Ferraz and Luciano Abreu Brito.
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The American Geophysical Union (AGU) today announced that John Orcutt, a distinguished professor of Geophysics at the Scripps Institution of Oceanography and former president of AGU, will serve as the inaugural editor of its newest open access, peer-reviewed journal, Earth and Space Science. The journal will begin accepting papers in late summer 2014, and the first articles will be available in late fall 2014.
Earth and Space Science reflects the expansive range of science AGU represents, including all of the Earth, planetary, and space sciences, as well as related fields in environmental science, geoengineering, space engineering, and biogeochemistry. It will also include papers describing and presenting data, observations, instrumentation and methods that are important for advancing these fields. In addition to direct submissions, it will accept, via referral from other journals, articles that meet AGU’s high standards of excellence, but that do not fit the unique criteria of those journals.
Earth and Space Science is unique in the breadth of science it represents and its goal to contribute to a broader scientific understanding of the Earth and its environment, as well as our solar system and beyond. To make such an ambitious effort successful, we knew that we needed the guidance of a skilled and innovative editor who could help bring forth, peer-reviewed science and data that are important for societal decision making at all scales,” said AGU President Carol Finn. “I’m pleased to say that John Orcutt’s background makes him perfect for tackling this assignment, and I am happy to welcome him into AGU’s editorial community. Under his leadership I am sure that Earth and Space Science will quickly join the ranks of AGU’s other award-winning journals.”
Orcutt has published more than 175 scientific papers and book chapters. His research interests include the exploitation of information technology for the collection and processing of real-time environmental data, as well as seismology in the oceans and on land and marine geophysics. He is the principal investigator for the National Science Foundation’s MRE-FC Ocean Observatories Initiative Cyberinfrastructure program, and a participant in the National Research Council’s (NRC) study entitled Fukushima, Lessons Learned. Orcutt recently completed a review of hydroacoustics monitoring by the United Nation’s Comprehensive Test Ban Treaty in the Indian Ocean, and he chaired the NRC’s reviews of Ocean Exploration, the National Oceanic and Atmospheric Administration’s Tsunami Warning System, and the Ocean Panel of the Climate, Energy and National Security Committee.
“For many years the Earth and space science community has lacked a space for publishing work on models, data from experiments and observatories, observational methodologies, instrumentation, and the complexities of integrating technologies for stable and long-term observations related to critical issues including climate and hazards. This has presented a significant barrier to scientific progress,” said Orcutt. Earth and Space Science will offer a timely and reputable solution to this dilemma, and as an open access journal, it will ensure that high-quality research is shared as widely as possible. It is only fitting that AGU, as the leading society for Earth and space science, is the home for this innovative and exciting new journal . . . and I am honored to be a part of its inception.”
A recipient of the U.S. Navy/AGU’s Ewing Medal, the American Association for the Advancement of Science’s Newcomb-Cleveland Prize, and the Marine Technology Society’s LockheedMartin Award for Ocean Science and Technology, Orcutt received a Secretary of the Navy/Chief of Naval Operations Chair in 1996. He is a member of the National Academy of Engineering, a member of the American Philosophical Society and a Fellow and Past President of AGU. Orcutt received his bachelor’s in mathematics and physics from U.S. Naval Academy, his master’s in physical chemistry as a Fulbright Scholar at the University of Liverpool, and his Ph.D. in Earth sciences from the Scripps Institution of Oceanography/University of California, San Diego.
Molecular Genetics & Genomic Medicine has now published its next issue. Editor-in-Chief: Max Muenke introduces his editorial highlights: “This issue includes an Invited Commentary on the Future of Genomic Medicine, HLA haplotyping, Papillon-Lefèvre syndrome, and association of THAP1 mutations with Primary Dystonia. It also features the second article in our series Genetics and Genomic Medicine around the World, this month focusing on Thailand. Highlights of the issue include the articles, “Novel IRF6 Mutations in Families with Van Der Woude Syndrome and Popliteal Pterygium Syndrome from Sub-Saharan Africa”, and “Mutations of NOTCH3 in childhood pulmonary arterial hypertension”.
Novel IRF6 Mutations in Families with Van Der Woude Syndrome and Popliteal Pterygium Syndrome from Sub-Saharan Africa by Azeez Butali, Peter A. Mossey, Wasiu L. Adeyemo, Mekonen A. Eshete, LauRen A. Gaines, Dee Even, Ramat O. Braimah, Babatunde S. Aregbesola, Jennifer V. Rigdon, Christian I. Emeka, Olutayo James, Mobolanle O. Ogunlewe, Akinola L. Ladeinde, Fikre Abate, Taye Hailu, Ibrahim Mohammed, Paul E. Gravem, Milliard Deribew, Mulualem Gesses, Adebowale A. Adeyemo and Jeffrey C. Murray.
Abstract: Orofacial clefts (OFC) are complex genetic traits that are often classified as syndromic or nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online Mendelian Inheritance in Man (OMIM) database, of which Van der Woude syndrome (VWS) is one of the most common (accounting for 2% of all OFC). Popliteal pterygium syndrome (PPS) is considered to be a more severe form of VWS. Mutations in the IRF6 gene have been reported worldwide to cause VWS and PPS. Here, we report studies of families with VWS and PPS in sub-Saharan Africa. We screened the DNA of eight families with VWS and one family with PPS from Nigeria and Ethiopia by Sanger sequencing of the most commonly affected exons in IRF6 (exons 3, 4, 7, and 9). For the VWS families, we found a novel nonsense variant in exon 4 (p.Lys66X), a novel splice-site variant in exon 4 (p.Pro126Pro), a novel missense variant in exon 4 (p.Phe230Leu), a previously reported splice-site variant in exon 7 that changes the acceptor splice site, and a known missense variant in exon 7 (p.Leu251Pro). A previously known missense variant was found in exon 4 (p.Arg84His) in the PPS family. All the mutations segregate in the families. Our data confirm the presence of IRF6-related VWS and PPS in sub-Saharan Africa and highlights the importance of screening for novel mutations in known genes when studying diverse global populations. This is important for counseling and prenatal diagnosis for high-risk families.
