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1,301 results on '"Sprecher, E."'

201. 381 Epidermolytic ichthyosis sine epidermolysis

Author

Eskin-Schwartz, M., primary, Drozhdina, M., additional, Sarig, O., additional, Jackman, T., additional, Isakov, O., additional, Samuelov, L., additional, Malchin, N., additional, Peled, A., additional, Vodo, D., additional, Shomron, N., additional, Ruzicka, T., additional, Koshkin, S., additional, Green, K., additional, Paller, A., additional, and Sprecher, E., additional

Published
2016
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202. 372 CAPN12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis

Author

Bochner, R., primary, Samuelov, L., additional, Sarig, O., additional, Li, Q., additional, Koetsier, J., additional, Adase, C., additional, Isakov, O., additional, Malchin, N., additional, Vodo, D., additional, Shayevitch, R., additional, Yu, B., additional, Fainberg, G., additional, Harmon, R., additional, Najor, N., additional, Godsel, L., additional, Warshauer, E., additional, Gat, A., additional, Goldberg, I., additional, Shomron, N., additional, Ast, G., additional, McLean, W., additional, Gallo, R., additional, Uitto, J., additional, Green, K., additional, and Sprecher, E., additional

Published
2016
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206. Käfer (Coleoptera) im Gebiet des Furkapasses, Kantone Uri und Wallis

Author

Germann, C, Geiser, M, Luka, H, Sprecher, E, Schatz, I, Germann, C, Geiser, M, Luka, H, Sprecher, E, and Schatz, I

Abstract

Beetles (Coleoptera) in the region of the Furkapass (cantons Uri and Valais). – One hundred eleven species of beetles were identified in the region of the Furkapass (2300–2700 ma.s.l.). This species richness is high compared to that of similar biotopes in the Swiss Alps. The records of Psylliodes schwarzi Weise, 1900, Mycetoporus inaris Luze, 1901 and Cratosilis distinguenda (Baudi, 1859) on the northern side of the Alps are remarkable.

Published
2015

214. A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in <italic>PSENEN</italic>.

Author

Pavlovsky, M., Sarig, O., Eskin‐Schwartz, M., Malchin, N., Bochner, R., Mohamad, J., Gat, A., Peled, A., Hafner, A., and Sprecher, E.

Subjects
HIDRADENITIS suppurativa, DOWLING-Degos disease, GENETIC mutation, POLYMERASE chain reaction, KERATINOCYTES
Abstract

Summary: Background: Dowling–Degos disease (DDD), featuring reticulate pigmentation, and familial hidradenitis suppurativa (HS) share many clinical features including autosomal dominant inheritance, flexural location and follicular defects. The coexistence of the two disorders was recently found to result from mutations in PSENEN, encoding the γ‐secretase subunit protein presenilin enhancer. Objectives: To investigate PSENEN mutations in a series of four unrelated patients who presented with combined DDD and HS. Methods: Mutation and haplotype analysis of PSENEN by polymerase chain reaction, and cellular assays investigating the Notch signalling pathway. Results: Here we report four families of Jewish Ashkenazi origin who presented with clinical features characteristic of both disorders. All patients were found to carry the same, heterozygous mutation in PSENEN (c.168T>G, p.Y56X). Haplotype analysis revealed that the mutation originated from a common ancestor. Genes associated with DDD, as well as HS, have been shown to encode important regulators of Notch signalling. Accordingly, using a reporter assay, we demonstrated decreased Notch activity in a patient's keratinocytes. Conclusions: The present data confirm the genetic basis of the combined DDD‐HS phenotype and suggest that Notch signalling may play a central role in the pathogenesis of this rare condition. [ABSTRACT FROM AUTHOR]

Published
2018
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215. K1テイルドメインの変異によるIchthyosis hystrix

Author

Sprecher, E and Richard, G

Abstract

出版社版, 当所Vohwinkel's keratoma hereditarium mutilansと診断されていた1家系が実際にはCurth-Macklin型Ichthyosis hystrixであり,その病因がテイルドメインの変異であった事例を報告した

