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Items: 7

1.

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.

Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, Kłosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, Kmieć T, Jakubowski R, Gasperowicz P, Walczak A, Śladowski D, Jankowska-Steifer E, Korniszewski L, Kosińska J, Obersztyn E, Nowak W, Śledziński T, Dziembowski A, Płoski R.

J Med Genet. 2018 Jun;55(6):408-414. doi: 10.1136/jmedgenet-2017-105172. Epub 2018 Mar 1.

PMID:
29496980
2.

The non-canonical poly(A) polymerase FAM46C acts as an onco-suppressor in multiple myeloma.

Mroczek S, Chlebowska J, Kuliński TM, Gewartowska O, Gruchota J, Cysewski D, Liudkovska V, Borsuk E, Nowis D, Dziembowski A.

Nat Commun. 2017 Sep 20;8(1):619. doi: 10.1038/s41467-017-00578-5.

3.

A meiosis-specific Spt5 homolog involved in non-coding transcription.

Gruchota J, Denby Wilkes C, Arnaiz O, Sperling L, Nowak JK.

Nucleic Acids Res. 2017 May 5;45(8):4722-4732. doi: 10.1093/nar/gkw1318.

4.

TFIIS-Dependent Non-coding Transcription Regulates Developmental Genome Rearrangements.

Maliszewska-Olejniczak K, Gruchota J, Gromadka R, Denby Wilkes C, Arnaiz O, Mathy N, Duharcourt S, Bétermier M, Nowak JK.

PLoS Genet. 2015 Jul 15;11(7):e1005383. doi: 10.1371/journal.pgen.1005383. eCollection 2015 Jul.

5.

Multiple myeloma-associated hDIS3 mutations cause perturbations in cellular RNA metabolism and suggest hDIS3 PIN domain as a potential drug target.

Tomecki R, Drazkowska K, Kucinski I, Stodus K, Szczesny RJ, Gruchota J, Owczarek EP, Kalisiak K, Dziembowski A.

Nucleic Acids Res. 2014 Jan;42(2):1270-90. doi: 10.1093/nar/gkt930. Epub 2013 Oct 22.

6.

Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.

Bielinska B, Gaj P, Kluska A, Nowakowska D, Balabas A, Dabrowska M, Niwinska A, Gruchota J, Zub R, Skasko E, Steffen J, Ostrowski J, Siedlecki JA.

Fam Cancer. 2013 Dec;12(4):691-8. doi: 10.1007/s10689-013-9647-6.

PMID:
23657760
7.

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.

Gruchota J, Pronicka E, Korniszewski L, Stolarski B, Pollak A, Rogaszewska M, Płoski R.

Mol Genet Metab. 2006 Apr;87(4):376-8. Epub 2006 Jan 10.

PMID:
16406649

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