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Items: 10

1.

Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.

Reschen M, Kini U, Hood RL, Boycott KM, Hurst J, O'Callaghan CA.

Am J Med Genet A. 2012 Dec;158A(12):3196-200. doi: 10.1002/ajmg.a.35635. Epub 2012 Nov 19.

PMID:
23165645
2.

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V.

Hum Mutat. 2013 Jan;34(1):88-92. doi: 10.1002/humu.22216. Epub 2012 Oct 16.

PMID:
22965468
3.

Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

GarcĂ­a RJ, Kant SG, Wit JM, Mericq V.

J Pediatr Endocrinol Metab. 2012;25(1-2):207-12.

PMID:
22570979
4.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium., Majewski J, Bulman DE, White SM, Boycott KM.

Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19.

5.

The chromatin remodeling protein, SRCAP, is critical for deposition of the histone variant H2A.Z at promoters.

Wong MM, Cox LK, Chrivia JC.

J Biol Chem. 2007 Sep 7;282(36):26132-9. Epub 2007 Jul 8.

6.

Purification of a human SRCAP complex that remodels chromatin by incorporating the histone variant H2A.Z into nucleosomes.

Ruhl DD, Jin J, Cai Y, Swanson S, Florens L, Washburn MP, Conaway RC, Conaway JW, Chrivia JC.

Biochemistry. 2006 May 2;45(17):5671-7.

PMID:
16634648
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9.

Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein.

Johnston H, Kneer J, Chackalaparampil I, Yaciuk P, Chrivia J.

J Biol Chem. 1999 Jun 4;274(23):16370-6.

10.

A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome).

Robinson PL, Shohat M, Winter RM, Conte WJ, Gordon-Nesbitt D, Feingold M, Laron Z, Rimoin DL.

J Pediatr. 1988 Oct;113(4):703-6. No abstract available.

PMID:
3171794

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