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BBS1

BBS1

Protein

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

BBS1

BBSome

Protein complex involved in cilium biogenesis

proteins (BBS1, BBS2, BBS4, BSS5, BBS7, BBS8, and BBS9). They also discovered the relationship between the subunits of interactions of BBS1/BBS2/BBS7

BBSome

Bardet–Biedl syndrome

Ciliopathic recessive genetic disorder

26 different genes had been identified. Genes involved include: BBsome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12

Bardet–Biedl syndrome

Bardet–Biedl_syndrome

Human genome

Complete set of nucleic acid sequences for humans

disease (genes RET and FECH), Bardet-Biedl syndrome 1 (genes CCDC28B and BBS1), Bardet-Biedl syndrome 10 (gene BBS10), and facioscapulohumeral muscular

Human genome

Human_genome

ISCABBS

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

ISCABBS

Vaginal atresia

Abnormal closure or absence of the vagina

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

Vaginal atresia

Vaginal_atresia

Big Brother (franchise)

Dutch reality game show franchise

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

Big Brother (franchise)

Big_Brother_(franchise)

WDC 65C02

CMOS microprocessor in the 6502 family

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

WDC 65C02

WDC_65C02

Ciliopathy

Genetic disease resulting in abnormal formation or function of cilia

IFT80, IFT139, IFT140, IFT144, WDR35 Bardet–Biedl syndrome 209900 ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS, MKS1, MKS3, SDCCAG8, TTC8

Ciliopathy

List of human protein-coding genes 1

HGNC:17823; Q9BUW7 1443 BBOF1 HGNC:19855; Q8ND07 1444 BBOX1 HGNC:964; O75936 1445 BBS1 HGNC:966; Q8NFJ9 1446 BBS2 HGNC:967; Q9BXC9 1447 BBS4 HGNC:969; Q96RK4 1448

List of human protein-coding genes 1

List_of_human_protein-coding_genes_1

BBS2

Protein-coding gene in the species Homo sapiens

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

BBS2

MKKS

Protein-coding gene in the species Homo sapiens

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

MKKS

Rivka Carmi

Israeli pediatrician and geneticist (born 1948)

Luan M.; Cornier, Alberto S. (1 August 2002). "Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity

Rivka Carmi

Rivka_Carmi

EHD1

Protein-coding gene in the species Homo sapiens

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

EHD1

BBS7

Protein-coding gene in the species Homo sapiens

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

BBS7

List of OMIM disorder codes

Bannayan–Riley–Ruvalcaba syndrome; 153480; PTEN Bardet–Biedl syndrome 1; 209900; BBS1 Bardet–Biedl syndrome 10; 209900; BBS10 Bardet–Biedl syndrome 11; 209900;

List of OMIM disorder codes

List_of_OMIM_disorder_codes

BBS10

Gene

Zawadzki RJ, Werner JS, Héon E (2008). "Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical

BBS10