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Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M. Gupta N, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):9-19. doi: 10.1002/ajmg.c.31970. Epub 2022 Apr 4. Am J Med Genet C Semin Med Genet. 2022. PMID: 35373910 Free PMC article. Review.
Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. ...It is well established that eight BBS proteins, namely BBS1, 2, 4, 5, 7, 8, 9, and 18, form the BBSome, a multiprotein complex serving as a regulator of ciliary membra
Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. ...It is well established that eight
Alström syndrome. Report of 22 cases and literature review.
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Russell-Eggitt IM, et al. Ophthalmology. 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. Ophthalmology. 1998. PMID: 9663233 Review.
The authors review the clinical features and compare these with the overlapping condition of Bardet-Biedl syndrome. Their aim is to clarify the AS phenotype and to increase awareness of the early features. ...Initially, a diagnosis of cone-rod dystrophy, achr …
The authors review the clinical features and compare these with the overlapping condition of Bardet-Biedl syndrome. The …
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.
Blacque OE, Leroux MR. Blacque OE, et al. Cell Mol Life Sci. 2006 Sep;63(18):2145-61. doi: 10.1007/s00018-006-6180-x. Cell Mol Life Sci. 2006. PMID: 16909204 Review.
From a handful of uncloned genetic loci 6 years ago, great strides have been made in understanding the genetic and molecular aetiology of Bardet-Biedl syndrome (BBS), a rare pleiotropic disorder characterised by a multitude of symptoms, including obesity, ret …
From a handful of uncloned genetic loci 6 years ago, great strides have been made in understanding the genetic and molecular aetiology of …
Wnt signaling in polycystic kidney disease.
Benzing T, Simons M, Walz G. Benzing T, et al. J Am Soc Nephrol. 2007 May;18(5):1389-98. doi: 10.1681/ASN.2006121355. Epub 2007 Apr 11. J Am Soc Nephrol. 2007. PMID: 17429050 Review.
Some polycystic kidney disease proteins, such as Inversin and Bardet-Biedl syndrome family members, were found to use components of the Wnt signaling cascade to orient cells along a secondary polarity axis within the plane of the epithelium. ...
Some polycystic kidney disease proteins, such as Inversin and Bardet-Biedl syndrome family members, were found to use c …
[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency].
Chalvon-Demersay A, Tardieu M, Crosnier H, Bénichou JJ, Pienkowski C, Rochiccioli P, Labrune B. Chalvon-Demersay A, et al. Arch Fr Pediatr. 1993 Dec;50(10):859-62. Arch Fr Pediatr. 1993. PMID: 8053762 Review. French.
BACKGROUND: The features of Laurence-Moon syndrome vary widely from mental retardation, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia. Like Bardet-Biedl syndrome, its inheritance …
BACKGROUND: The features of Laurence-Moon syndrome vary widely from mental retardation, hypogenitalism to retinopathy; the dominant o …