137 related articles for article (PubMed ID: 27148587)
1. Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.
Gupta S; Fahiminiya S; Wang T; Dempsey Nunez L; Rosenblatt DS; Gibson WT; Gilfix B; Bergeron JJ; Jerome-Majewska LA
Cold Spring Harb Mol Case Stud; 2016 May; 2(3):a000737. PubMed ID: 27148587
[TBL] [Abstract][Full Text] [Related]
2. First Case of a Dominant De Novo
Minale EMP; De Falco A; Agolini E; Novelli A; Russo R; Andolfo I; Iolascon A; Piscopo C
Genes (Basel); 2024 Jan; 15(1):. PubMed ID: 38275611
[TBL] [Abstract][Full Text] [Related]
3. Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
Wang Q; Lin X; Lai K; Liu Y; Qin T; Tan H; Li J; Lin Z; Zhang X; Li X; Lin H; Chen W
BMC Med Genomics; 2023 Oct; 16(1):241. PubMed ID: 37828500
[TBL] [Abstract][Full Text] [Related]
4. Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
Boyadjiev SA; Kim SD; Hata A; Haldeman-Englert C; Zackai EH; Naydenov C; Hamamoto S; Schekman RW; Kim J
Clin Genet; 2011 Aug; 80(2):169-76. PubMed ID: 21039434
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. MAN1B1-CDG: novel patients and novel variant.
Kasapkara CS; Olgac A; Kilic M; Keldermans L; Matthijs G; Jaeken J
J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1207-1209. PubMed ID: 34162022
[TBL] [Abstract][Full Text] [Related]
7. Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.
Okamoto N; Ohto T; Enokizono T; Wada Y; Kohmoto T; Imoto I; Haga Y; Seino J; Suzuki T
Cells; 2021 Nov; 10(11):. PubMed ID: 34831340
[TBL] [Abstract][Full Text] [Related]
8. MAN1B1 deficiency: an unexpected CDG-II.
Rymen D; Peanne R; Millón MB; Race V; Sturiale L; Garozzo D; Mills P; Clayton P; Asteggiano CG; Quelhas D; Cansu A; Martins E; Nassogne MC; Gonçalves-Rocha M; Topaloglu H; Jaeken J; Foulquier F; Matthijs G
PLoS Genet; 2013; 9(12):e1003989. PubMed ID: 24348268
[TBL] [Abstract][Full Text] [Related]
9. MAN1B1-CDG: Three new individuals and associated biochemical profiles.
Sakhi S; Cholet S; Wehbi S; Isidor B; Cogne B; Vuillaumier-Barrot S; Dupré T; Detleft T; Schmitt E; Leheup B; Bonnet C; Feillet F; Muti C; Fenaille F; Bruneel A
Mol Genet Metab Rep; 2021 Sep; 28():100775. PubMed ID: 34141584
[TBL] [Abstract][Full Text] [Related]
10. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
Boyadjiev SA; Fromme JC; Ben J; Chong SS; Nauta C; Hur DJ; Zhang G; Hamamoto S; Schekman R; Ravazzola M; Orci L; Eyaid W
Nat Genet; 2006 Oct; 38(10):1192-7. PubMed ID: 16980979
[TBL] [Abstract][Full Text] [Related]
11. Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
Kemme L; Grüneberg M; Reunert J; Rust S; Park J; Westermann C; Wada Y; Schwartz O; Marquardt T
JIMD Rep; 2021 Jul; 60(1):42-55. PubMed ID: 34258140
[TBL] [Abstract][Full Text] [Related]
12. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Garbes L; Kim K; Rieß A; Hoyer-Kuhn H; Beleggia F; Bevot A; Kim MJ; Huh YH; Kweon HS; Savarirayan R; Amor D; Kakadia PM; Lindig T; Kagan KO; Becker J; Boyadjiev SA; Wollnik B; Semler O; Bohlander SK; Kim J; Netzer C
Am J Hum Genet; 2015 Mar; 96(3):432-9. PubMed ID: 25683121
[TBL] [Abstract][Full Text] [Related]
13. MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
Hoffjan S; Epplen JT; Reis A; Abou Jamra R
Mol Syndromol; 2015 Jul; 6(2):58-62. PubMed ID: 26279649
[TBL] [Abstract][Full Text] [Related]
14. Case Report: Compound Heterozygous Variants of the
Zhalsanova IZ; Ravzhaeva EG; Postrigan AE; Seitova GN; Zhigalina DI; Udalova VY; Danina MM; Kanivets IV; Skryabin NA
Int J Mol Sci; 2022 Sep; 23(18):. PubMed ID: 36142510
[TBL] [Abstract][Full Text] [Related]
15. A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Cisarova K; Garavelli L; Caraffi SG; Peluso F; Valeri L; Gargano G; Gavioli S; Trimarchi G; Neri A; Campos-Xavier B; Superti-Furga A
Am J Med Genet A; 2022 Jan; 188(1):319-325. PubMed ID: 34580982
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice.
Zhu M; Tao J; Vasievich MP; Wei W; Zhu G; Khoriaty RN; Zhang B
Sci Rep; 2015 Oct; 5():15471. PubMed ID: 26494538
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. BBF2H7-mediated Sec23A pathway is required for endoplasmic reticulum-to-Golgi trafficking in dermal fibroblasts to promote collagen synthesis.
Ishikura-Kinoshita S; Saeki H; Tsuji-Naito K
J Invest Dermatol; 2012 Aug; 132(8):2010-8. PubMed ID: 22495181
[TBL] [Abstract][Full Text] [Related]
20. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R; Aiello C; Race V; Morava E; Foulquier F; Riemersma M; Passarelli C; Concolino D; Carella M; Santorelli F; Vleugels W; Mercuri E; Garozzo D; Sturiale L; Messina S; Jaeken J; Fiumara A; Wevers RA; Bertini E; Matthijs G; Lefeber DJ
Ann Neurol; 2012 Oct; 72(4):550-8. PubMed ID: 23109149
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
