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Möbius sequence

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https://www.readbyqxmd.com/read/27865944/misoprostol-exposure-during-the-first-trimester-of-pregnancy-is-the-malformation-risk-varying-depending-on-the-indication
#1
Marine Auffret, Nathalie Bernard-Phalippon, Joëlle Dekemp, Patrick Carlier, Marie Gervoise Boyer, Thierry Vial, Sophie Gautier
OBJECTIVE: To report the prospective follow-up of pregnancies exposed to misoprostol during the first trimester and analyse the teratogenic risk depending on the indication for use. STUDY DESIGN: Prospective observational study of 265 women exposed to misoprostol during the first 12 weeks of pregnancy and followed until the delivery. Women were included if they or their physician had contacted a French pharmacovigilance centre before 22 weeks of gestation (WG) to obtain information on the risk of misoprostol exposure, and if there had been misoprostol exposure before 13 WG...
November 11, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27487329/structural-and-functional-characterisation-of-chimeric-cyclotides-from-the-m%C3%A3-bius-and-trypsin-inhibitor-subfamilies
#2
Hafiza Abdul Ghani, Sónia Troeira Henriques, Yen-Hua Huang, Joakim E Swedberg, Christina I Schroeder, David J Craik
Cyclotides are plant-derived host defence peptides displaying exceptional stability due to their cyclic cystine knot comprising three intertwined disulfide bonds and a cyclic backbone. Their six conserved cysteine residues are separated by backbone loops with diverse sequences. Prototypical cyclotides from the Möbius (kalata B1) and trypsin inhibitor (MCoTI-II) subfamilies lack sequence homology with one another, but both are able to penetrate cells, apparently via different mechanisms. To delineate the influence of the sequences of the loops on the structure and cell internalisation of these two cyclotide subfamilies, a series of Möbius/trypsin inhibitor loop-chimeras of kalata B1 and MCoTI-II were synthesised, and structurally and functionally characterised...
August 3, 2016: Biopolymers
https://www.readbyqxmd.com/read/27144914/homozygous-hoxb1-loss-of-function-mutation-in-a-large-family-with-hereditary-congenital-facial-paresis
#3
Markus Vogel, Eunike Velleuer, Leon F Schmidt-Jiménez, Ertan Mayatepek, Arndt Borkhardt, Malik Alawi, Kerstin Kutsche, Fanny Kortüm
Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Genetic heterogeneity has been documented for HCFP as one locus mapped to chromosome 3q21-q22 (HCFP1) and a second to 10q21.3-q22.1 (HCFP2)...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26979810/foetal-fibular-hemimelia-with-focal-femoral-deficiency-following-prenatal-misoprostol-use-a-case-report
#4
P Pallavee, Rupal Samal, Jasmina Begum, Seetesh Ghose
Misoprostol is a well known abortifacient. It can cause teratogenicity like Mobius sequence and terminal transverse limb defects. We report a rare case of proximal focal femoral deficiency with fibular hemimelia in a woman who had attempted abortion with self-administered misoprostol and later continued the pregnancy. Though the absolute risk of congenital malformations with its use is low ∼1%, this should be clearly communicated to the women requesting abortion to help them make fully informed reproductive health decisions...
March 16, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/26384038/comprehensive-insights-in-the-mycobacterium-avium-subsp-paratuberculosis-genome-using-new-wgs-data-of-sheep-strain-jiii-386-from-germany
#5
Petra Möbius, Martin Hölzer, Marius Felder, Gabriele Nordsiek, Marco Groth, Heike Köhler, Kathrin Reichwald, Matthias Platzer, Manja Marz
Mycobacterium avium (M. a.) subsp. paratuberculosis (MAP) - the etiologic agent of Johne's disease - affects cattle, sheep and other ruminants worldwide. To decipher phenotypic differences among sheep and cattle strains (belonging to MAP-S [Type-I/III] respectively MAP-C [Type-II]) comparative genome analysis needs data from diverse isolates originating from different geographic regions of the world. The current study presents the so far best assembled genome of a MAP-S-strain: sheep isolate JIII-386 from Germany...