Published
2002

216. Desmoglein 1 deficiency inhibits desmosomal function in allergic cutaneous reactions

Author

Rogers, T, primary, Samuelov, L, additional, Sarig, O, additional, Harmon, R, additional, Rapaport, D, additional, Warshauer, E, additional, Ishida-Yamamoto, A, additional, Isakov, O, additional, Koetsier, J, additional, Gat, A, additional, Goldberg, I, additional, Bergman, R, additional, Spiegel, R, additional, Eytan, O, additional, Geller, S, additional, Haemek Medical Center Israel, Peleg S, additional, Zeeli, T, additional, Shomron, N, additional, Goh, C, additional, Wilson, N, additional, Smith, F, additional, Pohler, E, additional, Simpson, M, additional, Murrell, D, additional, SalasAlanis, J, additional, Shani, A, additional, Paller, A, additional, McLean, I, additional, Irvine, A, additional, Horowitz, M, additional, McGrath, J, additional, Green, K, additional, and Sprecher, E, additional

Published
2015
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219. A mutation in TP63 causing a mild ectodermal dysplasia phenotype

Author

Goldsmith, T., Eytan, O., Magal, L., Solomon, M., Israeli, S., Warshauer, E., Grafi-Cohen, M., Aberdam, D., Bokhoven, H. van, Zhou, Huiqing, Sarig, O., Sprecher, E., Nousbeck, J., Goldsmith, T., Eytan, O., Magal, L., Solomon, M., Israeli, S., Warshauer, E., Grafi-Cohen, M., Aberdam, D., Bokhoven, H. van, Zhou, Huiqing, Sarig, O., Sprecher, E., and Nousbeck, J.

Abstract

Item does not contain fulltext

Published
2014

220. Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: A seven case series

Author

Mazor, RD, Manevich-Mazor, M, Kesler, A, Aizenstein, O, Eshed, I, Jaffe, R, Pessach, Y, Goldberg, I, Sprecher, E, Yaish, I, Gural, A, Ganzel, C, Shoenfeld, Y, Mazor, RD, Manevich-Mazor, M, Kesler, A, Aizenstein, O, Eshed, I, Jaffe, R, Pessach, Y, Goldberg, I, Sprecher, E, Yaish, I, Gural, A, Ganzel, C, and Shoenfeld, Y

Abstract

Background: Erdheim-Chester Disease (ECD), a non Langerhans' cell histiocytosis of orphan nature and propensity for multi-systemic presentations, comprises an intricate medical challenge in terms of diagnosis, treatment and complication management. Objectives: The objectives are to report the clinical, radiological and pathological characteristics, as well as cardinal therapeutic approaches to ECD patients and to provide clinical analyses of the medical chronicles of these complex patients. Methods: Patients with biopsy proven ECD were audited by a multi-disciplinary team of specialists who formed a coherent timeline of all the substantial clinical events in the evolution of their patients' illness. Results: Seven patients (five men, two women) were recruited to the study. The median age at presentation was 53 years (range: 39 to 62 years). The median follow-up time was 36 months (range: 1 to 72 months). Notable ECD involvement sites included the skeleton (seven), pituitary gland (seven), retroperitoneum (five), central nervous system (four), skin (four), lungs and pleura (four), orbits (three), heart and great vessels (three) and retinae (one). Prominent signs and symptoms were fever (seven), polyuria and polydipsia (six), ataxia and dysarthria (four), bone pain (four), exophthalmos (three), renovascular hypertension (one) and dyspnea (one). The V600E BRAF mutation was verified in three of six patients tested. Interferon-α treatment was beneficial in three of six patients treated. Vemurafenib yielded dramatic neurological improvement in a BRAF mutated patient. Infliximab facilitated pericardial effusion volume reduction. Cladribine improved cerebral blood flow originally compromised by perivenous lesions. Conclusions: ECD is a complex, multi-systemic, clonal entity coalescing both neoplastic and inflammatory elements and strongly dependent on impaired RAS/RAF/MEK/ERK signaling.

