These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 30905398)

  • 1. The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
    Marbach F; Rustad CF; Riess A; Đukić D; Hsieh TC; Jobani I; Prescott T; Bevot A; Erger F; Houge G; Redfors M; Altmueller J; Stokowy T; Gilissen C; Kubisch C; Scarano E; Mazzanti L; Fiskerstrand T; Krawitz PM; Lessel D; Netzer C
    Am J Hum Genet; 2019 Apr; 104(4):749-757. PubMed ID: 30905398
    [TBL] [Abstract][Full Text] [Related]  

  • 2. LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.
    Matter A; Kaufman C; Zürcher N; Lenggenhager D; Grehten P; Bartholdi D; Horka L; Häberle J; Makris G
    Aging Cell; 2024 May; ():e14189. PubMed ID: 38757373
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress.
    Paradisi M; McClintock D; Boguslavsky RL; Pedicelli C; Worman HJ; Djabali K
    BMC Cell Biol; 2005 Jun; 6():27. PubMed ID: 15982412
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.
    Lu Z; Zhang W; Mao X; Li D; Chen X; Liu L; Lin Y
    Clin Genet; 2024 Feb; 105(2):209-213. PubMed ID: 37867468
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).
    Elouej S; Beleza-Meireles A; Caswell R; Colclough K; Ellard S; Desvignes JP; Béroud C; Lévy N; Mohammed S; De Sandre-Giovannoli A
    Metabolism; 2017 Jun; 71():213-225. PubMed ID: 28521875
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation.
    Yang SH; Bergo MO; Toth JI; Qiao X; Hu Y; Sandoval S; Meta M; Bendale P; Gelb MH; Young SG; Fong LG
    Proc Natl Acad Sci U S A; 2005 Jul; 102(29):10291-6. PubMed ID: 16014412
    [TBL] [Abstract][Full Text] [Related]  

  • 7. N6-isopentenyladenosine improves nuclear shape in fibroblasts from humans with progeroid syndromes by inhibiting the farnesylation of prelamin A.
    Bifulco M; D'Alessandro A; Paladino S; Malfitano AM; Notarnicola M; Caruso MG; Laezza C
    FEBS J; 2013 Dec; 280(23):6223-32. PubMed ID: 24112551
    [TBL] [Abstract][Full Text] [Related]  

  • 8. SATB2-LEMD2 interaction links nuclear shape plasticity to regulation of cognition-related genes.
    Feurle P; Abentung A; Cera I; Wahl N; Ablinger C; Bucher M; Stefan E; Sprenger S; Teis D; Fischer A; Laighneach A; Whitton L; Morris DW; Apostolova G; Dechant G
    EMBO J; 2021 Feb; 40(3):e103701. PubMed ID: 33319920
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Loss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy.
    Caravia XM; Ramirez-Martinez A; Gan P; Wang F; McAnally JR; Xu L; Bassel-Duby R; Liu N; Olson EN
    J Clin Invest; 2022 Nov; 132(22):. PubMed ID: 36377660
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
    Lessel D; Ozel AB; Campbell SE; Saadi A; Arlt MF; McSweeney KM; Plaiasu V; Szakszon K; Szőllős A; Rusu C; Rojas AJ; Lopez-Valdez J; Thiele H; Nürnberg P; Nickerson DA; Bamshad MJ; Li JZ; Kubisch C; Glover TW; Gordon LB
    Hum Genet; 2018 Dec; 137(11-12):921-939. PubMed ID: 30450527
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Imbalanced nucleocytoskeletal connections create common polarity defects in progeria and physiological aging.
    Chang W; Wang Y; Luxton GWG; Östlund C; Worman HJ; Gundersen GG
    Proc Natl Acad Sci U S A; 2019 Feb; 116(9):3578-3583. PubMed ID: 30808750
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
    Cabanillas R; Cadiñanos J; Villameytide JA; Pérez M; Longo J; Richard JM; Alvarez R; Durán NS; Illán R; González DJ; López-Otín C
    Am J Med Genet A; 2011 Nov; 155A(11):2617-25. PubMed ID: 21932319
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mechanistic Insights of the LEMD2 p.L13R Mutation and Its Role in Cardiomyopathy.
    Chen R; Buchmann S; Kroth A; Arias-Loza AP; Kohlhaas M; Wagner N; Grüner G; Nickel A; Cirnu A; Williams T; Maack C; Ergün S; Frantz S; Gerull B
    Circ Res; 2023 Jan; 132(2):e43-e58. PubMed ID: 36656972
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
    Moulson CL; Fong LG; Gardner JM; Farber EA; Go G; Passariello A; Grange DK; Young SG; Miner JH
    Hum Mutat; 2007 Sep; 28(9):882-9. PubMed ID: 17469202
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
    Kandert S; Lüke Y; Kleinhenz T; Neumann S; Lu W; Jaeger VM; Munck M; Wehnert M; Müller CR; Zhou Z; Noegel AA; Dabauvalle MC; Karakesisoglou I
    Hum Mol Genet; 2007 Dec; 16(23):2944-59. PubMed ID: 17881656
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
    Verstraeten VL; Broers JL; van Steensel MA; Zinn-Justin S; Ramaekers FC; Steijlen PM; Kamps M; Kuijpers HJ; Merckx D; Smeets HJ; Hennekam RC; Marcelis CL; van den Wijngaard A
    Hum Mol Genet; 2006 Aug; 15(16):2509-22. PubMed ID: 16825282
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome.
    Mallampalli MP; Huyer G; Bendale P; Gelb MH; Michaelis S
    Proc Natl Acad Sci U S A; 2005 Oct; 102(40):14416-21. PubMed ID: 16186497
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
    Hussain I; Patni N; Ueda M; Sorkina E; Valerio CM; Cochran E; Brown RJ; Peeden J; Tikhonovich Y; Tiulpakov A; Stender SRS; Klouda E; Tayeh MK; Innis JW; Meyer A; Lal P; Godoy-Matos AF; Teles MG; Adams-Huet B; Rader DJ; Hegele RA; Oral EA; Garg A
    J Clin Endocrinol Metab; 2018 Mar; 103(3):1005-1014. PubMed ID: 29267953
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hutchinson-Gilford progeria syndrome through the lens of transcription.
    Prokocimer M; Barkan R; Gruenbaum Y
    Aging Cell; 2013 Aug; 12(4):533-43. PubMed ID: 23496208
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review.
    Arancio W; Pizzolanti G; Genovese SI; Pitrone M; Giordano C
    Gerontology; 2014; 60(3):197-203. PubMed ID: 24603298
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.