Relevant bibliographies by topics / Syndrome de Chanarin-Dorfman

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters

Academic literature on the topic 'Syndrome de Chanarin-Dorfman'

Author: Grafiati
Published: 4 June 2021
Last updated: 6 February 2022

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Journal articles on the topic "Syndrome de Chanarin-Dorfman"

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Srebrnik, Avigdor, Ethel Tur, Chaim Perluk, Monica Elman, Glenda Messer, Bianca Ilie, and Anatol Krakowski. "Dorfman-Chanarin syndrome." Journal of the American Academy of Dermatology 17, no. 5 (November 1987): 801–8. http://dx.doi.org/10.1016/s0190-9622(87)70266-7.

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Gandhi, Vijay, Puneet Aggarwal, Jyoti Dhawan, UshaRani Singh, and SN Bhattacharya. "Dorfman-Chanarin syndrome." Indian Journal of Dermatology, Venereology and Leprology 73, no. 1 (2007): 36. http://dx.doi.org/10.4103/0378-6323.30650.

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Nanda, Arti, Rajeev Sharma, Amrinder J. Kanwar, Surrinder Kaur, and Sumitra Dash. "Dorfman-Chanarin Syndrome." International Journal of Dermatology 29, no. 5 (June 1990): 349–51. http://dx.doi.org/10.1111/j.1365-4362.1990.tb04758.x.

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4

Ranglani, Harshal, and Pankaj Shukla. "Chanarin–Dorfman syndrome." Indian Journal of Paediatric Dermatology 21, no. 1 (2020): 42. http://dx.doi.org/10.4103/ijpd.ijpd_95_19.

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Demir, B., A. Sen, L. Bilik, U. Deveci, I. H. Ozercan, D. Cicek, and Y. Dogan. "Chanarin-Dorfman syndrome." Clinical and Experimental Dermatology 42, no. 6 (June 21, 2017): 699–701. http://dx.doi.org/10.1111/ced.13163.

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Srebrnik, Avigdor, Sarah Brenner, Bianca Ilie, and Glenda Messer. "Dorfman-Chanarin Syndrome." American Journal of Dermatopathology 20, no. 1 (February 1998): 79–85. http://dx.doi.org/10.1097/00000372-199802000-00016.

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Chilkar, Sujeet, Pradnya Paikrao, and Ira Shah. "Dorfman-Chanarin syndrome." Indian Journal of Gastroenterology 31, no. 3 (June 2012): 147–48. http://dx.doi.org/10.1007/s12664-012-0212-2.

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Barnérias, Christine, Guillaume Bassez, and Olivier Schischmanoff. "Syndrome de Chanarin-Dorfman." médecine/sciences 31 (November 2015): 11–13. http://dx.doi.org/10.1051/medsci/201531s303.

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Ersoy, Özdal, Canan Alkım, Mehmet Derya Onuk, Hüseyin Demirsoy, and Dilek Argon. "A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report." International Journal of Hepatology 2011 (2011): 1–4. http://dx.doi.org/10.4061/2011/341372.

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Abstract:
Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries. Here, we report a 20-year-old patient with ichthyosis from Turkey, diagnosed as Chanarin-Dorfman syndrome presented with asypmtomatic elevated transaminases and hepatosteatosis, and also briefly review the updated clinical implications and management of this rarely seen syndrome. Prompt diagnosis of this syndrome avoids further unnecessary investigations in patients with ichthyosis
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10

Gupta, P., Kajal Kiran Dhingra, Vibha Kawatra, T. Singh, and S. Yadav. "Dorfman–Chanarin syndrome with cirrhosis." Pathology 40, no. 6 (October 2008): 650–53. http://dx.doi.org/10.1080/00313020802321166.

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Dissertations / Theses on the topic "Syndrome de Chanarin-Dorfman"

1

Roussel, Benjamin. "Étude biochimique d’ABHD5 dans le syndrome de Dorfman-Chanarin et en condition physiologique." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCD021/document.

