Search results for "Loder"
showing 10 items of 14 documents
De novo transcriptome assembly of a facultative parasitic nematode Pelodera (syn. Rhabditis) strongyloides
2018
Pelodera strongyloides is a generally free-living gonochoristic facultative nematode. The whole genomic sequence of P. strongyloides remains unknown but 4 small subunit ribosomal RNA (ssrRNA) gene sequences are available. This project launched a de novo transcriptome assembly with 100 bp paired-end RNA-seq reads from normal, starved and wet-plate cultured animals. Trinity assembly tool generated 104,634 transcript contigs with N50 contig being 2195 bp and average contig length at 1103 bp. Transcriptome BLASTX matching results of five nematodes (C. elegans, Strongyloides stercoralis, Necator americanus, Trichuris trichiura, and Pristionchus pacificus) were consistent with their evolutionary …
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
2013
Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All thr…
Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
2014
Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a…
Data from: Plant – herbivorous beetle networks: molecular characterization of trophic ecology within a threatened steppic environment
2015
DNA barcoding facilitates many evolutionary and ecological studies, including the examination of the dietary diversity of herbivores. In this study, we present a survey of ecological associations between herbivorous beetles and host plants from seriously threatened European steppic grasslands. We determined host plants for the majority (65%) of steppic leaf beetles (55 species) and weevils (59) known from central Europe using two barcodes (trnL and rbcL) and two sequencing strategies (Sanger for mono/oligophagous species and Illumina for polyphagous taxa). To better understand the ecological associations between steppic beetles and their host plants, we tested the hypothesis that leaf beetl…
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutatio…
2015
Background Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. Methods Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. Results Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypoh…
Brief an Garlieb H. Merkel
1799
Ms. 930a, Nr. 18, Bl. 45r-46v Justus C. Loder. Brief an GarliebH. Merkel, Jena, den 19. Jul[i] 1799 Autora rokraksts / Autograph, vācuval. / Deutsch [2] lpp. / S. Attēlu numuri / Bildnummern: 930a-018-1, 930a-018-2 Der kurze Brief, der wahrscheinlich von Justus C. Loder stammt, hat vor allem zum Ziel, scheinbar erneut, Merkel einzuladen und die Verbundenheit mit ihm zum Ausdruck zu bringen.Loder, der zu diesem Zeitpunkt Professor für Medizin in Jena war, stammte aus Riga, woraus sich ein besonderes Verhältnis zu Livland und zum Adressaten entstammt haben könnte. Es ist naheliegend, dass Merkel während seines kurzen, aber nicht zu Ende geführten Medizinstudiums, das er in Leipzig begann und …
Brief an Garlieb H. Merkel
1799
Ms. 930a, Nr. 8, Bl. 22r-23v Böttiger, Karl August. Brief an Garlieb H. Merkel, Weimar, d[en] 13. November 1797 Autora rokraksts / Autograph, vācu, angļu un latīņu val. / Deutsch, Englisch und Latein [4] lpp. / S. Attēlu numuri / Bildnummern: 930a-008-1 – 930a-008-4 Der Verfasser nennt in diesem inhaltsreichen Brief zahlreiche Namen und hält nicht nur die Verbindung mit Merkel, die aus dessen erstem Aufenthalt in Weimar resultierte, aufrecht, sondern gibt ihm weitere Hinweise und Empfehlung für seinen weiteren Aufenthalt in Dänemark. So rät er zur Übersetzung dreier Romane aus dem Englischen, darunter Jane Wests „A gossip's story“ (London 1796). Ferner bittet der Verfasser Merkel um Gefälli…
Xeroderma Pigmentosum – A case report with oral implications
2012
Xeroderma Pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents. Important clinical features are: intense cutaneous photosensitivity, xerosis, poikiloderma, actinic keratosis, acute burning under minimal sun exposure, erythemas, hyperpigmented lentiginous macules, and malignant lesions in sun-exposed areas, including basocellular carcinoma, squamous cell carcinoma, and melanoma. There is a great involvement of many parts of the body, especially head and neck. The oral manifestations are mainly related to the occurrence of malignant tumors in the lips,…
Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis
2016
Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with neurovascular, ophthalmological, overgrowth, and malignant complications. Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins. The mutations were det…
Evidence suggests an opportunistic entomophagous diet of the White Stork Ciconia ciconia in Sicily during breeding and post-breeding periods
2022
Insects are known to represent a critical part of the White Stork Ciconia ciconia diet throughout its breeding range. Yet, the composition of the diet in the storks breeding in the Mediterranean regions remains poorly explored. Here, we investigated the diet of a population of white storks from Sicily through pellets collected in 2003, 2007, and 2020. A total of 1,928 prey items were identified and classified into six categories. Insects dominated the diet in all years and represented 99.06% of the whole prey number. Two orders of insects were mainly consumed, namely Orthoptera, which were the most frequent prey, followed by Coleoptera. Within these, carabid beetles were dominant, followed …