146 related articles for article (PubMed ID: 38054405)
1. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R; Zamani M; Kaiyrzhanov R; Liebmann L; Karimiani EG; Vona B; Huebner AK; Calame DG; Misra VK; Sadeghian S; Azizimalamiri R; Mohammadi MH; Zeighami J; Heydaran S; Toosi MB; Akhondian J; Babaei M; Hashemi N; Schnur RE; Suri M; Setzke J; Wagner M; Brunet T; Grochowski CM; Emrick L; Chung WK; Hellmich UA; Schmidts M; Lupski JR; Galehdari H; Severino M; Houlden H; Hübner CA
Genet Med; 2024 Mar; 26(3):101034. PubMed ID: 38054405
[TBL] [Abstract][Full Text] [Related]
2. SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Fasham J; Huebner AK; Liebmann L; Khalaf-Nazzal R; Maroofian R; Kryeziu N; Wortmann SB; Leslie JS; Ubeyratna N; Mancini GMS; van Slegtenhorst M; Wilke M; Haack TB; Shamseldin HE; Gleeson JG; Almuhaizea M; Dweikat I; Abu-Libdeh B; Daana M; Zaki MS; Wakeling MN; McGavin L; Turnpenny PD; Alkuraya FS; Houlden H; Schlattmann P; Kaila K; Crosby AH; Baple EL; Hübner CA
Brain; 2023 Nov; 146(11):4547-4561. PubMed ID: 37459438
[TBL] [Abstract][Full Text] [Related]
3. Na+-dependent HCO3- import by the slc4a10 gene product involves Cl- export.
Damkier HH; Aalkjaer C; Praetorius J
J Biol Chem; 2010 Aug; 285(35):26998-27007. PubMed ID: 20566632
[TBL] [Abstract][Full Text] [Related]
4. K
Peña-Münzenmayer G; George AT; Llontop N; Mazola Y; Apablaza N; Spichiger C; Brauchi S; Sarmiento J; Zúñiga L; González W; Catalán MA
Int J Mol Sci; 2024 Apr; 25(8):. PubMed ID: 38674160
[TBL] [Abstract][Full Text] [Related]
5. Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability.
Jacobs S; Ruusuvuori E; Sipilä ST; Haapanen A; Damkier HH; Kurth I; Hentschke M; Schweizer M; Rudhard Y; Laatikainen LM; Tyynelä J; Praetorius J; Voipio J; Hübner CA
Proc Natl Acad Sci U S A; 2008 Jan; 105(1):311-6. PubMed ID: 18165320
[TBL] [Abstract][Full Text] [Related]
6. Genetic ablation of Slc4a10 alters the expression pattern of transporters involved in solute movement in the mouse choroid plexus.
Damkier HH; Praetorius J
Am J Physiol Cell Physiol; 2012 May; 302(10):C1452-9. PubMed ID: 22357733
[TBL] [Abstract][Full Text] [Related]
7. Cloning and functional characterization of novel variants and tissue-specific expression of alternative amino and carboxyl termini of products of slc4a10.
Liu Y; Wang DK; Jiang DZ; Qin X; Xie ZD; Wang QK; Liu M; Chen LM
PLoS One; 2013; 8(2):e55974. PubMed ID: 23409100
[TBL] [Abstract][Full Text] [Related]
