BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

122 related articles for article (PubMed ID: 33650182)

  • 1. Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
    Yamada M; Ono M; Ishii T; Suzuki H; Uehara T; Takenouchi T; Kosaki K
    Am J Med Genet A; 2021 Jun; 185(6):1836-1840. PubMed ID: 33650182
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
    Verberne EA; Faries S; Mannens MMAM; Postma AV; van Haelst MM
    Am J Med Genet A; 2020 Aug; 182(8):1952-1956. PubMed ID: 32462814
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Early developmental arrest and impaired gastrointestinal homeostasis in U12-dependent splicing-defective
    Doggett K; Williams BB; Markmiller S; Geng FS; Coates J; Mieruszynski S; Ernst M; Thomas T; Heath JK
    RNA; 2018 Dec; 24(12):1856-1870. PubMed ID: 30254136
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Minor class splicing shapes the zebrafish transcriptome during development.
    Markmiller S; Cloonan N; Lardelli RM; Doggett K; Keightley MC; Boglev Y; Trotter AJ; Ng AY; Wilkins SJ; Verkade H; Ober EA; Field HA; Grimmond SM; Lieschke GJ; Stainier DY; Heath JK
    Proc Natl Acad Sci U S A; 2014 Feb; 111(8):3062-7. PubMed ID: 24516132
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.
    Norppa AJ; Kauppala TM; Heikkinen HA; Verma B; Iwaï H; Frilander MJ
    RNA; 2018 Mar; 24(3):396-409. PubMed ID: 29255062
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
    Argente J; Flores R; Gutiérrez-Arumí A; Verma B; Martos-Moreno GÁ; Cuscó I; Oghabian A; Chowen JA; Frilander MJ; Pérez-Jurado LA
    EMBO Mol Med; 2014 Mar; 6(3):299-306. PubMed ID: 24480542
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.
    Yavas Abali Z; Gokpinar Ili E; Bas F; Ulak Ozkan M; Gulec Ç; Toksoy G; Ozturk AP; Karakilic Ozturan E; Aslanger A; Caliskan M; Yesil G; Poyrazoglu S; Darendeliler F; Oya Uyguner Z
    Horm Res Paediatr; 2024; 97(2):157-164. PubMed ID: 37463572
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
    Akin L; Rizzoti K; Gregory LC; Corredor B; Le Quesne Stabej P; Williams H; Buonocore F; Mouilleron S; Capra V; McGlacken-Byrne SM; Martos-Moreno GÁ; Azmanov DN; Kendirci M; Kurtoglu S; Suntharalingham JP; Galichet C; Gustincich S; Tasic V; Achermann JC; Accogli A; Filipovska A; Tuilpakov A; Maghnie M; Gucev Z; Gonen ZB; Pérez-Jurado LA; Robinson I; Lovell-Badge R; Argente J; Dattani MT
    Genet Med; 2022 Feb; 24(2):384-397. PubMed ID: 34906446
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Arabidopsis U11/U12-65K is an indispensible component of minor spliceosome and plays a crucial role in U12 intron splicing and plant development.
    Jung HJ; Kang H
    Plant J; 2014 Jun; 78(5):799-810. PubMed ID: 24606192
    [TBL] [Abstract][Full Text] [Related]  

  • 10. New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
    Cologne A; Benoit-Pilven C; Besson A; Putoux A; Campan-Fournier A; Bober MB; De Die-Smulders CEM; Paulussen ADC; Pinson L; Toutain A; Roifman CM; Leutenegger AL; Mazoyer S; Edery P; Lacroix V
    RNA; 2019 Sep; 25(9):1130-1149. PubMed ID: 31175170
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
    Di Donato N; Neuhann T; Kahlert AK; Klink B; Hackmann K; Neuhann I; Novotna B; Schallner J; Krause C; Glass IA; Parnell SE; Benet-Pages A; Nissen AM; Berger W; Altmüller J; Thiele H; Weber BH; Schrock E; Dobyns WB; Bier A; Rump A
    J Med Genet; 2016 Jun; 53(6):419-25. PubMed ID: 26843489
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
    Lee YR; Khan K; Armfield-Uhas K; Srikanth S; Thompson NA; Pardo M; Yu L; Norris JW; Peng Y; Gripp KW; Aleck KA; Li C; Spence E; Choi TI; Kwon SJ; Park HM; Yu D; Heo WD; Mooney MR; Baig SM; Wentzensen IM; Telegrafi A; McWalter K; Moreland T; Roadhouse C; Ramsey K; Lyons MJ; Skinner C; Alexov E; Katsanis N; Stevenson RE; Choudhary JS; Adams DJ; Kim CH; Davis EE; Schwartz CE
    Nat Commun; 2020 Jul; 11(1):3698. PubMed ID: 32703943
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Major conformational change in the complex SF3b upon integration into the spliceosomal U11/U12 di-snRNP as revealed by electron cryomicroscopy.
    Golas MM; Sander B; Will CL; Lührmann R; Stark H
    Mol Cell; 2005 Mar; 17(6):869-83. PubMed ID: 15780942
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
    Bezen D; Kutlu O; Mouilleron S; Rizzoti K; Dattani M; Guran T; Yeşil G
    Am J Med Genet A; 2022 Sep; 188(9):2701-2706. PubMed ID: 35792517
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
    El Chehadeh S; Kerstjens-Frederikse WS; Thevenon J; Kuentz P; Bruel AL; Thauvin-Robinet C; Bensignor C; Dollfus H; Laugel V; Rivière JB; Duffourd Y; Bonnet C; Robert MP; Isaiko R; Straub M; Creuzot-Garcher C; Calvas P; Chassaing N; Loeys B; Reyniers E; Vandeweyer G; Kooy F; Hančárová M; Havlovicová M; Prchalová D; Sedláček Z; Gilissen C; Pfundt R; Wassink-Ruiter JSK; Faivre L
    Eur J Hum Genet; 2016 Jan; 25(1):43-51. PubMed ID: 27804958
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Evolutionary conservation of minor U12-type spliceosome between plants and humans.
    Lorkovic ZJ; Lehner R; Forstner C; Barta A
    RNA; 2005 Jul; 11(7):1095-107. PubMed ID: 15987817
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Minor Intron Splicing from Basic Science to Disease.
    El Marabti E; Malek J; Younis I
    Int J Mol Sci; 2021 Jun; 22(11):. PubMed ID: 34199764
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.
    Rangel-Sosa MM; Figuera-Villanueva LE; González-Ramos IA; Pérez-Páramo YX; Martínez-Jacobo LA; Arnaud-López L; Nastasi-Catanese JA; Rivas-Estilla AM; Galán-Huerta KA; Rojas-Martínez A; Ortiz-López R; Córdova-Fletes C
    Clin Genet; 2018 Jun; 93(6):1229-1233. PubMed ID: 29437235
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
    Ramos J; Proven M; Halvardson J; Hagelskamp F; Kuchinskaya E; Phelan B; Bell R; Kellner SM; Feuk L; Thuresson AC; Fu D
    RNA; 2020 Nov; 26(11):1654-1666. PubMed ID: 32763916
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
    Marom R; Jain M; Burrage LC; Song IW; Graham BH; Brown CW; Stevens SJC; Stegmann APA; Gunter AT; Kaplan JD; Gavrilova RH; Shinawi M; Rosenfeld JA; Bae Y; Tran AA; Chen Y; Lu JT; Gibbs RA; Eng C; Yang Y; Rousseau J; de Vries BBA; Campeau PM; Lee B
    Hum Mutat; 2017 Oct; 38(10):1365-1371. PubMed ID: 28649782
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.