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ABHD5 est mutée dans le syndrome de Dorfman-Chanarin (SDC), maladie de surcharge comportant une ichtyose liée à une acanthose et une hyperkératose orthokératosique, ainsi que des vacuoles lipidiques intrakératinocytaires et des corps lamellaires anormaux. Les mécanismes de l’ichtyose sont mal compris. Certaines ichtyoses étant associées à une anomalie des céramides, nous les avons analysés chez 7 patients. Nous avons identifié 4 mutations différentes, dont 2 nouvelles, 1 faux sens et 1 délétion large de 15,9kb. Chez tous les patients, certains céramides épidermiques étaient très diminués mais l’expression des enzymes impliquées dans leur synthèse était peu modifiée. ABHD5 pouvant intervenir indirectement sur ces céramides, nous avons recherché des partenaires d’ABHD5 et identifié les périlipines 1, 2 et 3 (PLIN3). PLIN3 est un nouveau partenaire d’ABHD5, impliquée dans le transport des endosomes via Rab9. La proximité entre ABHD5 et PLIN3 a été démontrée par PLA (test de proximité protéique) dans l’épiderme humain et PLIN3 était peu exprimée dans l’épiderme du SDC. Ces données suggèrent que l’ichtyose du SDC ferait intervenir un défaut dans le trafic des corps lamellaires. Nous avons identifié de nouveaux transcrits alternatifs d’ABHD5, 1 chez la souris (absence d’exon 2) et 4 chez l’Homme (absence des exons 6, 5, début de l’exon 6, 5 et 6). En western blot, la forme complète d’ABHD5 a été retrouvée, ainsi que des bandes accessoires dans des extraits d’épiderme et d’hypoderme humains. Certaines de ces bandes avaient un poids moléculaire compatible avec celui prédit pour les isoformes protéiques. Mais, ni ces isoformes, ni la forme complète d’ABHD5 n’ont été identifiées par spectrométrie de masse
ABHD5 is a lipase activator whose mutations induce triacylglycerol accumulation called Dorfman–Chanarin syndrome (DCS). DCS is characterized by ichthyosiform erythroderma resulting from acanthosis and orthokeratotic hyperkeratosis. Ultrastructural findings include lipid droplets in basal and granular layers and abnormal lamellar bodies. The ichthyosis pathomechanism is unclear. Because some ichthyoses are associated with defective ceramide syntheses, we examined ceramides in 7 DCS patients. ABHD5 genetic analysis identified 4 different mutations, including 2 original, 1 missense and 1 large deletion. Epidermal ceramides were very low in all DCS patients but expression of ceramide genesis-related enzymes was minimally changed. Because ABHD5 might act indirectly on ceramides, we tried to identify ABHD5 partners. Three interactors were detected : perilipin-1, -2 and -3 (PLIN3) ; the latter is a new partner and involved in endosome transport through Rab9. PLA (protein proximity assay) demonstrated PLIN3’s physical closeness to ABHD5 in epidermis and PLIN3 was weakly expressed in DCS epidermis. These findings suggest that DCS-ichthyosis is linked to a trafficking defect of lamellar granules. Then we identified new ABHD5 alternative transcripts, 1 in mice (absence of exon 2) and 4 in human (absence of exon 6, 5, beginning of 6, 5 and 6). The full length ABHD5 and accessory bands were shown by western blot using human epidermis and fat extracts. The molecular weight of some of these bands was compatible with the predicted molecular weight of the isoforms encoded by these alternative transcripts. However, we were unable to identify these isoforms, nor the full length ABHD5 by mass spectrometry
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2

Ben, Selma Mohamed Zied. "Syndrome de Dorfman-Chanarin. Etudes biochimique et fonctionnnelle de la protéine CGI- 58 humaine. Description de nouvelles mutations du gène CGI-58/." Paris 13, 2007. http://www.theses.fr/2007PA132037.

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Le syndrome de Dorfman-Chanarin (DCS) est caractérisé par une érythrodermie ichtyosiforme associée à une accumulation tissulaire de triglycérides et est lié à des mutations d'un nouveau gène, CGI-58. En RT-PCR quantitative en temps réel, nous avons observé une expression ubiquitaire du transcrit de CGI-58, très forte dans la graisse et forte dans l'épiderme humain. La protèine CGI-58 a une localisation cytoplasmique et sa forme rombinante CGI-58-6His-myc a un poids moléculaire apparent de 47 kDa et n'est pas N-glycosylée. Sur le plan fonctionnel, nous avons retrouve une modulation épidermique de l'expression du gène CGI-58 in vivo et une coordination avec l'expression des gènes de l'ADRP, la périlipine, l'ATGL, TIP47 ert la flotilline-1 en fonction de la différenciation des cellules HaCaT in vitro. Enfin nous avons identifié une nouvelle mutation déjà connue, 773 -1 G>A, chez trois patients tunisiens évoquant une effet fondateur. Nos résultats obtenus chez l'homme suggèrent que CGI-58 intervienne dans la différenciation kératinocytaire par le biais du métabiolisme lipidique
Dorfman-Chanarin syndrome (DCS) is a recessive disease characterrized by an ichthyosiform erythroderma associated with a diffuse tissular accumulation of triacylglycerol and mutations in a new gene, CGI-58. Ananlysis of CGI-58 mPNA with real time RT-PCR showed an ubiquitous distribution with an overexpression in fat tissue and epidermis. Using indirect IF, a diffuse cytoplasùmic staining was observed on all studied cell types. The recombinant form of CGI-58-6His-myc protein had a molecular weight of around 47 kDa and was not N-glycosylated. Functional analyses showed that CGI-58 was modulated un epidermis in vivo and that CGI-58 had a coordionated expression with the main genes involved in lipid metabolism (ADRP, perilipin, ATGL, TIP47 and flotilline-1) during epidermal differentiation in vitro. Finally we demonstrated a new homozygous A-to-G transition at position 343 converting the serine-115 to a glycine in a turkish DCS patient and a homozygous splice-site mutation G-to-A transition at position 773-1 in 3 tunisian patients. Our reults in human are in favor of a role of CGI-58 in epidermal differentiation through its interaction with lipid metabolism
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3

Solomon, Crina Cristina. "Un cas sévère d'ichthyose huileuse chez deux jumelles monozygotes diffère du syndrome de Chanarin-Dorfman et constitue une nouvelle entité nosologique." Thèse, 2005. http://hdl.handle.net/1866/15315.

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Book chapters on the topic "Syndrome de Chanarin-Dorfman"

1

Angelini, Corrado. "Neutral Lipid Storage Disease with Ichthyosis, Chanarin-Dorfman Syndrome." In Genetic Neuromuscular Disorders, 313–17. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56454-8_81.

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Angelini, Corrado. "Neutral Lipid Storage Disease with Ichthyosis, Chanarin-Dorfman Syndrome." In Genetic Neuromuscular Disorders, 267–71. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07500-6_61.

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3

"Chanarin-Dorfman syndrome." In Dermatology Therapy, 123. Berlin, Heidelberg: Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/3-540-29668-9_537.

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"Dorfman Chanarin syndrome." In Dermatology Therapy, 191. Berlin, Heidelberg: Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/3-540-29668-9_839.

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