Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations...
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called BBS1 (circa 1985) which was accessed from its creator's personal account "astran" on the University of Iowa mainframe computer PrimeA. BBS1 was created...
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proteins (BBS1, BBS2, BBS4, BSS5, BBS7, BBS8, and BBS9). They also discovered the relationship between the subunits of interactions of BBS1/BBS2/BBS7...
53 KB (6,700 words) - 22:46, 6 March 2025
Finland (BB5) and Philippines (PBB3) in 2009; Finland (BB6) and Slovenia (BBS1) in 2010; Spain (GH12) and Israel (HH3) in 2010–11; Finland (BB7) and Norway...
200 KB (11,074 words) - 00:55, 23 May 2025
disease (genes RET and FECH), Bardet-Biedl syndrome 1 (genes CCDC28B and BBS1), Bardet-Biedl syndrome 10 (gene BBS10), and facioscapulohumeral muscular...
99 KB (10,102 words) - 13:33, 2 May 2025
patients after their early years of life. Genes involved include: BBsome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12...
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renal anomalies, anosmia, hypogonadism, congenital heart disease ARL6, BBS1-12, CEP290, MKKS, MKS1, MKS3, SDCCAG8, TRIM32, WDPCP Skeletal anomaly, kidney...
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condition. Some of the gene mutations that occur in BBS are listed below: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10...
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component of the instruction is often written as part of the mnemonic, such as BBS1 $12,addr which branches to the address label addr if bit 1 of the byte at...
38 KB (4,596 words) - 20:20, 16 May 2025
HGNC:17823 Q9BUW7 1441 BBOF1 HGNC:19855 Q8ND07 1442 BBOX1 HGNC:964 O75936 1443 BBS1 HGNC:966 Q8NFJ9 1444 BBS2 HGNC:967 Q9BXC9 1445 BBS4 HGNC:969 Q96RK4 1446...
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Badano JL, Kim JC, Hoskins BE, et al. (2003). "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients...
7 KB (811 words) - 19:18, 13 January 2024
Zawadzki RJ, Werner JS, Héon E (2008). "Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical...
6 KB (796 words) - 08:06, 23 November 2021
Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am. J. Hum. Genet. 72 (3): 650–8. doi:10.1086/368204. PMC 1180240...
4 KB (546 words) - 21:55, 18 August 2023
Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2". Am. J. Hum. Genet. 72 (3): 650–8. doi:10.1086/368204. PMC 1180240...
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Luan M.; Cornier, Alberto S. (1 August 2002). "Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity...
28 KB (2,737 words) - 23:38, 26 January 2025
characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1)". Gene. 240 (1): 227–32. doi:10.1016/S0378-1119(99)00395-9. PMID 10564830...
10 KB (937 words) - 07:32, 14 August 2023
Bannayan–Riley–Ruvalcaba syndrome; 153480; PTEN Bardet–Biedl syndrome 1; 209900; BBS1 Bardet–Biedl syndrome 10; 209900; BBS10 Bardet–Biedl syndrome 11; 209900;...
234 KB (18,877 words) - 18:07, 24 March 2025