BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 34909687)

  • 1. Variants in
    Bott LC; Forouhan M; Lieto M; Sala AJ; Ellerington R; Johnson JO; Speciale AA; Criscuolo C; Filla A; Chitayat D; Alkhunaizi E; Shannon P; Nemeth AH; ; Angelucci F; Lim WF; Striano P; Zara F; Helbig I; Muona M; Courage C; Lehesjoki AE; Berkovic SF; ; Fischbeck KH; Brancati F; Morimoto RI; Wood MJA; Rinaldi C
    Brain Commun; 2021; 3(4):fcab245. PubMed ID: 34909687
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.
    Indrawinata K; Argiropoulos P; Sugita S
    Front Mol Neurosci; 2023; 16():1135015. PubMed ID: 37465367
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H
    Aoto K; Kato M; Akita T; Nakashima M; Mutoh H; Akasaka N; Tohyama J; Nomura Y; Hoshino K; Ago Y; Tanaka R; Epstein O; Ben-Haim R; Heyman E; Miyazaki T; Belal H; Takabayashi S; Ohba C; Takata A; Mizuguchi T; Miyatake S; Miyake N; Fukuda A; Matsumoto N; Saitsu H
    Nat Commun; 2021 Apr; 12(1):2107. PubMed ID: 33833240
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
    Guerrini R; Mei D; Kerti-Szigeti K; Pepe S; Koenig MK; Von Allmen G; Cho MT; McDonald K; Baker J; Bhambhani V; Powis Z; Rodan L; Nabbout R; Barcia G; Rosenfeld JA; Bacino CA; Mignot C; Power LH; Harris CJ; Marjanovic D; Møller RS; Hammer TB; ; Keski Filppula R; Vieira P; Hildebrandt C; Sacharow S; ; Maragliano L; Benfenati F; Lachlan K; Benneche A; Petit F; de Sainte Agathe JM; Hallinan B; Si Y; Wentzensen IM; Zou F; Narayanan V; Matsumoto N; Boncristiano A; la Marca G; Kato M; Anderson K; Barba C; Sturiale L; Garozzo D; Bei R; ; Masuelli L; Conti V; Novarino G; Fassio A
    Brain; 2022 Aug; 145(8):2687-2703. PubMed ID: 35675510
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
    Fassio A; Esposito A; Kato M; Saitsu H; Mei D; Marini C; Conti V; Nakashima M; Okamoto N; Olmez Turker A; Albuz B; Semerci Gündüz CN; Yanagihara K; Belmonte E; Maragliano L; Ramsey K; Balak C; Siniard A; Narayanan V; ; Ohba C; Shiina M; Ogata K; Matsumoto N; Benfenati F; Guerrini R
    Brain; 2018 Jun; 141(6):1703-1718. PubMed ID: 29668857
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The different roles of V-ATPase a subunits in phagocytosis/endocytosis and autophagy.
    Chen Q; Kou H; Demy DL; Liu W; Li J; Wen Z; Herbomel P; Huang Z; Zhang W; Xu J
    Autophagy; 2024 Jun; ():1-17. PubMed ID: 38873931
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The emerging roles of vacuolar-type ATPase-dependent Lysosomal acidification in neurodegenerative diseases.
    Song Q; Meng B; Xu H; Mao Z
    Transl Neurodegener; 2020 May; 9(1):17. PubMed ID: 32393395
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
    Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ
    Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
    Castellotti B; Canafoglia L; Freri E; Tappatà M; Messina G; Magri S; DiFrancesco JC; Fanella M; Di Bonaventura C; Morano A; Granata T; Gellera C; Franceschetti S; Michelucci R
    Epilepsia Open; 2023 Jun; 8(2):645-650. PubMed ID: 36719163
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
    Platzer K; Sticht H; Bupp C; Ganapathi M; Pereira EM; Le Guyader G; Bilan F; Henderson LB; Lemke JR; Taschenberger H; Brose N; Abou Jamra R; Wojcik SM
    Ann Neurol; 2022 Dec; 92(6):958-973. PubMed ID: 36073542
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
    Esposito A; Falace A; Wagner M; Gal M; Mei D; Conti V; Pisano T; Aprile D; Cerullo MS; De Fusco A; Giovedì S; Seibt A; Magen D; Polster T; Eran A; Stenton SL; Fiorillo C; Ravid S; Mayatepek E; Hafner H; Wortmann S; Levanon EY; Marini C; Mandel H; Benfenati F; Distelmaier F; Fassio A; Guerrini R
    Brain; 2019 Dec; 142(12):3876-3891. PubMed ID: 31688942
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Lysosomal-mediated waste clearance in retinal pigment epithelial cells is regulated by CRYBA1/βA3/A1-crystallin via V-ATPase-MTORC1 signaling.
    Valapala M; Wilson C; Hose S; Bhutto IA; Grebe R; Dong A; Greenbaum S; Gu L; Sengupta S; Cano M; Hackett S; Xu G; Lutty GA; Dong L; Sergeev Y; Handa JT; Campochiaro P; Wawrousek E; Zigler JS; Sinha D
    Autophagy; 2014 Mar; 10(3):480-96. PubMed ID: 24468901
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
    Galosi S; Edani BH; Martinelli S; Hansikova H; Eklund EA; Caputi C; Masuelli L; Corsten-Janssen N; Srour M; Oegema R; Bosch DGM; Ellis CA; Amlie-Wolf L; Accogli A; Atallah I; Averdunk L; Barañano KW; Bei R; Bagnasco I; Brusco A; Demarest S; Alaix AS; Di Bonaventura C; Distelmaier F; Elmslie F; Gan-Or Z; Good JM; Gripp K; Kamsteeg EJ; Macnamara E; Marcelis C; Mercier N; Peeden J; Pizzi S; Pannone L; Shinawi M; Toro C; Verbeek NE; Venkateswaran S; Wheeler PG; Zdrazilova L; Zhang R; Zorzi G; Guerrini R; Sessa WC; Lefeber DJ; Tartaglia M; Hamdan FF; Grabińska KA; Leuzzi V
    Brain; 2022 Mar; 145(1):208-223. PubMed ID: 34382076
    [TBL] [Abstract][Full Text] [Related]  