8. Neuron type- and input pathway-dependent expression of Slc4a10 in adult mouse brains.
Song X; Yamasaki M; Miyazaki T; Konno K; Uchigashima M; Watanabe M
Eur J Neurosci; 2014 Sep; 40(5):2797-810. PubMed ID: 24905082
[TBL] [Abstract][Full Text] [Related]
9. Biallelic variants in
Dentici ML; Alesi V; Quinodoz M; Robens B; Guerin A; Lebon S; Poduri A; Travaglini L; Graziola F; Afenjar A; Keren B; Licursi V; Capuano A; Dallapiccola B; Superti-Furga A; Novelli A
J Med Genet; 2022 Mar; 59(3):262-269. PubMed ID: 33397746
[TBL] [Abstract][Full Text] [Related]
10. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R; Kaiyrzhanov R; Cali E; Zamani M; Zaki MS; Ferla M; Tortora D; Sadeghian S; Saadi SM; Abdullah U; Karimiani EG; Efthymiou S; Yeşil G; Alavi S; Al Shamsi AM; Tajsharghi H; Abdel-Hamid MS; Saadi NW; Al Mutairi F; Alabdi L; Beetz C; Ali Z; Toosi MB; Rudnik-Schöneborn S; Babaei M; Isohanni P; Muhammad J; Khan S; Al Shalan M; Hickey SE; Marom D; Elhanan E; Kurian MA; Marafi D; Saberi A; Hamid M; Spaull R; Meng L; Lalani S; Maqbool S; Rahman F; Seeger J; Palculict TB; Lau T; Murphy D; Mencacci NE; Steindl K; Begemann A; Rauch A; Akbas S; Aslanger AD; Salpietro V; Yousaf H; Ben-Shachar S; Ejeskär K; Al Aqeel AI; High FA; Armstrong-Javors AE; Zahraei SM; Seifi T; Zeighami J; Shariati G; Sedaghat A; Asl SN; Shahrooei M; Zifarelli G; Burglen L; Ravelli C; Zschocke J; Schatz UA; Ghavideldarestani M; Kamel WA; Van Esch H; Hackenberg A; Taylor JC; Al-Gazali L; Bauer P; Gleeson JJ; Alkuraya FS; Lupski JR; Galehdari H; Azizimalamiri R; Chung WK; Baig SM; Houlden H; Severino M
Brain; 2023 Dec; 146(12):5031-5043. PubMed ID: 37517035
[TBL] [Abstract][Full Text] [Related]
11. Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice.
Huebner AK; Maier H; Maul A; Nietzsche S; Herrmann T; Praetorius J; Hübner CA
J Assoc Res Otolaryngol; 2019 Jun; 20(3):233-245. PubMed ID: 31001720
[TBL] [Abstract][Full Text] [Related]
12. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R; Rad A; Lin SJ; Bertoli-Avella A; Kallemeijn WW; Godwin A; Zaki MS; Huang K; Lau T; Petree C; Efthymiou S; Karimiani EG; Hempel M; Normand EA; Rudnik-Schöneborn S; Schatz UA; Baggelaar MP; Ilyas M; Sultan T; Alvi JR; Ganieva M; Fowler B; Aanicai R; Tayfun GA; Al Saman A; Alswaid A; Amiri N; Asilova N; Shotelersuk V; Yeetong P; Azam M; Babaei M; Monajemi GB; Mohammadi P; Samie S; Banu SH; Pinto Basto J; Kortüm F; Bauer M; Bauer P; Beetz C; Garshasbi M; Issa AH; Eyaid W; Ahmed H; Hashemi N; Hassanpour K; Herman I; Ibrohimov S; Abdul-Majeed BA; Imdad M; Isrofilov M; Kaiyal Q; Khan S; Kirmse B; Koster J; Lourenço CM; Mitani T; Moldovan O; Murphy D; Najafi M; Pehlivan D; Rocha ME; Salpietro V; Schmidts M; Shalata A; Mahroum M; Talbeya JK; Taylor RW; Vazquez D; Vetro A; Waterham HR; Zaman M; Schrader TA; Chung WK; Guerrini R; Lupski JR; Gleeson J; Suri M; Jamshidi Y; Bhatia KP; Vona B; Schrader M; Severino M; Guille M; Tate EW; Varshney GK; Houlden H; Maroofian R
Brain; 2024 Apr; 147(4):1436-1456. PubMed ID: 37951597
[TBL] [Abstract][Full Text] [Related]
13. Genetic disruption of slc4a10 alters the capacity for cellular metabolism and vectorial ion transport in the choroid plexus epithelium.
Christensen IB; Wu Q; Bohlbro AS; Skals MG; Damkier HH; Hübner CA; Fenton RA; Praetorius J
Fluids Barriers CNS; 2020 Jan; 17(1):2. PubMed ID: 31906971
[TBL] [Abstract][Full Text] [Related]
14. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Christensen MB; Levy AM; Mohammadi NA; Niceta M; Kaiyrzhanov R; Dentici ML; Al Alam C; Alesi V; Benoit V; Bhatia KP; Bierhals T; Boßelmann CM; Buratti J; Callewaert B; Ceulemans B; Charles P; De Wachter M; Dehghani M; D'haenens E; Doco-Fenzy M; Geßner M; Gobert C; Guliyeva U; Haack TB; Hammer TB; Heinrich T; Hempel M; Herget T; Hoffmann U; Horvath J; Houlden H; Keren B; Kresge C; Kumps C; Lederer D; Lermine A; Magrinelli F; Maroofian R; Vahidi Mehrjardi MY; Moudi M; Müller AJ; Oostra AJ; Pletcher BA; Ros-Pardo D; Samarasekera S; Tartaglia M; Van Schil K; Vogt J; Wassmer E; Winkelmann J; Zaki MS; Zech M; Lerche H; Radio FC; Gomez-Puertas P; Møller RS; Tümer Z
Clin Genet; 2022 Aug; 102(2):98-109. PubMed ID: 35616059
[TBL] [Abstract][Full Text] [Related]
