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Items: 1 to 20 of 46

1.

Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).

Lambrecht C, Wouters C, Van Esch H, Moens P, Casteels I, Morren MA.

Pediatr Dermatol. 2014 Jul-Aug;31(4):493-6. doi: 10.1111/pde.12336. Epub 2014 Jun 11.

PMID:
24915996
2.

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.

Barboza-Cerda MC, Wong LJ, Martínez-de-Villarreal LE, Zhang VW, Déctor MA.

Am J Med Genet A. 2014 Jul;164A(7):1642-7. doi: 10.1002/ajmg.a.36508. Epub 2014 Apr 3.

PMID:
24700572
3.

Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Δ8,7-sterol isomerase in cholesterol biosynthesis.

Krojer M, Müller C, Bracher F.

Arch Pharm (Weinheim). 2014 Feb;347(2):108-22. doi: 10.1002/ardp.201300296. Epub 2013 Dec 4.

PMID:
24493593
4.

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Hartill VL, Tysoe C, Manning N, Dobbie A, Santra S, Walter J, Caswell R, Koster J, Waterham H, Hobson E.

Am J Med Genet A. 2014 Apr;164A(4):907-14. doi: 10.1002/ajmg.a.36368. Epub 2014 Jan 23.

PMID:
24459067
5.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R.

Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2. Review.

PMID:
22121851
6.

Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.

Morice-Picard F, Kostrzewa E, Wolf C, Benlian P, Taïeb A, Lacombe D.

Arch Dermatol. 2011 Sep;147(9):1073-6. doi: 10.1001/archdermatol.2011.230.

PMID:
21931045
7.

Chondrodysplasia Punctata 2, X-Linked.

Dempsey MA, Tan C, Herman GE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 May 31.

8.

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.

Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.

Eur J Dermatol. 2008 Jul-Aug;18(4):391-3. doi: 10.1684/ejd.2008.0433. Epub 2008 Jun 23.

PMID:
18573709
9.

Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome.

Steijlen PM, van Geel M, Vreeburg M, Marcus-Soekarman D, Spaapen LJ, Castelijns FC, Willemsen M, van Steensel MA.

Br J Dermatol. 2007 Dec;157(6):1225-9. Epub 2007 Oct 18.

PMID:
17949453
10.

A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.

Rakheja D, Read CP, Hull D, Boriack RL, Timmons CF.

Pediatr Dev Pathol. 2007 Mar-Apr;10(2):142-8. Review.

PMID:
17378690
11.

SR31747A is a sigma receptor ligand exhibiting antitumoural activity both in vitro and in vivo.

Berthois Y, Bourrié B, Galiègue S, Vidal H, Carayon P, Martin PM, Casellas P.

Br J Cancer. 2003 Feb 10;88(3):438-46.

12.

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.

Shirahama S, Miyahara A, Kitoh H, Honda A, Kawase A, Yamada K, Mabuchi A, Kura H, Yokoyama Y, Tsutsumi M, Ikeda T, Tanaka N, Nishimura G, Ohashi H, Ikegawa S.

Hum Genet. 2003 Jan;112(1):78-83. Epub 2002 Oct 24.

PMID:
12483303
13.
14.

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.

Has C, Bruckner-Tuderman L, Müller D, Floeth M, Folkers E, Donnai D, Traupe H.

Hum Mol Genet. 2000 Aug 12;9(13):1951-5.

PMID:
10942423
15.

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D.

Nat Genet. 1999 Jul;22(3):291-4.

16.
17.

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression.

Hanner M, Moebius FF, Weber F, Grabner M, Striessnig J, Glossmann H.

J Biol Chem. 1995 Mar 31;270(13):7551-7.

18.

Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin.

Miao M, Reichheld SE, Muiznieks LD, Huang Y, Keeley FW.

Biochemistry. 2013 Nov 5;52(44):7731-41. doi: 10.1021/bi400760f. Epub 2013 Oct 24.

PMID:
24106871
19.

Functional analysis of cholesterol biosynthesis by RNA interference.

Guggenberger C, Ilgen D, Adamski J.

J Steroid Biochem Mol Biol. 2007 May;104(3-5):105-9. Epub 2007 Mar 12.

PMID:
17498944
20.

Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity.

Moebius FF, Fitzky BU, Wietzorrek G, Haidekker A, Eder A, Glossmann H.

Biochem J. 2003 Aug 15;374(Pt 1):229-37.

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