215 related articles for article (PubMed ID: 29878199)
1. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Ashikov A; Abu Bakar N; Wen XY; Niemeijer M; Rodrigues Pinto Osorio G; Brand-Arzamendi K; Hasadsri L; Hansikova H; Raymond K; Vicogne D; Ondruskova N; Simon MEH; Pfundt R; Timal S; Beumers R; Biot C; Smeets R; Kersten M; Huijben K; ; Linders PTA; van den Bogaart G; van Hijum SAFT; Rodenburg R; van den Heuvel LP; van Spronsen F; Honzik T; Foulquier F; van Scherpenzeel M; Lefeber DJ; ; Mirjam W; Han B; Helen M; Helen M; Peter VH; Jiddeke VK; Diego M; Lars M; Katja BH; Jozef H; Majid A; Kevin C; Johann TWN
Hum Mol Genet; 2018 Sep; 27(17):3029-3045. PubMed ID: 29878199
[TBL] [Abstract][Full Text] [Related]
2. SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Dubail J; Huber C; Chantepie S; Sonntag S; Tüysüz B; Mihci E; Gordon CT; Steichen-Gersdorf E; Amiel J; Nur B; Stolte-Dijkstra I; van Eerde AM; van Gassen KL; Breugem CC; Stegmann A; Lekszas C; Maroofian R; Karimiani EG; Bruneel A; Seta N; Munnich A; Papy-Garcia D; De La Dure-Molla M; Cormier-Daire V
Nat Commun; 2018 Aug; 9(1):3087. PubMed ID: 30082715
[TBL] [Abstract][Full Text] [Related]
3. The orphan solute carrier SLC10A7 is a novel negative regulator of intracellular calcium signaling.
Karakus E; Wannowius M; Müller SF; Leiting S; Leidolf R; Noppes S; Oswald S; Diener M; Geyer J
Sci Rep; 2020 Apr; 10(1):7248. PubMed ID: 32350310
[TBL] [Abstract][Full Text] [Related]
4. SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.
Durin Z; Dubail J; Layotte A; Legrand D; Cormier-Daire V; Foulquier F
Hum Genet; 2022 Jul; 141(7):1287-1298. PubMed ID: 34999954
[TBL] [Abstract][Full Text] [Related]
5. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC; Cirak S; van Scherpenzeel M; Timal S; Reunert J; Rust S; Pérez B; Vicogne D; Krawitz P; Wada Y; Ashikov A; Pérez-Cerdá C; Medrano C; Arnoldy A; Hoischen A; Huijben K; Steenbergen G; Quelhas D; Diogo L; Rymen D; Jaeken J; Guffon N; Cheillan D; van den Heuvel LP; Maeda Y; Kaiser O; Schara U; Gerner P; van den Boogert MA; Holleboom AG; Nassogne MC; Sokal E; Salomon J; van den Bogaart G; Drenth JP; Huynen MA; Veltman JA; Wevers RA; Morava E; Matthijs G; Foulquier F; Marquardt T; Lefeber DJ
Am J Hum Genet; 2016 Feb; 98(2):310-21. PubMed ID: 26833332
[TBL] [Abstract][Full Text] [Related]
6. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen JC; Timal S; van Scherpenzeel M; Michelakakis H; Vicogne D; Ashikov A; Moraitou M; Hoischen A; Huijben K; Steenbergen G; van den Boogert MA; Porta F; Calvo PL; Mavrikou M; Cenacchi G; van den Bogaart G; Salomon J; Holleboom AG; Rodenburg RJ; Drenth JP; Huynen MA; Wevers RA; Morava E; Foulquier F; Veltman JA; Lefeber DJ
Am J Hum Genet; 2016 Feb; 98(2):322-30. PubMed ID: 26833330
[TBL] [Abstract][Full Text] [Related]
7. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Cousin MA; Conboy E; Wang JS; Lenz D; Schwab TL; Williams M; Abraham RS; Barnett S; El-Youssef M; Graham RP; Gutierrez Sanchez LH; Hasadsri L; Hoffmann GF; Hull NC; Kopajtich R; Kovacs-Nagy R; Li JQ; Marx-Berger D; McLin V; McNiven MA; Mounajjed T; Prokisch H; Rymen D; Schulze RJ; Staufner C; Yang Y; Clark KJ; Lanpher BC; Klee EW
Am J Hum Genet; 2019 Jul; 105(1):108-121. PubMed ID: 31204009
[TBL] [Abstract][Full Text] [Related]
8. Topological studies of hSVCT1, the human sodium-dependent vitamin C transporter and the influence of N-glycosylation on its intracellular targeting.