September 17, 2015: Genome Biology and Evolution
https://www.readbyqxmd.com/read/25893527/a-novel-co-occurrence-of-jaw-winking-ptosis-and-duane-like-synkinesis-in-m%C3%A3-bius-sequence
#6
LETTER
Nirupama Kasturi
No abstract text is available yet for this article.
October 2015: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/25833072/speech-production-intelligibility-and-oromotor-function-in-seven-individuals-with-m%C3%A3-bius-sequence
#7
Lotta Sjögreen, Kajsa Eklund, Anna Nilsson, Christina Persson
PURPOSE: Möbius sequence is a rare disease characterized by congenital facial and abducent nerve palsy. Other cranial nerves may be affected. Cleft palate, intellectual disability and neuropsychiatric disorders are associated with the diagnosis. The aim was to explore speech production, intelligibility and oromotor function in a group of individuals with Möbius sequence. METHOD: Three children (5-11 years) and four adults (26-54 years) were recruited to the study via the Swedish Möbius syndrome association...
April 2, 2015: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/25614557/draft-genome-sequences-of-symbiotic-and-nonsymbiotic-rhizopus-microsporus-strains-cbs%C3%A2-344-29-and-atcc%C3%A2-62417
#8
Fabian Horn, Zerrin Üzüm, Nadine Möbius, Reinhard Guthke, Jörg Linde, Christian Hertweck
Specific Rhizopus microsporus pathovars harbor bacterial endosymbionts (Burkholderia rhizoxinica) for the production of a phytotoxin. Here, we present the draft genome sequences of two R. microsporus strains, one symbiotic (ATCC 62417), and one endosymbiont-free (CBS 344.29). The gene predictions were supported by RNA sequencing (RNA-seq) data. The functional annotation sets the basis for comparative analyses.
2015: Genome Announcements
https://www.readbyqxmd.com/read/25494376/teratogen-exposure-and-congenital-ocular-abnormalities-in-brazilian-patients-with-m%C3%A3-bius-sequence
#9
Camila V Ventura, Liana O Ventura, Marilyn T Miller, Monica F Cronemberger, Carlos Sousa Dias, Maria Joaquina Marques Dias, Claudete H Gonzalez, Mariza Polati, Célia R Nakanami, Carlos Teixeira Brandt, Evelyn Kuczynski, Mauro Goldchmit
Purpose: To assess the sociodemographic profiles, teratogen exposures, and ocular congenital abnormalities in Brazilian patients with Möbius sequence. Method: Forty-four patients were recruited from the Brazilian Möbius Sequence Society. This cross-section comprised 41 patients (age, mean ± standard deviation, 9.0 ± 5.5 years) who fulfilled the inclusion criteria. The parent or caregiver answered a questionnaire regarding sociodemographic data and pregnancy history. Patients underwent ophthalmological assessments...
October 2014: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/25091874/genetic-characterization-of-german-mycobacterium-avium-strains-isolated-from-different-hosts-and-specimens-by-multilocus-sequence-typing
#10
Janina Kolb, Doris Hillemann, Petra Möbius, Jochen Reetz, Annesha Lahiri, Astrid Lewin, Sabine Rüsch-Gerdes, Elvira Richter
Infections caused by Mycobacterium avium and its subspecies are reported as emerging disease in many countries worldwide. In our study we applied the multilocus sequence typing technology to 98 German M. avium strains originating from different hosts and specimens to examine the degree of the genetic diversity. By MLST, 80% of strains were identified as subspecies 'M. avium hominissuis', and 20% as subspecies M. avium avium/M. avium silvaticum. Distinctly different MLST profiles were identified for both subspecies...
November 2014: International Journal of Medical Microbiology: IJMM
https://www.readbyqxmd.com/read/24951398/unilateral-m%C3%A3-bius-syndrome-two-cases-and-a-review-of-the-literature
#11
REVIEW
F D Jacob, A Kanigan, L Richer, H El Hakim
IMPORTANCE: The Möbius sequence is a rare condition defined by the combination of congenital non-progressive facial and abducens nerve palsies. The etiology of the sequence is still unknown, but likely encompasses a group of heterogeneous disorders involving genetic maldevelopment of the brainstem, a fetal vascular insult and/or teratogen exposure. The clinical phenotype reported has expanded over the years, and may be associated with more extensive cranial nerve and oropharyngeal involvement, as well as limb defects...
