150 related articles for article (PubMed ID: 15316960)
1. CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome.
Caux F; Selma ZB; Laroche L; Prud'homme JF; Fischer J
Am J Med Genet A; 2004 Aug; 129A(2):214. PubMed ID: 15316960
[No Abstract] [Full Text] [Related]
2. Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.
Akiyama M; Sawamura D; Nomura Y; Sugawara M; Shimizu H
J Invest Dermatol; 2003 Nov; 121(5):1029-34. PubMed ID: 14708602
[TBL] [Abstract][Full Text] [Related]
3. Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.
Badeloe S; van Geel M; Nagtzaam I; Rubio-Gozalbo ME; Oei RL; Steijlen PM; van Steensel MA
Br J Dermatol; 2008 Jun; 158(6):1378-80. PubMed ID: 18410411
[No Abstract] [Full Text] [Related]
4. A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.
Ben Selma Z; Yilmaz S; Schischmanoff PO; Blom A; Ozogul C; Laroche L; Caux F
J Invest Dermatol; 2007 Sep; 127(9):2273-6. PubMed ID: 17495960
[No Abstract] [Full Text] [Related]
5. Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation.
Srinivasan R; Hadzić N; Fischer J; Knisely AS
J Pediatr; 2004 May; 144(5):662-5. PubMed ID: 15127008
[TBL] [Abstract][Full Text] [Related]
6. Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene.
Solomon C; Bernier L; Germain L; Dufour R; Davignon J
Arch Dermatol; 2006 Mar; 142(3):402-3. PubMed ID: 16549731
[No Abstract] [Full Text] [Related]
7. Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.
Schleinitz N; Fischer J; Sanchez A; Veit V; Harle JR; Pelissier JF
Arch Dermatol; 2005 Jun; 141(6):798-800. PubMed ID: 15967942
[No Abstract] [Full Text] [Related]
8. Fat breakdown: a function for CGI-58 (ABHD5) provides a new piece of the puzzle.
Yen CL; Farese RV
Cell Metab; 2006 May; 3(5):305-7. PubMed ID: 16679288
[TBL] [Abstract][Full Text] [Related]
9. CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.
Ghosh AK; Ramakrishnan G; Chandramohan C; Rajasekharan R
J Biol Chem; 2008 Sep; 283(36):24525-33. PubMed ID: 18606822
[TBL] [Abstract][Full Text] [Related]
10. Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.
Ohno Y; Nara A; Nakamichi S; Kihara A
J Dermatol Sci; 2018 Dec; 92(3):245-253. PubMed ID: 30527376
[TBL] [Abstract][Full Text] [Related]
11. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.
Pujol RM; Gilaberte M; Toll A; Florensa L; Lloreta J; González-Enseñat MA; Fischer J; Azon A
Br J Dermatol; 2005 Oct; 153(4):838-41. PubMed ID: 16181472
[TBL] [Abstract][Full Text] [Related]
12. Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
Yamaguchi T; Osumi T
Biochim Biophys Acta; 2009 Jun; 1791(6):519-23. PubMed ID: 19061969
[TBL] [Abstract][Full Text] [Related]
13. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.
Lass A; Zimmermann R; Haemmerle G; Riederer M; Schoiswohl G; Schweiger M; Kienesberger P; Strauss JG; Gorkiewicz G; Zechner R
Cell Metab; 2006 May; 3(5):309-19. PubMed ID: 16679289
[TBL] [Abstract][Full Text] [Related]
14. Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.
Emre S; Unver N; Evans SE; Yüzbaşioğlu A; Gürakan F; Gümrük F; Karaduman A
Eur J Med Genet; 2010; 53(3):141-4. PubMed ID: 20307695
[TBL] [Abstract][Full Text] [Related]
15. Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.
Ünlüsoy-Aksu A; Sarı S; Eğritaş-Gürkan Ö; Dalgıç B
Turk J Pediatr; 2015; 57(3):300-3. PubMed ID: 26701953
[TBL] [Abstract][Full Text] [Related]
16. [Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity].
Fischer J; Negre-Salvayre A; Salvayre R
Med Sci (Paris); 2007; 23(6-7):575-8. PubMed ID: 17631826
[No Abstract] [Full Text] [Related]
17. Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.
Srinivasaraghavan R; Krishnamurthy S; Chandar R; Cassandrini D; Mahadevan S; Bruno C; Santorelli FM
Pediatr Dermatol; 2014; 31(5):612-4. PubMed ID: 23756328
[TBL] [Abstract][Full Text] [Related]
18. Maternal Isodisomy of Chromosome 3 Combined with a
Kopp J; Has C; Hotz A; Grünert SC; Fischer J
Genes (Basel); 2021 Jul; 12(8):. PubMed ID: 34440338
[TBL] [Abstract][Full Text] [Related]
19. Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome.
Luu Y; Pithadia DJ; Teng J; Khuu P
Pediatr Dermatol; 2023; 40(5):879-881. PubMed ID: 36709747
[TBL] [Abstract][Full Text] [Related]
20. Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.
Nur BG; Gencpinar P; Yuzbasıoglu A; Emre SD; Mihci E
Eur J Med Genet; 2015 Apr; 58(4):238-42. PubMed ID: 25682902
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
