BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

317 related articles for article (PubMed ID: 33232675)

  • 1. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
    Barish S; Barakat TS; Michel BC; Mashtalir N; Phillips JB; Valencia AM; Ugur B; Wegner J; Scott TM; Bostwick B; ; Murdock DR; Dai H; Perenthaler E; Nikoncuk A; van Slegtenhorst M; Brooks AS; Keren B; Nava C; Mignot C; Douglas J; Rodan L; Nowak C; Ellard S; Stals K; Lynch SA; Faoucher M; Lesca G; Edery P; Engleman KL; Zhou D; Thiffault I; Herriges J; Gass J; Louie RJ; Stolerman E; Washington C; Vetrini F; Otsubo A; Pratt VM; Conboy E; Treat K; Shannon N; Camacho J; Wakeling E; Yuan B; Chen CA; Rosenfeld JA; Westerfield M; Wangler M; Yamamoto S; Kadoch C; Scott DA; Bellen HJ
    Am J Hum Genet; 2020 Dec; 107(6):1096-1112. PubMed ID: 33232675
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Loss of Bicra impairs Drosophila learning and choice abilities.
    Sun Y; Li Z; Li W; Xue L
    Neurosci Lett; 2022 Jan; 769():136432. PubMed ID: 34974109
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
    Nixon KCJ; Rousseau J; Stone MH; Sarikahya M; Ehresmann S; Mizuno S; Matsumoto N; Miyake N; ; Baralle D; McKee S; Izumi K; Ritter AL; Heide S; Héron D; Depienne C; Titheradge H; Kramer JM; Campeau PM
    Am J Hum Genet; 2019 Apr; 104(4):596-610. PubMed ID: 30879640
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes.
    Alpsoy A; Dykhuizen EC
    J Biol Chem; 2018 Mar; 293(11):3892-3903. PubMed ID: 29374058
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
    Latypova X; Vincent M; Mollé A; Adebambo OA; Fourgeux C; Khan TN; Caro A; Rosello M; Orellana C; Niyazov D; Lederer D; Deprez M; Capri Y; Kannu P; Tabet AC; Levy J; Aten E; den Hollander N; Splitt M; Walia J; Immken LL; Stankiewicz P; McWalter K; Suchy S; Louie RJ; Bell S; Stevenson RE; Rousseau J; Willem C; Retiere C; Yang XJ; Campeau PM; Martinez F; Rosenfeld JA; Le Caignec C; Küry S; Mercier S; Moradkhani K; Conrad S; Besnard T; Cogné B; Katsanis N; Bézieau S; Poschmann J; Davis EE; Isidor B
    Am J Hum Genet; 2021 May; 108(5):929-941. PubMed ID: 33811806
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders.
    MacPherson RA; Shankar V; Anholt RRH; Mackay TFC
    Genetics; 2023 Aug; 224(4):. PubMed ID: 37036413
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12.
    Asadauskaitė G; Morkūnienė A; Utkus A; Burnytė B
    Brain Dev; 2023 Mar; 45(3):185-190. PubMed ID: 36437209
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
    Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; ; Campeau PM
    Am J Hum Genet; 2019 Jan; 104(1):164-178. PubMed ID: 30580808
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Differential requirements for different subfamilies of the mammalian SWI/SNF chromatin remodeling enzymes in myoblast cell cycle progression and expression of the Pax7 regulator.
    Padilla-Benavides T; Olea-Flores M; Nshanji Y; Maung MT; Syed SA; Imbalzano AN
    Biochim Biophys Acta Gene Regul Mech; 2022 Feb; 1865(2):194801. PubMed ID: 35217218
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
    Lee Y; Choi Y; Seo GH; Kim GH; Keum C; Kim YM; Do HS; Choi J; Choi IH; Yoo HW; Lee BH
    BMC Med Genomics; 2021 Oct; 14(1):254. PubMed ID: 34706719
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Individual components of the SWI/SNF chromatin remodelling complex have distinct roles in memory neurons of the
    Chubak MC; Nixon KCJ; Stone MH; Raun N; Rice SL; Sarikahya M; Jones SG; Lyons TA; Jakub TE; Mainland RLM; Knip MJ; Edwards TN; Kramer JM
    Dis Model Mech; 2019 Mar; 12(3):. PubMed ID: 30923190
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
    Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Differential Contributions of mSWI/SNF Chromatin Remodeler Sub-Families to Myoblast Differentiation.
    Padilla-Benavides T; Olea-Flores M; Sharma T; Syed SA; Witwicka H; Zuñiga-Eulogio MD; Zhang K; Navarro-Tito N; Imbalzano AN
    Int J Mol Sci; 2023 Jul; 24(14):. PubMed ID: 37511016
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
    Stankiewicz P; Khan TN; Szafranski P; Slattery L; Streff H; Vetrini F; Bernstein JA; Brown CW; Rosenfeld JA; Rednam S; Scollon S; Bergstrom KL; Parsons DW; Plon SE; Vieira MW; Quaio CRDC; Baratela WAR; Acosta Guio JC; Armstrong R; Mehta SG; Rump P; Pfundt R; Lewandowski R; Fernandes EM; Shinde DN; Tang S; Hoyer J; Zweier C; Reis A; Bacino CA; Xiao R; Breman AM; Smith JL; ; Katsanis N; Bostwick B; Popp B; Davis EE; Yang Y
    Am J Hum Genet; 2017 Oct; 101(4):503-515. PubMed ID: 28942966
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Modular Organization and Assembly of SWI/SNF Family Chromatin Remodeling Complexes.
    Mashtalir N; D'Avino AR; Michel BC; Luo J; Pan J; Otto JE; Zullow HJ; McKenzie ZM; Kubiak RL; St Pierre R; Valencia AM; Poynter SJ; Cassel SH; Ranish JA; Kadoch C
    Cell; 2018 Nov; 175(5):1272-1288.e20. PubMed ID: 30343899
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A non-canonical SWI/SNF complex is a synthetic lethal target in cancers driven by BAF complex perturbation.
    Michel BC; D'Avino AR; Cassel SH; Mashtalir N; McKenzie ZM; McBride MJ; Valencia AM; Zhou Q; Bocker M; Soares LMM; Pan J; Remillard DI; Lareau CA; Zullow HJ; Fortoul N; Gray NS; Bradner JE; Chan HM; Kadoch C
    Nat Cell Biol; 2018 Dec; 20(12):1410-1420. PubMed ID: 30397315
    [TBL] [Abstract][Full Text] [Related]  

