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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 30755616)

  • 1. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
    Siekierska A; Stamberger H; Deconinck T; Oprescu SN; Partoens M; Zhang Y; Sourbron J; Adriaenssens E; Mullen P; Wiencek P; Hardies K; Lee JS; Giong HK; Distelmaier F; Elpeleg O; Helbig KL; Hersh J; Isikay S; Jordan E; Karaca E; Kecskes A; Lupski JR; Kovacs-Nagy R; May P; Narayanan V; Pendziwiat M; Ramsey K; Rangasamy S; Shinde DN; Spiegel R; Timmerman V; von Spiczak S; Helbig I; ; ; Weckhuysen S; Francklyn C; Antonellis A; de Witte P; De Jonghe P
    Nat Commun; 2019 Feb; 10(1):708. PubMed ID: 30755616
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.
    Friedman J; Smith DE; Issa MY; Stanley V; Wang R; Mendes MI; Wright MS; Wigby K; Hildreth A; Crawford JR; Koehler AE; Chowdhury S; Nahas S; Zhai L; Xu Z; Lo WS; James KN; Musaev D; Accogli A; Guerrero K; Tran LT; Omar TEI; Ben-Omran T; Dimmock D; Kingsmore SF; Salomons GS; Zaki MS; Bernard G; Gleeson JG
    Nat Commun; 2019 Feb; 10(1):707. PubMed ID: 30755602
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
    Stephen J; Nampoothiri S; Banerjee A; Tolman NJ; Penninger JM; Elling U; Agu CA; Burke JD; Devadathan K; Kannan R; Huang Y; Steinbach PJ; Martinis SA; Gahl WA; Malicdan MCV
    Hum Genet; 2018 Apr; 137(4):293-303. PubMed ID: 29691655
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biallelic variants in
    Okur V; Ganapathi M; Wilson A; Chung WK
    Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 30275004
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
    Kuo ME; Theil AF; Kievit A; Malicdan MC; Introne WJ; Christian T; Verheijen FW; Smith DEC; Mendes MI; Hussaarts-Odijk L; van der Meijden E; van Slegtenhorst M; Wilke M; Vermeulen W; Raams A; Groden C; Shimada S; Meyer-Schuman R; Hou YM; Gahl WA; Antonellis A; Salomons GS; Mancini GMS
    Am J Hum Genet; 2019 Mar; 104(3):520-529. PubMed ID: 30824121
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
    Manole A; Efthymiou S; O'Connor E; Mendes MI; Jennings M; Maroofian R; Davagnanam I; Mankad K; Lopez MR; Salpietro V; Harripaul R; Badalato L; Walia J; Francklyn CS; Athanasiou-Fragkouli A; Sullivan R; Desai S; Baranano K; Zafar F; Rana N; Ilyas M; Horga A; Kara M; Mattioli F; Goldenberg A; Griffin H; Piton A; Henderson LB; Kara B; Aslanger AD; Raaphorst J; Pfundt R; Portier R; Shinawi M; Kirby A; Christensen KM; Wang L; Rosti RO; Paracha SA; Sarwar MT; Jenkins D; ; Ahmed J; Santoni FA; Ranza E; Iwaszkiewicz J; Cytrynbaum C; Weksberg R; Wentzensen IM; Guillen Sacoto MJ; Si Y; Telegrafi A; Andrews MV; Baldridge D; Gabriel H; Mohr J; Oehl-Jaschkowitz B; Debard S; Senger B; Fischer F; van Ravenwaaij C; Fock AJM; Stevens SJC; Bähler J; Nasar A; Mantovani JF; Manzur A; Sarkozy A; Smith DEC; Salomons GS; Ahmed ZM; Riazuddin S; Riazuddin S; Usmani MA; Seibt A; Ansar M; Antonarakis SE; Vincent JB; Ayub M; Grimmel M; Jelsig AM; Hjortshøj TD; Karstensen HG; Hummel M; Haack TB; Jamshidi Y; Distelmaier F; Horvath R; Gleeson JG; Becker H; Mandel JL; Koolen DA; Houlden H
    Am J Hum Genet; 2020 Aug; 107(2):311-324. PubMed ID: 32738225
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biallelic variants in
    Maroofian R; Sedmík J; Mazaheri N; Scala M; Zaki MS; Keegan LP; Azizimalamiri R; Issa M; Shariati G; Sedaghat A; Beetz C; Bauer P; Galehdari H; O'Connell MA; Houlden H
    J Med Genet; 2021 Jul; 58(7):495-504. PubMed ID: 32719099
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.
    McLachlan F; Sires AM; Abbott CM
    Hum Mutat; 2019 Feb; 40(2):131-141. PubMed ID: 30370994
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
    Marafi D; Mitani T; Isikay S; Hertecant J; Almannai M; Manickam K; Abou Jamra R; El-Hattab AW; Rajah J; Fatih JM; Du H; Karaca E; Bayram Y; Punetha J; Rosenfeld JA; Jhangiani SN; Boerwinkle E; Akdemir ZC; Erdin S; Hunter JV; Gibbs RA; Pehlivan D; Posey JE; Lupski JR
    Ann Clin Transl Neurol; 2020 May; 7(5):610-627. PubMed ID: 32286009
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
    Zhang X; Ling J; Barcia G; Jing L; Wu J; Barry BJ; Mochida GH; Hill RS; Weimer JM; Stein Q; Poduri A; Partlow JN; Ville D; Dulac O; Yu TW; Lam AT; Servattalab S; Rodriguez J; Boddaert N; Munnich A; Colleaux L; Zon LI; Söll D; Walsh CA; Nabbout R
    Am J Hum Genet; 2014 Apr; 94(4):547-58. PubMed ID: 24656866
    [TBL] [Abstract][Full Text] [Related]  