August 2014: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/24918986/fmoc-based-synthesis-of-disulfide-rich-cyclic-peptides
#12
Olivier Cheneval, Christina I Schroeder, Thomas Durek, Phillip Walsh, Yen-Hua Huang, Spiros Liras, David A Price, David J Craik
Disulfide-rich cyclic peptides have exciting potential as leads or frameworks in drug discovery; however, their use is faced with some synthetic challenges, mainly associated with construction of the circular backbone and formation of the correct disulfides. Here we describe a simple and efficient Fmoc solid-phase peptide synthesis (SPPS)-based method for synthesizing disulfide-rich cyclic peptides. This approach involves SPPS on 2-chlorotrityl resin, cyclization of the partially protected peptide in solution, cleavage of the side-chain protecting groups, and oxidization of cysteines to yield the desired product...
June 20, 2014: Journal of Organic Chemistry
https://www.readbyqxmd.com/read/24715754/a-novel-de-novo-kif21a-mutation-in-a-patient-with-congenital-fibrosis-of-the-extraocular-muscles-and-m%C3%A3-bius-syndrome
#13
Zahra Ali, Chao Xing, Didar Anwar, Kamel Itani, David Weakley, Xin Gong, Juan M Pascual, V Vinod Mootha
PURPOSE: To describe the phenotypic characteristics and clinical course of a sporadic case of congenital fibrosis of the extraocular muscles (CFEOM) and Möbius syndrome with a de novo mutation in the KIF21A gene encoding a kinesin motor protein. METHODS: An individual with the rare combination of CFEOM and Möbius syndrome underwent comprehensive ophthalmologic and neurological evaluations. Magnetic resonance imaging (MRI) including diffusion tensor imaging (DTI) tractigraphy at 3T field strength was used to evaluate orbital, encephalic, and intracranial nerve integrity...
2014: Molecular Vision
https://www.readbyqxmd.com/read/24372650/internalization-routes-of-cell-penetrating-melanoma-antigen-peptides-into-human-dendritic-cells
#14
Timo Buhl, Andrea Braun, Susann Forkel, Wiebke Möbius, Lars van Werven, Olaf Jahn, Nasrollah Rezaei-Ghaleh, Markus Zweckstetter, Martin Mempel, Michael P Schön, Holger A Haenssle
Optimized delivery of antigens combined with sustainable maturation of dendritic cells (DCs) is crucial for generation of effective antitumoral immune responses. Multiple approaches for ex vivo antigen loading and improvement in immunogenicity have been described. We have recently established a single-step protocol consisting of a fusion peptide (a sequence of the melanoma antigen Melan-A and a cationic cell-penetrating HIV TAT domain) bound in complexes with a toll-like receptor agonist. As the exact cellular uptake mechanisms of TAT-coupled antigens have been a matter of considerable debate and significantly depend on cell type, cargo and concentrations, we evaluated internalization routes into human immature DCs in comparison with non-phagocytic cell lines...
January 2014: Experimental Dermatology
https://www.readbyqxmd.com/read/24095568/stability-of-genotyping-target-sequences-of-mycobacterium-avium-subsp-paratuberculosis-upon-cultivation-on-different-media-in-vitro-and-in-vivo-passage-and-natural-infection
#15
Nadine Kasnitz, Heike Köhler, Mathias Weigoldt, Gerald F Gerlach, Petra Möbius
Mycobacterium (M.) avium subsp. paratuberculosis - the causative agent of paratuberculosis (Johne's disease) - affects domestic and wild ruminants worldwide. Recently, different typing techniques have been combined to provide sufficient discriminatory power for the differentiation of isolates and for epidemiological studies. In order to challenge the reliability of this approach the stability of different M. avium subsp. paratuberculosis genotypes determined after primary isolation was investigated after sub-cultivation on six different media (A), twelve in vitro passages (B), or a singular in vivo passage (C)...