  • 17. BAFfling pathologies: Alterations of BAF complexes in cancer.
    Arnaud O; Le Loarer F; Tirode F
    Cancer Lett; 2018 Apr; 419():266-279. PubMed ID: 29374542
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability.
    Khazanchi R; Ronspies CA; Smith SC; Starr LJ
    Am J Med Genet A; 2019 May; 179(5):808-812. PubMed ID: 30838730
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
    Goodman LD; Cope H; Nil Z; Ravenscroft TA; Charng WL; Lu S; Tien AC; Pfundt R; Koolen DA; Haaxma CA; Veenstra-Knol HE; Wassink-Ruiter JSK; Wevers MR; Jones M; Walsh LE; Klee VH; Theunis M; Legius E; Steel D; Barwick KES; Kurian MA; Mohammad SS; Dale RC; Terhal PA; van Binsbergen E; Kirmse B; Robinette B; Cogné B; Isidor B; Grebe TA; Kulch P; Hainline BE; Sapp K; Morava E; Klee EW; Macke EL; Trapane P; Spencer C; Si Y; Begtrup A; Moulton MJ; Dutta D; Kanca O; ; Wangler MF; Yamamoto S; Bellen HJ; Tan QK
    Am J Hum Genet; 2021 Sep; 108(9):1669-1691. PubMed ID: 34314705
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
    Chen CA; Lattier J; Zhu W; Rosenfeld J; Wang L; Scott TM; Du H; Patel V; Dang A; Magoulas P; Streff H; Sebastian J; Svihovec S; Curry K; Delgado MR; Hanchard NA; Lalani S; Marom R; Madan-Khetarpal S; Saenz M; Dai H; Meng L; Xia F; Bi W; Liu P; Posey JE; Scott DA; Lupski JR; Eng CM; Xiao R; Yuan B
    Genet Med; 2022 Feb; 24(2):364-373. PubMed ID: 34906496
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.