  • 11. WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
    Bögershausen N; Krawczyk HE; Jamra RA; Lin SJ; Yigit G; Hüning I; Polo AM; Vona B; Huang K; Schmidt J; Altmüller J; Luppe J; Platzer K; Dörgeloh BB; Busche A; Biskup S; Mendes MI; Smith DEC; Salomons GS; Zibat A; Bültmann E; Nürnberg P; Spielmann M; Lemke JR; Li Y; Zenker M; Varshney GK; Hillen HS; Kratz CP; Wollnik B
    Hum Mutat; 2022 Oct; 43(10):1454-1471. PubMed ID: 35790048
    [TBL] [Abstract][Full Text] [Related]  

  • 12. High expression of VARS promotes the growth of multiple myeloma cells by causing imbalance in valine metabolism.
    Shi R; DU W; He Y; Hu J; Yu H; Zhou W; Guo J; Feng X
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2023 Jun; 48(6):795-808. PubMed ID: 37587064
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
    AlMuhaizea M; AlMass R; AlHargan A; AlBader A; Medico Salsench E; Howaidi J; Ihinger J; Karachunski P; Begtrup A; Segura Castell M; Bauer P; Bertoli-Avella A; Kaya IH; AlSufayan J; AlQuait L; Chedrawi A; Arold ST; Colak D; Barakat TS; Kaya N
    Acta Neuropathol; 2020 Apr; 139(4):791-794. PubMed ID: 32006098
    [No Abstract]   [Full Text] [Related]  

  • 14. Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
    Lin SJ; Vona B; Porter HM; Izadi M; Huang K; Lacassie Y; Rosenfeld JA; Khan S; Petree C; Ali TA; Muhammad N; Khan SA; Muhammad N; Liu P; Haymon ML; Rüschendorf F; Kong IK; Schnapp L; Shur N; Chorich L; Layman L; Haaf T; Pourkarimi E; Kim HG; Varshney GK
    Hum Mutat; 2022 Oct; 43(10):1472-1489. PubMed ID: 35815345
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
    Asif M; Khayyat AIA; Alawbathani S; Abdullah U; Sanner A; Georgomanolis T; Haasters J; Becker K; Budde B; Becker C; Thiele H; Baig SM; Isidoro-García M; Winter D; Pogoda HM; Muhammad S; Hammerschmidt M; Kraft F; Kurth I; Martin HG; Wagner M; Nürnberg P; Hussain MS
    Genet Med; 2024 Jul; 26(7):101143. PubMed ID: 38641995
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.
    Zadjali F; Al-Yahyaee A; Al-Nabhani M; Al-Mubaihsi S; Gujjar A; Raniga S; Al-Maawali A
    Hum Mutat; 2018 Oct; 39(10):1355-1359. PubMed ID: 30014610
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
    Muona M; Ishimura R; Laari A; Ichimura Y; Linnankivi T; Keski-Filppula R; Herva R; Rantala H; Paetau A; Pöyhönen M; Obata M; Uemura T; Karhu T; Bizen N; Takebayashi H; McKee S; Parker MJ; Akawi N; McRae J; Hurles ME; ; Kuismin O; Kurki MI; Anttonen AK; Tanaka K; Palotie A; Waguri S; Lehesjoki AE; Komatsu M
    Am J Hum Genet; 2016 Sep; 99(3):683-694. PubMed ID: 27545674
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.
    McMillan HJ; Humphreys P; Smith A; Schwartzentruber J; Chakraborty P; Bulman DE; Beaulieu CL; ; Majewski J; Boycott KM; Geraghty MT
    J Child Neurol; 2015 Jul; 30(8):1037-43. PubMed ID: 25330800
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
    Reilly ML; Stokman MF; Magry V; Jeanpierre C; Alves M; Paydar M; Hellinga J; Delous M; Pouly D; Failler M; Martinovic J; Loeuillet L; Leroy B; Tantau J; Roume J; Gregory-Evans CY; Shan X; Filges I; Allingham JS; Kwok BH; Saunier S; Giles RH; Benmerah A
    Hum Mol Genet; 2019 Mar; 28(5):778-795. PubMed ID: 30388224
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders.
    Chan DL; Rudinger-Thirion J; Frugier M; Riley LG; Ho G; Kothur K; Mohammad SS
    Brain Dev; 2022 Feb; 44(2):142-147. PubMed ID: 34774383
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.