Mutations of NOTCH3 in childhood pulmonary arterial hypertension by Ayako Chida, Masaki Shintani, Yoshihisa Matsushita, Hiroki Sato, Takahiro Eitoku, Tomotaka Nakayama, Yoshiyuki Furutani, Emiko Hayama, Yoichi Kawamura, Kei Inai, Shinichi Ohtsuki, Tsutomu Saji, Shigeaki Nonoyama and Toshio Nakanishi.
Abstract: Mutations of BMPR2 and other TGF-β superfamily genes have been reported in pulmonary arterial hypertension (PAH). However, 60–90% of idiopathic PAH cases have no mutations in these genes. Recently, the expression of NOTCH3 was shown to be increased in the pulmonary artery smooth muscle cells of PAH patients. We sought to investigate NOTCH3 and its target genes in PAH patients and clarify the role of NOTCH3 signaling. We screened for mutations in NOTCH3, HES1, and HES5 in 41 PAH patients who had no mutations in BMPR2, ALK1, endoglin, SMAD1/4/8, BMPR1B, or Caveolin-1. Two novel missense mutations (c.2519 G>A p.G840E, c.2698 A>C p.T900P) in NOTCH3 were identified in two PAH patients. We performed functional analysis using stable cell lines expressing either wild-type or mutant NOTCH3. The protein-folding chaperone GRP78/BiP was colocalized with wild-type NOTCH3 in the endoplasmic reticulum, whereas the majority of GRP78/BiP was translocated into the nuclei of cells expressing mutant NOTCH3. Cell proliferation and viability were higher for cells expressing mutant NOTCH3 than for those expressing wild-type NOTCH3. We identified novel NOTCH3 mutations in PAH patients and revealed that these mutations were involved in cell proliferation and viability. NOTCH3 mutants induced an impairment in NOTCH3-HES5 signaling. The results may contribute to the elucidation of PAH pathogenesis.
The journal also publishes Genetics and Genomic Medicine around the World. Below is the second article of this type, this month focusing on Thailand.
“Genetics and genomics in Thailand: challenges and opportunities” by Vorasuk Shotelersuk, Chanin Limwongse and Surakameth Mahasirimongkol
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Latest institutions to open Wiley Open Access Accounts: Aston University, Queen Mary University of London, Queen’s University Belfast, Swansea University, University of Exeter, University of Strathclyde, University of Sussex
We are pleased to announce Aston University, Queen Mary University of London, Queen’s University Belfast, Swansea University, University of Exeter, University of Strathclyde, and the University of Sussex have signed up for Wiley Open Access Accounts and now pay for their researchers to publish an open access article with Wiley. Authors affiliated with these Universities can publish research articles in Wiley Open Access journals and/or OnlineOpen without directly paying any publication charges. Aston University, Queen Mary University of London, Queen’s University Belfast, Swansea University, University of Exeter, University of Strathclyde, and the University of Sussex become the latest funders to open a Wiley Open Access Account.
Browse our growing list of institutions/funders who have an account or partnership with Wiley Open Access.
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Wiley today launched Evidence-based Preclinical Medicine (EBPM), a new open access journal and the first of its kind dedicated to publishing systematic review protocols and systematic reviews which summarise data from animal studies on subjects relevant to human health. The launch of EBPM consolidates Wiley’s position as the leading publisher in evidence-based medicine.
Systematic reviews are a form of meta-analysis, identifying, appraising, selecting and synthesising all high quality research evidence relevant to a specific question. EBPM’s synthesis of preclinical evidence will improve evaluation of the potential success of future clinical trials, improving the reliability and value of medical research.
The journal is edited by Associate Professor David Howells, of the Florey Institute of Neuroscience and Mental Health, and Professor Malcolm Macleod of the University of Edinburgh. ‘Evidence-based Preclinical Medicine aims to be more than just a journal’ said Professor Macleod. ‘By providing a foundation of pre-clinical evidence we can escape the enthusiasms and vested interests that can distort the application of research from animals to humans’.
The journal has developed a helpdesk to guide practitioners through the processes of systematic review and to help authors prepare their study datasets for publication. EBPM also publishes protocols describing the proposed approach for a systematic review, enabling readers to distinguish between hypothesis and evidence-based observations.
For more information visit: www.evidencebasedpreclinicalmedicine.com
Wiley is excited to announce that Veterinary Medicine and Science has launched! This is a new, international, open access journal publishing original, quality peer-reviewed research. The journal covers all aspects of medicine and science related to zoo, production and companion animals.
Veterinary Medicine and Science aims to provide a platform where authors can submit interesting and original work related to the fields of fundamental and clinical veterinary medicine and science. The journal will provide a global forum where the best research is made available as quickly as possible.
And because the journal is fully open access, research is available to all, with no restrictions. All articles published to the journal are published under the Creative Commons Attribution Licence, allowing authors to comply with Open Access Mandates.
Editor-in-Chief, Ed Hall, is based at the University of Bristol Veterinary School, where he heads up the Comparative and Clinical Research Group. His particular research and clinical interests are small animal gastroenterology and endoscopy.
Veterinary Medicine and Science is now open for submissions. For more information, and to find out how to submit your work, please visit the website here.