Published
2014

221. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B

Author

Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, and Hennies HC

Abstract

In recent years several new genes for autosomal recessive congenital ichthyosis (ARCI) have been identified. However, little is known about the molecular epidemiology and pathophysiology of this genetically and clinically heterogeneous group of severe disorders of keratinization. ARCI is characterized by intense scaling of the whole integument often associated with erythema. We and others have shown that mutations in ALOX12B and ALOXE3, coding for the lipoxygenases 12R-LOX and eLOX-3 predominantly synthesized in the epidermis, can underlie this rare condition. Here we have surveyed a large group of 250 patients with ARCI for mutations in these two genes. We have identified 11 different previously unreported mutations in ALOX12B and ALOXE3 in 21 ARCI patients from 19 unrelated families and demonstrated that mutations in the two genes are the second most common cause for ARCI in this cohort of patients. Examination of the molecular data revealed allelic heterogeneity for ALOX12B and two mutational hotspots in ALOXE3. Functional analysis of all missense mutations and a splice site mutation demonstrated that complete loss of function of the enzymes underlies the phenotype. Our findings further establish the pivotal role of the 12-lipoxygenase pathway during epidermal differentiation.

Published
2009

222. A novel homozygous deletion in EXPH5 causes a skin fragility phenotype.

Author

Malchin, N., Sarig, O., Grafi‐Cohen, M., Geller, S., Goldberg, I., Shani, A., Gat, A, Sprecher, E., and Mashiah, J.

Subjects
EPIDERMOLYSIS bullosa, GENETIC mutation, GENETIC polymorphisms, SPECTRUM analysis, PHYSIOLOGICAL effects of cytokines, THERAPEUTICS
Abstract

Epidermolysis bullosa simplex ( EBS) is the most common form of EB. Eight different genes have been implicated in the pathogenesis of different types of EBS, but a substantial portion of the cases cannot be attributed to mutations in known genes. Recently, recessive mutations in the gene EXPH5 (encoding exophilin-5, also known as Slac2-b) were identified in patients affected with a mild form of EBS. We used immunohistochemistry, Sanger sequencing and PCR-restriction fragment length polymorphism analysis to identify the cause of mild congenital skin fragility in a 3-year-old girl. No mutations were detected in KRT5 or KRT14, but we identified a novel homozygous deletion in EXPH5, which was found to cosegregate with the disease phenotype in the family. Our results further expand the spectrum of mutations in EXPH5. Appraisal of the present case against previously reported patients indicate that EXPH5 mutations result in a distinctive skin fragility phenotype, with minimal blistering compared with other forms of basal EBS. [ABSTRACT FROM AUTHOR]

Published
2016
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227. Increased epidermal expression and absence of mutations inCARD14in a series of patients with sporadic pityriasis rubra pilaris

Author

Eytan, O., primary, Qiaoli, L., additional, Nousbeck, J., additional, van Steensel, M.A.M., additional, Burger, B., additional, Hohl, D., additional, Taïeb, A., additional, Prey, S., additional, Bachmann, D., additional, Avitan-Hersh, E., additional, Jin Chung, H., additional, Shemer, A., additional, Trau, H., additional, Bergman, R., additional, Fuchs-Telem, D., additional, Warshauer, E., additional, Israeli, S., additional, Itin, P.H., additional, Sarig, O., additional, Uitto, J., additional, and Sprecher, E., additional

Published
2014
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245. 853 HMCN1 variants aggravate epidermolysis bullosa phenotype

Author

Bergson, S., Sarig, O., Nitzan, A., Hainzl, S., Kocher, T., Giladi, M., Illmer, J., Mohamad, J., Geller, E., Malovitski, K., Feller, Y., Kdosha, N. Eretz, Zauner, R., Hofbauer, J. Pinon, Shalom-Feuerstein, R., Wally, V., Koller, U., Zaidel-Bar, R., Samuelov, L., and Sprecher, E.

Published
2023
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248. P1-06-23: Changes in Gene Expression after One Dose of Trastuzumab (T) in HER2+ Breast Cancer Cell Lines Predict Novel Pathways of Response in HER2 Positive Early Stage Breast Cancer.

Author

Sprecher, E, primary, Lezon-Geyda, K, additional, Sarkar, S, additional, Bossuyt, V, additional, Narayaan, M, additional, Kumar, A, additional, Krop, I, additional, Winer, E, additional, Tuck, D, additional, Kleinstein, S, additional, and Harris, L, additional

Published
2011
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