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1.
Bonfoh B Raso G Koné I Dao D Girardin O Cissé G Zinsstag J Utzinger J Tanner M 《Nature》2011,474(7353):569-571
2.
Ivanklin Soares Campos-Filho Jonathas Teixeira Lisboa Giovanna Monticelli Cardoso 《Journal of Natural History》2018,52(7-8):457-482
To date, the family Pudeoniscidae includes six species and three genera, Pudeoniscus, Brasiloniscus and Iansaoniscus, with distributions restricted to Brazil. Here, we redefine the family Pudeoniscidae based on the discovery of a new genus and two new species, Oxossioniscus pataxo sp. nov. and Oxossioniscus akoko sp. nov., from the Brazilian Atlantic forest in the state of Bahia, and on the examination of Pudeoniscus birabeni and Pudeoniscus obscurus. Moreover, P. obscurus is re-described and new records are provided for P. birabeni.
http://www.zoobank.org/urn:lsid:zoobank.org:pub:A0123730-C623-49CE-8665-AE17FDDF994A. 相似文献
3.
Morelli G Song Y Mazzoni CJ Eppinger M Roumagnac P Wagner DM Feldkamp M Kusecek B Vogler AJ Li Y Cui Y Thomson NR Jombart T Leblois R Lichtner P Rahalison L Petersen JM Balloux F Keim P Wirth T Ravel J Yang R Carniel E Achtman M 《Nature genetics》2010,42(12):1140-1143
Plague is a pandemic human invasive disease caused by the bacterial agent Yersinia pestis. We here report a comparison of 17 whole genomes of Y. pestis isolates from global sources. We also screened a global collection of 286 Y. pestis isolates for 933 SNPs using Sequenom MassArray SNP typing. We conducted phylogenetic analyses on this sequence variation dataset, assigned isolates to populations based on maximum parsimony and, from these results, made inferences regarding historical transmission routes. Our phylogenetic analysis suggests that Y. pestis evolved in or near China and spread through multiple radiations to Europe, South America, Africa and Southeast Asia, leading to country-specific lineages that can be traced by lineage-specific SNPs. All 626 current isolates from the United States reflect one radiation, and 82 isolates from Madagascar represent a second radiation. Subsequent local microevolution of Y. pestis is marked by sequential, geographically specific SNPs. 相似文献
4.
Macgregor S Montgomery GW Liu JZ Zhao ZZ Henders AK Stark M Schmid H Holland EA Duffy DL Zhang M Painter JN Nyholt DR Maskiell JA Jetann J Ferguson M Cust AE Jenkins MA Whiteman DC Olsson H Puig S Bianchi-Scarrà G Hansson J Demenais F Landi MT Dębniak T Mackie R Azizi E Bressac-de Paillerets B Goldstein AM Kanetsky PA Gruis NA Elder DE Newton-Bishop JA Bishop DT Iles MM Helsing P Amos CI Wei Q Wang LE Lee JE Qureshi AA Kefford RF Giles GG Armstrong BK Aitken JF Han J Hopper JL Trent JM Brown KM 《Nature genetics》2011,43(11):1114-1118
We performed a genome-wide association study of melanoma in a discovery cohort of 2,168 Australian individuals with melanoma and 4,387 control individuals. In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A. We selected variants at nine loci for replication in three independent case-control studies (Europe: 2,804 subjects with melanoma, 7,618 control subjects; United States 1: 1,804 subjects with melanoma, 1,026 control subjects; United States 2: 585 subjects with melanoma, 6,500 control subjects). The combined meta-analysis of all case-control studies identified a new susceptibility locus at 1q21.3 (rs7412746, P = 9.0 × 10(-11), OR in combined replication cohorts of 0.89 (95% CI 0.85-0.95)). We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). The associated variants at the 1q21.3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1. Variants at the 1q21.3 locus do not seem to be associated with human pigmentation or measures of nevus density. 相似文献
5.
Kozyrev SV Abelson AK Wojcik J Zaghlool A Linga Reddy MV Sanchez E Gunnarsson I Svenungsson E Sturfelt G Jönsen A Truedsson L Pons-Estel BA Witte T D'Alfonso S Barizzone N Barrizzone N Danieli MG Gutierrez C Suarez A Junker P Laustrup H González-Escribano MF Martin J Abderrahim H Alarcón-Riquelme ME 《Nature genetics》2008,40(2):211-216
6.
CXorf6 is a causative gene for hypospadias 总被引:3,自引:0,他引:3
Fukami M Wada Y Miyabayashi K Nishino I Hasegawa T Nordenskjöld A Camerino G Kretz C Buj-Bello A Laporte J Yamada G Morohashi K Ogata T 《Nature genetics》2006,38(12):1369-1371
46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects approximately 0.5% of male newborns. We identified three different nonsense mutations of CXorf6 in individuals with hypospadias and found that its mouse homolog was specifically expressed in fetal Sertoli and Leydig cells around the critical period for sex development. These data imply that CXorf6 is a causative gene for hypospadias. 相似文献
7.
Toxicology rethinks its central belief 总被引:32,自引:0,他引:32
8.
L. Panizzi Maria Luisa Scarpati Giovanna Oriente 《Cellular and molecular life sciences : CMLS》1955,11(10):383-384
Summary Quinic acid methyl ester, having the 1.4 and 5 hydroxy-groups suitably blocked, was condensed with the carbonilcaffeic acid chloride.Gradual hydrolysis of the condensation compound gave place to chlorogenic acid. 相似文献
9.
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity 总被引:10,自引:0,他引:10
Descargues P Deraison C Bonnart C Kreft M Kishibe M Ishida-Yamamoto A Elias P Barrandon Y Zambruno G Sonnenberg A Hovnanian A 《Nature genetics》2005,37(1):56-65
Mutations in SPINK5, encoding the serine protease inhibitor LEKTI, cause Netherton syndrome, a severe autosomal recessive genodermatosis. Spink5(-/-) mice faithfully replicate key features of Netherton syndrome, including altered desquamation, impaired keratinization, hair malformation and a skin barrier defect. LEKTI deficiency causes abnormal desmosome cleavage in the upper granular layer through degradation of desmoglein 1 due to stratum corneum tryptic enzyme and stratum corneum chymotryptic enzyme-like hyperactivity. This leads to defective stratum corneum adhesion and resultant loss of skin barrier function. Profilaggrin processing is increased and implicates LEKTI in the cornification process. This work identifies LEKTI as a key regulator of epidermal protease activity and degradation of desmoglein 1 as the primary pathogenic event in Netherton syndrome. 相似文献
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