PubMed for id: 54903

Year	Number of Results
1993	3
1995	1
2002	1
2003	3
2004	2
2005	1
2006	2
2007	5
2008	3
2009	3
2010	1
2011	2
2012	1
2014	2
2015	5
2016	5
2017	3
2018	1
2020	2
2021	1
2022	2
2023	2
2024	0

1

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

Irfanullah; Khan S, Ullah I, Nasir A, Meijer CA, Laurense-Bik M, den Dunnen JT, Ruivenkamp CA, Hoffer MJ, Santen GW, Ahmad W. Irfanullah, et al. Am J Med Genet A. 2016 Dec;170(12):3289-3293. doi: 10.1002/ajmg.a.37934. Epub 2016 Aug 29. Am J Med Genet A. 2016. PMID: 27570071

2

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Frank V, Ortiz Brüchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C. Frank V, et al. Hum Mutat. 2007 Jun;28(6):638-9. doi: 10.1002/humu.9496. Hum Mutat. 2007. PMID: 17437276

3

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

Paavola P, Salonen R, Weissenbach J, Peltonen L. Paavola P, et al. Nat Genet. 1995 Oct;11(2):213-5. doi: 10.1038/ng1095-213. Nat Genet. 1995. PMID: 7550354

4

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D. Slaats GG, et al. J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21. J Med Genet. 2016. PMID: 26490104 Free PMC article.

5

A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder H. Auber B, et al. Clin Genet. 2007 Nov;72(5):454-9. doi: 10.1111/j.1399-0004.2007.00880.x. Clin Genet. 2007. PMID: 17935508

6

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestilä M. Kyttälä M, et al. Nat Genet. 2006 Feb;38(2):155-7. doi: 10.1038/ng1714. Epub 2006 Jan 15. Nat Genet. 2006. PMID: 16415886

7

Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins.

Okazaki M, Kobayashi T, Chiba S, Takei R, Liang L, Nakayama K, Katoh Y. Okazaki M, et al. Mol Biol Cell. 2020 Sep 15;31(20):2259-2268. doi: 10.1091/mbc.E20-03-0208. Epub 2020 Jul 29. Mol Biol Cell. 2020. PMID: 32726168 Free PMC article.

8

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM. Romani M, et al. Orphanet J Rare Dis. 2014 May 5;9:72. doi: 10.1186/1750-1172-9-72. Orphanet J Rare Dis. 2014. PMID: 24886560 Free PMC article.

9

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH 2nd, Torres VE, Breuning MH, Harris PC. Consugar MB, et al. Hum Genet. 2007 Jun;121(5):591-9. doi: 10.1007/s00439-007-0341-3. Epub 2007 Mar 22. Hum Genet. 2007. PMID: 17377820

10

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie). Khaddour R, et al. Hum Mutat. 2007 May;28(5):523-4. doi: 10.1002/humu.9489. Hum Mutat. 2007. PMID: 17397051

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