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Page 1
Bardet-Biedl Syndrome Overview.
Forsyth R, Gunay-Aygun M. Forsyth R, et al. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301537 Free Books & Documents. Review.
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
Hirayama S, Yamazaki Y, Kitamura A, Oda Y, Morito D, Okawa K, Kimura H, Cyr DM, Kubota H, Nagata K. Hirayama S, et al. Mol Biol Cell. 2008 Mar;19(3):899-911. doi: 10.1091/mbc.e07-07-0631. Epub 2007 Dec 19. Mol Biol Cell. 2008. PMID: 18094050 Free PMC article.
Inhibition of proteasome functions causes MKKS mutants to form insoluble structures at the centrosome. CHIP and partner chaperones, including heat-shock protein (HSP)70/heat-shock cognate 70 and HSP90, strongly recognize MKKS mutants. Modest knockdown of CHIP by RNA …
Inhibition of proteasome functions causes MKKS mutants to form insoluble structures at the centrosome. CHIP and partner chaperones, i …
McKusick-Kaufman Syndrome.
Slavotinek AM. Slavotinek AM. 2002 Sep 10 [updated 2020 Dec 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Sep 10 [updated 2020 Dec 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301675 Free Books & Documents. Review.
The molecular diagnosis can be established in proband with suggestive findings and biallelic pathogenic variants in MKKS identified by molecular genetic testing. However, care must be taken to ensure that the proband does not have Bardet-Biedl syndrome, an allelic conditio …
The molecular diagnosis can be established in proband with suggestive findings and biallelic pathogenic variants in MKKS identified b …
[Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome].
Li H, Hu Z. Li H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):754-758. doi: 10.3760/cma.j.cn511374-20220427-00285. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35810436 Chinese.
Sanger sequencing of the proband and her mother confirmed that the proband has harbored two compound heterozygous MKKS variants and a heterozygous TMEM67 variant. Both of the MKKS variants were previously unreported and located in a highly conserved domain and predi …
Sanger sequencing of the proband and her mother confirmed that the proband has harbored two compound heterozygous MKKS variants and a …
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC. Fath MA, et al. Hum Mol Genet. 2005 May 1;14(9):1109-18. doi: 10.1093/hmg/ddi123. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772095
To further explore the pathophysiology of BBS and the related disorder MKS, we have developed an Mkks(-/-) mouse model. This model shows that the absence of Mkks leads to retinal degeneration through apoptosis, failure of spermatozoa flagella formation, elevated blo …
To further explore the pathophysiology of BBS and the related disorder MKS, we have developed an Mkks(-/-) mouse model. This model sh …
Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin.
Goyal S, Singh IR, Vanita V. Goyal S, et al. Clin Exp Ophthalmol. 2020 Apr;48(3):343-355. doi: 10.1111/ceo.13719. Epub 2020 Feb 3. Clin Exp Ophthalmol. 2020. PMID: 31989739
CONCLUSIONS: Present study is the second report of identifying a novel mutation in MKKS/BBS6 that is linked with arRP in association with polydactyly, however, with no other signs of BBS or MKKS. These findings further expand the mutation spectrum of MKKS/BBS …
CONCLUSIONS: Present study is the second report of identifying a novel mutation in MKKS/BBS6 that is linked with arRP in association …
Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet-Biedl Syndrome.
Dehghan R, Behnam M, Salehi M, Kelishadi R. Dehghan R, et al. Case Rep Ophthalmol Med. 2022 Jul 21;2022:6110775. doi: 10.1155/2022/6110775. eCollection 2022. Case Rep Ophthalmol Med. 2022. PMID: 35912300 Free PMC article.
In three out of four children, we identified one previously reported frameshifting variant in the BBS12 gene (c.265-266delTT, p.L89fs) and two novel nonsense variants in MKKS (c.1196T>G, p.L399X) and BBS7 genes (c.1636C>T, p.Q546X). In the other child, no mutations w …
In three out of four children, we identified one previously reported frameshifting variant in the BBS12 gene (c.265-266delTT, p.L89fs) and t …
Mutations in MKKS cause Bardet-Biedl syndrome.
Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Slavotinek AM, et al. Nat Genet. 2000 Sep;26(1):15-6. doi: 10.1038/79116. Nat Genet. 2000. PMID: 10973238
The probands were from families unsuitable for linkage because of family size. We found MKKS mutations in four typical BBS probands (Table 1). The first is a 13-year-old Hispanic girl with severe RP, PAP, mental retardation and obesity (BMI >40). ...Both parents and the …
The probands were from families unsuitable for linkage because of family size. We found MKKS mutations in four typical BBS probands ( …
Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet-Biedl Syndrome.
Huang L, Sun L, Wang Z, Li S, Chen C, Luo X, Ding X. Huang L, et al. J Ophthalmol. 2021 Jan 6;2021:6751857. doi: 10.1155/2021/6751857. eCollection 2021. J Ophthalmol. 2021. PMID: 33520300 Free PMC article.
RESULTS: Novel compound heterozygous variants c.235T > G (p.T79P) and c.534 + 1G > T were detected in the BBS2 gene in family A, and known homozygous variant c.748G > A (p.G250R) was detected in the MKKS gene in family B. Both families presented with retinitis pig …
RESULTS: Novel compound heterozygous variants c.235T > G (p.T79P) and c.534 + 1G > T were detected in the BBS2 gene in family A, and k …
Two novel MKKs (MKK4 and MKK7) from Ctenopharyngodon idella are involved in the intestinal immune response to bacterial muramyl dipeptide challenge.
Qu F, Tang J, Peng X, Zhang H, Shi L, Huang Z, Xu W, Chen H, Shen Y, Yan J, Li J, Lu S, Liu Z. Qu F, et al. Dev Comp Immunol. 2019 Apr;93:103-114. doi: 10.1016/j.dci.2019.01.001. Epub 2019 Jan 8. Dev Comp Immunol. 2019. PMID: 30633955
Mitogen-activated protein kinase kinases (MKKs) are a class of evolutionarily conserved signalling intermediates of the MAPK signalling pathway that can be activated by a diverse range of pathogenic stimuli and are crucial for the regulation of host immune defence. In this …
Mitogen-activated protein kinase kinases (MKKs) are a class of evolutionarily conserved signalling intermediates of the MAPK signalli …
241 results