Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene. The MKS1 protein along with meckelin are part of the...
6 KB (760 words) - 06:05, 18 December 2023
is an autosomal recessive lethal malformation. Recently, two MKS genes, MKS1 and MKS3, have been identified. A study done recently has described the cellular...
10 KB (942 words) - 21:58, 3 November 2024
BBS5, BBS7, TTC8/BBS8, BBS10, TRIM32/BBS11 BBS12, CCDC28B, CEP290, TMEM67, MKS1, MKKS chaperone: BBS6[citation needed] The diagnosis of BBS is established...
15 KB (1,432 words) - 05:31, 17 June 2024
Austin/MG/Rover Maestro (1983–1994) Austin/MG/Rover Montego (1984–1994) Ford Fiesta Mks1, 2 and 3 (1976–1995) The lack of security in older cars compared to modern...
8 KB (1,016 words) - 10:16, 26 May 2024
Lemley, Bethan; Pazour, Gregory J.; Lo, Cecilia W. (2011). "Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental...
19 KB (2,210 words) - 12:20, 3 November 2024
Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, et al. (August 2016). "MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum". European...
18 KB (1,543 words) - 12:28, 11 June 2024
had been reported almost exclusively in Finland. Meckel syndrome type 1 (MKS1), a lethal condition, is known in 48 Finnish families. The European Organization...
13 KB (1,459 words) - 14:53, 10 October 2024
; Kohlschmidt, N.; Paavola-Sakki, P.; Peltonen, L.; Kestilä, M. (2006). "MKS1, encoding a component of the flagellar apparatus basal body proteome, is...
12 KB (1,204 words) - 14:44, 23 August 2023
BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12, MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15), SDCCAG8 (BBS16), LZTFL1 (BBS17),...
18 KB (2,184 words) - 17:44, 17 April 2024
PMID 19876933. Kyttälä M (May 2006). "Identification of the Meckel Syndrome Gene (MKS1) Exposes a Novel Ciliopathy" (PDF). National Public Health Institute. Archived...
35 KB (2,499 words) - 18:40, 12 July 2024
PMID 17160906. Khaddour R, Smith U, Baala L, et al. (2007). "Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation....
6 KB (722 words) - 17:52, 13 October 2022
HGNC:7113 Q9H000 9619 MKRN2OS HGNC:40375 H3BPM6 9620 MKRN3 HGNC:7114 Q13064 9621 MKS1 HGNC:7121 Q9NXB0 9622 MKX HGNC:23729 Q8IYA7 9623 MLANA HGNC:7124 Q16655 9624...
277 KB (17 words) - 18:41, 6 October 2024
signaling. Substrates of MPK4 are three proteins: WRKY33, WRKY25, and MKS1. Ternary MKS1-MPK4-WRKY33 complexes have been recognized by nuclear extracts. Recruitment...
9 KB (1,222 words) - 14:50, 25 July 2024
lethal microphthalmia FREM1 AR Manitoba oculotrichoanal syndrome (MOTA) MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L AR Meckel–Gruber syndrome types 1-5 unknown...
13 KB (538 words) - 09:46, 18 March 2024
Bardet–Biedl syndrome 12; 209900; BBS12 Bardet–Biedl syndrome 13; 209900; MKS1 Bardet–Biedl syndrome 14; 209900; CEP290 Bardet–Biedl syndrome 15; 209900;...
234 KB (18,877 words) - 15:43, 9 May 2024