Velho AM; Jarvis SM
Exp Cell Res; 2009 Aug; 315(13):2312-21. PubMed ID: 19379732
[TBL] [Abstract][Full Text] [Related]
9. A New
Laugel-Haushalter V; Bär S; Schaefer E; Stoetzel C; Geoffroy V; Alembik Y; Kharouf N; Huckert M; Hamm P; Hemmerlé J; Manière MC; Friant S; Dollfus H; Bloch-Zupan A
Front Genet; 2019; 10():504. PubMed ID: 31191616
[TBL] [Abstract][Full Text] [Related]
10. Two N-linked glycans are required to maintain the transport activity of the bile salt export pump (ABCB11) in MDCK II cells.
Mochizuki K; Kagawa T; Numari A; Harris MJ; Itoh J; Watanabe N; Mine T; Arias IM
Am J Physiol Gastrointest Liver Physiol; 2007 Mar; 292(3):G818-28. PubMed ID: 17082223
[TBL] [Abstract][Full Text] [Related]
11. TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F; Amyere M; Jaeken J; Zeevaert R; Schollen E; Race V; Bammens R; Morelle W; Rosnoblet C; Legrand D; Demaegd D; Buist N; Cheillan D; Guffon N; Morsomme P; Annaert W; Freeze HH; Van Schaftingen E; Vikkula M; Matthijs G
Am J Hum Genet; 2012 Jul; 91(1):15-26. PubMed ID: 22683087
[TBL] [Abstract][Full Text] [Related]
12. Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
Kodera H; Ando N; Yuasa I; Wada Y; Tsurusaki Y; Nakashima M; Miyake N; Saitoh S; Matsumoto N; Saitsu H
Clin Genet; 2015 May; 87(5):455-60. PubMed ID: 24784932
[TBL] [Abstract][Full Text] [Related]
13. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S; Hoischen A; Lehle L; Adamowicz M; Huijben K; Sykut-Cegielska J; Paprocka J; Jamroz E; van Spronsen FJ; Körner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ
Hum Mol Genet; 2012 Oct; 21(19):4151-61. PubMed ID: 22492991
[TBL] [Abstract][Full Text] [Related]
14. Molecular and phylogenetic characterization of a novel putative membrane transporter (SLC10A7), conserved in vertebrates and bacteria.
Godoy JR; Fernandes C; Döring B; Beuerlein K; Petzinger E; Geyer J
Eur J Cell Biol; 2007 Aug; 86(8):445-60. PubMed ID: 17628207
[TBL] [Abstract][Full Text] [Related]
15. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M; Timal S; Rymen D; Hoischen A; Wuhrer M; Hipgrave-Ederveen A; Grunewald S; Peanne R; Saada A; Edvardson S; Grønborg S; Ruijter G; Kattentidt-Mouravieva A; Brum JM; Freckmann ML; Tomkins S; Jalan A; Prochazkova D; Ondruskova N; Hansikova H; Willemsen MA; Hensbergen PJ; Matthijs G; Wevers RA; Veltman JA; Morava E; Lefeber DJ
Brain; 2014 Apr; 137(Pt 4):1030-8. PubMed ID: 24566669
[TBL] [Abstract][Full Text] [Related]
16. Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.
Ge H; Wu Q; Lu H; Huang Y; Zhou T; Tan D; ZhongqinJin
BMC Med Genet; 2020 Jun; 21(1):135. PubMed ID: 32576142
[TBL] [Abstract][Full Text] [Related]
17. A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng BG; Sosicka P; Fenaille F; Harroche A; Vuillaumier-Barrot S; Porterfield M; Xia ZJ; Wagner S; Bamshad MJ; Vergnes-Boiteux MC; Cholet S; Dalton S; Dell A; Dupré T; Fiore M; Haslam SM; Huguenin Y; Kumagai T; Kulik M; McGoogan K; Michot C; Nickerson DA; Pascreau T; Borgel D; Raymond K; Warad D; ; Flanagan-Steet H; Steet R; Tiemeyer M; Seta N; Bruneel A; Freeze HH
Am J Hum Genet; 2021 Jun; 108(6):1040-1052. PubMed ID: 33964207
[TBL] [Abstract][Full Text] [Related]
18. Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
Abu Bakar N; Lefeber DJ; van Scherpenzeel M
J Inherit Metab Dis; 2018 May; 41(3):499-513. PubMed ID: 29497882
[TBL] [Abstract][Full Text] [Related]
19. N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency.
Saldova R; Stöckmann H; O'Flaherty R; Lefeber DJ; Jaeken J; Rudd PM
J Proteome Res; 2015 Oct; 14(10):4402-12. PubMed ID: 26401844
[TBL] [Abstract][Full Text] [Related]
20. Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Abuduxikuer K; Zou L; Wang L; Chen L; Wang JS
J Hum Genet; 2020 Apr; 65(4):387-396. PubMed ID: 31965062
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
