Search Results - "Weekes DB"

TRIM21 restricts influenza A virus replication by ubiquitination-dependent degradation of M1.

Authors: Lin, Lulu Wang, Xingbo Chen, Zhen et al.

Source: PLoS Pathogens. 6/21/2023, Vol. 18 Issue 6, p1-27. 27p.

Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion.

Authors: Eiset, Saga Elise Funding, Mikkel Racher, Hilary et al.

Source: Clinical Case Reports. Mar2022, Vol. 10 Issue 3, p1-6. 6p.

An overview of RB1 transcript alterations detected during retinoblastoma genetic screening.

Authors: Price, Elizabeth A. Sagoo, Mandeep S. Reddy, M. Ashwin et al.

Source: Ophthalmic Genetics. Jun2024, Vol. 45 Issue 3, p235-245. 11p.

PCLasso: a protein complex-based, group lasso-Cox model for accurate prognosis and risk protein complex discovery.

Authors: Wang, Wei Liu, Wei

Source: Briefings in Bioinformatics. Nov2021, Vol. 22 Issue 6, p1-14. 14p.

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

Authors: Sharma, Neeraj Evans, Taylor A. Pellicore, Matthew J. et al.

Source: PLoS Genetics. 11/16/2018, Vol. 14 Issue 11, p1-31. 31p.

Ret finger protein inhibits muscle differentiation by modulating serum response factor and enhancer of polycomb1.

Authors: Kee, H J Kim, J-R Joung, H et al.

Source: Cell Death & Differentiation. Jan2012, Vol. 19 Issue 1, p121-131. 11p. 2 Diagrams, 6 Graphs.

Pathogenicity of the MAGE family.

Authors: Li, Sanyan Shi, Xiang Li, Jingping et al.

Source: Oncology Letters. Dec2021, Vol. 22 Issue 6, pN.PAG-N.PAG. 1p.

Genetic Diseases of the Eye

Authors: Elias I. Traboulsi, MD

Resource Type: eBook.

Subjects: Eye--Diseases--Genetic aspects, Eye--Abnormalities

Categories: HEALTH & FITNESS / Vision, MEDICAL / Ophthalmology

Tripartite motif-containing 27 negatively regulates NF-κB activation in bone remodeling.

Authors: Kim K Kim JH Kim I et al.

Source: Molecular medicine (Cambridge, Mass.) [Mol Med] 2025 Apr 18; Vol. 31 (1), pp. 141. Date of Electronic Publication: 2025 Apr 18.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Electronic Cited Medium: Internet ISSN: 1528-3658 (Electronic) Linking ISSN: 10761551 NLM ISO Abbreviation: Mol Med Subsets: MEDLINE

Comment on ‘Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease’.

Authors: Inácio, Ângela Silva, Ana Luísa Morgado, Ana et al.

Source: European Journal of Human Genetics. May2007, Vol. 15 Issue 5, p533-534. 2p.

Genetics in ophthalmology: molecular blueprints of retinoblastoma.

Authors: Marković L Bukovac A Varošanec AM et al.

Source: Human genomics [Hum Genomics] 2023 Sep 01; Vol. 17 (1), pp. 82. Date of Electronic Publication: 2023 Sep 01.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma.

Authors: Salviat F Gauthier-Villars M Carton M et al.

Source: JAMA ophthalmology [JAMA Ophthalmol] 2020 Aug 01; Vol. 138 (8), pp. 843-850.

Publication Type: Comparative Study; Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

Authors: Smith T Ho G Christodoulou J et al.

Source: Human mutation [Hum Mutat] 2016 May; Vol. 37 (5), pp. 488-94. Date of Electronic Publication: 2016 Mar 14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

TRIM39 negatively regulates the NFκB-mediated signaling pathway through stabilization of Cactin.

Authors: Suzuki M Watanabe M Nakamaru Y et al.

Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2016 Mar; Vol. 73 (5), pp. 1085-101. Date of Electronic Publication: 2015 Sep 12.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

The melanoma-associated antigen 1 (MAGEA1) protein stimulates the E3 ubiquitin-ligase activity of TRIM31 within a TRIM31-MAGEA1-NSE4 complex.

Authors: Kozakova L Vondrova L Stejskal K et al.

Source: Cell cycle (Georgetown, Tex.) [Cell Cycle] 2015; Vol. 14 (6), pp. 920-30.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101137841 Publication Model: Print Cited Medium: Internet ISSN: 1551-4005 (Electronic) Linking ISSN: 15514005 NLM ISO Abbreviation: Cell Cycle Subsets: MEDLINE

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors: Cooper DN Krawczak M Polychronakos C et al.

Source: Human genetics [Hum Genet] 2013 Oct; Vol. 132 (10), pp. 1077-130. Date of Electronic Publication: 2013 Jul 03.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Role of the tripartite motif protein 27 in cancer development.

Authors: Zoumpoulidou G Broceño C Li H et al.

Source: Journal of the National Cancer Institute [J Natl Cancer Inst] 2012 Jun 20; Vol. 104 (12), pp. 941-52. Date of Electronic Publication: 2012 May 03.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2105 (Electronic) Linking ISSN: 00278874 NLM ISO Abbreviation: J Natl Cancer Inst Subsets: MEDLINE

Alternative splicing determines mRNA translation initiation and function of human K(2P)10.1 K+ channels.

Authors: Staudacher K Baldea I Kisselbach J et al.

Source: The Journal of physiology [J Physiol] 2011 Aug 01; Vol. 589 (Pt 15), pp. 3709-20. Date of Electronic Publication: 2011 Jun 13.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cambridge Univ. Press Country of Publication: England NLM ID: 0266262 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7793 (Electronic) Linking ISSN: 00223751 NLM ISO Abbreviation: J Physiol Subsets: MEDLINE