December 27, 2013: Veterinary Microbiology
https://www.readbyqxmd.com/read/24091937/ryr1-mutations-as-a-cause-of-ophthalmoplegia-facial-weakness-and-malignant-hyperthermia
#16
Sherin Shaaban, Leigh Ramos-Platt, Floyd H Gilles, Wai-Man Chan, Caroline Andrews, Umberto De Girolami, Joseph Demer, Elizabeth C Engle
IMPORTANCE: Total ophthalmoplegia can result from ryanodine receptor 1 (RYR1) mutations without overt associated skeletal myopathy. Patients carrying RYR1 mutations are at high risk of developing malignant hyperthermia. Ophthalmologists should be familiar with these important clinical associations. OBJECTIVE: To determine the genetic cause of congenital ptosis, ophthalmoplegia, facial paralysis, and mild hypotonia segregating in 2 pedigrees diagnosed with atypical Moebius syndrome or congenital fibrosis of the extraocular muscles...
December 2013: JAMA Ophthalmology
https://www.readbyqxmd.com/read/24061836/prevalence-of-refractive-errors-in-m%C3%A3-bius-sequence
#17
Monica Fialho Cronemberger, Mariza Polati, Iara Debert, Tomás Scalamandré Mendonça, Carlos Souza-Dias, Marilyn Miller, Liana Oliveira Ventura, Célia Regina Nakanami, Mauro Goldchmit
PURPOSE: To assess the prevalence of refractive errors in Möbius sequence. METHODS: This study was carried out during the Annual Meeting of the Brazilian Möbius Society in November 2008. Forty-four patients diagnosed with the Möbius sequence were submitted to a comprehensive assessment, on the following specialties: ophthalmology, neurology, genetics, psychiatry, psychology and dentistry. Forty-three patients were cooperative and able to undertake the ophthalmological examination...
July 2013: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/23638131/first-report-of-generalized-face-processing-difficulties-in-m%C3%A3-bius-sequence
#18
Sarah Bate, Sarah Jayne Cook, Joseph Mole, Jonathan Cole
Reverse simulation models of facial expression recognition suggest that we recognize the emotions of others by running implicit motor programmes responsible for the production of that expression. Previous work has tested this theory by examining facial expression recognition in participants with Möbius sequence, a condition characterized by congenital bilateral facial paralysis. However, a mixed pattern of findings has emerged, and it has not yet been tested whether these individuals can imagine facial expressions, a process also hypothesized to be underpinned by proprioceptive feedback from the face...
2013: PloS One
https://www.readbyqxmd.com/read/23509245/toward-a-unified-physical-model-of-nucleosome-patterns-flanking-transcription-start-sites
#19
Wolfram Möbius, Brendan Osberg, Alexander M Tsankov, Oliver J Rando, Ulrich Gerland
Recent genome-wide maps of nucleosome positions in different eukaryotes revealed patterns around transcription start sites featuring a nucleosome-free region flanked by a periodic modulation of the nucleosome density. For Saccharomyces cerevisiae, the average in vivo pattern was previously shown to be quantitatively described by a "nucleosome gas" model based on the statistical positioning mechanism. However, this simple physical description is challenged by the fact that the pattern differs quantitatively between species and by recent experiments that appear incompatible with statistical positioning, indicating important roles for chromatin remodelers...
April 2, 2013: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/23504256/making-ends-meet-microwave-accelerated-synthesis-of-cyclic-and-disulfide-rich-proteins-via-in-situ-thioesterification-and-native-chemical-ligation
#20
Sunithi Gunasekera, Teshome L Aboye, Walid A Madian, Hesham R El-Seedi, Ulf Göransson
The development of synthetic methodologies for cyclic peptides is driven by the discovery of cyclic peptide drug scaffolds such as the plant-derived cyclotides, sunflower trypsin inhibitor 1 (SFTI-1) and the development of cyclized conotoxins. Currently, the native chemical ligation reaction between an N-terminal cysteine and C-terminal thioester group remains the most robust method to obtain a head-to-tail cyclized peptide. Peptidyl thioesters are effectively generated by Boc SPPS. However, their generation is challenging using Fmoc SPPS because thioester linkers are not stable to repeated piperidine exposure during deprotection...
March 2013: International Journal of Peptide Research and Therapeutics
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