  • 14. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
    Vetro A; Nielsen HN; Holm R; Hevner RF; Parrini E; Powis Z; Møller RS; Bellan C; Simonati A; Lesca G; Helbig KL; Palmer EE; Mei D; Ballardini E; Van Haeringen A; Syrbe S; Leuzzi V; Cioni G; Curry CJ; Costain G; Santucci M; Chong K; Mancini GMS; Clayton-Smith J; Bigoni S; Scheffer IE; Dobyns WB; Vilsen B; Guerrini R;
    Brain; 2021 Jun; 144(5):1435-1450. PubMed ID: 33880529
    [TBL] [Abstract][Full Text] [Related]  

  • 15. RAVE and Rabconnectin-3 Complexes as Signal Dependent Regulators of Organelle Acidification.
    Jaskolka MC; Winkley SR; Kane PM
    Front Cell Dev Biol; 2021; 9():698190. PubMed ID: 34249946
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
    Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
    Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
    [TBL] [Abstract][Full Text] [Related]  

  • 17.
    Zhang L; Wen Y; Zhang Q; Chen Y; Wang J; Shi K; Du L; Bao X
    Front Pediatr; 2020; 8():577544. PubMed ID: 33425808
    [No Abstract]   [Full Text] [Related]  

  • 18. [Clinical and genetic characteristics of a child with Developmental and epileptic encephalopathy 104 due to variant of ATP6V0A1 gene].
    Li C; Wang Y; Chen S; Rong S; Huang B; Liu L; Lou H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar; 41(3):345-350. PubMed ID: 38448027
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
    Darras N; Ha TK; Rego S; Martin PM; Barroso E; Slavotinek AM; Cilio MR
    Am J Med Genet A; 2019 Nov; 179(11):2190-2195. PubMed ID: 31465153
    [TBL] [Abstract][Full Text] [Related]  

  • 20. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
    Mattison KA; Tossing G; Mulroe F; Simmons C; Butler KM; Schreiber A; Alsadah A; Neilson DE; Naess K; Wedell A; Wredenberg A; Sorlin A; McCann E; Burghel GJ; Menendez B; Hoganson GE; Botto LD; Filloux FM; Aledo-Serrano Á; Gil-Nagel A; Tatton-Brown K; Verbeek NE; van der Zwaag B; Aleck KA; Fazenbaker AC; Balciuniene J; Dubbs HA; Marsh ED; Garber K; Ek J; Duno M; Hoei-Hansen CE; Deardorff MA; Raca G; Quindipan C; van Hirtum-Das M; Breckpot J; Hammer TB; Møller RS; Whitney A; Douglas AGL; Kharbanda M; Brunetti-Pierri N; Morleo M; Nigro V; May HJ; Tao JX; Argilli E; Sherr EH; Dobyns WB; ; Baines RA; Warwicker J; Parker JA; Banka S; Campeau PM; Escayg A
    Brain; 2023 Apr; 146(4):1357-1372. PubMed ID: 36074901
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.