15. Bicarbonate sensing in mouse cortical astrocytes during extracellular acid/base disturbances.
Theparambil SM; Naoshin Z; Defren S; Schmaelzle J; Weber T; Schneider HP; Deitmer JW
J Physiol; 2017 Apr; 595(8):2569-2585. PubMed ID: 27981578
[TBL] [Abstract][Full Text] [Related]
16. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H; Lewis SA; Bakhtiari S; Nordlie SH; Pagnozzi A; Magee H; Efthymiou S; Heim JA; Cornejo P; Zaki MS; Anwar N; Maqbool S; Rahman F; Neilson DE; Vemuri A; Jin SC; Yang XR; Heidari A; van Gassen K; Trimouille A; Thauvin-Robinet C; Liu J; Bruel AL; Tomoum H; Shata MO; Hashem MO; Toosi MB; Karimiani EG; Yeşil G; Lingappa L; Baruah D; Ebrahimzadeh F; Van-Gils J; Faivre L; Zamani M; Galehdari H; Sadeghian S; Shariati G; Mohammad R; van der Smagt J; Qari A; Vincent JB; Innes AM; Dursun A; Özgül RK; Akar HT; Bilguvar K; Mignot C; Keren B; Raveli C; Burglen L; Afenjar A; Kaat LD; van Slegtenhorst M; Alkuraya F; Houlden H; Padilla-Lopez S; Maroofian R; Sacher M; Kruer MC
Brain; 2024 Jan; 147(1):311-324. PubMed ID: 37713627
[TBL] [Abstract][Full Text] [Related]
17. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA; Ahmed ZM; Magini P; Pienkowski VM; Rasmussen KJ; Hernan R; Rasheed F; Hussain M; Shahzad M; Lanpher BC; Niu Z; Lim FY; Pippucci T; Ploski R; Kraus V; Matuszewska K; Palombo F; Kianmahd J; ; Martinez-Agosto JA; Lee H; Colao E; Motazacker MM; Brigatti KW; Puffenberger EG; Riazuddin SA; Gonzaga-Jauregui C; Chung WK; Wagner M; Schultz MJ; Seri M; Kievit AJA; Perrotti N; Wassink-Ruiter JSK; van Bokhoven H; Riazuddin S; Riazuddin S
Am J Hum Genet; 2021 Jul; 108(7):1330-1341. PubMed ID: 34102099
[TBL] [Abstract][Full Text] [Related]
18. Consolidating the association of biallelic
Maroofian R; Efthymiou S; Suri M; Rahman F; Zaki MS; Maqbool S; Anwa N; Ruiz-Pérez VL; Yanovsky-Dagan S; Elpeleg O; Sudhakar S; Mankad K; Harel T; Houlden H
J Med Genet; 2023 Aug; 60(8):791-796. PubMed ID: 36581449
[TBL] [Abstract][Full Text] [Related]
19. Bicarbonate transport in health and disease.
Alka K; Casey JR
IUBMB Life; 2014 Sep; 66(9):596-615. PubMed ID: 25270914
[TBL] [Abstract][Full Text] [Related]
20. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Poggio E; Barazzuol L; Salmaso A; Milani C; Deligiannopoulou A; Cazorla ÁG; Jang SS; Juliá-Palacios N; Keren B; Kopajtich R; Lynch SA; Mignot C; Moorwood C; Neuhofer C; Nigro V; Oostra A; Prokisch H; Saillour V; Schuermans N; Torella A; Verloo P; Yazbeck E; Zollino M; Jech R; Winkelmann J; Necpal J; Calì T; Brini M; Zech M
Genet Med; 2023 Dec; 25(12):100971. PubMed ID: 37675773
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
